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Gene: OR1Q1 (olfactory receptor family 1 subfamily Q member 1) Homo sapiens

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Symbol:

OR1Q1

Name:

olfactory receptor family 1 subfamily Q member 1

RGD ID:

1345044

HGNC Page

HGNC:8223

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:

PROVISIONAL

Previously known as:

HSTPCR106; olfactory receptor 1Q1; olfactory receptor 1Q2; olfactory receptor 1Q3; olfactory receptor 9-A; olfactory receptor OR9-25; olfactory receptor TPCR106; olfactory receptor, family 1, subfamily Q, member 1; olfactory receptor, family 1, subfamily Q, member 2; olfactory receptor, family 1, subfamily Q, member 3; OR1Q2; OR1Q3; OR9-25; OR9-A; OST226; OST226OR9-A; TPCR106

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	9	122,614,738 - 122,615,682 (+)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	9	122,614,738 - 122,615,682 (+)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	9	125,377,017 - 125,377,961 (+)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	9	124,416,838 - 124,417,782 (+)	NCBI	NCBI36	Build 36	hg18	NCBI36
Build 34	9	122,456,570 - 122,457,515	NCBI
Celera	9	96,025,341 - 96,026,285 (+)	NCBI		Celera
Cytogenetic Map	9	q33.2	NCBI
HuRef	9	94,991,580 - 94,992,524 (+)	NCBI		HuRef
CHM1_1	9	125,524,963 - 125,525,907 (+)	NCBI		CHM1_1
T2T-CHM13v2.0	9	134,812,070 - 134,813,014 (+)	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

1,2-dimethylhydrazine (ISO)

2,3,7,8-tetrachlorodibenzodioxine (ISO)

aflatoxin B1 (EXP)

Azoxymethane (ISO)

bisphenol A (ISO)

CGP 52608 (EXP)

copper atom (ISO)

copper(0) (ISO)

crocidolite asbestos (EXP)

dextran sulfate (ISO)

disodium selenite (EXP)

titanium dioxide (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,NAS)

signal transduction (IBA,IEA)

Cellular Component

membrane (IEA,NAS)

plasma membrane (IBA,IEA)

Molecular Function

G protein-coupled receptor activity (IEA)

olfactory receptor activity (IBA,IEA,NAS)

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:9119360	PMID:12213199	PMID:12477932	PMID:14983052	PMID:18029348	PMID:21873635

Genomics

Comparative Map Data

OR1Q1
(Homo sapiens - human)

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	9	122,614,738 - 122,615,682 (+)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	9	122,614,738 - 122,615,682 (+)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	9	125,377,017 - 125,377,961 (+)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	9	124,416,838 - 124,417,782 (+)	NCBI	NCBI36	Build 36	hg18	NCBI36
Build 34	9	122,456,570 - 122,457,515	NCBI
Celera	9	96,025,341 - 96,026,285 (+)	NCBI		Celera
Cytogenetic Map	9	q33.2	NCBI
HuRef	9	94,991,580 - 94,992,524 (+)	NCBI		HuRef
CHM1_1	9	125,524,963 - 125,525,907 (+)	NCBI		CHM1_1
T2T-CHM13v2.0	9	134,812,070 - 134,813,014 (+)	NCBI		T2T-CHM13v2.0

Or1q1
(Mus musculus - house mouse)

Mouse Assembly	Chr	Position (strand)	Source	Genome Browsers
Mouse Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCm39	2	36,886,824 - 36,887,750 (+)	NCBI	GRCm39	GRCm39	mm39
GRCm39 Ensembl	2	36,883,839 - 36,891,859 (+)	Ensembl		GRCm39 Ensembl
GRCm38	2	36,996,812 - 36,997,738 (+)	NCBI	GRCm38	GRCm38	mm10	GRCm38
GRCm38.p6 Ensembl	2	36,993,827 - 37,001,847 (+)	Ensembl	GRCm38		mm10	GRCm38
MGSCv37	2	36,852,332 - 36,853,258 (+)	NCBI	GRCm37	MGSCv37	mm9	NCBIm37
MGSCv36	2	36,818,821 - 36,819,747 (+)	NCBI		MGSCv36	mm8
Celera	2	36,688,556 - 36,689,482 (+)	NCBI		Celera
Cytogenetic Map	2	B	NCBI
cM Map	2	24.19	NCBI

Or1q1
(Rattus norvegicus - Norway rat)

Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCr8	3	40,897,874 - 40,898,800 (+)	NCBI		GRCr8
mRatBN7.2	3	20,506,995 - 20,507,921 (+)	NCBI	mRatBN7.2	mRatBN7.2
mRatBN7.2 Ensembl	3	20,503,077 - 20,509,271 (+)	Ensembl		mRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx	3	23,574,897 - 23,575,823 (+)	NCBI	Rnor_SHR	UTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0	3	32,159,804 - 32,160,730 (+)	NCBI	Rnor_SHRSP	UTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0	3	30,384,619 - 30,385,545 (+)	NCBI	Rnor_WKY	UTH_Rnor_WKY_Bbb_1.0
Rnor_6.0	3	21,016,266 - 21,017,192 (+)	NCBI	Rnor6.0	Rnor_6.0	rn6	Rnor6.0
Rnor_6.0 Ensembl	3	21,016,266 - 21,017,192 (+)	Ensembl	Rnor6.0		rn6	Rnor6.0
Rnor_5.0	3	26,261,911 - 26,262,837 (+)	NCBI	Rnor5.0	Rnor_5.0	rn5	Rnor5.0
RGSC_v3.4	3	16,472,495 - 16,473,421 (+)	NCBI	RGSC3.4	RGSC_v3.4	rn4	RGSC3.4
RGSC_v3.1	3	16,368,866 - 16,369,793 (+)	NCBI
Celera	3	15,178,096 - 15,179,022 (+)	NCBI		Celera
Cytogenetic Map	3	p11	NCBI

LOC100969519
(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	11	16,676,925 - 16,879,079 (-)	NCBI		NHGRI_mPanPan1-v2
NHGRI_mPanPan1	9	16,857,486 - 16,879,063 (-)	NCBI		NHGRI_mPanPan1
Mhudiblu_PPA_v0	9	93,594,683 - 93,795,950 (+)	NCBI	Mhudiblu_PPA_v0	Mhudiblu_PPA_v0	panPan3
PanPan1.1	9	122,129,664 - 122,130,746 (+)	NCBI	panpan1.1	PanPan1.1	panPan2
PanPan1.1 Ensembl	9	122,082,819 - 122,083,763 (+)	Ensembl	panpan1.1		panPan2

LOC110258978
(Sus scrofa - pig)

No map positions available.

LOC103239917
(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	12	15,536,124 - 15,537,672 (-)	NCBI	ChlSab1.1	ChlSab1.1	chlSab2
Vero_WHO_p1.0	NW_023666079	500,327 - 501,272 (+)	NCBI	Vero_WHO_p1.0	Vero_WHO_p1.0

Variants

Variants in OR1Q1
21 total Variants

Clinical Variants

Name	Type	Condition(s)	Position(s)	Clinical significance
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	copy number gain	See cases [RCV000050348]	Chr9:193412..138179445 [GRCh38] Chr9:204193..141073897 [GRCh37] Chr9:194193..140193718 [NCBI36] Chr9:9p24.3-q34.3	pathogenic
GRCh38/hg38 9q33.2-34.3(chr9:121112395-138075224)x3	copy number gain	See cases [RCV000051009]	Chr9:121112395..138075224 [GRCh38] Chr9:123874673..140969676 [GRCh37] Chr9:122914494..140089497 [NCBI36] Chr9:9q33.2-34.3	pathogenic
GRCh38/hg38 9q33.2-33.3(chr9:120938041-123469664)x1	copy number loss	See cases [RCV000052922]	Chr9:120938041..123469664 [GRCh38] Chr9:123700319..126231943 [GRCh37] Chr9:122740140..125271764 [NCBI36] Chr9:9q33.2-33.3	pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124532)x3	copy number gain	See cases [RCV000053745]	Chr9:193412..138124532 [GRCh38] Chr9:204193..141018984 [GRCh37] Chr9:194193..140138805 [NCBI36] Chr9:9p24.3-q34.3	pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138114463)x3	copy number gain	See cases [RCV000053746]	Chr9:193412..138114463 [GRCh38] Chr9:214367..141008915 [GRCh37] Chr9:204367..140128736 [NCBI36] Chr9:9p24.3-q34.3	pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	copy number gain	Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053748]\|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053748]\|See cases [RCV000053748]	Chr9:193412..138179445 [GRCh38] Chr9:266045..141073897 [GRCh37] Chr9:256045..140193718 [NCBI36] Chr9:9p24.3-q34.3	pathogenic
GRCh38/hg38 9q33.2-34.3(chr9:121586837-138179445)x3	copy number gain	Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053776]\|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053776]\|See cases [RCV000053776]	Chr9:121586837..138179445 [GRCh38] Chr9:124349116..141073897 [GRCh37] Chr9:123388937..140193718 [NCBI36] Chr9:9q33.2-34.3	pathogenic
NM_012364.1(OR1Q1):c.669G>A (p.Leu223=)	single nucleotide variant	Malignant melanoma [RCV000068536]	Chr9:122615406 [GRCh38] Chr9:125377685 [GRCh37] Chr9:124417506 [NCBI36] Chr9:9q33.2	not provided
GRCh38/hg38 9p24.3-q34.3(chr9:204193-138179445)	copy number gain	See cases [RCV000133791]	Chr9:204193..138179445 [GRCh38] Chr9:204193..141073897 [GRCh37] Chr9:194193..140193718 [NCBI36] Chr9:9p24.3-q34.3	pathogenic
GRCh38/hg38 9q33.2-34.3(chr9:121073102-138179445)x3	copy number gain	See cases [RCV000134920]	Chr9:121073102..138179445 [GRCh38] Chr9:123835380..141073897 [GRCh37] Chr9:122875201..140193718 [NCBI36] Chr9:9q33.2-34.3	pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124524)x3	copy number gain	See cases [RCV000138783]	Chr9:193412..138124524 [GRCh38] Chr9:204090..141018976 [GRCh37] Chr9:194090..140138797 [NCBI36] Chr9:9p24.3-q34.3	pathogenic
GRCh38/hg38 9p11.2-q34.3(chr9:193412-138159073)x3	copy number gain	See cases [RCV000139207]	Chr9:193412..138159073 [GRCh38] Chr9:68420641..141053525 [GRCh37] Chr9:67910461..140173346 [NCBI36] Chr9:9p11.2-q34.3	pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138159073)x3	copy number gain	See cases [RCV000138962]	Chr9:193412..138159073 [GRCh38] Chr9:204104..141053525 [GRCh37] Chr9:194104..140173346 [NCBI36] Chr9:9p24.3-q34.3	pathogenic\|conflicting data from submitters
GRCh38/hg38 9q33.2(chr9:122546532-122628235)x3	copy number gain	See cases [RCV000140625]	Chr9:122546532..122628235 [GRCh38] Chr9:125308811..125390514 [GRCh37] Chr9:124348632..124430335 [NCBI36] Chr9:9q33.2	benign
GRCh38/hg38 9p24.3-q34.3(chr9:203861-138125937)x3	copy number gain	See cases [RCV000141876]	Chr9:203861..138125937 [GRCh38] Chr9:203861..141020389 [GRCh37] Chr9:193861..140140210 [NCBI36] Chr9:9p24.3-q34.3	pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:203862-138125937)x3	copy number gain	See cases [RCV000143476]	Chr9:203862..138125937 [GRCh38] Chr9:203862..141020389 [GRCh37] Chr9:193862..140140210 [NCBI36] Chr9:9p24.3-q34.3	pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	copy number gain	See cases [RCV000148113]	Chr9:193412..138179445 [GRCh38] Chr9:204193..141073897 [GRCh37] Chr9:194193..140193718 [NCBI36] Chr9:9p24.3-q34.3	pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:163131-141122114)x3	copy number gain	See cases [RCV000240081]	Chr9:163131..141122114 [GRCh37] Chr9:9p24.3-q34.3	pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:62525-141006407)	copy number gain	See cases [RCV000449375]	Chr9:62525..141006407 [GRCh37] Chr9:9p24.3-q34.3	pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020389)x3	copy number gain	not specified [RCV003986800]	Chr9:203861..141020389 [GRCh37] Chr9:9p24.3-q34.3	pathogenic
GRCh37/hg19 9q31.1-33.3(chr9:104604851-126253089)x1	copy number loss	See cases [RCV000447763]	Chr9:104604851..126253089 [GRCh37] Chr9:9q31.1-33.3	pathogenic
GRCh37/hg19 9q33.2-34.3(chr9:124642754-141146461)x3	copy number gain	See cases [RCV000448784]	Chr9:124642754..141146461 [GRCh37] Chr9:9q33.2-34.3	pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:203864-141020389)x3	copy number gain	See cases [RCV000448978]	Chr9:203864..141020389 [GRCh37] Chr9:9p24.3-q34.3	pathogenic
GRCh37/hg19 9q21.11-34.3(chr9:71069743-140999928)	copy number gain	Global developmental delay [RCV000626548]	Chr9:71069743..140999928 [GRCh37] Chr9:9q21.11-34.3	likely pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:203862-141020389)	copy number gain	See cases [RCV000512392]	Chr9:203862..141020389 [GRCh37] Chr9:9p24.3-q34.3	pathogenic
GRCh37/hg19 9q31.3-33.3(chr9:113083182-126779494)x1	copy number loss	not provided [RCV000748606]	Chr9:113083182..126779494 [GRCh37] Chr9:9q31.3-33.3	pathogenic
GRCh37/hg19 9q33.2(chr9:125303760-125377734)x1	copy number loss	not provided [RCV000748645]	Chr9:125303760..125377734 [GRCh37] Chr9:9q33.2	benign
GRCh37/hg19 9p24.3-q34.3(chr9:10590-141122247)x3	copy number gain	not provided [RCV000748055]	Chr9:10590..141122247 [GRCh37] Chr9:9p24.3-q34.3	pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:10590-141107672)x3	copy number gain	not provided [RCV000748053]	Chr9:10590..141107672 [GRCh37] Chr9:9p24.3-q34.3	pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:46587-141066491)x3	copy number gain	not provided [RCV000748063]	Chr9:46587..141066491 [GRCh37] Chr9:9p24.3-q34.3	pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:10590-141114095)x2	copy number gain	not provided [RCV000748054]	Chr9:10590..141114095 [GRCh37] Chr9:9p24.3-q34.3	pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020388)x3	copy number gain	not provided [RCV000845900]	Chr9:203861..141020388 [GRCh37] Chr9:9p24.3-q34.3	pathogenic
GRCh37/hg19 9q33.2-33.3(chr9:125349988-126462569)x1	copy number loss	not provided [RCV000849649]	Chr9:125349988..126462569 [GRCh37] Chr9:9q33.2-33.3	uncertain significance
GRCh37/hg19 9q21.11-34.3(chr9:71416475-141020389)x3	copy number gain	not provided [RCV000847808]	Chr9:71416475..141020389 [GRCh37] Chr9:9q21.11-34.3	pathogenic
GRCh37/hg19 9q33.2(chr9:125105375-125616987)x3	copy number gain	not provided [RCV001006271]	Chr9:125105375..125616987 [GRCh37] Chr9:9q33.2	uncertain significance
NM_012364.1(OR1Q1):c.499A>C (p.Ile167Leu)	single nucleotide variant	not specified [RCV004309731]	Chr9:122615236 [GRCh38] Chr9:125377515 [GRCh37] Chr9:9q33.2	uncertain significance
GRCh37/hg19 9q33.2-33.3(chr9:124604592-126306080)x1	copy number loss	not provided [RCV001006270]	Chr9:124604592..126306080 [GRCh37] Chr9:9q33.2-33.3	uncertain significance
GRCh37/hg19 9p24.3-q34.3(chr9:353349-141020389)	copy number gain	not specified [RCV002053823]	Chr9:353349..141020389 [GRCh37] Chr9:9p24.3-q34.3	pathogenic
GRCh37/hg19 9q31.1-33.3(chr9:104604851-126253089)	copy number loss	not specified [RCV002052825]	Chr9:104604851..126253089 [GRCh37] Chr9:9q31.1-33.3	pathogenic
GRCh37/hg19 9q32-34.11(chr9:116422275-131713233)	copy number gain	not specified [RCV002052831]	Chr9:116422275..131713233 [GRCh37] Chr9:9q32-34.11	pathogenic
GRCh37/hg19 9q33.1-33.3(chr9:120045175-127335905)x1	copy number loss	not provided [RCV001834516]	Chr9:120045175..127335905 [GRCh37] Chr9:9q33.1-33.3	pathogenic
GRCh37/hg19 9p24.3-q34.11(chr9:203861-131603223)x3	copy number gain	See cases [RCV002292402]	Chr9:203861..131603223 [GRCh37] Chr9:9p24.3-q34.11	pathogenic
NM_012364.1(OR1Q1):c.161G>A (p.Arg54His)	single nucleotide variant	not specified [RCV004323810]	Chr9:122614898 [GRCh38] Chr9:125377177 [GRCh37] Chr9:9q33.2	likely benign
GRCh37/hg19 9q33.2-33.3(chr9:124018736-129995568)x1	copy number loss	not provided [RCV002474540]	Chr9:124018736..129995568 [GRCh37] Chr9:9q33.2-33.3	pathogenic
NM_012364.1(OR1Q1):c.815G>A (p.Arg272His)	single nucleotide variant	not specified [RCV004109489]	Chr9:122615552 [GRCh38] Chr9:125377831 [GRCh37] Chr9:9q33.2	uncertain significance
NM_012364.1(OR1Q1):c.266C>G (p.Thr89Arg)	single nucleotide variant	not specified [RCV004136775]	Chr9:122615003 [GRCh38] Chr9:125377282 [GRCh37] Chr9:9q33.2	uncertain significance
NM_012364.1(OR1Q1):c.884G>C (p.Gly295Ala)	single nucleotide variant	not specified [RCV004119089]	Chr9:122615621 [GRCh38] Chr9:125377900 [GRCh37] Chr9:9q33.2	uncertain significance
NM_012364.1(OR1Q1):c.79C>G (p.Leu27Val)	single nucleotide variant	not specified [RCV004128289]	Chr9:122614816 [GRCh38] Chr9:125377095 [GRCh37] Chr9:9q33.2	uncertain significance
NM_012364.1(OR1Q1):c.432G>T (p.Met144Ile)	single nucleotide variant	not specified [RCV004181655]	Chr9:122615169 [GRCh38] Chr9:125377448 [GRCh37] Chr9:9q33.2	uncertain significance
NM_012364.1(OR1Q1):c.634G>C (p.Ala212Pro)	single nucleotide variant	not specified [RCV004142554]	Chr9:122615371 [GRCh38] Chr9:125377650 [GRCh37] Chr9:9q33.2	uncertain significance
NM_012364.1(OR1Q1):c.467C>G (p.Ala156Gly)	single nucleotide variant	not specified [RCV004285196]	Chr9:122615204 [GRCh38] Chr9:125377483 [GRCh37] Chr9:9q33.2	uncertain significance
NM_012364.1(OR1Q1):c.629C>A (p.Ala210Asp)	single nucleotide variant	not specified [RCV004347737]	Chr9:122615366 [GRCh38] Chr9:125377645 [GRCh37] Chr9:9q33.2	uncertain significance
NM_012364.1(OR1Q1):c.302C>T (p.Thr101Ile)	single nucleotide variant	not specified [RCV004350394]	Chr9:122615039 [GRCh38] Chr9:125377318 [GRCh37] Chr9:9q33.2	uncertain significance
GRCh37/hg19 9q33.2-33.3(chr9:122755951-127551056)x1	copy number loss	not specified [RCV003986827]	Chr9:122755951..127551056 [GRCh37] Chr9:9q33.2-33.3	pathogenic
NM_012364.1(OR1Q1):c.649T>C (p.Ser217Pro)	single nucleotide variant	not specified [RCV004501838]	Chr9:122615386 [GRCh38] Chr9:125377665 [GRCh37] Chr9:9q33.2	uncertain significance
NM_012364.1(OR1Q1):c.619A>G (p.Ile207Val)	single nucleotide variant	not specified [RCV004501837]	Chr9:122615356 [GRCh38] Chr9:125377635 [GRCh37] Chr9:9q33.2	uncertain significance
NM_012364.1(OR1Q1):c.746C>T (p.Ala249Val)	single nucleotide variant	not specified [RCV004646278]	Chr9:122615483 [GRCh38] Chr9:125377762 [GRCh37] Chr9:9q33.2	uncertain significance
NM_012364.1(OR1Q1):c.587C>A (p.Thr196Asn)	single nucleotide variant	not specified [RCV004646279]	Chr9:122615324 [GRCh38] Chr9:125377603 [GRCh37] Chr9:9q33.2	uncertain significance
NM_012364.1(OR1Q1):c.868T>A (p.Tyr290Asn)	single nucleotide variant	not specified [RCV004646280]	Chr9:122615605 [GRCh38] Chr9:125377884 [GRCh37] Chr9:9q33.2	uncertain significance
NM_012364.1(OR1Q1):c.795C>A (p.Ser265Arg)	single nucleotide variant	not specified [RCV004838725]	Chr9:122615532 [GRCh38] Chr9:125377811 [GRCh37] Chr9:9q33.2	uncertain significance
NM_012364.1(OR1Q1):c.278C>G (p.Ser93Cys)	single nucleotide variant	not specified [RCV004838726]	Chr9:122615015 [GRCh38] Chr9:125377294 [GRCh37] Chr9:9q33.2	uncertain significance
NM_012364.1(OR1Q1):c.433G>A (p.Val145Met)	single nucleotide variant	not specified [RCV004501836]	Chr9:122615170 [GRCh38] Chr9:125377449 [GRCh37] Chr9:9q33.2	uncertain significance
NM_012364.1(OR1Q1):c.478A>G (p.Thr160Ala)	single nucleotide variant	not specified [RCV004655353]	Chr9:122615215 [GRCh38] Chr9:125377494 [GRCh37] Chr9:9q33.2	uncertain significance

miRNA Target Status (No longer updated)

Predicted Target Of

	Summary Value
Count of predictions:	184
Count of miRNA genes:	179
Interacting mature miRNAs:	184
Transcripts:	ENST00000297913
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
407148022	GWAS796998_H	ornithine measurement QTL GWAS796998 (human)		0.0000004	ornithine measurement	blood amino acid measurement (CMO:0003730)	9	122614808	122614809	Human
597159775	GWAS1255849_H	lipid measurement QTL GWAS1255849 (human)		0.000006	lipid measurement	blood lipid measurement (CMO:0000050)	9	122614808	122614809	Human

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	entire extraembryonic component	exocrine system	hemolymphoid system	hepatobiliary system	integumental system	mesenchyme	mesoderm	musculoskeletal system	nervous system	renal system	reproductive system	respiratory system	sensory system
384	1139	853	416	1614	436	688	2	136	433	48	1127	1633	1649	9	911	307	900	537	94

Sequence

Nucleotide Sequences


RefSeq Transcripts	NM_012364	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
GenBank Nucleotide	AB065722	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AF399561	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AL162254	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AL359636	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC140713	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BK004228	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CH471090	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CP068269	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	KP290192	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	X89667	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles

Ensembl Acc Id:

ENST00000297913 ⟹ ENSP00000297913

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	9	122,614,738 - 122,615,682 (+)	Ensembl

RefSeq Acc Id:

NM_012364 ⟹ NP_036496

RefSeq Status:

PROVISIONAL

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	9	122,614,738 - 122,615,682 (+)	NCBI
GRCh37	9	125,377,017 - 125,377,961 (+)	RGD
Build 36	9	124,416,838 - 124,417,782 (+)	NCBI Archive
Celera	9	96,025,341 - 96,026,285 (+)	RGD
HuRef	9	94,991,580 - 94,992,524 (+)	RGD
CHM1_1	9	125,524,963 - 125,525,907 (+)	NCBI
T2T-CHM13v2.0	9	134,812,070 - 134,813,014 (+)	NCBI

Sequence:

show sequence

ATGGACAACAGCAACTGGACCAGTGTGTCCCATTTTGTTCTCTTGGGCATTTCCACCCACCCAG
AAGAGCAAATCCCACTCTTCCTTGTTTTCTCACTCATGTACGCAATCAATATTTCTGGCAACTT
GGCCATCATCACACTGATTCTCTCTGCTCCACGCCTCCACATCCCCATGTACATCTTCCTCAGT
AACTTGGCCTTGACAGACATCTGCTTCACCTCCACCACGGTCCCCAAGATGCTGCAGATTATTT
TCTCCCCTACAAAGGTAATTTCCTACACAGGCTGTTTAGCCCAAACTTATTTCTTCATTTGCTT
CGCCGTCATGGAAAACTTCATCCTGGCTGTGATGGCCTATGACAGGTACATTGCCATCTGCCAC
CCTTTCCACTACACTATGATCCTGACTAGAATGCTGTGTGTGAAGATGGTGGTCATGTGCCATG
CTCTCTCCCACCTTCATGCCATGCTGCATACCTTTCTCATAGGCCAACTAATCTTCTGTGCAGA
TAACAGAATCCCCCACTTCTTCTGTGACCTCTACGCTCTGATGAAGATCTCCTGCACCAGCACC
TACCTCAACACCCTTATGATTCACACAGAAGGTGCTGTTGTAATCAGTGGAGCTCTGGCCTTCA
TTACTGCCTCCTATGCCTGCATCATCCTGGTGGTCCTCCGGATCCCCTCAGCCAAGGGCAGGTG
GAAAACCTTTTCTACCTGCGGCTCCCACCTCACTGTGGTGGCCATATTCTATGGCACCCTCAGT
TGGGTCTACTTCCGGCCCCTTTCCAGCTATTCAGTGACCAAGGGTCGCATTATAACAGTCGTGT
ACACAGTGGTGACTCCCATGCTGAACCCCTTCATCTACAGCCTGAGGAATGGGGATGTCAAGGG
AGGCTTCATGAAATGGATGAGCAGAATGCAGACTTTTTTCTTTAGATAA

hide sequence

Protein Sequences


Protein RefSeqs	NP_036496	(Get FASTA)	NCBI Sequence Viewer
GenBank Protein	AAI40714	(Get FASTA)	NCBI Sequence Viewer
	AAK95046	(Get FASTA)	NCBI Sequence Viewer
	ALI87375	(Get FASTA)	NCBI Sequence Viewer
	BAC05943	(Get FASTA)	NCBI Sequence Viewer
	CAA61814	(Get FASTA)	NCBI Sequence Viewer
	DAA04626	(Get FASTA)	NCBI Sequence Viewer
	EAW87538	(Get FASTA)	NCBI Sequence Viewer
Ensembl Protein	ENSP00000297913
	ENSP00000297913.2
GenBank Protein	Q15612	(Get FASTA)	NCBI Sequence Viewer

RefSeq Acc Id:

NP_036496 ⟸ NM_012364

- UniProtKB:

Q96R82 (UniProtKB/Swiss-Prot), Q8NGR7 (UniProtKB/Swiss-Prot), Q15612 (UniProtKB/Swiss-Prot), Q6IFN4 (UniProtKB/Swiss-Prot)

- Sequence:

show sequence

MDNSNWTSVSHFVLLGISTHPEEQIPLFLVFSLMYAINISGNLAIITLILSAPRLHIPMYIFLS
NLALTDICFTSTTVPKMLQIIFSPTKVISYTGCLAQTYFFICFAVMENFILAVMAYDRYIAICH
PFHYTMILTRMLCVKMVVMCHALSHLHAMLHTFLIGQLIFCADNRIPHFFCDLYALMKISCTST
YLNTLMIHTEGAVVISGALAFITASYACIILVVLRIPSAKGRWKTFSTCGSHLTVVAIFYGTLS
WVYFRPLSSYSVTKGRIITVVYTVVTPMLNPFIYSLRNGDVKGGFMKWMSRMQTFFFR

hide sequence

Ensembl Acc Id:

ENSP00000297913 ⟸ ENST00000297913

Protein Domains

G-protein coupled receptors family 1 profile

Protein Structures

Name	Modeler	Protein Id	AA Range	Protein Structure
AF-Q15612-F1-model_v2	AlphaFold	Q15612	1-314	view protein structure

Additional Information

External Database Links

Database	Acc Id	Source(s)
AGR Gene	HGNC:8223	AgrOrtholog
COSMIC	OR1Q1	COSMIC
Ensembl Genes	ENSG00000165202	Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript	ENST00000297913	ENTREZGENE
	ENST00000297913.3	UniProtKB/Swiss-Prot
Gene3D-CATH	Rhodopsin 7-helix transmembrane proteins	UniProtKB/Swiss-Prot
GTEx	ENSG00000165202	GTEx
HGNC ID	HGNC:8223	ENTREZGENE
Human Proteome Map	OR1Q1	Human Proteome Map
InterPro	GPCR_Rhodpsn	UniProtKB/Swiss-Prot
	GPCR_Rhodpsn_7TM	UniProtKB/Swiss-Prot
	Olfact_rcpt	UniProtKB/Swiss-Prot
KEGG Report	hsa:158131	UniProtKB/Swiss-Prot
NCBI Gene	OR1Q1	ENTREZGENE
PANTHER	OLFACTORY RECEPTOR	UniProtKB/Swiss-Prot
Pfam	7tm_4	UniProtKB/Swiss-Prot
PharmGKB	PA32094	PharmGKB
PRINTS	GPCRRHODOPSN	UniProtKB/Swiss-Prot
	OLFACTORYR	UniProtKB/Swiss-Prot
PROSITE	G_PROTEIN_RECEP_F1_1	UniProtKB/Swiss-Prot
	G_PROTEIN_RECEP_F1_2	UniProtKB/Swiss-Prot
Superfamily-SCOP	Family A G protein-coupled receptor-like	UniProtKB/Swiss-Prot
UniProt	B9EIK1_HUMAN	UniProtKB/TrEMBL
	OR1Q1_HUMAN	UniProtKB/Swiss-Prot, ENTREZGENE
	Q6IFN4	ENTREZGENE
	Q8NGR7	ENTREZGENE
	Q96R82	ENTREZGENE
UniProt Secondary	Q6IFN4	UniProtKB/Swiss-Prot
	Q8NGR7	UniProtKB/Swiss-Prot
	Q96R82	UniProtKB/Swiss-Prot

Nomenclature History

Date	Current Symbol	Current Name	Previous Symbol	Previous Name	Description	Reference	Status
2015-12-15	OR1Q1	olfactory receptor family 1 subfamily Q member 1	OR1Q1	olfactory receptor, family 1, subfamily Q, 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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