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OTOP3 otopetrin 3 [ Homo sapiens (human) ]

Gene ID: 347741, updated on 2-Nov-2024

Summary

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Official Symbol
OTOP3provided by HGNC
Official Full Name
otopetrin 3provided by HGNC
Primary source
HGNC:HGNC:19658
See related
Ensembl:ENSG00000182938 MIM:607828; AllianceGenome:HGNC:19658
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
Predicted to enable identical protein binding activity and proton channel activity. Predicted to be involved in proton transmembrane transport. Predicted to be located in plasma membrane. Predicted to be active in membrane. [provided by Alliance of Genome Resources, Nov 2024]
Expression
Biased expression in duodenum (RPKM 38.1), small intestine (RPKM 6.4) and 1 other tissue See more
Orthologs
mouse all
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Genomic context

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See OTOP3 in Genome Data Viewer
Location:
17q25.1
Exon count:
7
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (74935802..74949992)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (75827605..75841795)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (72931897..72946087)

Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12722 Neighboring gene USH1 protein network component sans Neighboring gene ReSE screen-validated silencer GRCh37_chr17:72920304-72920487 Neighboring gene otopetrin 2 Neighboring gene Sharpr-MPRA regulatory region 12431 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr17:72939523-72940722 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:72946212-72947170 Neighboring gene HID1 domain containing Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12723 Neighboring gene Sharpr-MPRA regulatory region 11423 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:72959394-72959894 Neighboring gene ReSE screen-validated silencer GRCh37_chr17:72960959-72961117 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8947 Neighboring gene HID1 antisense RNA 1 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:72978097-72979046 Neighboring gene uncharacterized LOC124904058

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues 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

Bibliography

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Related articles in PubMed

  1. Non-syndromic vestibular disorder with otoconial agenesis in tilted/mergulhador mice caused by mutations in otopetrin 1. Hurle B, et al. Hum Mol Genet, 2003 Apr 1. PMID 12651873
  2. Full-length transcriptome analysis of human retina-derived cell lines ARPE-19 and Y79 using the vector-capping method. Oshikawa M, et al. Invest Ophthalmol Vis Sci, 2011 Aug 22. PMID 21697133
  3. Sequential genome-wide CRISPR-Cas9 screens identify genes regulating cell-surface expression of tetraspanins. Yang J, et al. Cell Rep, 2023 Feb 28. PMID 36724073
  4. A reference map of the human binary protein interactome. Luck K, et al. Nature, 2020 Apr. PMID 32296183, Free PMC Article
  5. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. Strausberg RL, et al. Proc Natl Acad Sci U S A, 2002 Dec 24. PMID 12477932, Free PMC Article

See all (6) citations in PubMed

GeneRIFs: Gene References Into Functions

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

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables identical protein binding ISS
Inferred from Sequence or Structural Similarity
more info
  
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables proton channel activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables proton channel activity ISS
Inferred from Sequence or Structural Similarity
more info
  
Process Evidence Code Pubs
involved_in proton transmembrane transport IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in proton transmembrane transport ISS
Inferred from Sequence or Structural Similarity
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
proton channel OTOP3

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)

  1. NM_001272005.2 → NP_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
    Related
    ENSP00000328090.5, ENST00000328801.6
    Conserved Domains (1) summary
    pfam03189
    Location:144 → 564
    Otopetrin; Otopetrin

  2. NM_178233.2 → NP_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
    UniProtKB/Swiss-Prot
    A0A2U3TZI1, Q7RTS5
    Conserved Domains (1) summary
    pfam03189
    Location:162 → 582
    Otopetrin; Otopetrin

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000017.11 Reference GRCh38.p14 Primary Assembly

    Range
    74935802..74949992
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011524744.3 → XP_011523046.1  proton channel OTOP3 isoform X1

    Conserved Domains (1) summary
    pfam03189
    Location:138 → 553
    Otopetrin

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060941.1 Alternate T2T-CHM13v2.0

    Range
    75827605..75841795
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054315947.1 → XP_054171922.1  proton channel OTOP3 isoform X1

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q7RTS5.1 GenPept UniProtKB/Swiss-Prot:Q7RTS5

Gene LinkOut

The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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