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    OTOR otoraplin [ Homo sapiens (human) ]

    Gene ID: 56914, updated on 2-Nov-2024

    Summary

    Official Symbol
    OTORprovided by HGNC
    Official Full Name
    otoraplinprovided by HGNC
    Primary source
    HGNC:HGNC:8517
    See related
    Ensembl:ENSG00000125879 MIM:606067; AllianceGenome:HGNC:8517
    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
    Also known as
    FDP; MIAL1
    Summary
    This gene encodes a member of the melanoma-inhibiting activity gene family. The encoded protein is secreted via the Golgi apparatus and may function in cartilage development and maintenance. A frequent polymorphism in the translation start codon of this gene can abolish translation and may be associated with forms of deafness. [provided by RefSeq, Jul 2013]
    Expression
    Low expression observed in reference dataset See more
    Orthologs
    NEW
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    Try the new Transcript table

    Genomic context

    See OTOR in Genome Data Viewer
    Location:
    20p12.1
    Exon count:
    4
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 20 NC_000020.11 (16748358..16752164)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 20 NC_060944.1 (16799479..16803287)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 20 NC_000020.10 (16729003..16732809)

    Chromosome 20 - NC_000020.11Genomic Context describing neighboring genes Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_59901 Neighboring gene ribosomal protein L7a pseudogene 13 Neighboring gene H3K27ac hESC enhancer GRCh37_chr20:16709782-16710650 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17562 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17563 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12684 Neighboring gene small nuclear ribonucleoprotein polypeptide B2 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:16911071-16911646 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:16956495-16957021 Neighboring gene uncharacterized LOC124904984 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr20:17004880-17006079 Neighboring gene uncharacterized LOC105372544 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:17160147-17160648 Neighboring gene RNA, U6 small nuclear 27, pseudogene

    Genomic regions, transcripts, and products

    Expression

    • 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    EBI GWAS Catalog

    Description
    Genome-wide association study identifies new susceptibility loci for posttraumatic stress disorder.
    EBI GWAS Catalog

    Interactions

    General gene information

    Clone Names

    • MGC126737, MGC126739

    Gene Ontology Provided by GOA

    Component Evidence Code Pubs
    located_in extracellular region  

    General protein information

    Preferred Names
    otoraplin
    Names
    fibrocyte-derived protein
    melanoma inhibitory activity-like protein

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_020157.4NP_064542.1  otoraplin precursor

      See identical proteins and their annotated locations for NP_064542.1

      Status: REVIEWED

      Source sequence(s)
      AL034428
      Consensus CDS
      CCDS13124.1
      UniProtKB/Swiss-Prot
      D3DW22, Q3MIU6, Q9NRC9
      Related
      ENSP00000246081.3, ENST00000246081.3
      Conserved Domains (1) summary
      cd11891
      Location:31112
      MIAL; Melanoma Inhibitory Activity-Like protein

    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_000020.11 Reference GRCh38.p14 Primary Assembly

      Range
      16748358..16752164
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017027959.3XP_016883448.1  otoraplin isoform X1

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060944.1 Alternate T2T-CHM13v2.0

      Range
      16799479..16803287
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054323723.1XP_054179698.1  otoraplin isoform X1

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