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TIMM50 translocase of inner mitochondrial membrane 50 [ Homo sapiens (human) ]

Gene ID: 92609, updated on 7-Jun-2020

Summary

Official Symbol
TIMM50provided by HGNC
Official Full Name
translocase of inner mitochondrial membrane 50provided by HGNC
Primary source
HGNC:HGNC:23656
See related
Ensembl:ENSG00000105197 MIM:607381
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
MGCA9; TIM50; TIM50L
Summary
This gene encodes a subunit of the TIM23 inner mitochondrial membrane translocase complex. The encoded protein functions as the receptor subunit that recognizes the mitochondrial targeting signal, or presequence, on protein cargo that is destined for the mitochondrial inner membrane and matrix. This protein may also play a role in maintaining the membrane permeability barrier, and knockdown of this gene in human cells results in the release of cytochrome c and apoptosis. [provided by RefSeq, Jul 2016]
Expression
Ubiquitous expression in testis (RPKM 9.8), thyroid (RPKM 6.2) and 25 other tissues See more
Orthologs

Genomic context

See TIMM50 in Genome Data Viewer
Location:
19q13.2
Exon count:
11
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 19 NC_000019.10 (39480838..39493779)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (39971052..39981528)

Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene ribosomal protein S16 Neighboring gene SPT5 homolog, DSIF elongation factor subunit Neighboring gene small nucleolar RNA, C/D box 175 Neighboring gene delta like canonical Notch ligand 3 Neighboring gene selenoprotein V

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

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC102733

Gene Ontology Provided by GOA

Function Evidence Code Pubs
RNA binding IEA
Inferred from Electronic Annotation
more info
 
interleukin-2 receptor binding IDA
Inferred from Direct Assay
more info
PubMed 
phosphoprotein phosphatase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
phosphoprotein phosphatase activity IDA
Inferred from Direct Assay
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein serine/threonine phosphatase activity IDA
Inferred from Direct Assay
more info
PubMed 
protein tyrosine phosphatase activity IDA
Inferred from Direct Assay
more info
PubMed 
ribonucleoprotein complex binding IDA
Inferred from Direct Assay
more info
PubMed 
Process Evidence Code Pubs
mitochondrial membrane organization IMP
Inferred from Mutant Phenotype
more info
PubMed 
peptidyl-tyrosine dephosphorylation IEA
Inferred from Electronic Annotation
more info
 
protein dephosphorylation IDA
Inferred from Direct Assay
more info
PubMed 
protein import into mitochondrial matrix IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
release of cytochrome c from mitochondria IDA
Inferred from Direct Assay
more info
PubMed 
Component Evidence Code Pubs
TIM23 mitochondrial import inner membrane translocase complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
TIM23 mitochondrial import inner membrane translocase complex IPI
Inferred from Physical Interaction
more info
PubMed 
integral component of membrane IEA
Inferred from Electronic Annotation
more info
 
mitochondrial inner membrane IDA
Inferred from Direct Assay
more info
PubMed 
mitochondrion IDA
Inferred from Direct Assay
more info
 
nuclear speck IDA
Inferred from Direct Assay
more info
PubMed 
nucleoplasm IDA
Inferred from Direct Assay
more info
 

General protein information

Preferred Names
mitochondrial import inner membrane translocase subunit TIM50
Names
Tim50-like protein
homolog of yeast Tim50

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.

Genomic

  1. NG_051245.1 RefSeqGene

    Range
    5427..18368
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001001563.5NP_001001563.2  mitochondrial import inner membrane translocase subunit TIM50 isoform 1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes the longer isoform (1).
    Source sequence(s)
    AC011500, AK098197, BC014674, BC050082, BI856163, BM463473, BU540967
    Consensus CDS
    CCDS33023.1
    Related
    ENSP00000475531.1, ENST00000607714.6
    Conserved Domains (1) summary
    cd07521
    Location:147262
    HAD_FCP1-like; human CTD phosphatase subunit 1 (CTDP1/FCP1) and related proteins; belongs to the haloacid dehalogenase-like superfamily
  2. NM_001329559.2NP_001316488.1  mitochondrial import inner membrane translocase subunit TIM50 isoform 2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR, uses a downstream translation start site and lacks an alternate in-frame exon in its 5' coding region compared to variant 1. The encoded isoform (2) is shorter than isoform 1.
    Source sequence(s)
    AC011500, BC014674, BC050082, BC121146
    UniProtKB/Swiss-Prot
    Q3ZCQ8
    Conserved Domains (1) summary
    cd07521
    Location:34149
    HAD_FCP1-like; human CTD phosphatase subunit 1 (CTDP1/FCP1) and related proteins; belongs to the haloacid dehalogenase-like superfamily

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000019.10 Reference GRCh38.p13 Primary Assembly

    Range
    39480838..39493779
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011527491.3XP_011525793.1  mitochondrial import inner membrane translocase subunit TIM50 isoform X1

    Conserved Domains (1) summary
    pfam03031
    Location:136283
    NIF; NLI interacting factor-like phosphatase
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