TIMM44 Gene Summary [Human]

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]

Details

Type
Retained Intron
Official Symbol
TIMM44
Official Name
translocase of inner mitochondrial membrane 44 [Source:HGNC Symbol;Acc:HGNC:17316]
Ensembl ID
ENSG00000104980
Bio databases IDs NCBI: 10469 Ensembl: ENSG00000104980
Aliases translocase of inner mitochondrial membrane 44
Synonyms 0710005E20RIK, D8Ertd118e, Mimt44, TIM44, translocase of inner mitochondrial membrane 44
Species
Human, Homo sapiens
OrthologiesMouseRat

Protein Domains

A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human TIMM44 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
  • Tim44-like domain
  • enzyme binding
  • protein binding
  • chaperone binding
  • mitochondrial import inner membrane, translocase subunit
  • Apolipophorin-III precursor (apoLp-III)
  • transporter

Pathways

Biological processes and signaling networks where the TIMM44 gene in human plays a role, providing insight into its function and relevance in health or disease.

Top Findings

The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
  • breast cancer
regulated by
  • KDM5A
  • mir-154 (includes others)
  • mir-541
  • mir-433
  • mir-329 (includes others)
  • mir-431
  • mir-379 (includes others)
  • mir-127
  • MYB family
  • FOXO1

Subcellular Expression

Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
  • Cytoplasm
  • fibrillar center
  • Mitochondria
  • cytosol
  • mitochondrial cristae
  • mitochondrial matrix
  • mitochondrial inner membrane
  • mitoplasts

Gene Ontology Annotations

Describes the biological processes, cellular components, and molecular functions associated with the human TIMM44 gene, providing context for its role in the cell.

Biological Process

Functions and activities the gene product is involved in
  • protein targeting to mitochondrion
  • protein import into mitochondrial matrix
  • intracellular protein transport

Cellular Component

Where in the cell the gene product is active
  • mitochondrial inner membrane presequence translocase complex
  • mitochondrial matrix
  • mitochondrion
  • mitochondrial inner membrane
  • fibrillar center

Molecular Function

What the gene product does at the molecular level
  • ATP binding
  • protein binding
  • chaperone binding

Gene-Specific Assays for Results You Can Trust

Streamline your workflow with assays designed for this gene. Our targeted dPCR and qPCR assays help you generate meaningful data – efficiently and accurately.