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OTOR otoraplin [ Homo sapiens (human) ]

Gene ID: 56914, updated on 13-Feb-2019

Summary

Official Symbol
OTORprovided by HGNC
Official Full Name
otoraplinprovided by HGNC
Primary source
HGNC:HGNC:8517
See related
Ensembl:ENSG00000125879 MIM:606067
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

Genomic context

See OTOR in Genome Data Viewer
Location:
20p12.1
Exon count:
4
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 20 NC_000020.11 (16748353..16752164)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 20 NC_000020.10 (16728998..16732809)

Chromosome 20 - NC_000020.11Genomic Context describing neighboring genes Neighboring gene ribosomal protein L7a pseudogene 13 Neighboring gene small nuclear ribonucleoprotein polypeptide B2 Neighboring gene uncharacterized LOC105372544 Neighboring gene RNA, U6 small nuclear 27, pseudogene Neighboring gene RNA, U1 small nuclear 131, pseudogene

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

Phenotypes

NHGRI GWAS Catalog

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

General gene information

Markers

Homology

Clone Names

  • MGC126737, MGC126739

Gene Ontology Provided by GOA

Process Evidence Code Pubs
cartilage condensation IEA
Inferred from Electronic Annotation
more info
 
sensory perception of sound TAS
Traceable Author Statement
more info
PubMed 
Component Evidence Code Pubs
extracellular region IEA
Inferred from Electronic Annotation
more info
 

General protein information

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

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_020157.3NP_064542.1  otoraplin precursor

    See identical proteins and their annotated locations for NP_064542.1

    Status: REVIEWED

    Source sequence(s)
    AJ242552, BC101688, BI495573
    Consensus CDS
    CCDS13124.1
    UniProtKB/Swiss-Prot
    Q9NRC9
    Related
    ENSP00000246081.2, ENST00000246081.2
    Conserved Domains (1) summary
    cd11891
    Location:31112
    MIAL; Melanoma Inhibitory Activity-Like protein

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000020.11 Reference GRCh38.p12 Primary Assembly

    Range
    16748353..16752164
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017027959.2XP_016883448.1  otoraplin isoform X1

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