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Gene: OR1A1 (olfactory receptor family 1 subfamily A member 1) Homo sapiens

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Symbol:

OR1A1

Name:

olfactory receptor family 1 subfamily A member 1

RGD ID:

1351186

HGNC Page

HGNC:8179

Description:

Predicted to enable olfactory receptor activity. Predicted to be involved in signal transduction. Predicted to be located in membrane. Predicted to be active in plasma membrane.

Type:

protein-coding

RefSeq Status:

VALIDATED

Previously known as:

olfactory receptor 17-7; olfactory receptor 1A1; olfactory receptor family 1 subfamily A member 1 (gene/pseudogene); olfactory receptor OR17-11; olfactory receptor, family 1, subfamily A, member 1; OR17-7

RGD Orthologs

Alliance Orthologs

More Info

more info ...

Allele / Splice:

See ClinVar data

Latest Assembly:

GRCh38 - Human Genome Assembly GRCh38

Position:

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	17	3,207,667 - 3,218,896 (+)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	17	3,207,539 - 3,218,896 (+)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	17	3,110,961 - 3,122,190 (+)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	17	3,065,665 - 3,066,594 (+)	NCBI	NCBI36	Build 36	hg18	NCBI36
Build 34	17	3,065,664 - 3,066,594	NCBI
Celera	17	3,136,984 - 3,137,913 (+)	NCBI		Celera
Cytogenetic Map	17	p13.3	NCBI
HuRef	17	3,011,170 - 3,012,099 (+)	NCBI		HuRef
CHM1_1	17	3,127,802 - 3,128,731 (+)	NCBI		CHM1_1
T2T-CHM13v2.0	17	3,095,937 - 3,107,165 (+)	NCBI		T2T-CHM13v2.0

JBrowse:

View Region in Genome Browser (JBrowse)

Model

Annotation Click to see Annotation Detail View

Gene-Chemical Interaction Annotations Click to see Annotation Detail View

2,4-Nonadienal (EXP)

2,6-nonadienal (EXP)

alpha-ionone (EXP)

benzo[a]pyrene (EXP)

bisphenol A (ISO)

C60 fullerene (ISO)

cadmium dichloride (ISO)

citral dimethyl acetal (EXP)

citronellal (EXP,ISO)

citronellol (EXP,ISO)

copper atom (ISO)

copper(0) (ISO)

decanal (EXP)

folic acid (ISO)

geraniol (EXP)

ivermectin (EXP)

octanal (EXP,ISO)

Gene Ontology Annotations Click to see Annotation Detail View

Biological Process

detection of chemical stimulus involved in sensory perception of smell (IEA)

G protein-coupled receptor signaling pathway (IEA)

sensory perception of smell (IEA)

signal transduction (IBA,IEA)

Cellular Component

membrane (IEA)

plasma membrane (IBA,IEA,TAS)

Molecular Function

G protein-coupled receptor activity (IEA)

olfactory receptor activity (IBA,IEA)

References

References - curated

#	Reference Title	Reference Citation
1.	GOAs Human GO annotations	GOA_HUMAN data from the GO Consortium
2.	ClinVar Automated Import and Annotation Pipeline	RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
3.	Data Import for Chemical-Gene Interactions	RGD automated import pipeline for gene-chemical interactions

Additional References at PubMed

PMID:10673334	PMID:12213199	PMID:12477932	PMID:14983052	PMID:17601748	PMID:21873635	PMID:25817041	PMID:29632183	PMID:32126975	PMID:33961781	PMID:36293357

Genomics

Comparative Map Data

OR1A1
(Homo sapiens - human)

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	17	3,207,667 - 3,218,896 (+)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	17	3,207,539 - 3,218,896 (+)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	17	3,110,961 - 3,122,190 (+)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	17	3,065,665 - 3,066,594 (+)	NCBI	NCBI36	Build 36	hg18	NCBI36
Build 34	17	3,065,664 - 3,066,594	NCBI
Celera	17	3,136,984 - 3,137,913 (+)	NCBI		Celera
Cytogenetic Map	17	p13.3	NCBI
HuRef	17	3,011,170 - 3,012,099 (+)	NCBI		HuRef
CHM1_1	17	3,127,802 - 3,128,731 (+)	NCBI		CHM1_1
T2T-CHM13v2.0	17	3,095,937 - 3,107,165 (+)	NCBI		T2T-CHM13v2.0

Or1a1b
(Mus musculus - house mouse)

Mouse Assembly	Chr	Position (strand)	Source	Genome Browsers
Mouse Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCm39	11	74,097,024 - 74,098,115 (-)	NCBI	GRCm39	GRCm39	mm39
GRCm39 Ensembl	11	74,096,490 - 74,102,205 (-)	Ensembl		GRCm39 Ensembl
GRCm38	11	74,206,198 - 74,207,289 (-)	NCBI	GRCm38	GRCm38	mm10	GRCm38
GRCm38.p6 Ensembl	11	74,205,664 - 74,211,379 (-)	Ensembl	GRCm38		mm10	GRCm38
MGSCv37	11	74,019,700 - 74,020,791 (-)	NCBI	GRCm37	MGSCv37	mm9	NCBIm37
MGSCv36	11	74,022,468 - 74,023,409 (-)	NCBI		MGSCv36	mm8
Celera	11	81,735,512 - 81,736,603 (-)	NCBI		Celera
Cytogenetic Map	11	B5	NCBI
cM Map	11	45.76	NCBI

Or1a1
(Rattus norvegicus - Norway rat)

Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCr8	10	59,557,386 - 59,558,324 (+)	NCBI		GRCr8
GRCr8 Ensembl	10	59,557,386 - 59,558,324 (+)	Ensembl		GRCr8 Ensembl
mRatBN7.2	10	59,058,941 - 59,059,879 (+)	NCBI	mRatBN7.2	mRatBN7.2
mRatBN7.2 Ensembl	10	59,052,828 - 59,060,676 (+)	Ensembl		mRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx	10	63,685,982 - 63,686,920 (+)	NCBI	Rnor_SHR	UTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0	10	63,191,588 - 63,192,526 (+)	NCBI	Rnor_SHRSP	UTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0	10	58,686,175 - 58,687,113 (+)	NCBI	Rnor_WKY	UTH_Rnor_WKY_Bbb_1.0
Rnor_6.0	10	61,033,113 - 61,034,051 (+)	NCBI	Rnor6.0	Rnor_6.0	rn6	Rnor6.0
Rnor_6.0 Ensembl	10	61,033,113 - 61,034,051 (+)	Ensembl	Rnor6.0		rn6	Rnor6.0
Rnor_5.0	10	60,765,095 - 60,766,033 (+)	NCBI	Rnor5.0	Rnor_5.0	rn5	Rnor5.0
RGSC_v3.4	10	61,481,889 - 61,482,827 (+)	NCBI	RGSC3.4	RGSC_v3.4	rn4	RGSC3.4
Celera	10	58,100,061 - 58,100,999 (+)	NCBI		Celera
RGSC_v3.1	10	61,495,511 - 61,496,450 (+)	NCBI
Cytogenetic Map	10	q24	NCBI

LOC100990999
(Pan paniscus - bonobo/pygmy chimpanzee)

Bonobo Assembly	Chr	Position (strand)	Source	Genome Browsers
Bonobo Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
NHGRI_mPanPan1-v2	19	10,788,812 - 10,807,855 (+)	NCBI		NHGRI_mPanPan1-v2
NHGRI_mPanPan1	17	12,755,145 - 12,774,188 (+)	NCBI		NHGRI_mPanPan1
Mhudiblu_PPA_v0	17	3,213,727 - 3,214,656 (+)	NCBI	Mhudiblu_PPA_v0	Mhudiblu_PPA_v0	panPan3
PanPan1.1	17	3,214,327 - 3,215,256 (+)	NCBI	panpan1.1	PanPan1.1	panPan2
PanPan1.1 Ensembl	17	3,214,327 - 3,215,256 (+)	Ensembl	panpan1.1		panPan2

OR1A1
(Canis lupus familiaris - dog)

Dog Assembly	Chr	Position (strand)	Source	Genome Browsers
Dog Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
CanFam3.1	9	47,120,640 - 47,121,569 (-)	NCBI	CanFam3.1	CanFam3.1	canFam3	CanFam3.1
CanFam3.1 Ensembl	9	47,120,640 - 47,121,569 (-)	Ensembl	CanFam3.1		canFam3	CanFam3.1
Dog10K_Boxer_Tasha	9	46,272,522 - 46,273,451 (-)	NCBI		Dog10K_Boxer_Tasha
ROS_Cfam_1.0	9	47,955,628 - 47,956,557 (-)	NCBI		ROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl	9	47,955,628 - 47,956,557 (-)	Ensembl		ROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1	9	46,719,492 - 46,720,421 (-)	NCBI		UMICH_Zoey_3.1
UNSW_CanFamBas_1.0	9	47,015,897 - 47,016,826 (-)	NCBI		UNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0	9	47,069,258 - 47,070,188 (-)	NCBI		UU_Cfam_GSD_1.0

LOC110256089
(Sus scrofa - pig)

Pig Assembly	Chr	Position (strand)	Source	Genome Browsers
Pig Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
Sscrofa11.1	12	49,342,371 - 49,344,267 (-)	NCBI	Sscrofa11.1	Sscrofa11.1	susScr11	Sscrofa11.1

LOC103242143
(Chlorocebus sabaeus - green monkey)

Green Monkey Assembly	Chr	Position (strand)	Source	Genome Browsers
Green Monkey Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
ChlSab1.1	16	2,663,337 - 2,670,311 (-)	NCBI	ChlSab1.1	ChlSab1.1	chlSab2
ChlSab1.1 Ensembl	16	2,668,273 - 2,669,199 (-)	Ensembl	ChlSab1.1	ChlSab1.1 Ensembl	chlSab2
Vero_WHO_p1.0	NW_023666059	19,232,454 - 19,233,392 (+)	NCBI	Vero_WHO_p1.0	Vero_WHO_p1.0

Variants

Variants in OR1A1
34 total Variants

Clinical Variants

Name	Type	Condition(s)	Position(s)	Clinical significance
GRCh38/hg38 17p13.3-13.2(chr17:2357067-4328426)x3	copy number gain	See cases [RCV000052456]	Chr17:2357067..4328426 [GRCh38] Chr17:2260361..4231721 [GRCh37] Chr17:2207111..4178470 [NCBI36] Chr17:17p13.3-13.2	pathogenic
GRCh38/hg38 17p13.3-13.2(chr17:193307-5652222)x1	copy number loss	See cases [RCV000053384]	Chr17:193307..5652222 [GRCh38] Chr17:45835..5555542 [GRCh37] Chr17:43098..5496266 [NCBI36] Chr17:17p13.3-13.2	pathogenic
GRCh38/hg38 17p13.3-13.2(chr17:198748-3436345)x1	copy number loss	Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053386]\|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053386]\|See cases [RCV000053386]	Chr17:198748..3436345 [GRCh38] Chr17:50690..3339639 [GRCh37] Chr17:48539..3286389 [NCBI36] Chr17:17p13.3-13.2	pathogenic
GRCh38/hg38 17p13.3-13.2(chr17:2527510-3467165)x1	copy number loss	See cases [RCV000053405]	Chr17:2527510..3467165 [GRCh38] Chr17:2430804..3370459 [GRCh37] Chr17:2377554..3317209 [NCBI36] Chr17:17p13.3-13.2	pathogenic
GRCh38/hg38 17p13.3-13.2(chr17:3036729-3684667)x3	copy number gain	See cases [RCV000053972]	Chr17:3036729..3684667 [GRCh38] Chr17:2940023..3587961 [GRCh37] Chr17:2886773..3534710 [NCBI36] Chr17:17p13.3-13.2	uncertain significance
GRCh38/hg38 17p13.3-13.2(chr17:3208843-3839780)x3	copy number gain	Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053973]\|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053973]\|See cases [RCV000053973]	Chr17:3208843..3839780 [GRCh38] Chr17:3112137..3743074 [GRCh37] Chr17:3058887..3689823 [NCBI36] Chr17:17p13.3-13.2	uncertain significance
NM_014565.2(OR1A1):c.221C>T (p.Ser74Leu)	single nucleotide variant	Malignant melanoma [RCV000071406]	Chr17:3215841 [GRCh38] Chr17:3119135 [GRCh37] Chr17:3065885 [NCBI36] Chr17:17p13.3	not provided
NM_014565.2(OR1A1):c.606G>A (p.Gly202=)	single nucleotide variant	Malignant melanoma [RCV000071407]	Chr17:3216226 [GRCh38] Chr17:3119520 [GRCh37] Chr17:3066270 [NCBI36] Chr17:17p13.3	not provided
NM_014565.2(OR1A1):c.813G>A (p.Val271=)	single nucleotide variant	Malignant melanoma [RCV000063191]	Chr17:3216433 [GRCh38] Chr17:3119727 [GRCh37] Chr17:3066477 [NCBI36] Chr17:17p13.3	not provided
GRCh38/hg38 17p13.3-13.2(chr17:2062380-5258340)x1	copy number loss	See cases [RCV000133721]	Chr17:2062380..5258340 [GRCh38] Chr17:1965674..5161635 [GRCh37] Chr17:1912424..5102359 [NCBI36] Chr17:17p13.3-13.2	pathogenic
GRCh38/hg38 17p13.3-13.1(chr17:162088-6959050)x1	copy number loss	See cases [RCV000134135]	Chr17:162088..6959050 [GRCh38] Chr17:45835..6862369 [GRCh37] Chr17:11879..6803093 [NCBI36] Chr17:17p13.3-13.1	pathogenic
GRCh38/hg38 17p13.3-13.2(chr17:3155468-3543868)x1	copy number loss	See cases [RCV000133921]	Chr17:3155468..3543868 [GRCh38] Chr17:3058762..3447162 [GRCh37] Chr17:3005512..3393912 [NCBI36] Chr17:17p13.3-13.2	benign
GRCh38/hg38 17p13.3-13.1(chr17:198748-7491129)x3	copy number gain	See cases [RCV000134970]	Chr17:198748..7491129 [GRCh38] Chr17:50690..7394448 [GRCh37] Chr17:48539..7335172 [NCBI36] Chr17:17p13.3-13.1	pathogenic
GRCh38/hg38 17p13.3-13.2(chr17:226472-3655099)x1	copy number loss	See cases [RCV000135857]	Chr17:226472..3655099 [GRCh38] Chr17:396627..3558393 [GRCh37] Chr17:76263..3505142 [NCBI36] Chr17:17p13.3-13.2	pathogenic
GRCh38/hg38 17p13.3-13.2(chr17:1348488-3513273)x3	copy number gain	See cases [RCV000137603]	Chr17:1348488..3513273 [GRCh38] Chr17:1251782..3416567 [GRCh37] Chr17:1198532..3363317 [NCBI36] Chr17:17p13.3-13.2	likely pathogenic
GRCh38/hg38 17p13.3-13.2(chr17:3102273-3667053)x3	copy number gain	See cases [RCV000137331]	Chr17:3102273..3667053 [GRCh38] Chr17:3005567..3570347 [GRCh37] Chr17:2952317..3517096 [NCBI36] Chr17:17p13.3-13.2	likely pathogenic\|uncertain significance
GRCh38/hg38 17p13.3-13.1(chr17:162016-7697012)x1	copy number loss	See cases [RCV000138214]	Chr17:162016..7697012 [GRCh38] Chr17:45835..7600330 [GRCh37] Chr17:11807..7541055 [NCBI36] Chr17:17p13.3-13.1	pathogenic
GRCh38/hg38 17p13.3-12(chr17:162016-12343901)x3	copy number gain	See cases [RCV000138531]	Chr17:162016..12343901 [GRCh38] Chr17:45835..12247218 [GRCh37] Chr17:11807..12187943 [NCBI36] Chr17:17p13.3-12	pathogenic
GRCh38/hg38 17p13.3-13.2(chr17:2062429-4141883)x3	copy number gain	See cases [RCV000139738]	Chr17:2062429..4141883 [GRCh38] Chr17:1965723..4045177 [GRCh37] Chr17:1912473..3991926 [NCBI36] Chr17:17p13.3-13.2	pathogenic
GRCh38/hg38 17p13.3-13.2(chr17:150732-5935377)x1	copy number loss	See cases [RCV000141658]	Chr17:150732..5935377 [GRCh38] Chr17:525..5838697 [GRCh37] Chr17:525..5779421 [NCBI36] Chr17:17p13.3-13.2	pathogenic
GRCh38/hg38 17p13.3-13.2(chr17:237248-4735533)x1	copy number loss	See cases [RCV000141559]	Chr17:237248..4735533 [GRCh38] Chr17:396627..4638828 [GRCh37] Chr17:87039..4585577 [NCBI36] Chr17:17p13.3-13.2	pathogenic
GRCh38/hg38 17p13.3(chr17:150732-3242868)x1	copy number loss	See cases [RCV000142323]	Chr17:150732..3242868 [GRCh38] Chr17:525..3146162 [GRCh37] Chr17:525..3092912 [NCBI36] Chr17:17p13.3	pathogenic
GRCh38/hg38 17p13.3-13.2(chr17:3168370-3862518)x3	copy number gain	See cases [RCV000142062]	Chr17:3168370..3862518 [GRCh38] Chr17:3071664..3765812 [GRCh37] Chr17:3018414..3712561 [NCBI36] Chr17:17p13.3-13.2	uncertain significance
GRCh38/hg38 17p13.3-12(chr17:150732-14764202)x3	copy number gain	See cases [RCV000142236]	Chr17:150732..14764202 [GRCh38] Chr17:525..14667519 [GRCh37] Chr17:525..14608244 [NCBI36] Chr17:17p13.3-12	pathogenic
GRCh38/hg38 17p13.3-13.2(chr17:2922729-3436438)x3	copy number gain	See cases [RCV000142895]	Chr17:2922729..3436438 [GRCh38] Chr17:2826023..3339732 [GRCh37] Chr17:2772773..3286482 [NCBI36] Chr17:17p13.3-13.2	pathogenic
GRCh38/hg38 17p13.3-13.2(chr17:3187406-3880628)x3	copy number gain	See cases [RCV000142793]	Chr17:3187406..3880628 [GRCh38] Chr17:3090700..3783922 [GRCh37] Chr17:3037450..3730671 [NCBI36] Chr17:17p13.3-13.2	uncertain significance
GRCh38/hg38 17p13.3-13.2(chr17:3168370-3852982)x3	copy number gain	See cases [RCV000143610]	Chr17:3168370..3852982 [GRCh38] Chr17:3071664..3756276 [GRCh37] Chr17:3018414..3703025 [NCBI36] Chr17:17p13.3-13.2	likely benign\|uncertain significance
GRCh37/hg19 17p13.3-13.2(chr17:1751557-5378509)x1	copy number loss	See cases [RCV000445994]	Chr17:1751557..5378509 [GRCh37] Chr17:17p13.3-13.2	pathogenic
GRCh37/hg19 17p13.3-13.1(chr17:1113102-6742486)	copy number gain	See cases [RCV000445679]	Chr17:1113102..6742486 [GRCh37] Chr17:17p13.3-13.1	pathogenic
GRCh37/hg19 17p13.3-13.2(chr17:48858-3379400)x1	copy number loss	See cases [RCV000448506]	Chr17:48858..3379400 [GRCh37] Chr17:17p13.3-13.2	pathogenic
GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)	copy number gain	See cases [RCV000511439]	Chr17:526..81041938 [GRCh37] Chr17:17p13.3-q25.3	pathogenic
GRCh37/hg19 17p13.3-13.2(chr17:525-3825428)x1	copy number loss	See cases [RCV000511508]	Chr17:525..3825428 [GRCh37] Chr17:17p13.3-13.2	pathogenic
GRCh37/hg19 17p13.3-12(chr17:525-15027737)x3	copy number gain	See cases [RCV000511786]	Chr17:525..15027737 [GRCh37] Chr17:17p13.3-12	pathogenic
GRCh37/hg19 17p13.3-13.2(chr17:1922768-3429136)x3	copy number gain	See cases [RCV000511855]	Chr17:1922768..3429136 [GRCh37] Chr17:17p13.3-13.2	likely pathogenic
GRCh37/hg19 17p13.3-13.2(chr17:2339561-3447162)	copy number loss	Lissencephaly [RCV000626516]	Chr17:2339561..3447162 [GRCh37] Chr17:17p13.3-13.2	pathogenic
GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)x3	copy number gain	See cases [RCV000512441]	Chr17:526..81041938 [GRCh37] Chr17:17p13.3-q25.3	pathogenic
GRCh37/hg19 17p13.3-13.2(chr17:525-4151421)x3	copy number gain	See cases [RCV000512413]	Chr17:525..4151421 [GRCh37] Chr17:17p13.3-13.2	pathogenic
GRCh37/hg19 17p13.3-12(chr17:525-11186432)x3	copy number gain	not provided [RCV000683866]	Chr17:525..11186432 [GRCh37] Chr17:17p13.3-12	pathogenic
GRCh37/hg19 17p13.3(chr17:2834635-3206175)x3	copy number gain	not provided [RCV000683877]	Chr17:2834635..3206175 [GRCh37] Chr17:17p13.3	likely benign
GRCh37/hg19 17p13.3-13.2(chr17:2944083-3429136)x3	copy number gain	not provided [RCV000683878]	Chr17:2944083..3429136 [GRCh37] Chr17:17p13.3-13.2	uncertain significance
GRCh37/hg19 17p13.3-q25.3(chr17:12344-81057996)x3	copy number gain	not provided [RCV000739325]	Chr17:12344..81057996 [GRCh37] Chr17:17p13.3-q25.3	pathogenic
GRCh37/hg19 17p13.3-q25.3(chr17:8547-81060040)x3	copy number gain	not provided [RCV000739324]	Chr17:8547..81060040 [GRCh37] Chr17:17p13.3-q25.3	pathogenic
GRCh37/hg19 17p13.3-q25.3(chr17:7214-81058310)x3	copy number gain	not provided [RCV000739320]	Chr17:7214..81058310 [GRCh37] Chr17:17p13.3-q25.3	pathogenic
GRCh37/hg19 17p13.3-13.2(chr17:7214-3871323)x1	copy number loss	not provided [RCV000739319]	Chr17:7214..3871323 [GRCh37] Chr17:17p13.3-13.2	pathogenic
GRCh37/hg19 17p13.3(chr17:3098544-3119767)x3	copy number gain	not provided [RCV000739372]	Chr17:3098544..3119767 [GRCh37] Chr17:17p13.3	benign
GRCh37/hg19 17p13.3(chr17:3057412-3228987)x1	copy number loss	not provided [RCV001006858]	Chr17:3057412..3228987 [GRCh37] Chr17:17p13.3	likely benign
NM_014565.3(OR1A1):c.830C>T (p.Thr277Met)	single nucleotide variant	not provided [RCV000959337]	Chr17:3216450 [GRCh38] Chr17:3119744 [GRCh37] Chr17:17p13.3	benign
GRCh37/hg19 17p13.3-13.2(chr17:47546-6287620)	copy number gain	Chromosome 17P13.3, telomeric, duplication syndrome [RCV000767586]	Chr17:47546..6287620 [GRCh37] Chr17:17p13.3-13.2	pathogenic
NM_014565.3(OR1A1):c.125A>G (p.Asn42Ser)	single nucleotide variant	not specified [RCV004309730]	Chr17:3215745 [GRCh38] Chr17:3119039 [GRCh37] Chr17:17p13.3	uncertain significance
GRCh37/hg19 17p13.3(chr17:3039323-3237621)x1	copy number loss	not provided [RCV001007494]	Chr17:3039323..3237621 [GRCh37] Chr17:17p13.3	likely benign
GRCh37/hg19 17p13.3-13.2(chr17:8547-5627408)x1	copy number loss	See cases [RCV001007429]	Chr17:8547..5627408 [GRCh37] Chr17:17p13.3-13.2	pathogenic
NM_014565.3(OR1A1):c.259T>G (p.Leu87Val)	single nucleotide variant	not specified [RCV004308389]	Chr17:3215879 [GRCh38] Chr17:3119173 [GRCh37] Chr17:17p13.3	uncertain significance
NM_014565.3(OR1A1):c.601C>T (p.Leu201=)	single nucleotide variant	not provided [RCV000968732]	Chr17:3216221 [GRCh38] Chr17:3119515 [GRCh37] Chr17:17p13.3	benign
GRCh37/hg19 17p13.3(chr17:2966291-3247171)x3	copy number gain	not provided [RCV001006857]	Chr17:2966291..3247171 [GRCh37] Chr17:17p13.3	likely benign
GRCh37/hg19 17p13.3-13.2(chr17:2313096-3735525)x1	copy number loss	not provided [RCV001537893]	Chr17:2313096..3735525 [GRCh37] Chr17:17p13.3-13.2	pathogenic
GRCh37/hg19 17p13.3-13.2(chr17:2809266-3424183)x3	copy number gain	not provided [RCV001827915]	Chr17:2809266..3424183 [GRCh37] Chr17:17p13.3-13.2	uncertain significance
GRCh37/hg19 17p13.3-13.2(chr17:2646815-3698838)x3	copy number gain	not provided [RCV001834365]	Chr17:2646815..3698838 [GRCh37] Chr17:17p13.3-13.2	uncertain significance
NC_000017.10:g.(?_1173858)_(3819519_?)dup	duplication	not provided [RCV002014058]	Chr17:1173858..3819519 [GRCh37] Chr17:17p13.3-13.2	uncertain significance
NC_000017.10:g.(?_2541583)_(3819519_?)del	deletion	not provided [RCV001901409]	Chr17:2541583..3819519 [GRCh37] Chr17:17p13.3-13.2	pathogenic
GRCh37/hg19 17p13.3-13.2(chr17:1095592-3484368)x3	copy number gain	not provided [RCV002472591]	Chr17:1095592..3484368 [GRCh37] Chr17:17p13.3-13.2	pathogenic
NM_014565.3(OR1A1):c.416G>A (p.Arg139Gln)	single nucleotide variant	not specified [RCV004208318]	Chr17:3216036 [GRCh38] Chr17:3119330 [GRCh37] Chr17:17p13.3	uncertain significance
NM_014565.3(OR1A1):c.296C>T (p.Thr99Met)	single nucleotide variant	not specified [RCV004188266]	Chr17:3215916 [GRCh38] Chr17:3119210 [GRCh37] Chr17:17p13.3	uncertain significance
NM_014565.3(OR1A1):c.565T>G (p.Cys189Gly)	single nucleotide variant	not specified [RCV004134409]	Chr17:3216185 [GRCh38] Chr17:3119479 [GRCh37] Chr17:17p13.3	uncertain significance
NM_014565.3(OR1A1):c.779G>A (p.Arg260His)	single nucleotide variant	not specified [RCV004192785]	Chr17:3216399 [GRCh38] Chr17:3119693 [GRCh37] Chr17:17p13.3	uncertain significance
NM_014565.3(OR1A1):c.770C>G (p.Thr257Arg)	single nucleotide variant	not specified [RCV004085161]	Chr17:3216390 [GRCh38] Chr17:3119684 [GRCh37] Chr17:17p13.3	uncertain significance
NM_014565.3(OR1A1):c.649T>C (p.Tyr217His)	single nucleotide variant	not specified [RCV004247181]	Chr17:3216269 [GRCh38] Chr17:3119563 [GRCh37] Chr17:17p13.3	uncertain significance
NM_014565.3(OR1A1):c.188T>G (p.Leu63Arg)	single nucleotide variant	not specified [RCV004211928]	Chr17:3215808 [GRCh38] Chr17:3119102 [GRCh37] Chr17:17p13.3	uncertain significance
NM_014565.3(OR1A1):c.830C>G (p.Thr277Arg)	single nucleotide variant	not specified [RCV004186975]	Chr17:3216450 [GRCh38] Chr17:3119744 [GRCh37] Chr17:17p13.3	uncertain significance
NM_014565.3(OR1A1):c.235C>A (p.Pro79Thr)	single nucleotide variant	not specified [RCV004226229]	Chr17:3215855 [GRCh38] Chr17:3119149 [GRCh37] Chr17:17p13.3	uncertain significance
NM_014565.3(OR1A1):c.382C>T (p.Arg128Cys)	single nucleotide variant	not specified [RCV004252670]	Chr17:3216002 [GRCh38] Chr17:3119296 [GRCh37] Chr17:17p13.3	uncertain significance
NM_014565.3(OR1A1):c.835G>A (p.Val279Met)	single nucleotide variant	not specified [RCV004254218]	Chr17:3216455 [GRCh38] Chr17:3119749 [GRCh37] Chr17:17p13.3	uncertain significance
NM_014565.3(OR1A1):c.374C>A (p.Ala125Asp)	single nucleotide variant	not specified [RCV004359300]	Chr17:3215994 [GRCh38] Chr17:3119288 [GRCh37] Chr17:17p13.3	uncertain significance
Single allele	deletion	not provided [RCV003448682]	Chr17:2..4611147 [GRCh37] Chr17:17p13.3-13.2	pathogenic
GRCh37/hg19 17p13.3-13.2(chr17:2433587-3484368)x1	copy number loss	not provided [RCV003483311]	Chr17:2433587..3484368 [GRCh37] Chr17:17p13.3-13.2	pathogenic
GRCh37/hg19 17p13.3-13.2(chr17:526-3441645)x1	copy number loss	not provided [RCV003483307]	Chr17:526..3441645 [GRCh37] Chr17:17p13.3-13.2	pathogenic
NM_014565.3(OR1A1):c.831G>A (p.Thr277=)	single nucleotide variant	not provided [RCV003428055]	Chr17:3216451 [GRCh38] Chr17:3119745 [GRCh37] Chr17:17p13.3	likely benign
GRCh37/hg19 17p13.3-13.2(chr17:9474-6017500)x1	copy number loss	not specified [RCV003987214]	Chr17:9474..6017500 [GRCh37] Chr17:17p13.3-13.2	pathogenic
GRCh37/hg19 17p13.3-11.2(chr17:525-21510992)x3	copy number gain	not specified [RCV003987215]	Chr17:525..21510992 [GRCh37] Chr17:17p13.3-11.2	pathogenic
GRCh37/hg19 17p13.3-13.2(chr17:2674657-3484368)x3	copy number gain	not specified [RCV003987223]	Chr17:2674657..3484368 [GRCh37] Chr17:17p13.3-13.2	uncertain significance
NM_014565.3(OR1A1):c.266G>A (p.Ser89Asn)	single nucleotide variant	not specified [RCV004501712]	Chr17:3215886 [GRCh38] Chr17:3119180 [GRCh37] Chr17:17p13.3	uncertain significance
NM_014565.3(OR1A1):c.903A>C (p.Lys301Asn)	single nucleotide variant	not specified [RCV004501714]	Chr17:3216523 [GRCh38] Chr17:3119817 [GRCh37] Chr17:17p13.3	uncertain significance
NM_014565.3(OR1A1):c.571G>C (p.Asp191His)	single nucleotide variant	not specified [RCV004501713]	Chr17:3216191 [GRCh38] Chr17:3119485 [GRCh37] Chr17:17p13.3	uncertain significance
NC_000017.10:g.(?_422368)_(8285628_?)dup	duplication	not provided [RCV004581443]	Chr17:422368..8285628 [GRCh37] Chr17:17p13.3-13.1	uncertain significance
NM_014565.3(OR1A1):c.16C>A (p.Gln6Lys)	single nucleotide variant	not specified [RCV004646246]	Chr17:3215636 [GRCh38] Chr17:3118930 [GRCh37] Chr17:17p13.3	uncertain significance
NM_014565.3(OR1A1):c.464A>G (p.Asn155Ser)	single nucleotide variant	not specified [RCV004655309]	Chr17:3216084 [GRCh38] Chr17:3119378 [GRCh37] Chr17:17p13.3	uncertain significance
NM_014565.3(OR1A1):c.361G>A (p.Asp121Asn)	single nucleotide variant	not specified [RCV004838635]	Chr17:3215981 [GRCh38] Chr17:3119275 [GRCh37] Chr17:17p13.3	uncertain significance
NM_014565.3(OR1A1):c.656G>A (p.Arg219Gln)	single nucleotide variant	not specified [RCV004838636]	Chr17:3216276 [GRCh38] Chr17:3119570 [GRCh37] Chr17:17p13.3	uncertain significance
NM_014565.3(OR1A1):c.877C>T (p.Arg293Trp)	single nucleotide variant	not specified [RCV004838637]	Chr17:3216497 [GRCh38] Chr17:3119791 [GRCh37] Chr17:17p13.3	uncertain significance
NM_014565.3(OR1A1):c.883A>T (p.Met295Leu)	single nucleotide variant	not specified [RCV004838634]	Chr17:3216503 [GRCh38] Chr17:3119797 [GRCh37] Chr17:17p13.3	uncertain significance
NM_014565.3(OR1A1):c.43C>A (p.Leu15Met)	single nucleotide variant	not specified [RCV004838638]	Chr17:3215663 [GRCh38] Chr17:3118957 [GRCh37] Chr17:17p13.3	uncertain significance
NM_014565.3(OR1A1):c.736G>A (p.Val246Ile)	single nucleotide variant	not specified [RCV004835054]	Chr17:3216356 [GRCh38] Chr17:3119650 [GRCh37] Chr17:17p13.3	uncertain significance
NM_014565.3(OR1A1):c.758C>T (p.Thr253Ile)	single nucleotide variant	not specified [RCV004835053]	Chr17:3216378 [GRCh38] Chr17:3119672 [GRCh37] Chr17:17p13.3	uncertain significance
NM_014565.3(OR1A1):c.799C>G (p.Leu267Val)	single nucleotide variant	not specified [RCV005395154]	Chr17:3216419 [GRCh38] Chr17:3119713 [GRCh37] Chr17:17p13.3	uncertain significance
NM_014565.3(OR1A1):c.261G>C (p.Leu87Phe)	single nucleotide variant	not specified [RCV005385914]	Chr17:3215881 [GRCh38] Chr17:3119175 [GRCh37] Chr17:17p13.3	uncertain significance
NM_014565.3(OR1A1):c.727C>T (p.His243Tyr)	single nucleotide variant	not specified [RCV005385915]	Chr17:3216347 [GRCh38] Chr17:3119641 [GRCh37] Chr17:17p13.3	uncertain significance
NM_014565.3(OR1A1):c.787A>G (p.Thr263Ala)	single nucleotide variant	not specified [RCV005385916]	Chr17:3216407 [GRCh38] Chr17:3119701 [GRCh37] Chr17:17p13.3	uncertain significance
NM_014565.3(OR1A1):c.808G>C (p.Ala270Pro)	single nucleotide variant	not specified [RCV005385917]	Chr17:3216428 [GRCh38] Chr17:3119722 [GRCh37] Chr17:17p13.3	uncertain significance
NM_014565.3(OR1A1):c.514C>G (p.Gln172Glu)	single nucleotide variant	not specified [RCV005385919]	Chr17:3216134 [GRCh38] Chr17:3119428 [GRCh37] Chr17:17p13.3	uncertain significance
NM_014565.3(OR1A1):c.538G>A (p.Asp180Asn)	single nucleotide variant	not specified [RCV005385920]	Chr17:3216158 [GRCh38] Chr17:3119452 [GRCh37] Chr17:17p13.3	uncertain significance
GRCh37/hg19 17p13.3-13.2(chr17:2374401-3949734)x3	copy number gain	not provided [RCV004819627]	Chr17:2374401..3949734 [GRCh37] Chr17:17p13.3-13.2	uncertain significance
GRCh38/hg38 17p13.3-13.2(chr17:198748-4265640)x1	copy number loss	See cases [RCV000142440]	Chr17:198748..4265640 [GRCh38] Chr17:50690..4168935 [GRCh37] Chr17:48539..4115684 [NCBI36] Chr17:17p13.3-13.2	pathogenic
GRCh37/hg19 17p13.3-13.2(chr17:919381-4046915)x3	copy number gain	See cases [RCV000240175]	Chr17:919381..4046915 [GRCh37] Chr17:17p13.3-13.2	pathogenic
GRCh37/hg19 17p13.3-13.2(chr17:2050166-4315506)x1	copy number loss	not provided [RCV000751897]	Chr17:2050166..4315506 [GRCh37] Chr17:17p13.3-13.2	pathogenic
GRCh38/hg38 17p13.3-12(chr17:165730-11404096)x3	copy number gain	Chromosome 17p13.3 duplication syndrome [RCV003327726]	Chr17:165730..11404096 [GRCh38] Chr17:17p13.3-12	pathogenic
NM_014565.3(OR1A1):c.298C>A (p.Gln100Lys)	single nucleotide variant	not specified [RCV004351332]	Chr17:3215918 [GRCh38] Chr17:3119212 [GRCh37] Chr17:17p13.3	uncertain significance
NM_014565.3(OR1A1):c.122G>C (p.Gly41Ala)	single nucleotide variant	not specified [RCV004501710]	Chr17:3215742 [GRCh38] Chr17:3119036 [GRCh37] Chr17:17p13.3	uncertain significance
GRCh37/hg19 17p13.3-13.2(chr17:9475-3793447)x1	copy number loss	not provided [RCV004819390]	Chr17:9475..3793447 [GRCh37] Chr17:17p13.3-13.2	pathogenic

miRNA Target Status (No longer updated)

Predicted Target Of

	Summary Value
Count of predictions:	162
Count of miRNA genes:	156
Interacting mature miRNAs:	162
Transcripts:	ENST00000304094
Prediction methods:	Miranda, Rnahybrid
Result types:	miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.

QTLs in Region (GRCh38)

The following QTLs overlap with this region.

RGD ID	Symbol	Name	LOD	P Value	Trait	Sub Trait	Chr	Start	Stop	Species
597163759	GWAS1259833_H	pyridoxate measurement QTL GWAS1259833 (human)		0.000008	vitamin metabolism trait (VT:0015087)		17	3212295	3212296	Human

Markers in Region

OR1A1__5966

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	17	3,119,213 - 3,120,033	UniSTS	GRCh37
Build 36	17	3,065,963 - 3,066,783	RGD	NCBI36
Celera	17	3,137,282 - 3,138,102	RGD
HuRef	17	3,011,468 - 3,012,288	UniSTS

UniSTS:480759

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	17	3,118,915 - 3,119,844	UniSTS	GRCh37
Celera	17	3,136,984 - 3,137,913	UniSTS
HuRef	17	3,011,170 - 3,012,099	UniSTS

Expression

RNA-SEQ Expression

Click on a value in the shaded box below the category label to view a detailed expression data table for that system.

Download All Expressed Objects for this Gene

adipose tissue	alimentary part of gastrointestinal system	appendage	circulatory system	ectoderm	endocrine system	endoderm	exocrine system	hemolymphoid system	hepatobiliary system	integumental system	mesenchyme	mesoderm	nervous system	renal system	reproductive system	respiratory system	sensory system
40	100	108	86	187	55	72	11	101	6	81	284	267	149	27	126	58	5

Sequence

Nucleotide Sequences


RefSeq Transcripts	NM_001386104	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_014565	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
GenBank Nucleotide	AC090282	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AF087918	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AF399555	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC069169	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC128248	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC141934	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC141935	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BK004241	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CH471108	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CP068261	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	KP290346	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	KP290552	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	KP290553	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	KP290554	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	KP290555	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles

Ensembl Acc Id:

ENST00000304094 ⟹ ENSP00000305207

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	17	3,215,621 - 3,216,550 (+)	Ensembl

Ensembl Acc Id:

ENST00000641322 ⟹ ENSP00000492897

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	17	3,207,539 - 3,218,896 (+)	Ensembl

Ensembl Acc Id:

ENST00000641732 ⟹ ENSP00000493179

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	17	3,207,667 - 3,218,896 (+)	Ensembl

Ensembl Acc Id:

ENST00000642014

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	17	3,207,539 - 3,215,194 (+)	Ensembl

RefSeq Acc Id:

NM_001386104 ⟹ NP_001373033

RefSeq Status:

VALIDATED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	17	3,207,667 - 3,218,896 (+)	NCBI
T2T-CHM13v2.0	17	3,095,937 - 3,107,165 (+)	NCBI

Sequence:

show sequence

CTCTTGTCCCTTCGGCTCCCCTGTTGGGAAACTGGGGACTCCTCCTTCTAAACCATCCCATTCC
TGTGTCCTCCACCTCAGGAACAGAGGATTGTTCCCCATCCTGCCACTGCTTCTCCAGCATGGCT
GCCCTCAAACGGGATGCTAGCAGGTGCTAGATGAACTAACTGCAAACTTCCTTTCTGTGGAGGA
GAAGTGAAGGCCACAGGGCCAGGACCCTTTTTAAAAGCATCTGAACTGACTCCACAGATAGGGA
CTTAGACATTGGAAGAGACTGTATCACAGCAACATCAAAGGGTAGACAGCCAGCAACTGTAGGC
TACTTGCCCAAGAGAAGCCATGAGGGAAAATAACCAGTCCTCTACACTGGAATTCATCCTCCTG
GGAGTTACTGGTCAGCAGGAACAGGAAGATTTCTTCTACATCCTCTTCTTGTTCATTTACCCCA
TCACATTGATTGGAAACCTGCTCATCGTCCTAGCCATTTGCTCTGATGTTCGCCTTCACAACCC
CATGTATTTTCTCCTTGCCAACCTCTCCTTGGTTGACATCTTCTTCTCATCGGTAACCATCCCT
AAGATGCTGGCCAACCATCTCTTGGGCAGCAAATCCATCTCTTTTGGGGGATGCCTAACGCAGA
TGTATTTCATGATAGCCTTGGGTAACACAGACAGCTATATTTTGGCTGCAATGGCATATGATCG
AGCTGTGGCCATCAGCCGCCCACTTCACTACACAACAATTATGAGTCCACGGTCTTGTATCTGG
CTTATTGCTGGGTCTTGGGTGATTGGAAATGCCAATGCCCTCCCCCACACTCTGCTCACAGCTA
GTCTGTCCTTCTGTGGCAACCAGGAAGTGGCCAACTTCTACTGTGACATTACCCCCTTGCTGAA
GTTATCCTGTTCTGACATCCACTTTCATGTGAAGATGATGTACCTAGGGGTTGGCATTTTCTCT
GTGCCATTACTATGCATCATTGTCTCCTATATTCGAGTCTTCTCCACAGTCTTCCAGGTTCCTT
CCACCAAGGGCGTGCTCAAGGCCTTCTCCACCTGTGGTTCCCACCTCACGGTTGTCTCTTTGTA
TTATGGTACAGTCATGGGCACGTATTTCCGCCCTTTGACCAATTATAGCCTAAAAGACGCAGTG
ATCACTGTAATGTACACGGCAGTGACCCCAATGTTAAATCCTTTCATCTACAGTCTGAGAAATC
GGGACATGAAGGCTGCCCTGCGGAAACTCTTCAACAAGAGAATCTCCTCGTAACCAATGTGAGG
GCCTACATTGGATACCGTAGTCACCAGTTACGGTATATTGGAAATCCAGTTCTGATGTCATCCT
CCTACGAGAGGCAGTCTCTGATCTTTCTAGCCTGAAATTCCTAATCTCAGAACTCTTATAACAT
TTTAATAAGTTAATAATAAGTGATTATTGAAATTACCACTTTCAACTCATTGCTGCTCTTTTTG
GCAGAGTGGCAGCACAGGGATATAGGGCATATGTCCTGATGAGCAGAGTCAAGTTGGGAAGATC
TGAGCCTCAGCTTTCACATCTACATGTTAGGAATAATAAGTGCCCTACATGGGTCACATGGTGT
GTTGATTACAATAGCTCATGCTTCCAAGATTATAAATCACTATTCATGTGTCCATTTTTATTTG
ACTGTTAAGTTTAATCACCCTTATTAGGCTTGCAAGCCTCTGAGGGCAGGAGTTGTTTTTACAC
ATCACTGTACCTTCCCAATCTTGGTCAGATAAAGTGCATCCAATAAATACTGGTGGAAGTGGAA
TGAATAAGATATTAATATCTGAAACGTAATATTATAATTAGGGATAATCAAACCAGACATTATT
TTCTCATCCTTTAAACCTTTCAAGAAACTCCCATTCACAAATGCTACAAAGGGAATAAAATACC
TAGGAATACAGCTTACAAGGGACATGAAGGAACTCTTCAAGGAAAACTAAAACCCACTGCTCAA
GGAAATAAGAGAGGACAAAAACAAATGGAAAAACATTCCATCCTCTTTTATACAAAGAATCAAT
ATCATGAAAATGGCCATACTGCCCAAAGTAATTTATAGATTCAATGCTATTCCCATCAAACTAC
CATTGACATTCTTCACAGAATTAGAAAACACTTCTTTAAATTTCGTATGGAACTAAAAAAGAGC
CCGTATATCCAAGACAATCATAAGCAAAAAGAACAAAGCTACAGGCATCATGCTACTTGACTTC
AAACTATACTACAAGGCTACAGTAACCAAAACAGCATGGTACTGGTACCAAAACAGACATGTAG
CCCAGTGGAACAGAACAGAGACCTCACAAATAACACCACACATCTACAACCATCTGATCTTTGA
CAAACCTGACAAAAACAAGAAATGGGGAAAGGATTCCCTATTTAATAAATGGTGTTGGGAAAAC
TGGCTAGCCATATGCAGAAAAATGAAACTGGACCCCTTTCTTACATCTTATACAAAAATTAACT
CAAGATGGATTAAAGGCTTAAACGTAAGACCTAAAACCATAAAAACCTTAGAAGAAAACGTAGG
CAATACCATTCAGGACATAGGCATGGGCAAACTTCATGTTTAAAACACCAAAAGCAATGGCAAC
AAAAGCCAAAATTGACAAATGGGATCTAATTAAACTAAAGAGCTTCTGCACAGCAAAAGAAACT
ATCATCAGAGTGAACAGGCAACCTACAGAATGGGAGAAAATTTTTGCCATCTATCCATCTGACA
AAGGGCTAATATCTAGAATCTACAAAGAACTTAAATTTACAGGAAAAAAACCACCCCATGAAAA
AGTGGGCGAAGGATATGAACAGACACTTCTCAAAAGAAGACATTTATGCAGCCAATAAACATAT
GAAAAAAAGCTCAACATCACTGGTCGTTAGAGAAATGCAAATCAAAACCACAATGAGACACCAT
CTCATGCCAGTTGGAATGGCGATCATTAAAAAGTAAGGAAACAACATATGCTGGAGAGGATGTG
GAGAAATAGGAAGGTTTTTACACTGTTGGTGGGAGTGTAAATTAGTTCAACTATCATGGAAGAC
AGTGTGGTGACTCCTCAAGGATCTAGAACCACAAATACCATTTGATCCAGTGATCCCATTACTG
GGTATATACCTAAAGGATTATAAATCATTCTACTATAAAGACACATGCACAAGTATATTTATTG
TGGCACTGTTCACAGTAGCAAAGACTTGGAACCAACCCAAATGCCCATCAATGATAGACTGGAT
GAAGAAAATGTGGCACATATACACCATGGAATACTACGCAGTCATAAAAAAGGATGAGTTCATG
TCCTTTGCAGGGACATGGATCAAGCTGGAAACCATCATTCTCAGCAAACTAACACAAGAAAAGA
AAACCAAACACTGCACGTTCTCACTCATAAGTGTGAGTTAAACAATGAGAACACATGGACACAA
GGAAGGGCACATCACACACCAGGGCCTGTCAGCGGGTTGGGGGCAAGAGGAGGGATAGCATTAG
GAGAAATACCTAATGCAGATGTCAGGCTGATGGATGCAGCAAACCACCATGGCACGTGTATACC
TATGTAACAAACCTGCATGTTCTGCACATGT

hide sequence

RefSeq Acc Id:

NM_014565 ⟹ NP_055380

RefSeq Status:

VALIDATED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	17	3,207,667 - 3,218,896 (+)	NCBI
GRCh37	17	3,118,915 - 3,119,844 (+)	RGD
Build 36	17	3,065,665 - 3,066,594 (+)	NCBI Archive
Celera	17	3,136,984 - 3,137,913 (+)	RGD
HuRef	17	3,011,170 - 3,012,099 (+)	RGD
CHM1_1	17	3,127,802 - 3,128,731 (+)	NCBI
T2T-CHM13v2.0	17	3,095,937 - 3,107,165 (+)	NCBI

Sequence:

show sequence

CTCTTGTCCCTTCGGCTCCCCTGTTGGGAAACTGGGGACTCCTCCTTCTAAACCATCCCATTCC
TGTGTCCTCCACCTCAGGAACAGAGGATTGTTCCCCATCCTGCCACTGCTTCTCCAGCATGGCT
GCCCTCAAACGGGATGCTAGCAGGTGCTAGATGAACTAACTGCAAACTTCCTTTCTGTGGAGGA
GAAGTGAAGGCCACAGGGCCAGGACCCTTTTTAAAAGCATCTGAACTGACTCCACAGATAGGGA
CTTAGACATTGGAAGAGACTGTATCACAGCAACATCAAAGGGTAGACAGCCAGCAACTGTAGGC
TACTTGCCCAAGAGAATTGTTCTCAGCACCACCCCATTCACATGGCTGATATCTCAGAGGATGA
CGCTTTCCAGGAAAGTGGGTATTAAAGGCGCCGCAATGTTCAAGGCCCTGACGTCATCCCAGTG
AACTCAAGGCCCGCTACGTCTCCAGCATGCATGTTGAGGCACCTCCTGGCTTCTCTTCTTGGTG
GTAGAGGGTCTTTTTACCTCTTTCCCCTAGTCTGATATATGGCCCCTGGGTCCCTCTTCCAGTA
TAAATAAACCTCCATTTATTCTCAACCTCTTTACAAGGAACATTCTATCTCCTACCTTAAATGA
AACATGAACTTGAGCCACCCAGCTCCATCGCTGTCCTCTGGACCAAATCATCACAGAACATGTG
AAATAACAACAGAAGCTCATCATCTAGATTATACAAATGGAACATTAGCAATGGGAACTGTCAA
CATCAACTTAGTCTGCCATGATGCCAAGAGCTCCACCTCTGAACTCACATATCCGTACCATATG
AGCTAACCATGCTCTCTGCCTCTCCAGATTTACTGAACGATTTGACACCTGAGAAGCCATGAGG
GAAAATAACCAGTCCTCTACACTGGAATTCATCCTCCTGGGAGTTACTGGTCAGCAGGAACAGG
AAGATTTCTTCTACATCCTCTTCTTGTTCATTTACCCCATCACATTGATTGGAAACCTGCTCAT
CGTCCTAGCCATTTGCTCTGATGTTCGCCTTCACAACCCCATGTATTTTCTCCTTGCCAACCTC
TCCTTGGTTGACATCTTCTTCTCATCGGTAACCATCCCTAAGATGCTGGCCAACCATCTCTTGG
GCAGCAAATCCATCTCTTTTGGGGGATGCCTAACGCAGATGTATTTCATGATAGCCTTGGGTAA
CACAGACAGCTATATTTTGGCTGCAATGGCATATGATCGAGCTGTGGCCATCAGCCGCCCACTT
CACTACACAACAATTATGAGTCCACGGTCTTGTATCTGGCTTATTGCTGGGTCTTGGGTGATTG
GAAATGCCAATGCCCTCCCCCACACTCTGCTCACAGCTAGTCTGTCCTTCTGTGGCAACCAGGA
AGTGGCCAACTTCTACTGTGACATTACCCCCTTGCTGAAGTTATCCTGTTCTGACATCCACTTT
CATGTGAAGATGATGTACCTAGGGGTTGGCATTTTCTCTGTGCCATTACTATGCATCATTGTCT
CCTATATTCGAGTCTTCTCCACAGTCTTCCAGGTTCCTTCCACCAAGGGCGTGCTCAAGGCCTT
CTCCACCTGTGGTTCCCACCTCACGGTTGTCTCTTTGTATTATGGTACAGTCATGGGCACGTAT
TTCCGCCCTTTGACCAATTATAGCCTAAAAGACGCAGTGATCACTGTAATGTACACGGCAGTGA
CCCCAATGTTAAATCCTTTCATCTACAGTCTGAGAAATCGGGACATGAAGGCTGCCCTGCGGAA
ACTCTTCAACAAGAGAATCTCCTCGTAACCAATGTGAGGGCCTACATTGGATACCGTAGTCACC
AGTTACGGTATATTGGAAATCCAGTTCTGATGTCATCCTCCTACGAGAGGCAGTCTCTGATCTT
TCTAGCCTGAAATTCCTAATCTCAGAACTCTTATAACATTTTAATAAGTTAATAATAAGTGATT
ATTGAAATTACCACTTTCAACTCATTGCTGCTCTTTTTGGCAGAGTGGCAGCACAGGGATATAG
GGCATATGTCCTGATGAGCAGAGTCAAGTTGGGAAGATCTGAGCCTCAGCTTTCACATCTACAT
GTTAGGAATAATAAGTGCCCTACATGGGTCACATGGTGTGTTGATTACAATAGCTCATGCTTCC
AAGATTATAAATCACTATTCATGTGTCCATTTTTATTTGACTGTTAAGTTTAATCACCCTTATT
AGGCTTGCAAGCCTCTGAGGGCAGGAGTTGTTTTTACACATCACTGTACCTTCCCAATCTTGGT
CAGATAAAGTGCATCCAATAAATACTGGTGGAAGTGGAATGAATAAGATATTAATATCTGAAAC
GTAATATTATAATTAGGGATAATCAAACCAGACATTATTTTCTCATCCTTTAAACCTTTCAAGA
AACTCCCATTCACAAATGCTACAAAGGGAATAAAATACCTAGGAATACAGCTTACAAGGGACAT
GAAGGAACTCTTCAAGGAAAACTAAAACCCACTGCTCAAGGAAATAAGAGAGGACAAAAACAAA
TGGAAAAACATTCCATCCTCTTTTATACAAAGAATCAATATCATGAAAATGGCCATACTGCCCA
AAGTAATTTATAGATTCAATGCTATTCCCATCAAACTACCATTGACATTCTTCACAGAATTAGA
AAACACTTCTTTAAATTTCGTATGGAACTAAAAAAGAGCCCGTATATCCAAGACAATCATAAGC
AAAAAGAACAAAGCTACAGGCATCATGCTACTTGACTTCAAACTATACTACAAGGCTACAGTAA
CCAAAACAGCATGGTACTGGTACCAAAACAGACATGTAGCCCAGTGGAACAGAACAGAGACCTC
ACAAATAACACCACACATCTACAACCATCTGATCTTTGACAAACCTGACAAAAACAAGAAATGG
GGAAAGGATTCCCTATTTAATAAATGGTGTTGGGAAAACTGGCTAGCCATATGCAGAAAAATGA
AACTGGACCCCTTTCTTACATCTTATACAAAAATTAACTCAAGATGGATTAAAGGCTTAAACGT
AAGACCTAAAACCATAAAAACCTTAGAAGAAAACGTAGGCAATACCATTCAGGACATAGGCATG
GGCAAACTTCATGTTTAAAACACCAAAAGCAATGGCAACAAAAGCCAAAATTGACAAATGGGAT
CTAATTAAACTAAAGAGCTTCTGCACAGCAAAAGAAACTATCATCAGAGTGAACAGGCAACCTA
CAGAATGGGAGAAAATTTTTGCCATCTATCCATCTGACAAAGGGCTAATATCTAGAATCTACAA
AGAACTTAAATTTACAGGAAAAAAACCACCCCATGAAAAAGTGGGCGAAGGATATGAACAGACA
CTTCTCAAAAGAAGACATTTATGCAGCCAATAAACATATGAAAAAAAGCTCAACATCACTGGTC
GTTAGAGAAATGCAAATCAAAACCACAATGAGACACCATCTCATGCCAGTTGGAATGGCGATCA
TTAAAAAGTAAGGAAACAACATATGCTGGAGAGGATGTGGAGAAATAGGAAGGTTTTTACACTG
TTGGTGGGAGTGTAAATTAGTTCAACTATCATGGAAGACAGTGTGGTGACTCCTCAAGGATCTA
GAACCACAAATACCATTTGATCCAGTGATCCCATTACTGGGTATATACCTAAAGGATTATAAAT
CATTCTACTATAAAGACACATGCACAAGTATATTTATTGTGGCACTGTTCACAGTAGCAAAGAC
TTGGAACCAACCCAAATGCCCATCAATGATAGACTGGATGAAGAAAATGTGGCACATATACACC
ATGGAATACTACGCAGTCATAAAAAAGGATGAGTTCATGTCCTTTGCAGGGACATGGATCAAGC
TGGAAACCATCATTCTCAGCAAACTAACACAAGAAAAGAAAACCAAACACTGCACGTTCTCACT
CATAAGTGTGAGTTAAACAATGAGAACACATGGACACAAGGAAGGGCACATCACACACCAGGGC
CTGTCAGCGGGTTGGGGGCAAGAGGAGGGATAGCATTAGGAGAAATACCTAATGCAGATGTCAG
GCTGATGGATGCAGCAAACCACCATGGCACGTGTATACCTATGTAACAAACCTGCATGTTCTGC
ACATGT

hide sequence

Protein Sequences


Protein RefSeqs	NP_001373033	(Get FASTA)	NCBI Sequence Viewer
	NP_055380	(Get FASTA)	NCBI Sequence Viewer
GenBank Protein	AAF37311	(Get FASTA)	NCBI Sequence Viewer
	AAH69169	(Get FASTA)	NCBI Sequence Viewer
	AAI28249	(Get FASTA)	NCBI Sequence Viewer
	AAI41935	(Get FASTA)	NCBI Sequence Viewer
	AAI41936	(Get FASTA)	NCBI Sequence Viewer
	AAK95040	(Get FASTA)	NCBI Sequence Viewer
	ALI87522	(Get FASTA)	NCBI Sequence Viewer
	ALI87711	(Get FASTA)	NCBI Sequence Viewer
	ALI87712	(Get FASTA)	NCBI Sequence Viewer
	ALI87713	(Get FASTA)	NCBI Sequence Viewer
	ALI87714	(Get FASTA)	NCBI Sequence Viewer
	DAA04639	(Get FASTA)	NCBI Sequence Viewer
	EAW90520	(Get FASTA)	NCBI Sequence Viewer
Ensembl Protein	ENSP00000492897
	ENSP00000492897.1
	ENSP00000493179
	ENSP00000493179.1
GenBank Protein	Q9P1Q5	(Get FASTA)	NCBI Sequence Viewer

RefSeq Acc Id:	NP_055380 ⟸ NM_014565
- UniProtKB:	Q6NTA9 (UniProtKB/Swiss-Prot), Q6IFM1 (UniProtKB/Swiss-Prot), A5D914 (UniProtKB/Swiss-Prot), Q96R87 (UniProtKB/Swiss-Prot), Q9P1Q5 (UniProtKB/Swiss-Prot), A0A126GWA2 (UniProtKB/TrEMBL), A0A126GW88 (UniProtKB/TrEMBL), A0A126GW98 (UniProtKB/TrEMBL), A0A126GWA0 (UniProtKB/TrEMBL)
- Sequence:	show sequence MRENNQSSTLEFILLGVTGQQEQEDFFYILFLFIYPITLIGNLLIVLAICSDVRLHNPMYFLLA NLSLVDIFFSSVTIPKMLANHLLGSKSISFGGCLTQMYFMIALGNTDSYILAAMAYDRAVAISR PLHYTTIMSPRSCIWLIAGSWVIGNANALPHTLLTASLSFCGNQEVANFYCDITPLLKLSCSDI HFHVKMMYLGVGIFSVPLLCIIVSYIRVFSTVFQVPSTKGVLKAFSTCGSHLTVVSLYYGTVMG TYFRPLTNYSLKDAVITVMYTAVTPMLNPFIYSLRNRDMKAALRKLFNKRISS hide sequence

Ensembl Acc Id:

ENSP00000492897 ⟸ ENST00000641322

Ensembl Acc Id:

ENSP00000493179 ⟸ ENST00000641732

Ensembl Acc Id:

ENSP00000305207 ⟸ ENST00000304094

RefSeq Acc Id:	NP_001373033 ⟸ NM_001386104
- UniProtKB:	Q9P1Q5 (UniProtKB/Swiss-Prot), Q6NTA9 (UniProtKB/Swiss-Prot), Q6IFM1 (UniProtKB/Swiss-Prot), A5D914 (UniProtKB/Swiss-Prot), Q96R87 (UniProtKB/Swiss-Prot), A0A126GWA2 (UniProtKB/TrEMBL), A0A126GW88 (UniProtKB/TrEMBL), A0A126GW98 (UniProtKB/TrEMBL), A0A126GWA0 (UniProtKB/TrEMBL)

Protein Domains

G-protein coupled receptors family 1 profile

Protein Structures

Name	Modeler	Protein Id	AA Range	Protein Structure
AF-Q9P1Q5-F1-model_v2	AlphaFold	Q9P1Q5	1-309	view protein structure

Additional Information

External Database Links

Database	Acc Id	Source(s)
AGR Gene	HGNC:8179	AgrOrtholog
COSMIC	OR1A1	COSMIC
Ensembl Genes	ENSG00000172146	Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript	ENST00000641322	ENTREZGENE
	ENST00000641322.1	UniProtKB/Swiss-Prot
	ENST00000641732	ENTREZGENE
	ENST00000641732.2	UniProtKB/Swiss-Prot
Gene3D-CATH	Rhodopsin 7-helix transmembrane proteins	UniProtKB/Swiss-Prot
GTEx	ENSG00000172146	GTEx
HGNC ID	HGNC:8179	ENTREZGENE
Human Proteome Map	OR1A1	Human Proteome Map
InterPro	GPCR_Rhodpsn	UniProtKB/Swiss-Prot
	GPCR_Rhodpsn_7TM	UniProtKB/Swiss-Prot
	Olfact_rcpt	UniProtKB/Swiss-Prot
KEGG Report	hsa:8383	UniProtKB/Swiss-Prot
NCBI Gene	8383	ENTREZGENE
OMIM	618046	OMIM
PANTHER	OLFACTORY RECEPTOR	UniProtKB/Swiss-Prot
Pfam	7tm_4	UniProtKB/Swiss-Prot
PharmGKB	PA32051	PharmGKB
PRINTS	GPCRRHODOPSN	UniProtKB/Swiss-Prot
	OLFACTORYR	UniProtKB/Swiss-Prot
PROSITE	G_PROTEIN_RECEP_F1_2	UniProtKB/Swiss-Prot
Superfamily-SCOP	Family A G protein-coupled receptor-like	UniProtKB/Swiss-Prot
UniProt	A0A126GW88	ENTREZGENE, UniProtKB/TrEMBL
	A0A126GW98	ENTREZGENE, UniProtKB/TrEMBL
	A0A126GWA0	ENTREZGENE, UniProtKB/TrEMBL
	A0A126GWA2	ENTREZGENE, UniProtKB/TrEMBL
	A5D914	ENTREZGENE
	OR1A1_HUMAN	UniProtKB/Swiss-Prot
	Q6IFM1	ENTREZGENE
	Q6NTA9	ENTREZGENE
	Q96R87	ENTREZGENE
	Q9P1Q5	ENTREZGENE
UniProt Secondary	A5D914	UniProtKB/Swiss-Prot
	Q6IFM1	UniProtKB/Swiss-Prot
	Q6NTA9	UniProtKB/Swiss-Prot
	Q96R87	UniProtKB/Swiss-Prot

Nomenclature History

Date	Current Symbol	Current Name	Previous Symbol	Previous Name	Description	Reference	Status
2020-05-11	OR1A1	olfactory receptor family 1 subfamily A member 1	OR1A1	olfactory receptor family 1 subfamily A member 1 (gene/pseudogene)	Symbol and/or name change	19259463	PROVISIONAL
2019-09-17	OR1A1	olfactory receptor family 1 subfamily A member 1 (gene/pseudogene)	OR1A1	olfactory receptor family 1 subfamily A member 1	Symbol and/or name change	5135510	APPROVED
2015-12-15	OR1A1	olfactory receptor family 1 subfamily A member 1	OR1A1	olfactory receptor, family 1, subfamily A, member 1	Symbol and/or name change	5135510	APPROVED

Gene Annotator (Functional Annotation) unavailable	Gene Annotator (Annotation Distribution) unavailable	Variant Visualizer (Genomic Variants) unavailble Variant Visualizer (Genomic Variants) unavailable
Gene Annotator (Functional Annotation)	Gene Annotator (Annotation Distribution)	Variant Visualizer (Genomic Variants)

InterViewer (Protein-Protein Interactions) unavailable	Gviewer (Genome Viewer) unavailable	Variant Visualizer (Damaging Variants) unavailble Variant Visualizer (Damaging Variants) unavailable
InterViewer (Protein-Protein Interactions)	GViewer (Genome Viewer)	Variant Visualizer (Damaging Variants)

Gene Annotator (Annotation Comparison) unavailable	OLGA (Gene List Generator) unavailable
Gene Annotator (Annotation Comparison)	OLGA (Gene List Generator)	Excel (Download)

MOET (Multi-Ontology Enrichement) unavailable	GOLF (Gene-Ortholog Location Finder) unavailable
MOET (Multi-Ontology Enrichement)	GOLF (Gene-Ortholog Location Finder)

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