Format

Send to:

Choose Destination

OTOP3 otopetrin 3 [ Homo sapiens (human) ]

Gene ID: 347741, updated on 26-Oct-2020

Summary

Official Symbol
OTOP3provided by HGNC
Official Full Name
otopetrin 3provided by HGNC
Primary source
HGNC:HGNC:19658
See related
Ensembl:ENSG00000182938 MIM:607828
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
Expression
Biased expression in duodenum (RPKM 38.1), small intestine (RPKM 6.4) and 1 other tissue See more
Orthologs

Genomic context

See OTOP3 in Genome Data Viewer
Location:
17q25.1
Exon count:
7
Annotation release Status Assembly Chr Location
109.20200815 current GRCh38.p13 (GCF_000001405.39) 17 NC_000017.11 (74935802..74949993)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (72931897..72946087)

Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene USH1 protein network component sans Neighboring gene otopetrin 2 Neighboring gene Sharpr-MPRA regulatory region 12431 Neighboring gene HID1 domain containing Neighboring gene HID1 antisense RNA 1 Neighboring gene cerebellar degeneration related protein 2 like

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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
proton channel activity ISS
Inferred from Sequence or Structural Similarity
more info
 
Process Evidence Code Pubs
proton transmembrane transport ISS
Inferred from Sequence or Structural Similarity
more info
 
Component Evidence Code Pubs
integral component of membrane IEA
Inferred from Electronic Annotation
more info
 
plasma membrane IEA
Inferred from Electronic Annotation
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_001272005.2NP_001258934.1  proton channel OTOP3 isoform 2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) uses alternate splice sites at the end of two exons compared to variant 1. The resulting isoform (2) has a shorter and distinct N-terminus compared to isoform 1.
    Source sequence(s)
    AB593153, AC087651, BK000568
    Consensus CDS
    CCDS86637.1
    UniProtKB/Swiss-Prot
    Q7RTS5
    Related
    ENSP00000328090.5, ENST00000328801.6
    Conserved Domains (1) summary
    pfam03189
    Location:144564
    Otopetrin; Otopetrin
  2. NM_178233.2NP_839947.1  proton channel OTOP3 isoform 1

    See identical proteins and their annotated locations for NP_839947.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) encodes the longer isoform (1).
    Source sequence(s)
    AC087651, BK000568
    Consensus CDS
    CCDS11709.1
    UniProtKB/Swiss-Prot
    Q7RTS5
    Conserved Domains (1) summary
    pfam03189
    Location:162582
    Otopetrin; Otopetrin

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20200815

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000017.11 Reference GRCh38.p13 Primary Assembly

    Range
    74935802..74949993
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011524744.2XP_011523046.1  proton channel OTOP3 isoform X1

    Conserved Domains (1) summary
    pfam03189
    Location:138553
    Otopetrin
Support Center