TIMMDC1
Sign in to saveAlso known as C3orf1, translocase of inner mitochondrial membrane domain containing 1, MC1DN31
TIMMDC1 is a protein that in humans is encoded by the TIMMDC1 gene. It is a chaperone protein involved in constructing the membrane arm of mitochondrial Complex I. A frameshift mutation in an intron of this gene has been shown to cause failure to thrive, retardation of psychomotor development, infantile-onset hypotonia, and severe neurologic dysfunction. High expression of this gene has been associated with migration of lung cancer cells while depletion of the protein has been shown to affect regulation of apoptosis, the cell cycle, and cell migration.
Gene data
TIMMDC1- Name
- translocase of inner mitochondrial membrane domain containing 1
- Type
- protein-coding
- Position
- 119,498,515–119,525,090 (+)
- Aliases
- C3orf1, MC1DN31
- Ensembl
- ENSG00000113845
- RefSeq RNA
- NM_001438040.1, NM_016589.4
- RefSeq protein
- NP_001424969.1, NP_057673.2
Located in mitochondrion and nucleoplasm. Implicated in nuclear type mitochondrial complex I deficiency 31. [provided by Alliance of Genome Resources, Apr 2022]
Gene Ontology
Biological process
Molecular function
Pathways
via MyGene.info
Gene · Ensembl
translocase of inner mitochondrial membrane domain containing 1
- Symbol
- TIMMDC1
- Biotype
- Protein coding
- Organism
- Homo sapiens
- Location
- 3:119,498,515-119,525,090
- Strand
- Forward (+)
- Assembly
- GRCh38
via Ensembl · EMBL-EBI
Wikidata facts
- Instance of
- gene
Show 8 more facts
- HomoloGene ID
- 9578
- found in taxon
- Homo sapiens
- exact match
- identifiers.org/ncbigene/51300
- chromosome
- human chromosome 3
- genomic start
- 119498547
- genomic end
- 119243937
- cytogenetic location
- 3q13.33
- expressed in
- biceps brachii
Sources (3)
via Wikidata · CC0
~2 min read
Encyclopedic overview
7 sectionsContents
- Structure
- Function
- Clinical Significance
- Interactions
- References
- External links
- Further reading
TIMMDC1 is a protein that in humans is encoded by the TIMMDC1 gene. It is a chaperone protein involved in constructing the membrane arm of mitochondrial Complex I. A frameshift mutation in an intron of this gene has been shown to cause failure to thrive, retardation of psychomotor development, infantile-onset hypotonia, and severe neurologic dysfunction. High expression of this gene has been associated with migration of lung cancer cells while depletion of the protein has been shown to affect regulation of apoptosis, the cell cycle, and cell migration.
== Structure == The TIMMDC1 gene is located on the q arm of chromosome 3 in position 13.33 and spans 25,760 base pairs, with 7 exons. The gene produces a 32.2 kDa protein composed of 285 amino acids. The TIMMDC1 protein has 4 transmembrane domains, with the N-terminal and C-terminal extensions localized in the mitochondrial matrix. TIMMDC1 is a multipass mitochondrial inner membrane protein, predicted to be a member of the 4-pass transmembrane protein family of TIM17-TIM22-TIM23. Its topology is predicted to be analogous to TIMM23.
Excerpted from Wikipedia’s “TIMMDC1” article, available under the CC BY-SA 4.0 licence.