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OTOR otoraplin [ Homo sapiens (human) ]

Gene ID: 56914, updated on 17-Sep-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
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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

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Clone Names

  • MGC126737, MGC126739

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
involved_in cartilage condensation IBA
Inferred from Biological aspect of Ancestor
more info
 
involved_in sensory perception of sound TAS
Traceable Author Statement
more info
PubMed 
Component Evidence Code Pubs
located_in 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)

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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_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