OR5AN1 (olfactory receptor family 5 subfamily AN member 1) - Rat Genome Database

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Gene: OR5AN1 (olfactory receptor family 5 subfamily AN member 1) Homo sapiens
Analyze
Symbol: OR5AN1
Name: olfactory receptor family 5 subfamily AN member 1
RGD ID: 1349496
HGNC Page HGNC:15255
Description: Enables odorant binding activity and olfactory receptor activity. Involved in detection of chemical stimulus involved in sensory perception. Located in membrane.
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: muscone receptor; olfactory receptor 5AN1; olfactory receptor OR11-244; olfactory receptor, family 5, subfamily AN, member 1; OR11-244
RGD Orthologs
Mouse
Rat
Bonobo
Dog
Pig
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381159,358,895 - 59,371,714 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1159,358,895 - 59,371,714 (+)EnsemblGRCh38hg38GRCh38
GRCh371159,126,368 - 59,139,187 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361158,888,508 - 58,889,443 (+)NCBINCBI36Build 36hg18NCBI36
Build 341158,888,507 - 58,889,443NCBI
Celera1156,493,212 - 56,494,147 (+)NCBICelera
Cytogenetic Map11q12.1NCBI
HuRef1155,479,692 - 55,480,627 (+)NCBIHuRef
CHM1_11158,997,697 - 58,998,632 (+)NCBICHM1_1
T2T-CHM13v2.01159,309,745 - 59,322,565 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component
membrane  (IDA,IEA)
plasma membrane  (IEA)

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
References

References - curated
# Reference Title Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:12477932   PMID:14983052   PMID:21873635   PMID:24361078   PMID:25411495   PMID:25901328   PMID:29632183   PMID:34389381   PMID:36625229  


Genomics

Comparative Map Data
OR5AN1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381159,358,895 - 59,371,714 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1159,358,895 - 59,371,714 (+)EnsemblGRCh38hg38GRCh38
GRCh371159,126,368 - 59,139,187 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361158,888,508 - 58,889,443 (+)NCBINCBI36Build 36hg18NCBI36
Build 341158,888,507 - 58,889,443NCBI
Celera1156,493,212 - 56,494,147 (+)NCBICelera
Cytogenetic Map11q12.1NCBI
HuRef1155,479,692 - 55,480,627 (+)NCBIHuRef
CHM1_11158,997,697 - 58,998,632 (+)NCBICHM1_1
T2T-CHM13v2.01159,309,745 - 59,322,565 (+)NCBIT2T-CHM13v2.0
Or5an9
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391912,186,932 - 12,187,870 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1912,177,998 - 12,189,555 (+)EnsemblGRCm39 Ensembl
GRCm381912,209,568 - 12,210,506 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1912,200,634 - 12,212,191 (+)EnsemblGRCm38mm10GRCm38
MGSCv371912,284,058 - 12,284,996 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361912,276,613 - 12,277,551 (+)NCBIMGSCv36mm8
Celera1912,912,320 - 12,913,258 (+)NCBICelera
Cytogenetic Map19ANCBI
cM Map198.67NCBI
Or5an1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81218,666,274 - 218,667,212 (+)NCBIGRCr8
mRatBN7.21209,241,571 - 209,242,510 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1209,241,571 - 209,242,510 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1217,616,220 - 217,617,158 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01224,551,263 - 224,552,201 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01217,370,655 - 217,371,593 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01228,628,274 - 228,629,212 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1228,628,274 - 228,629,212 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01235,788,665 - 235,789,603 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41215,177,170 - 215,178,108 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11215,335,599 - 215,336,538 (+)NCBI
Celera1206,667,720 - 206,668,658 (+)NCBICelera
Cytogenetic Map1q43NCBI
LOC100976396
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v2960,482,816 - 60,495,648 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11161,525,129 - 61,537,949 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01154,582,598 - 54,583,622 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11158,034,075 - 58,035,099 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1158,034,116 - 58,035,051 (+)Ensemblpanpan1.1panPan2
OR5AN1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11837,329,690 - 37,330,628 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1837,329,690 - 37,330,744 (+)EnsemblCanFam3.1canFam3CanFam3.1
ROS_Cfam_1.01837,968,258 - 37,969,196 (+)NCBIROS_Cfam_1.0
UMICH_Zoey_3.11837,557,962 - 37,558,900 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.01837,135,042 - 37,135,980 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.01837,764,171 - 37,765,109 (+)NCBIUU_Cfam_GSD_1.0
LOC100516243
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa10.2211,525,200 - 11,526,138 (+)NCBISscrofa10.2Sscrofa10.2susScr3
LOC101720079
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_0046248641,378,172 - 1,390,681 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in OR5AN1
10 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
Single allele deletion Intellectual disability [RCV001293382] Chr11:118359328..118372573 [GRCh37]
Chr11:11p15.3-q23.3		 pathogenic
GRCh37/hg19 11p15.5-q25(chr11:230616-134938470) copy number gain See cases [RCV000511729] Chr11:230616..134938470 [GRCh37]
Chr11:11p15.5-q25		 pathogenic
GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3 copy number gain See cases [RCV000510881] Chr11:230616..134938470 [GRCh37]
Chr11:11p15.5-q25		 pathogenic
NM_001004729.2(OR5AN1):c.356T>C (p.Met119Thr) single nucleotide variant not specified [RCV004321404] Chr11:59364814 [GRCh38]
Chr11:59132287 [GRCh37]
Chr11:11q12.1		 uncertain significance
NM_001004729.2(OR5AN1):c.56C>T (p.Ser19Leu) single nucleotide variant not specified [RCV004289237] Chr11:59364514 [GRCh38]
Chr11:59131987 [GRCh37]
Chr11:11q12.1		 uncertain significance
GRCh37/hg19 11q12.1-12.3(chr11:58935215-62177656)x3 copy number gain not provided [RCV000683362] Chr11:58935215..62177656 [GRCh37]
Chr11:11q12.1-12.3		 likely pathogenic
GRCh37/hg19 11p15.5-q25(chr11:198510-134934063)x3 copy number gain not provided [RCV000737348] Chr11:198510..134934063 [GRCh37]
Chr11:11p15.5-q25		 pathogenic
GRCh37/hg19 11p15.5-q25(chr11:70864-134938470)x3 copy number gain not provided [RCV000749874] Chr11:70864..134938470 [GRCh37]
Chr11:11p15.5-q25		 pathogenic
NC_000011.9:g.(?_58916346)_(64972349_?)dup duplication Leukocyte adhesion deficiency 3 [RCV003113394]|not provided [RCV003113393] Chr11:58916346..64972349 [GRCh37]
Chr11:11q12.1-13.1		 uncertain significance|no classifications from unflagged records
GRCh37/hg19 11p13-q25(chr11:32799481-134938470)x3 copy number gain MISSED ABORTION [RCV002282973] Chr11:32799481..134938470 [GRCh37]
Chr11:11p13-q25		 pathogenic
GRCh37/hg19 11p11.2-q12.2(chr11:51581311-54891247)x3 copy number gain See cases [RCV002286338] Chr11:51581311..54891247 [GRCh37]
Chr11:11p11.2-q12.2		 pathogenic
NM_001004729.2(OR5AN1):c.650T>C (p.Ile217Thr) single nucleotide variant not specified [RCV004106319] Chr11:59365108 [GRCh38]
Chr11:59132581 [GRCh37]
Chr11:11q12.1		 uncertain significance
NM_001004729.2(OR5AN1):c.656A>T (p.Tyr219Phe) single nucleotide variant not specified [RCV004129007] Chr11:59365114 [GRCh38]
Chr11:59132587 [GRCh37]
Chr11:11q12.1		 uncertain significance
NM_001004729.2(OR5AN1):c.403T>C (p.Ser135Pro) single nucleotide variant not specified [RCV004230934] Chr11:59364861 [GRCh38]
Chr11:59132334 [GRCh37]
Chr11:11q12.1		 uncertain significance
NM_001004729.2(OR5AN1):c.906A>T (p.Leu302Phe) single nucleotide variant not specified [RCV004153338] Chr11:59365364 [GRCh38]
Chr11:59132837 [GRCh37]
Chr11:11q12.1		 uncertain significance
NM_001004729.2(OR5AN1):c.908A>G (p.Lys303Arg) single nucleotide variant not specified [RCV004205997] Chr11:59365366 [GRCh38]
Chr11:59132839 [GRCh37]
Chr11:11q12.1		 uncertain significance
NM_001004729.2(OR5AN1):c.559A>C (p.Ile187Leu) single nucleotide variant not specified [RCV004275524] Chr11:59365017 [GRCh38]
Chr11:59132490 [GRCh37]
Chr11:11q12.1		 uncertain significance
NM_001004729.2(OR5AN1):c.706T>G (p.Ser236Ala) single nucleotide variant not specified [RCV004345498] Chr11:59365164 [GRCh38]
Chr11:59132637 [GRCh37]
Chr11:11q12.1		 uncertain significance
NM_001004729.2(OR5AN1):c.502C>G (p.His168Asp) single nucleotide variant not specified [RCV004359159] Chr11:59364960 [GRCh38]
Chr11:59132433 [GRCh37]
Chr11:11q12.1		 uncertain significance
GRCh37/hg19 11q12.1-13.3(chr11:56895955-69295402)x3 copy number gain not specified [RCV003986944] Chr11:56895955..69295402 [GRCh37]
Chr11:11q12.1-13.3		 likely pathogenic
GRCh37/hg19 11p11.12-q13.1(chr11:50398499-63924462)x3 copy number gain not specified [RCV003986918] Chr11:50398499..63924462 [GRCh37]
Chr11:11p11.12-q13.1		 likely pathogenic
NM_001004729.2(OR5AN1):c.559A>T (p.Ile187Phe) single nucleotide variant not specified [RCV004499503] Chr11:59365017 [GRCh38]
Chr11:59132490 [GRCh37]
Chr11:11q12.1		 uncertain significance
NM_001004729.2(OR5AN1):c.320C>T (p.Thr107Met) single nucleotide variant not specified [RCV004499501] Chr11:59364778 [GRCh38]
Chr11:59132251 [GRCh37]
Chr11:11q12.1		 uncertain significance
NM_001004729.2(OR5AN1):c.923G>C (p.Arg308Thr) single nucleotide variant not specified [RCV004499505] Chr11:59365381 [GRCh38]
Chr11:59132854 [GRCh37]
Chr11:11q12.1		 uncertain significance
NM_001004729.2(OR5AN1):c.17A>G (p.Asn6Ser) single nucleotide variant not specified [RCV004499500] Chr11:59364475 [GRCh38]
Chr11:59131948 [GRCh37]
Chr11:11q12.1		 uncertain significance
NM_001004729.2(OR5AN1):c.82C>A (p.Leu28Ile) single nucleotide variant not specified [RCV004499504] Chr11:59364540 [GRCh38]
Chr11:59132013 [GRCh37]
Chr11:11q12.1		 uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:269
Count of miRNA genes:257
Interacting mature miRNAs:261
Transcripts:ENST00000313940
Prediction methods:Microtar, 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.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
407139564GWAS788540_H3-hydroxypropylmercapturic acid measurement QTL GWAS788540 (human)3e-093-hydroxypropylmercapturic acid measurement115936263959362640Human
406983900GWAS632876_Hsame-sex sexual behavior QTL GWAS632876 (human)0.0000003same-sex sexual behavior115936056959360570Human


Expression


RNA-SEQ Expression
High: > 1000 TPM value   Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM   Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system adipose tissue appendage
High
Medium
Low 1 1 1 1
Below cutoff 114 117 78 45 154 33 161 79 100 17 93 59 12 52 108

Sequence


Ensembl Acc Id: ENST00000313940   ⟹   ENSP00000320302
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1159,364,412 - 59,365,448 (+)Ensembl
Ensembl Acc Id: ENST00000641850   ⟹   ENSP00000492957
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1159,358,895 - 59,371,714 (+)Ensembl
Ensembl Acc Id: ENST00000641998   ⟹   ENSP00000493250
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1159,358,895 - 59,371,714 (+)Ensembl
RefSeq Acc Id: NM_001004729   ⟹   NP_001004729
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381159,358,895 - 59,371,714 (+)NCBI
GRCh371159,131,932 - 59,132,867 (+)RGD
Build 361158,888,508 - 58,889,443 (+)NCBI Archive
Celera1156,493,212 - 56,494,147 (+)RGD
HuRef1155,479,692 - 55,480,627 (+)RGD
CHM1_11158,997,697 - 58,998,632 (+)NCBI
T2T-CHM13v2.01159,309,745 - 59,322,565 (+)NCBI
Sequence:
RefSeq Acc Id: NP_001004729   ⟸   NM_001004729
- UniProtKB: Q8NGI8 (UniProtKB/Swiss-Prot),   Q6IEV4 (UniProtKB/Swiss-Prot),   B9EIS2 (UniProtKB/Swiss-Prot),   A0A126GVP9 (UniProtKB/TrEMBL)
- Sequence:
Ensembl Acc Id: ENSP00000320302   ⟸   ENST00000313940
Ensembl Acc Id: ENSP00000493250   ⟸   ENST00000641998
Ensembl Acc Id: ENSP00000492957   ⟸   ENST00000641850
Protein Domains
G-protein coupled receptors family 1 profile

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q8NGI8-F1-model_v2 AlphaFold Q8NGI8 1-311 view protein structure


Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:15255 AgrOrtholog
COSMIC OR5AN1 COSMIC
Ensembl Genes ENSG00000176495 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000313940.2 UniProtKB/Swiss-Prot
  ENST00000641850.1 UniProtKB/Swiss-Prot
  ENST00000641998 ENTREZGENE
  ENST00000641998.1 UniProtKB/Swiss-Prot
Gene3D-CATH Rhodopsin 7-helix transmembrane proteins UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000176495 GTEx
HGNC ID HGNC:15255 ENTREZGENE
Human Proteome Map OR5AN1 Human Proteome Map
InterPro GPCR_Rhodpsn UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  GPCR_Rhodpsn_7TM UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Olfact_rcpt UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Olfactory_GPCR UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:390195 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene OR5AN1 ENTREZGENE
OMIM 615702 OMIM
PANTHER OLFACTORY RECEPTOR UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  OLFACTORY RECEPTOR 5AN1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam 7tm_4 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA32466 PharmGKB
PRINTS GPCRRHODOPSN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  OLFACTORYR UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE G_PROTEIN_RECEP_F1_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  G_PROTEIN_RECEP_F1_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP Family A G protein-coupled receptor-like UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A126GVP9 ENTREZGENE, UniProtKB/TrEMBL
  B9EIS2 ENTREZGENE
  O5AN1_HUMAN UniProtKB/Swiss-Prot
  Q6IEV4 ENTREZGENE
  Q8NGI8 ENTREZGENE
UniProt Secondary B9EIS2 UniProtKB/Swiss-Prot
  Q6IEV4 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2015-12-15 OR5AN1  olfactory receptor family 5 subfamily AN member 1  OR5AN1  olfactory receptor, family 5, subfamily AN, member 1  Symbol and/or name change 5135510 APPROVED