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Protein

Complex I assembly factor TIMMDC1, mitochondrial

Gene

TIMMDC1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -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

Keywordsi

Molecular functionChaperone

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

EuPathDBiHostDB:ENSG00000113845.9
HGNCiHGNC:1321 TIMMDC1
MIMi615534 gene
neXtProtiNX_Q9NPL8

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Transmembranei80 – 100HelicalSequence analysisAdd BLAST21
Transmembranei137 – 159HelicalSequence analysisAdd BLAST23
Transmembranei165 – 185HelicalSequence analysisAdd BLAST21
Transmembranei189 – 209HelicalSequence analysisAdd BLAST21

Keywords - Cellular componenti

Membrane, Mitochondrion

Pathology & Biotechi

Organism-specific databases

DisGeNETi51300
MalaCardsiTIMMDC1
OpenTargetsiENSG00000113845
PharmGKBiPA25900

Polymorphism and mutation databases

BioMutaiTIMMDC1
DMDMi116243026

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00002524781 – 285Complex I assembly factor TIMMDC1, mitochondrialAdd BLAST285

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei277PhosphoserineCombined sources1

Keywords - PTMi

Phosphoprotein

Proteomic databases

EPDiQ9NPL8
MaxQBiQ9NPL8
PaxDbiQ9NPL8
PeptideAtlasiQ9NPL8
PRIDEiQ9NPL8
ProteomicsDBi82035

PTM databases

iPTMnetiQ9NPL8
PhosphoSitePlusiQ9NPL8
SwissPalmiQ9NPL8

Expressioni

Tissue specificityi

Generalized expression enhanced in heart and skeletal muscle.1 Publication

Gene expression databases

BgeeiENSG00000113845 Expressed in 200 organ(s), highest expression level in left ventricle myocardium
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, 59 interactors
IntActiQ9NPL8, 96 interactors
MINTiQ9NPL8
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
OMAiWRTAVFV
OrthoDBiEOG091G0PD2
PhylomeDBiQ9NPL8
TreeFamiTF324676

Sequence (1+)i

Sequence statusi: Complete.

This entry has 1 described isoform and 7 potential isoforms that are computationally mapped.Show allAlign All

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

Computationally mapped potential isoform sequencesi

There are 7 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
C9JU35C9JU35_HUMAN
Complex I assembly factor TIMMDC1, ...
TIMMDC1
151Annotation score:
C9JR82C9JR82_HUMAN
Complex I assembly factor TIMMDC1, ...
TIMMDC1
150Annotation score:
G3XA94G3XA94_HUMAN
Chromosome 3 open reading frame 1, ...
TIMMDC1 C3orf1, hCG_1780137
175Annotation score:
F8WB00F8WB00_HUMAN
Complex I assembly factor TIMMDC1, ...
TIMMDC1
71Annotation score:
F8WAU6F8WAU6_HUMAN
Complex I assembly factor TIMMDC1, ...
TIMMDC1
65Annotation score:
F8WC42F8WC42_HUMAN
Complex I assembly factor TIMMDC1, ...
TIMMDC1
90Annotation score:
H7C5U1H7C5U1_HUMAN
Complex I assembly factor TIMMDC1, ...
TIMMDC1
38Annotation score:

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti156L → P in CAG33439 (Ref. 5) Curated1
Sequence conflicti213S → A in AAQ88996 (PubMed:12975309).Curated1
Sequence conflicti255Q → R in AAQ88996 (PubMed:12975309).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_02788576N → D1 PublicationCorresponds to variant dbSNP:rs11539377Ensembl.1
Natural variantiVAR_061572217V → I2 PublicationsCorresponds to variant dbSNP:rs57168946Ensembl.1

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

Similar proteinsi

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, 59 interactors
IntActiQ9NPL8, 96 interactors
MINTiQ9NPL8
STRINGi9606.ENSP00000418803

PTM databases

iPTMnetiQ9NPL8
PhosphoSitePlusiQ9NPL8
SwissPalmiQ9NPL8

Polymorphism and mutation databases

BioMutaiTIMMDC1
DMDMi116243026

Proteomic databases

EPDiQ9NPL8
MaxQBiQ9NPL8
PaxDbiQ9NPL8
PeptideAtlasiQ9NPL8
PRIDEiQ9NPL8
ProteomicsDBi82035

Protocols and materials databases

DNASUi51300
Structural Biology KnowledgebaseSearch...

Genome annotation databases

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

Organism-specific databases

CTDi51300
DisGeNETi51300
EuPathDBiHostDB:ENSG00000113845.9
GeneCardsiTIMMDC1
H-InvDBiHIX0003585
HGNCiHGNC:1321 TIMMDC1
HPAiHPA053214
HPA055846
MalaCardsiTIMMDC1
MIMi615534 gene
neXtProtiNX_Q9NPL8
OpenTargetsiENSG00000113845
PharmGKBiPA25900
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG4608 Eukaryota
ENOG4111F79 LUCA
GeneTreeiENSGT00390000013817
HOVERGENiHBG081001
InParanoidiQ9NPL8
OMAiWRTAVFV
OrthoDBiEOG091G0PD2
PhylomeDBiQ9NPL8
TreeFamiTF324676

Enzyme and pathway databases

ReactomeiR-HSA-6799198 Complex I biogenesis

Miscellaneous databases

ChiTaRSiTIMMDC1 human
GeneWikiiC3orf1
GenomeRNAii51300
PROiPR:Q9NPL8
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000113845 Expressed in 200 organ(s), highest expression level in left ventricle myocardium
CleanExiHS_C3orf1
ExpressionAtlasiQ9NPL8 baseline and differential
GenevisibleiQ9NPL8 HS

Family and domain databases

ProtoNetiSearch...

Entry informationi

Entry nameiTIDC1_HUMAN
AccessioniPrimary (citable) accession number: Q9NPL8
Secondary accession number(s): D3DN81
, Q6IAJ7, Q6UWU6, Q9NPR3, Q9NPS5, Q9P0Y6
Entry historyiIntegrated into UniProtKB/Swiss-Prot: October 17, 2006
Last sequence update: October 17, 2006
Last modified: November 7, 2018
This is version 122 of the entry and version 2 of the sequence. See 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. SIMILARITY comments
    Index of protein domains and families
  2. Human chromosome 3
    Human chromosome 3: entries, gene names and cross-references to MIM
  3. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  4. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  5. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
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Main funding by: National Institutes of Health

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