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

Gene ID: 92609, updated on 4-Dec-2022

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; AllianceGenome:HGNC:23656
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
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Genomic context

See TIMM50 in Genome Data Viewer
Location:
19q13.2
Exon count:
12
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (39480838..39493779)
110 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (42285093..42298036)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (39971478..39984419)

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 uncharacterized LOC124904718 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
enables RNA binding IEA
Inferred from Electronic Annotation
more info
 
enables interleukin-2 receptor binding IDA
Inferred from Direct Assay
more info
PubMed 
enables phosphoprotein phosphatase activity IDA
Inferred from Direct Assay
more info
PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables protein serine/threonine phosphatase activity IDA
Inferred from Direct Assay
more info
PubMed 
enables protein tyrosine phosphatase activity IDA
Inferred from Direct Assay
more info
PubMed 
enables ribonucleoprotein complex binding IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

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

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.

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
    CCDS33023.2
    UniProtKB/Swiss-Prot
    Q9H370
    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 Annotation Release 110 details...Open this link in a new tab

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000019.10 Reference GRCh38.p14 Primary Assembly

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

mRNA and Protein(s)

  1. XM_011527491.4XP_011525793.1  mitochondrial import inner membrane translocase subunit TIM50 isoform X1

    Conserved Domains (1) summary
    pfam03031
    Location:136283
    NIF; NLI interacting factor-like phosphatase
  2. XM_047439681.1XP_047295637.1  mitochondrial import inner membrane translocase subunit TIM50 isoform X2

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060943.1 Alternate T2T-CHM13v2.0

    Range
    42285093..42298036
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)