OR5AU1 olfactory receptor family 5 subfamily AU member 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: OR5AU1provided by HGNC
Official Full Name: olfactory receptor family 5 subfamily AU member 1provided by HGNC
Primary source: HGNC:HGNC:15362
See related: Ensembl:ENSG00000169327 AllianceGenome:HGNC:15362
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: OR14-38
Summary: Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. [provided by RefSeq, Jul 2008]
Orthologs: mouse all
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Genomic context

Location:: 14q11.2

Exon count:: 1

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	14	NC_000014.9 (21154865..21156063, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	14	NC_060938.1 (15352255..15353453, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	14	NC_000014.8 (21623024..21624222, complement)

Chromosome 14 - NC_000014.9 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Copy number response

Description
Copy number response Haploinsufficency No evidence available (Last evaluated 2015-03-11) ClinGen Genome Curation Page Triplosensitivity No evidence available (Last evaluated 2015-03-11) ClinGen Genome Curation Page

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

General gene information

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Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables G protein-coupled receptor activity	IEA Inferred from Electronic Annotation more info
enables odorant binding	IBA Inferred from Biological aspect of Ancestor more info
enables olfactory receptor activity	IBA Inferred from Biological aspect of Ancestor more info

Process	Evidence Code	Pubs
involved_in G protein-coupled receptor signaling pathway	IEA Inferred from Electronic Annotation more info
involved_in detection of chemical stimulus involved in sensory perception of smell	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in plasma membrane	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: olfactory receptor 5AU1

Names: olfactory receptor OR14-38

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_001004731.3 → NP_001004731.2 olfactory receptor 5AU1

Status: VALIDATED

Source sequence(s)

AL157687

Consensus CDS

CCDS32042.2

UniProtKB/Swiss-Prot

B2RP78, Q6IEU2, Q8NGC0, Q96R10

UniProtKB/TrEMBL

A0A126GVW7, A0A286YF24

Related

ENSP00000302057.4, ENST00000304418.5

Conserved Domains (1) summary

cd15408
Location:12 → 298

7tmA_OR5AK3-like; olfactory receptor subfamily 5AK3, 5AU1, and related proteins, member of the class A family of seven-transmembrane G protein-coupled receptors