OR52K1 olfactory receptor family 52 subfamily K member 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: OR52K1provided by HGNC
Official Full Name: olfactory receptor family 52 subfamily K member 1provided by HGNC
Primary source: HGNC:HGNC:15222
See related: Ensembl:ENSG00000196778 AllianceGenome:HGNC:15222
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: OR11-8
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: all
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Genomic context

Location:: 11p15.4

Exon count:: 2

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	11	NC_000011.10 (4482646..4493497)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	11	NC_060935.1 (4547765..4558606)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	11	NC_000011.9 (4503876..4514727)

Chromosome 11 - NC_000011.10 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?

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

EBI GWAS Catalog

Description
A high-density genome-wide association screen of sporadic ALS in US veterans. EBI GWAS Catalog EBI GWAS CatalogPubMed
Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population. EBI GWAS Catalog EBI GWAS CatalogPubMed

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 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
is_active_in plasma membrane	IBA Inferred from Biological aspect of Ancestor more info

General protein information

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Preferred Names: olfactory receptor 52K1

Names: olfactory receptor OR11-8

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_001005171.3 → NP_001005171.2 olfactory receptor 52K1 isoform 1

See identical proteins and their annotated locations for NP_001005171.2

Status: VALIDATED

Source sequence(s)

AC010930

Consensus CDS

CCDS31352.1

UniProtKB/Swiss-Prot

B9EH54, Q6IFK5, Q8NGK4

UniProtKB/TrEMBL

A0A126GVF2, A0A126GWP0

Related

ENSP00000493011.1, ENST00000641528.1

Conserved Domains (2) summary

pfam00001
Location:43 → 294

7tm_1; 7 transmembrane receptor (rhodopsin family)

cl21561
Location:33 → 312

7tm_4; Olfactory receptor
NM_001385736.1 → NP_001372665.1 olfactory receptor 52K1 isoform 2

Status: VALIDATED

Source sequence(s)

AC010930

Consensus CDS

CCDS91422.1

UniProtKB/TrEMBL

A0A126GWP0, A0A2R8Y546

Related

ENSP00000494197.1, ENST00000642020.1

Conserved Domains (1) summary

cd15948
Location:13 → 289

7tmA_OR52K-like; olfactory receptor subfamily 52K and related proteins, member of the class A family of seven-transmembrane G protein-coupled receptors