U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

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

Gene ID: 10469, updated on 19-Sep-2024

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; AllianceGenome:HGNC:17316
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
NEW
Try the new Gene table
Try the new Transcript table

Genomic context

See TIMM44 in Genome Data Viewer
Location:
19p13.2
Exon count:
13
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (7926718..7943666, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (7927672..7944618, complement)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (7991603..8008551, complement)

Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10000 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10001 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:7986451-7987053 Neighboring gene uncharacterized LOC124904629 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10002 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10003 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:7991701-7992450 Neighboring gene small nuclear RNA activating complex polypeptide 2 Neighboring gene Sharpr-MPRA regulatory region 3551 Neighboring gene cortexin 1 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:8007572-8008115 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:8008116-8008658 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:8008659-8009202 Neighboring gene H3K27ac hESC enhancer GRCh37_chr19:8009203-8009745 Neighboring gene MPRA-validated peak3325 silencer Neighboring gene ELAV like RNA binding protein 1 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:8033572-8034184 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:8034185-8034798 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13904 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13905 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:8042669-8043169 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:8066604-8067215 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:8067216-8067826 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10006 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10007 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10008 Neighboring gene uncharacterized LOC105372266

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?

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Clone Names

  • DKFZp686H05241

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables ATP binding IEA
Inferred from Electronic Annotation
more info
 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables protein-folding chaperone binding IBA
Inferred from Biological aspect of Ancestor
more info
 
Process Evidence Code Pubs
involved_in intracellular protein transport NAS
Non-traceable Author Statement
more info
PubMed 
involved_in protein import into mitochondrial matrix IBA
Inferred from Biological aspect of Ancestor
more info
 
involved_in protein targeting to mitochondrion TAS
Traceable Author Statement
more info
PubMed 

General protein information

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

NCBI Reference Sequences (RefSeq)

NEW Try the new Transcript table

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
    5158..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
    A8K0R9, D6W664, O43615, Q8N193
    UniProtKB/TrEMBL
    Q53G69
    Related
    ENSP00000270538.2, ENST00000270538.8
    Conserved Domains (1) summary
    TIGR00984
    Location:65442
    3a0801s03tim44; mitochondrial import inner membrane, translocase subunit

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_000019.10 Reference GRCh38.p14 Primary Assembly

    Range
    7926718..7943666 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060943.1 Alternate T2T-CHM13v2.0

    Range
    7927672..7944618 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)