OR5H6 olfactory receptor family 5 subfamily H member 6 [Homo sapiens (human)] - Gene

Summary

Official Symbol: OR5H6provided by HGNC
Official Full Name: olfactory receptor family 5 subfamily H member 6provided by HGNC
Primary source: HGNC:HGNC:14767
See related: Ensembl:ENSG00000230301 AllianceGenome:HGNC:14767
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: OR3-11
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. This olfactory receptor gene is a segregating pseudogene, where some individuals have an allele that encodes a functional olfactory receptor, while other individuals have an allele encoding a protein that is predicted to be non-functional. [provided by RefSeq, Jul 2015]
Annotation information: Note: Genetic polymorphisms result in both protein coding and non-coding alleles of this gene.
Expression: Low expression observed in reference dataset See more
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Genomic context

Location:: 3q11.2

Exon count:: 1

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	3	NC_000003.12 (98264244..98265356)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	3	NC_060927.1 (100967976..100969088)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	3	NC_000003.11 (97983088..97984200)

Chromosome 3 - NC_000003.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Submit: New GeneRIF Correction

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

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 5H6

Names: olfactory receptor OR3-11

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_001005479.2 → NP_001005479.2 olfactory receptor 5H6

Status: VALIDATED

Source sequence(s)

BC137523

Consensus CDS

CCDS33800.2

UniProtKB/Swiss-Prot

Q6IF88, Q8NGV6

UniProtKB/TrEMBL

A0A087WX40, A0A126GW86

Related

ENSP00000480705.3, ENST00000615035.3

Conserved Domains (2) summary

cd14964
Location:27 → 51

7tm_GPCRs; TM helix 1 [structural motif]

cl28897
Location:25 → 303

7tm_GPCRs; seven-transmembrane G protein-coupled receptor superfamily