Format

Send to:

Choose Destination

TIMM44 translocase of inner mitochondrial membrane 44 [ Homo sapiens (human) ]

Gene ID: 10469, updated on 9-Dec-2018

Summary

Official Symbol
TIMM44provided by HGNC
Official Full Name
translocase of inner mitochondrial membrane 44provided by HGNC
Primary source
HGNC:HGNC:17316
See related
Ensembl:ENSG00000104980 MIM:605058
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
TIM44
Summary
This gene encodes a peripheral membrane protein associated with the mitochondrial inner membrane translocase, which functions in the import of proteins across the mitochondrial inner membrane and into the mitochondrial matrix. The encoded protein mediates binding of mitochondrial heat shock protein 70 to the translocase of inner mitochondrial membrane 23 (TIM23) complex. Expression of this gene is upregulated in kidney in a mouse model of diabetes. A mutation in this gene is associated with familial oncocytic thyroid carcinoma. [provided by RefSeq, Jul 2016]
Expression
Ubiquitous expression in heart (RPKM 13.8), thyroid (RPKM 10.9) and 25 other tissues See more
Orthologs

Genomic context

See TIMM44 in Genome Data Viewer
Location:
19p13.2
Exon count:
13
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 19 NC_000019.10 (7926718..7943823, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (7991603..8008708, complement)

Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene small nuclear RNA activating complex polypeptide 2 Neighboring gene cortexin 1 Neighboring gene ELAV like RNA binding protein 1 Neighboring gene uncharacterized LOC105372266

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 FunctionsWhat's a GeneRIF?

Pathways from BioSystems

  • Metabolism of proteins, organism-specific biosystem (from REACTOME)
    Metabolism of proteins, organism-specific biosystemProtein metabolism comprises the pathways of translation, post-translational modification and protein folding.
  • Mitochondrial protein import, organism-specific biosystem (from REACTOME)
    Mitochondrial protein import, organism-specific biosystemA human mitochondrion contains about 1500 proteins, more than 99% of which are encoded in the nucleus, synthesized in the cytosol and imported into the mitochondrion. Proteins are targeted to four lo...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • DKFZp686H05241

Gene Ontology Provided by GOA

Function Evidence Code Pubs
ATP binding IEA
Inferred from Electronic Annotation
more info
 
chaperone binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
protein import into mitochondrial matrix IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
protein targeting to mitochondrion TAS
Traceable Author Statement
more info
PubMed 
Component Evidence Code Pubs
mitochondrial inner membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
mitochondrial inner membrane IDA
Inferred from Direct Assay
more info
PubMed 
mitochondrial matrix IDA
Inferred from Direct Assay
more info
PubMed 
mitochondrion IDA
Inferred from Direct Assay
more info
 

General protein information

Preferred Names
mitochondrial import inner membrane translocase subunit TIM44
Names
translocase of inner mitochondrial membrane 44 homolog

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_051180.1 RefSeqGene

    Range
    5001..22106
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_006351.4NP_006342.2  mitochondrial import inner membrane translocase subunit TIM44

    See identical proteins and their annotated locations for NP_006342.2

    Status: REVIEWED

    Source sequence(s)
    AC010336, AK289634, BC033628
    Consensus CDS
    CCDS12192.1
    UniProtKB/Swiss-Prot
    O43615
    Related
    ENSP00000270538.2, ENST00000270538.7
    Conserved Domains (1) summary
    TIGR00984
    Location:65442
    3a0801s03tim44; mitochondrial import inner membrane, translocase subunit

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_000019.10 Reference GRCh38.p12 Primary Assembly

    Range
    7926718..7943823 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Support Center