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OTOP1 otopetrin 1 [ Homo sapiens (human) ]

Gene ID: 133060, updated on 1-Jun-2020

Summary

Official Symbol
OTOP1provided by HGNC
Official Full Name
otopetrin 1provided by HGNC
Primary source
HGNC:HGNC:19656
See related
Ensembl:ENSG00000163982 MIM:607806
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Summary
This gene encodes a transmembrane protein which belongs to the otopetrin domain protein family and is required for the formation of otoconia and otoliths, calcium carbonate biominerals within the inner ear of mammals that are required for the detection of linear acceleration and gravity. This gene modulates purinergic control of intracellular calcium in vestibular supporting cells. Naturally occurring mutations in the orthologous mouse gene are associated with nonsyndromic otoconia agenesis and a consequent balance defect. The orthologous mouse gene is also induced in white adipose tissue during obesity. The encoded protein is a component of a counterinflammatory pathway that attenuates obesity-induced adipose tissue inflammation and plays an adaptive role in maintaining metabolic homeostasis in obesity. [provided by RefSeq, Jul 2017]
Expression
Low expression observed in reference dataset See more
Orthologs

Genomic context

See OTOP1 in Genome Data Viewer
Location:
4p16.3
Exon count:
6
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 4 NC_000004.12 (4188726..4226929, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (4190530..4228621, complement)

Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene olfactory receptor family 7 subfamily E member 99 pseudogene Neighboring gene olfactory receptor family 7 subfamily E member 43 pseudogene Neighboring gene transmembrane protein 128 Neighboring gene Sharpr-MPRA regulatory region 9855

Genomic regions, transcripts, and products

Expression

  • 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

General gene information

Markers

Homology

Clone Names

  • MGC163302, MGC163304

Gene Ontology Provided by GOA

Function Evidence Code Pubs
proton channel activity IDA
Inferred from Direct Assay
more info
PubMed 
Process Evidence Code Pubs
biomineral tissue development IEA
Inferred from Electronic Annotation
more info
 
cellular response to insulin stimulus ISS
Inferred from Sequence or Structural Similarity
more info
 
detection of gravity IEA
Inferred from Electronic Annotation
more info
 
inner ear morphogenesis IEA
Inferred from Electronic Annotation
more info
 
negative regulation of interferon-gamma-mediated signaling pathway ISS
Inferred from Sequence or Structural Similarity
more info
 
proton transmembrane transport IDA
Inferred from Direct Assay
more info
PubMed 
Component Evidence Code Pubs
integral component of plasma membrane ISS
Inferred from Sequence or Structural Similarity
more info
 

NCBI Reference Sequences (RefSeq)

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)

  1. NM_177998.3NP_819056.1  proton channel OTOP1

    See identical proteins and their annotated locations for NP_819056.1

    Status: REVIEWED

    Source sequence(s)
    AC011744, BC130432, BK000653
    Consensus CDS
    CCDS3372.1
    UniProtKB/Swiss-Prot
    Q7RTM1
    Related
    ENSP00000296358.4, ENST00000296358.4
    Conserved Domains (1) summary
    pfam03189
    Location:133598
    Otopetrin; Otopetrin

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000004.12 Reference GRCh38.p13 Primary Assembly

    Range
    4188726..4226929 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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