OR4C45 olfactory receptor family 4 subfamily C member 45 (gene/pseudogene) [Homo sapiens (human)] - Gene

Summary

Official Symbol: OR4C45provided by HGNC
Official Full Name: olfactory receptor family 4 subfamily C member 45 (gene/pseudogene)provided by HGNC
Primary source: HGNC:HGNC:31270
See related: Ensembl:ENSG00000260811 AllianceGenome:HGNC:31270
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
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. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]
Annotation information: Annotation category: suggests misassembly; Note: Genetic polymorphisms result in both protein coding and non-coding alleles of this gene.
Orthologs: all
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Genomic context

Location:: 11p11.12

Exon count:: 1

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	11	NC_000011.10 (50032874..50033794)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	11	NC_060935.1 (50210166..50211086)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	11 (PATCHES)	NW_003571045.1 (191765..192685)

Chromosome 11 - NC_000011.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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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
Genetic predictors of fibrin D-dimer levels in healthy adults. 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 4C45

Names: olfactory receptor, family 4, subfamily C, member 45

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_001005513.1 → NP_001005513.1 olfactory receptor 4C45

See identical proteins and their annotated locations for NP_001005513.1

Status: VALIDATED

Description

Transcript Variant: This variant (1, coding) represents the functional allele encoding the full-length protein.

Source sequence(s)

AC110057

UniProtKB/Swiss-Prot

A6NMZ5

Conserved Domains (2) summary

pfam00001
Location:36 → 282

7tm_1; 7 transmembrane receptor (rhodopsin family)

cl21561
Location:26 → 296

7tm_4; Olfactory receptor

RNA

NR_160275.1 RNA Sequence

Status: VALIDATED

Description

Transcript Variant: This variant (1, noncoding) represents the reference genome allele, which does not encode a full-length protein and is predicted to be non-functional.

Source sequence(s)

FP710250

Related

ENST00000568934.1