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Aliases for TIMMDC1 Gene

Aliases for TIMMDC1 Gene

  • Translocase Of Inner Mitochondrial Membrane Domain Containing 1 2 3 5
  • Translocase Of Inner Mitochondrial Membrane Domain-Containing Protein 1 3 4
  • TIMM Domain Containing-Protein 1 3 4
  • C3orf1 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 HGNC Symbols for TIMMDC1 Gene

  • C3orf1

Previous GeneCards Identifiers for TIMMDC1 Gene

  • GC03P119218

Summaries for TIMMDC1 Gene

GeneCards Summary for TIMMDC1 Gene

TIMMDC1 (Translocase Of Inner Mitochondrial Membrane Domain Containing 1) is a Protein Coding gene. Among its related pathways are Metabolism and Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins..

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

Regulatory Elements for TIMMDC1 Gene

Enhancers for TIMMDC1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH03F119462 0.2 ENCODE 11.5 -35.1 -35084 2.8 HDGF PKNOX1 CREB3L1 WRNIP1 ZFP64 ARID4B SIN3A DMAP1 YY1 SLC30A9 POGLUT1 MIR198 TIMMDC1 TMEM39A GC03P119428
GH03F119497 0.2 ENCODE 6.7 +0.7 703 3.7 PKNOX1 CREB3L1 WRNIP1 ZFP64 ARID4B SIN3A DMAP1 YY1 ZNF143 CEBPZ POGLUT1 TMEM39A MIR198 CD80 ADPRH POPDC2 MAATS1 TIMMDC1 IGSF11 GC03P119501
GH03F119507 0.7 ENCODE 6.3 +9.7 9735 1.1 PAF1 PKNOX1 L3MBTL2 TAL1 ETV1 DPF2 ARID1B NCOR1 PBX2 IKZF1 POGLUT1 TIMMDC1 GC03P119501 PIR33513 CSRP2P1
GH03F119553 1.3 FANTOM5 Ensembl ENCODE 5.6 +56.9 56856 3.2 CTCF TBP ZNF146 MXI1 WRNIP1 MAX EBF1 RAD21 ZKSCAN1 CTBP1 ADPRH ARHGAP31 CD80 TIMMDC1 POGLUT1 COX17 GC03M119536
GH03F119480 0.4 ENCODE 5.2 -17.2 -17191 1.3 MNT CD80 TIMMDC1 POGLUT1 ENSG00000272662
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

Enhancers around TIMMDC1 on UCSC Golden Path with GeneCards custom track

Promoters for TIMMDC1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00001371685 679 3601 PKNOX1 CREB3L1 MLX WRNIP1 ZFP64 ARID4B SIN3A DMAP1 YY1 ZNF143

Genomic Location for TIMMDC1 Gene

Chromosome:
3
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

Genes around TIMMDC1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
TIMMDC1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for TIMMDC1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence 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

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 & Families for TIMMDC1 Gene

Protein Domains for TIMMDC1 Gene

Suggested Antigen Peptide Sequences for TIMMDC1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q9NPL8

UniProtKB/Swiss-Prot:

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

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

Animal Models for TIMMDC1 Gene

MGI Knock Outs for TIMMDC1:

Animal Model Products

miRNA for TIMMDC1 Gene

miRTarBase miRNAs that target TIMMDC1

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets 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.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for TIMMDC1 Gene COMPARTMENTS Subcellular localization image for TIMMDC1 gene
Compartment Confidence
mitochondrion 5
nucleus 5
extracellular 2
cytosol 1
endoplasmic reticulum 1
peroxisome 1
plasma membrane 1

Gene Ontology (GO) - Cellular Components for TIMMDC1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005654 nucleoplasm IDA --
GO:0005739 mitochondrion IDA --
GO:0005743 mitochondrial inner membrane TAS --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with TIMMDC1: view

Pathways & Interactions for TIMMDC1 Gene

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

Gene Ontology (GO) - Biological Process for TIMMDC1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0032981 mitochondrial respiratory chain complex I assembly TAS --
genes like me logo Genes that share ontologies with TIMMDC1: view

No data available for SIGNOR curated interactions for TIMMDC1 Gene

Transcripts for TIMMDC1 Gene

Unigene Clusters for TIMMDC1 Gene

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

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

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 from GTEx, Illumina, BioGPS, and SAGE for TIMMDC1 Gene

Protein differential expression in normal tissues from HIPED for TIMMDC1 Gene

This gene is overexpressed in Placenta (9.9), Bone (9.4), and Testis (9.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for TIMMDC1 Gene



Protein tissue co-expression partners for TIMMDC1 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of TIMMDC1 Gene:

TIMMDC1

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 expression patterns with TIMMDC1: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA differential expression in normal tissues for TIMMDC1 Gene

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 34 35
  • 99.3 (n)
cow
(Bos Taurus)
Mammalia TIMMDC1 34 35
  • 85.03 (n)
dog
(Canis familiaris)
Mammalia TIMMDC1 34 35
  • 84.23 (n)
rat
(Rattus norvegicus)
Mammalia Timmdc1 34
  • 78.25 (n)
mouse
(Mus musculus)
Mammalia Timmdc1 34 16 35
  • 78.17 (n)
oppossum
(Monodelphis domestica)
Mammalia TIMMDC1 35
  • 50 (a)
OneToOne
chicken
(Gallus gallus)
Aves TIMMDC1 34 35
  • 60.47 (n)
lizard
(Anolis carolinensis)
Reptilia TIMMDC1 35
  • 52 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia Xl.2045 34
zebrafish
(Danio rerio)
Actinopterygii timmdc1 34 35
  • 58.17 (n)
Dr.18369 34
fruit fly
(Drosophila melanogaster)
Insecta 140up 34 35
  • 45.61 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP001426 34
  • 44.89 (n)
Species where no ortholog for TIMMDC1 was found in the sources mined by GeneCards:
  • 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
rs1060569 -- 119,518,040(-) AGAAT(C/T)TTTGT intron-variant
rs111273794 -- 119,517,979(+) GTGAC(-/T)TTTTT intron-variant
rs111537493 -- 119,513,964(+) ACTCA(A/G)TACAA intron-variant
rs111576792 -- 119,511,333(+) AAATA(G/T)TTGTG intron-variant
rs111736112 -- 119,504,153(+) AAAAT(A/G)TATTT intron-variant

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

Variant ID Type Subtype PubMed ID
dgv928e214 CNV loss 21293372
esv3597561 CNV gain 21293372
nsv829695 CNV loss 17160897

Variation tolerance for TIMMDC1 Gene

Residual Variation Intolerance Score: 82.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 5.97; 74.70% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for TIMMDC1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
TIMMDC1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for TIMMDC1 Gene

Disorders for TIMMDC1 Gene

Relevant External Links for TIMMDC1

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
TIMMDC1

No disorders were found for TIMMDC1 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas 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 64
  2. 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 64
  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 64
  4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4 64
  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 64

Products for TIMMDC1 Gene

Sources for TIMMDC1 Gene

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