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    OTOP3 otopetrin 3 [ Homo sapiens (human) ]

    Gene ID: 347741, updated on 9-Dec-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, Dec 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
    • 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

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