OR52E1 olfactory receptor family 52 subfamily E member 1 (gene/pseudogene) [Homo sapiens (human)] - Gene

Summary

Official Symbol: OR52E1provided by HGNC
Official Full Name: olfactory receptor family 52 subfamily E member 1 (gene/pseudogene)provided by HGNC
Primary source: HGNC:HGNC:14766
See related: Ensembl:ENSG00000273085 AllianceGenome:HGNC:14766
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: OR52E1P
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, Jan 2017]
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:: 11p15.4

Exon count:: 1

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	11	NC_000011.10 (5069572..5070497)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	11	NC_060935.1 (5126471..5127397)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	11	NC_000011.9 (5090802..5091727)

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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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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Markers

ECD02628 (e-PCR)
- UniSTS:283722

stSG610726 (e-PCR)
- UniSTS:448859

stSG610727 (e-PCR)
- UniSTS:448860

REN96701 (e-PCR)
- UniSTS:421499

REN96702 (e-PCR)
- UniSTS:421500

REN96703 (e-PCR)
- UniSTS:421501

REN96704 (e-PCR)
- UniSTS:421502

REN96705 (e-PCR)
- UniSTS:421503

REN96706 (e-PCR)
- UniSTS:421504

REN96707 (e-PCR)
- UniSTS:421505

REN96708 (e-PCR)
- UniSTS:421506

REN96709 (e-PCR)
- UniSTS:421507

REN96710 (e-PCR)
- UniSTS:421508

REN96711 (e-PCR)
- UniSTS:421509

REN96712 (e-PCR)
- UniSTS:421510

REN96713 (e-PCR)
- UniSTS:421511

REN96714 (e-PCR)
- UniSTS:421512

REN96715 (e-PCR)
- UniSTS:421513

ECD04268 (e-PCR)
- UniSTS:285346

ECD21520 (e-PCR)
- UniSTS:302515

ECD05650 (e-PCR)
- UniSTS:286713

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 52E1

Names: olfactory receptor, family 52, subfamily E, member 1 pseudogene; seven transmembrane helix receptor

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_001348221.2 → NP_001335150.1 olfactory receptor 52E1

Status: VALIDATED

Description

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

Source sequence(s)

AB065801, AC113331

UniProtKB/Swiss-Prot

Q8NGJ3

UniProtKB/TrEMBL

A0A126GVB3

Conserved Domains (1) summary

cd15952
Location:24 → 297

7tmA_OR52E-like; olfactory receptor subfamily 52E and related proteins, member of the class A family of seven-transmembrane G protein-coupled receptors

RNA

NR_145505.2 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)

AC113331

Related

ENST00000445557.1