OR4E1 olfactory receptor family 4 subfamily E member 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: OR4E1provided by HGNC
Official Full Name: olfactory receptor family 4 subfamily E member 1provided by HGNC
Primary source: HGNC:HGNC:8296
See related: Ensembl:ENSG00000276240 AllianceGenome:HGNC:8296
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: OR4E1P
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]
Annotation information: Note: Genetic polymorphisms result in both protein coding and non-coding alleles of this gene.
Orthologs: all
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Genomic context

Location:: 14q11.2

Exon count:: 2

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	14	NC_000014.9 (21667886..21673818, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	14	NC_060938.1 (15865551..15871484, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	14	NC_000014.8 (22136100..22142033, 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?

Submit: New GeneRIF Correction

Phenotypes

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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)

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	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
is_active_in membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in plasma membrane	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: olfactory receptor 4E1

Names: olfactory receptor OR14-43; olfactory receptor, family 4, subfamily E, member 1 pseudogene

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.

Genomic

NG_001332.3

Range

47988..49132 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001317107.2 → NP_001304036.1 olfactory receptor 4E1

Status: VALIDATED

Description

Transcript Variant: This variant (1, coding) represents the protein-coding allele encoded by the GRCh38 reference genome.

Source sequence(s)

AC243972

Consensus CDS

CCDS86370.1

UniProtKB/Swiss-Prot

A0A126GWU0, P0C645

Related

ENSP00000493111.1, ENST00000641792.2

Conserved Domains (1) summary

cd15940
Location:29 → 295

7tmA_OR4E-like; olfactory receptor 4E and related proteins, member of the class A family of seven-transmembrane G protein-coupled receptors

RNA

NR_178066.1 RNA Sequence

Status: VALIDATED

Description

Transcript Variant: This variant (1, non-coding) uses the same exon combination as variant 1, coding, but represents the allele encoded by the T2T-CHM13v2.0 genome assembly. This variant is represented as non-coding because a frameshift in the central coding region results in a premature stop codon.

Source sequence(s)

CP068264