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Protein

Complex I assembly factor TIMMDC1, mitochondrial

Gene

TIMMDC1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 4 out of 5-Experimental evidence at protein leveli

Functioni

Chaperone protein involved in the assembly of the mitochondrial NADH:ubiquinone oxidoreductase complex (complex I). Participates in constructing the membrane arm of complex I.1 Publication

GO - Biological processi

Complete GO annotation...

Keywords - Molecular functioni

Chaperone

Enzyme and pathway databases

ReactomeiR-HSA-6799198. Complex I biogenesis.

Names & Taxonomyi

Protein namesi
Recommended name:
Complex I assembly factor TIMMDC1, mitochondrial
Alternative name(s):
Protein M5-14
Translocase of inner mitochondrial membrane domain-containing protein 1
Short name:
TIMM domain containing-protein 1
Gene namesi
Name:TIMMDC1
Synonyms:C3orf1
ORF Names:UNQ247/PRO284
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 3

Organism-specific databases

HGNCiHGNC:1321. TIMMDC1.

Subcellular locationi

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Transmembranei80 – 10021HelicalSequence analysisAdd
BLAST
Transmembranei137 – 15923HelicalSequence analysisAdd
BLAST
Transmembranei165 – 18521HelicalSequence analysisAdd
BLAST
Transmembranei189 – 20921HelicalSequence analysisAdd
BLAST

GO - Cellular componenti

Complete GO annotation...

Keywords - Cellular componenti

Membrane, Mitochondrion

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA25900.

Polymorphism and mutation databases

BioMutaiTIMMDC1.
DMDMi116243026.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 285285Complex I assembly factor TIMMDC1, mitochondrialPRO_0000252478Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Modified residuei277 – 2771PhosphoserineCombined sources

Keywords - PTMi

Phosphoprotein

Proteomic databases

EPDiQ9NPL8.
MaxQBiQ9NPL8.
PaxDbiQ9NPL8.
PeptideAtlasiQ9NPL8.
PRIDEiQ9NPL8.

PTM databases

iPTMnetiQ9NPL8.
PhosphoSiteiQ9NPL8.
SwissPalmiQ9NPL8.

Expressioni

Tissue specificityi

Generalized expression enhanced in heart and skeletal muscle.1 Publication

Gene expression databases

BgeeiQ9NPL8.
CleanExiHS_C3orf1.
ExpressionAtlasiQ9NPL8. baseline and differential.
GenevisibleiQ9NPL8. HS.

Organism-specific databases

HPAiHPA053214.
HPA055846.

Interactioni

Subunit structurei

Associates with the intermediate 315 kDa subcomplex of incompletely assembled complex I.1 Publication

Binary interactionsi

WithEntry#Exp.IntActNotes
FATE1Q969F03EBI-6268651,EBI-743099

Protein-protein interaction databases

BioGridi119451. 53 interactions.
IntActiQ9NPL8. 47 interactions.
STRINGi9606.ENSP00000418803.

Structurei

3D structure databases

ProteinModelPortaliQ9NPL8.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Belongs to the Tim17/Tim22/Tim23 family.Curated

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiKOG4608. Eukaryota.
ENOG4111F79. LUCA.
GeneTreeiENSGT00390000013817.
HOVERGENiHBG081001.
InParanoidiQ9NPL8.
OMAiIYHNRFD.
OrthoDBiEOG7ZD1WV.
PhylomeDBiQ9NPL8.
TreeFamiTF324676.

Family and domain databases

InterProiIPR003397. Tim17/Tim22/Tim23/PMP24.
[Graphical view]
PfamiPF02466. Tim17. 1 hit.
[Graphical view]

Sequencei

Sequence statusi: Complete.

Q9NPL8-1 [UniParc]FASTAAdd to basket

« Hide

        10         20         30         40         50
MEVPPPAPRS FLCRALCLFP RVFAAEAVTA DSEVLEERQK RLPYVPEPYY
60 70 80 90 100
PESGWDRLRE LFGKDEQQRI SKDLANICKT AATAGIIGWV YGGIPAFIHA
110 120 130 140 150
KQQYIEQSQA EIYHNRFDAV QSAHRAATRG FIRYGWRWGW RTAVFVTIFN
160 170 180 190 200
TVNTSLNVYR NKDALSHFVI AGAVTGSLFR INVGLRGLVA GGIIGALLGT
210 220 230 240 250
PVGGLLMAFQ KYSGETVQER KQKDRKALHE LKLEEWKGRL QVTEHLPEKI
260 270 280
ESSLQEDEPE NDAKKIEALL NLPRNPSVID KQDKD
Length:285
Mass (Da):32,178
Last modified:October 17, 2006 - v2
Checksum:i5AA6474C3ABCCFA2
GO

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti156 – 1561L → P in CAG33439 (Ref. 5) Curated
Sequence conflicti213 – 2131S → A in AAQ88996 (PubMed:12975309).Curated
Sequence conflicti255 – 2551Q → R in AAQ88996 (PubMed:12975309).Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti76 – 761N → D.1 Publication
Corresponds to variant rs11539377 [ dbSNP | Ensembl ].
VAR_027885
Natural varianti217 – 2171V → I.2 Publications
Corresponds to variant rs57168946 [ dbSNP | Ensembl ].
VAR_061572

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF210057 mRNA. Translation: AAG43510.1.
AL390077 mRNA. Translation: CAB98201.1.
AL390090 mRNA. Translation: CAB98212.1.
AL390094 mRNA. Translation: CAB98251.1.
AF139077 mRNA. Translation: AAF62372.1.
AL136622 mRNA. Translation: CAB66557.1.
AY358633 mRNA. Translation: AAQ88996.1.
CR457158 mRNA. Translation: CAG33439.1.
CR533524 mRNA. Translation: CAG38555.1.
CH471052 Genomic DNA. Translation: EAW79566.1.
CH471052 Genomic DNA. Translation: EAW79568.1.
BC012341 mRNA. Translation: AAH12341.1.
CCDSiCCDS33831.1.
RefSeqiNP_057673.2. NM_016589.3.
UniGeneiHs.477287.

Genome annotation databases

EnsembliENST00000494664; ENSP00000418803; ENSG00000113845.
GeneIDi51300.
KEGGihsa:51300.
UCSCiuc003ecn.4. human.

Keywords - Coding sequence diversityi

Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF210057 mRNA. Translation: AAG43510.1.
AL390077 mRNA. Translation: CAB98201.1.
AL390090 mRNA. Translation: CAB98212.1.
AL390094 mRNA. Translation: CAB98251.1.
AF139077 mRNA. Translation: AAF62372.1.
AL136622 mRNA. Translation: CAB66557.1.
AY358633 mRNA. Translation: AAQ88996.1.
CR457158 mRNA. Translation: CAG33439.1.
CR533524 mRNA. Translation: CAG38555.1.
CH471052 Genomic DNA. Translation: EAW79566.1.
CH471052 Genomic DNA. Translation: EAW79568.1.
BC012341 mRNA. Translation: AAH12341.1.
CCDSiCCDS33831.1.
RefSeqiNP_057673.2. NM_016589.3.
UniGeneiHs.477287.

3D structure databases

ProteinModelPortaliQ9NPL8.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi119451. 53 interactions.
IntActiQ9NPL8. 47 interactions.
STRINGi9606.ENSP00000418803.

PTM databases

iPTMnetiQ9NPL8.
PhosphoSiteiQ9NPL8.
SwissPalmiQ9NPL8.

Polymorphism and mutation databases

BioMutaiTIMMDC1.
DMDMi116243026.

Proteomic databases

EPDiQ9NPL8.
MaxQBiQ9NPL8.
PaxDbiQ9NPL8.
PeptideAtlasiQ9NPL8.
PRIDEiQ9NPL8.

Protocols and materials databases

DNASUi51300.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000494664; ENSP00000418803; ENSG00000113845.
GeneIDi51300.
KEGGihsa:51300.
UCSCiuc003ecn.4. human.

Organism-specific databases

CTDi51300.
GeneCardsiTIMMDC1.
H-InvDBHIX0003585.
HGNCiHGNC:1321. TIMMDC1.
HPAiHPA053214.
HPA055846.
MIMi615534. gene.
neXtProtiNX_Q9NPL8.
PharmGKBiPA25900.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG4608. Eukaryota.
ENOG4111F79. LUCA.
GeneTreeiENSGT00390000013817.
HOVERGENiHBG081001.
InParanoidiQ9NPL8.
OMAiIYHNRFD.
OrthoDBiEOG7ZD1WV.
PhylomeDBiQ9NPL8.
TreeFamiTF324676.

Enzyme and pathway databases

ReactomeiR-HSA-6799198. Complex I biogenesis.

Miscellaneous databases

ChiTaRSiTIMMDC1. human.
GeneWikiiC3orf1.
GenomeRNAii51300.
PROiQ9NPL8.
SOURCEiSearch...

Gene expression databases

BgeeiQ9NPL8.
CleanExiHS_C3orf1.
ExpressionAtlasiQ9NPL8. baseline and differential.
GenevisibleiQ9NPL8. HS.

Family and domain databases

InterProiIPR003397. Tim17/Tim22/Tim23/PMP24.
[Graphical view]
PfamiPF02466. Tim17. 1 hit.
[Graphical view]
ProtoNetiSearch...

Publicationsi

« Hide 'large scale' publications
  1. "Identification and expression analysis of C3orf1, a novel human gene homologous to the Drosophila RP140-upstream gene."
    Escarceller M., Pluvinet R., Sumoy L., Estivill X.
    DNA Seq. 11:335-338(2000) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA], VARIANTS ASP-76 AND ILE-217, TISSUE SPECIFICITY.
  2. "Identification of a novel transcript, M5-14, preferentially expressed in cardiac and skeletal muscle."
    Li D.X., Roberts R.
    Submitted (MAR-1999) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE [MRNA].
  3. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
  4. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
  5. "Cloning of human full open reading frames in Gateway(TM) system entry vector (pDONR201)."
    Ebert L., Schick M., Neubert P., Schatten R., Henze S., Korn B.
    Submitted (JUN-2004) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA], VARIANT ILE-217.
  6. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  7. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
    The MGC Project Team
    Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
    Tissue: B-cell.
  8. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
  9. Cited for: FUNCTION, SUBCELLULAR LOCATION, SUBUNIT.
  10. "An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome."
    Bian Y., Song C., Cheng K., Dong M., Wang F., Huang J., Sun D., Wang L., Ye M., Zou H.
    J. Proteomics 96:253-262(2014) [PubMed] [Europe PMC] [Abstract]
    Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-277, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    Tissue: Liver.
  11. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].

Entry informationi

Entry nameiTIDC1_HUMAN
AccessioniPrimary (citable) accession number: Q9NPL8
Secondary accession number(s): D3DN81
, Q6IAJ7, Q6UWU6, Q9NPR3, Q9NPS5, Q9P0Y6
Entry historyi
Integrated into UniProtKB/Swiss-Prot: October 17, 2006
Last sequence update: October 17, 2006
Last modified: July 6, 2016
This is version 106 of the entry and version 2 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 3
    Human chromosome 3: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.