TIMMDC1 translocase of inner mitochondrial membrane domain containing 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: TIMMDC1provided by HGNC
Official Full Name: translocase of inner mitochondrial membrane domain containing 1provided by HGNC
Primary source: HGNC:HGNC:1321
See related: Ensembl:ENSG00000113845 MIM:615534; AllianceGenome:HGNC:1321
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: C3orf1; MC1DN31
Summary: Located in mitochondrion and nucleoplasm. Implicated in nuclear type mitochondrial complex I deficiency 31. [provided by Alliance of Genome Resources, Nov 2024]
Expression: Ubiquitous expression in heart (RPKM 43.9), thyroid (RPKM 31.3) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 3q13.33

Exon count:: 7

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	3	NC_000003.12 (119498547..119525090)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	3	NC_060927.1 (122218265..122244808)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	3	NC_000003.11 (119217394..119243937)

Chromosome 3 - NC_000003.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

A membrane arm of mitochondrial complex I sufficient to promote respirasome formation.
Title: A membrane arm of mitochondrial complex I sufficient to promote respirasome formation.
Deep intronic TIMMDC1 variant delays diagnosis of rapidly progressive complex I deficiency.
Title: Deep intronic TIMMDC1 variant delays diagnosis of rapidly progressive complex I deficiency.
Whole exome sequencing of a patient with Leigh-like syndrome identified homozygous protein-truncating variants in TIMMDC1 which was predicted to truncate 61 amino acids at the C-terminus. Functional studies demonstrated a hypomorphic impact of the variant on CI assembly. However, the mutant protein could still rescue CI assembly in TIMMDC1 knockout cells.
Title: A patient with homozygous nonsense variants in two Leigh syndrome disease genes: Distinguishing a dual diagnosis from a hypomorphic protein-truncating variant.
Data suggest that the hub genes NADH:ubiquinone oxidoreductase subunit B5 (NDUFB5), translocase of inner mitochondrial membrane domain containing 1 (TIMMDC1), and voltage-dependent anion channel 3 (VDAC3) might serve as potential biomarkers for diagnosis and/or therapeutic targets for precise treatment of septic cardiomyopathy (SC) .
Title: Potentially Critical Roles of NDUFB5, TIMMDC1, and VDAC3 in the Progression of Septic Cardiomyopathy Through Integrated Bioinformatics Analysis.
Findings suggest that TIMMDC1 may play an important role in human gastric cancer development, and its underlying mechanism is not only associated with mitochondrial complex I inhibition and reduced mitochondrial respiration, but is also associated with reduced glycolysis activity and the AKT/GSK3beta/beta-catenin signaling pathways.
Title: TIMMDC1 Knockdown Inhibits Growth and Metastasis of Gastric Cancer Cells through Metabolic Inhibition and AKT/GSK3β/β-Catenin Signaling Pathway.
Cell-cycle arrest genes such as CCNG2 and PTEN as well as genes involved in cell migration inhibition, such as TIMP3 and COL3A1, were upregulated after C3orf1 depletion in 95D cells.
Title: Depletion of C3orf1/TIMMDC1 inhibits migration and proliferation in 95D lung carcinoma cells.
Quantitative proteomics demonstrated a role for TIMMDC1 in assembly of membrane-embedded and soluble arms of the complex.
Title: TIMMDC1/C3orf1 functions as a membrane-embedded mitochondrial complex I assembly factor through association with the MCIA complex.
Observational study of gene-disease association and gene-environment interaction. (HuGE Navigator)
Title: Single nucleotide polymorphisms of matrix metalloproteinase 9 (MMP9) and tumor protein 73 (TP73) interact with Epstein-Barr virus in chronic lymphocytic leukemia: results from the European case-control study EpiLymph.
Observational study of gene-disease association. (HuGE Navigator)
Title: Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.
Observational study and genome-wide association study of gene-disease association. (HuGE Navigator)
Title: Genome-wide conditional search for epistatic disease-predisposing variants in human association studies.

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Phenotypes

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Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Mitochondrial complex 1 deficiency, nuclear type 31 MedGen: C4748838 OMIM: 618251 GeneReviews: Not available	Compare labs

EBI GWAS Catalog

Description
Genetic risk and a primary role for cell-mediated immune mechanisms in multiple sclerosis. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association analysis of juvenile idiopathic arthritis identifies a new susceptibility locus at chromosomal region 3q13. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association study identifies 12 new susceptibility loci for primary biliary cirrhosis. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association study identifies TNFSF15 and POU2AF1 as susceptibility loci for primary biliary cirrhosis in the Japanese population. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

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Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH47157 (e-PCR)
- UniSTS:69633

G19630 (e-PCR)
- UniSTS:42279

A001T27 (e-PCR)
- UniSTS:42280

D3S2914E (e-PCR)
- UniSTS:150898

RH47148 (e-PCR)
- UniSTS:10360

D3S2834E (e-PCR)
- UniSTS:50574

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in mitochondrial respiratory chain complex I assembly	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in mitochondrial inner membrane	TAS Traceable Author Statement more info
located_in mitochondrion	HTP more info	PubMed
is_active_in mitochondrion	IBA Inferred from Biological aspect of Ancestor more info
located_in mitochondrion	IDA Inferred from Direct Assay more info
located_in nucleoplasm	IDA Inferred from Direct Assay more info

General protein information

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Preferred Names: complex I assembly factor TIMMDC1, mitochondrial

Names: M5-14 protein; TIMM domain containing-protein 1; translocase of inner mitochondrial membrane domain-containing protein 1; transmembrane protein C3orf1

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.