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Aliases for TIMMDC1 Gene

Aliases for TIMMDC1 Gene

  • Translocase Of Inner Mitochondrial Membrane Domain Containing 1 2 3
  • C3orf1 3 4 6
  • Translocase Of Inner Mitochondrial Membrane Domain-Containing Protein 1 3 4
  • TIMM Domain Containing-Protein 1 3 4
  • Complex I Assembly Factor TIMMDC1, Mitochondrial 3
  • Chromosome 3 Open Reading Frame 1 2
  • Transmembrane Protein C3orf1 3
  • M5-14 Protein 3
  • Protein M5-14 4

External Ids for TIMMDC1 Gene

Previous Symbols for TIMMDC1 Gene

  • C3orf1

Summaries for TIMMDC1 Gene

GeneCards Summary for TIMMDC1 Gene

TIMMDC1 (Translocase Of Inner Mitochondrial Membrane Domain Containing 1) is a Protein Coding gene. Diseases associated with TIMMDC1 include primary biliary cirrhosis.

UniProtKB/Swiss-Prot for TIMMDC1 Gene

  • Chaperone protein involved in the assembly of the mitochondrial NADH:ubiquinone oxidoreductase complex (complex I). Participates in constructing the membrane arm of complex I.

Gene Wiki entry for TIMMDC1 Gene

No data available for Entrez Gene Summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for TIMMDC1 Gene

Genomics for TIMMDC1 Gene

Genomic Location for TIMMDC1 Gene

Start:
119,498,521 bp from pter
End:
119,525,090 bp from pter
Size:
26,570 bases
Orientation:
Plus strand

Genomic View for TIMMDC1 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for TIMMDC1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for TIMMDC1 Gene

No data available for Regulatory Elements for TIMMDC1 Gene

Proteins for TIMMDC1 Gene

  • Protein details for TIMMDC1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9NPL8-TIDC1_HUMAN
    Recommended name:
    Complex I assembly factor TIMMDC1, mitochondrial
    Protein Accession:
    Q9NPL8
    Secondary Accessions:
    • D3DN81
    • Q6IAJ7
    • Q6UWU6
    • Q9NPR3
    • Q9NPS5
    • Q9P0Y6

    Protein attributes for TIMMDC1 Gene

    Size:
    285 amino acids
    Molecular mass:
    32178 Da
    Quaternary structure:
    • Associates with the intermediate 315 kDa subcomplex of incompletely assembled complex I.

neXtProt entry for TIMMDC1 Gene

Proteomics data for TIMMDC1 Gene at MOPED

Post-translational modifications for TIMMDC1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for TIMMDC1 Gene

Domains for TIMMDC1 Gene

Protein Domains for TIMMDC1 Gene

UniProtKB/Swiss-Prot:

TIDC1_HUMAN
Family:
  • Belongs to the Tim17/Tim22/Tim23 family.:
    • Q9NPL8
genes like me logo Genes that share domains with TIMMDC1: view

No data available for Gene Families for TIMMDC1 Gene

Function for TIMMDC1 Gene

Molecular function for TIMMDC1 Gene

UniProtKB/Swiss-Prot Function: Chaperone protein involved in the assembly of the mitochondrial NADH:ubiquinone oxidoreductase complex (complex I). Participates in constructing the membrane arm of complex I.

Gene Ontology (GO) - Molecular Function for TIMMDC1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 25416956
genes like me logo Genes that share ontologies with TIMMDC1: view

Phenotypes for TIMMDC1 Gene

genes like me logo Genes that share phenotypes with TIMMDC1: view

miRNA for TIMMDC1 Gene

miRTarBase miRNAs that target TIMMDC1

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targeting and HOMER Transcription for TIMMDC1 Gene

Localization for TIMMDC1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for TIMMDC1 Gene

Mitochondrion membrane; Multi-pass membrane protein.

Gene Ontology (GO) - Cellular Components for TIMMDC1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus --
GO:0005654 nucleoplasm IDA --
GO:0005739 mitochondrion IDA --
GO:0016021 integral component of membrane IEA --
GO:0031966 mitochondrial membrane IEA --
genes like me logo Genes that share ontologies with TIMMDC1: view

Pathways for TIMMDC1 Gene

SuperPathways for TIMMDC1 Gene

No Data Available

Gene Ontology (GO) - Biological Process for TIMMDC1 Gene

None

No data available for Pathways by source for TIMMDC1 Gene

Transcripts for TIMMDC1 Gene

Unigene Clusters for TIMMDC1 Gene

Translocase of inner mitochondrial membrane domain containing 1:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for TIMMDC1 Gene

ExUns: 1a · 1b · 1c · 1d · 1e · 1f · 1g · 1h ^ 2a · 2b ^ 3 ^ 4 ^ 5a · 5b ^ 6 ^ 7a · 7b · 7c
SP1: - -
SP2: -
SP3: - - - -
SP4: - - -
SP5: - - - -
SP6: - - - - -
SP7: - - - - - - -
SP8: - - - - -
SP9: - - - - - - -
SP10: - - - -
SP11: -

Relevant External Links for TIMMDC1 Gene

GeneLoc Exon Structure for
TIMMDC1
ECgene alternative splicing isoforms for
TIMMDC1

Expression for TIMMDC1 Gene

mRNA expression in normal human tissues for TIMMDC1 Gene

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for TIMMDC1 Gene

SOURCE GeneReport for Unigene cluster for TIMMDC1 Gene Hs.477287

mRNA Expression by UniProt/SwissProt for TIMMDC1 Gene

Q9NPL8-TIDC1_HUMAN
Tissue specificity: Generalized expression enhanced in heart and skeletal muscle.
genes like me logo Genes that share expressions with TIMMDC1: view

Orthologs for TIMMDC1 Gene

This gene was present in the common ancestor of animals.

Orthologs for TIMMDC1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia TIMMDC1 36
  • 99.3 (n)
  • 98.95 (a)
TIMMDC1 37
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia TIMMDC1 36
  • 85.03 (n)
  • 78.6 (a)
TIMMDC1 37
  • 73 (a)
OneToOne
dog
(Canis familiaris)
Mammalia TIMMDC1 36
  • 84.23 (n)
  • 77.78 (a)
TIMMDC1 37
  • 78 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Timmdc1 36
  • 78.17 (n)
  • 71.48 (a)
Timmdc1 16
Timmdc1 37
  • 71 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia TIMMDC1 37
  • 50 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Timmdc1 36
  • 78.25 (n)
  • 72.63 (a)
chicken
(Gallus gallus)
Aves TIMMDC1 36
  • 60.47 (n)
  • 52.56 (a)
TIMMDC1 37
  • 46 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia TIMMDC1 37
  • 52 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia Xl.2045 36
zebrafish
(Danio rerio)
Actinopterygii Dr.18369 36
timmdc1 36
  • 58.17 (n)
  • 49.8 (a)
timmdc1 37
  • 41 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP001426 36
  • 44.89 (n)
  • 32.95 (a)
fruit fly
(Drosophila melanogaster)
Insecta 140up 36
  • 45.61 (n)
  • 31.36 (a)
140up 37
  • 28 (a)
OneToOne
Species with no ortholog for TIMMDC1:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for TIMMDC1 Gene

ENSEMBL:
Gene Tree for TIMMDC1 (if available)
TreeFam:
Gene Tree for TIMMDC1 (if available)

Paralogs for TIMMDC1 Gene

No data available for Paralogs for TIMMDC1 Gene

Variants for TIMMDC1 Gene

Sequence variations from dbSNP and Humsavar for TIMMDC1 Gene

SNP ID Clin Chr 03 pos Sequence Context AA Info Type MAF
rs1060569 -- 119,518,040(-) AGAAT(C/T)TTTGT intron-variant
rs1131265 -- 119,503,609(+) TTTGT(C/G)ACTAT synonymous-codon, reference
rs1405012 -- 119,506,948(+) AAGTC(C/T)AGATC intron-variant
rs1961132 -- 119,509,122(-) ttcac(A/G)ccatt intron-variant
rs1967621 -- 119,506,235(+) AATGT(C/G)AAAAC intron-variant

Structural Variations from Database of Genomic Variants (DGV) for TIMMDC1 Gene

Variant ID Type Subtype PubMed ID
nsv829695 CNV Loss 17160897

Relevant External Links for TIMMDC1 Gene

HapMap Linkage Disequilibrium report
TIMMDC1

Disorders for TIMMDC1 Gene

(1) MalaCards Diseases for TIMMDC1 Gene

Search for TIMMDC1 Gene in MalaCards »
genes like me logo Genes that share disorders with TIMMDC1: view

No data available for UniProtKB/Swiss-Prot for TIMMDC1 Gene

Publications for TIMMDC1 Gene

  1. Identification and expression analysis of C3orf1, a novel human gene homologous to the Drosophila RP140-upstream gene. (PMID: 11092749) Escarceller M. … Estivill X. (DNA Seq. 2000) 2 3 4
  2. Towards a catalog of human genes and proteins: sequencing and analysis of 500 novel complete protein coding human cDNAs. (PMID: 11230166) Wiemann S. … Poustka A. (Genome Res. 2001) 3 4
  3. Assembly factors for the membrane arm of human complex I. (PMID: 24191001) Andrews B. … Walker J.E. (Proc. Natl. Acad. Sci. U.S.A. 2013) 3 4
  4. TIMMDC1/C3orf1 functions as a membrane-embedded mitochondrial complex I assembly factor through association with the MCIA complex. (PMID: 24344204) Guarani V. … Harper J.W. (Mol. Cell. Biol. 2014) 2 3
  5. The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment. (PMID: 12975309) Clark H.F. … Gray A.M. (Genome Res. 2003) 3 4

Products for TIMMDC1 Gene

Sources for TIMMDC1 Gene

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