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Entry version 127 (31 Jul 2019)
Sequence version 2 (17 Oct 2006)
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Protein

Complex I assembly factor TIMMDC1, mitochondrial

Gene

TIMMDC1

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

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the ‘protein existence’ evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>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

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Biological processi

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

Molecular functionChaperone

Enzyme and pathway databases

Reactome - a knowledgebase of biological pathways and processes

More...
Reactomei
R-HSA-6799198 Complex I biogenesis

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>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
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: ‘Name’, ‘Synonyms’, ‘Ordered locus names’ and ‘ORF names’.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:TIMMDC1
Synonyms:C3orf1
ORF Names:UNQ247/PRO284
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the ‘taxonomic identifier’ or ‘taxid’.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes_manual">proteome</a> can consist of several components. <br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 3

Organism-specific databases

Human Gene Nomenclature Database

More...
HGNCi
HGNC:1321 TIMMDC1

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
615534 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q9NPL8

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>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 & Seán O’Donoghue; Source: COMPARTMENTS

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular_location_section">'Subcellular location'</a> section describes the extent of a membrane-spanning region of the protein. It denotes the presence of both alpha-helical transmembrane regions and the membrane spanning regions of beta-barrel transmembrane proteins.<p><a href='/help/transmem' target='_top'>More...</a></p>Transmembranei80 – 100HelicalSequence analysisAdd BLAST21
Transmembranei137 – 159HelicalSequence analysisAdd BLAST23
Transmembranei165 – 185HelicalSequence analysisAdd BLAST21
Transmembranei189 – 209HelicalSequence analysisAdd BLAST21

Keywords - Cellular componenti

Membrane, Mitochondrion

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the ‘Pathology and Biotech’ section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>Involvement in diseasei

Mitochondrial complex I deficiency, nuclear type 31 (MC1DN31)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA form of mitochondrial complex I deficiency, the most common biochemical signature of mitochondrial disorders, a group of highly heterogeneous conditions characterized by defective oxidative phosphorylation, which collectively affects 1 in 5-10000 live births. Clinical disorders have variable severity, ranging from lethal neonatal disease to adult-onset neurodegenerative disorders. Phenotypes include macrocephaly with progressive leukodystrophy, non-specific encephalopathy, cardiomyopathy, myopathy, liver disease, Leigh syndrome, Leber hereditary optic neuropathy, and some forms of Parkinson disease. MC1DN31 transmission pattern is consistent with autosomal recessive inheritance.
Related information in OMIM

Keywords - Diseasei

Primary mitochondrial disease

Organism-specific databases

DisGeNET

More...
DisGeNETi
51300

MalaCards human disease database

More...
MalaCardsi
TIMMDC1
MIMi618251 phenotype

Open Targets

More...
OpenTargetsi
ENSG00000113845

Orphanet; a database dedicated to information on rare diseases and orphan drugs

More...
Orphaneti
2609 Isolated complex I deficiency

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA25900

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
TIMMDC1

Domain mapping of disease mutations (DMDM)

More...
DMDMi
116243026

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section describes the extent of a polypeptide chain in the mature protein following processing.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00002524781 – 285Complex I assembly factor TIMMDC1, mitochondrialAdd BLAST285

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>Modified residuei277PhosphoserineCombined sources1

Keywords - PTMi

Phosphoprotein

Proteomic databases

Encyclopedia of Proteome Dynamics

More...
EPDi
Q9NPL8

jPOST - Japan Proteome Standard Repository/Database

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jPOSTi
Q9NPL8

MaxQB - The MaxQuant DataBase

More...
MaxQBi
Q9NPL8

PaxDb, a database of protein abundance averages across all three domains of life

More...
PaxDbi
Q9NPL8

PeptideAtlas

More...
PeptideAtlasi
Q9NPL8

PRoteomics IDEntifications database

More...
PRIDEi
Q9NPL8

ProteomicsDB human proteome resource

More...
ProteomicsDBi
82035

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
Q9NPL8

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

More...
PhosphoSitePlusi
Q9NPL8

SwissPalm database of S-palmitoylation events

More...
SwissPalmi
Q9NPL8

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

<p>This subsection of the ‘Expression’ section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified ‘at protein level’. <br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>Tissue specificityi

Generalized expression enhanced in heart and skeletal muscle.1 Publication

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000113845 Expressed in 200 organ(s), highest expression level in left ventricle myocardium

ExpressionAtlas, Differential and Baseline Expression

More...
ExpressionAtlasi
Q9NPL8 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...
Genevisiblei
Q9NPL8 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
HPA053214
HPA055846

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction_section">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function_section">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

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

1 Publication

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction_section%27">Interaction</a> section provides information about binary protein-protein interactions. The data presented in this section are a quality-filtered subset of binary interactions automatically derived from the <a href="http://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated on a monthly basis. Each binary interaction is displayed on a separate line.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

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

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

More...
BioGridi
119451, 61 interactors

Protein interaction database and analysis system

More...
IntActi
Q9NPL8, 98 interactors

Molecular INTeraction database

More...
MINTi
Q9NPL8

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000418803

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

<p>This subsection of the ‘Family and domains’ section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Belongs to the Tim17/Tim22/Tim23 family.Curated

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
KOG4608 Eukaryota
ENOG4111F79 LUCA

Ensembl GeneTree

More...
GeneTreei
ENSGT00390000013817

InParanoid: Eukaryotic Ortholog Groups

More...
InParanoidi
Q9NPL8

Identification of Orthologs from Complete Genome Data

More...
OMAi
WRTAVFV

Database of Orthologous Groups

More...
OrthoDBi
1366254at2759

Database for complete collections of gene phylogenies

More...
PhylomeDBi
Q9NPL8

TreeFam database of animal gene trees

More...
TreeFami
TF324676

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequence (1+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>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
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> Checksum:i5AA6474C3ABCCFA2
GO

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>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:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
C9JR82C9JR82_HUMAN
Complex I assembly factor TIMMDC1, ...
TIMMDC1
150Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
G3XA94G3XA94_HUMAN
Chromosome 3 open reading frame 1, ...
TIMMDC1 C3orf1, hCG_1780137
175Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
F8WAU6F8WAU6_HUMAN
Complex I assembly factor TIMMDC1, ...
TIMMDC1
65Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
F8WB00F8WB00_HUMAN
Complex I assembly factor TIMMDC1, ...
TIMMDC1
71Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
F8WC42F8WC42_HUMAN
Complex I assembly factor TIMMDC1, ...
TIMMDC1
90Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
H7C5U1H7C5U1_HUMAN
Complex I assembly factor TIMMDC1, ...
TIMMDC1
38Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>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
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>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:

EMBL nucleotide sequence database

More...
EMBLi

GenBank nucleotide sequence database

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GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...
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

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS33831.1

NCBI Reference Sequences

More...
RefSeqi
NP_057673.2, NM_016589.3

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000494664; ENSP00000418803; ENSG00000113845

Database of genes from NCBI RefSeq genomes

More...
GeneIDi
51300

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...
KEGGi
hsa:51300

UCSC genome browser

More...
UCSCi
uc003ecn.4 human

Keywords - Coding sequence diversityi

Polymorphism

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>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

3D structure databases

Database of comparative protein structure models

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ModBasei
Search...

SWISS-MODEL Interactive Workspace

More...
SWISS-MODEL-Workspacei
Submit a new modelling project...

Protein-protein interaction databases

BioGridi119451, 61 interactors
IntActiQ9NPL8, 98 interactors
MINTiQ9NPL8
STRINGi9606.ENSP00000418803

PTM databases

iPTMnetiQ9NPL8
PhosphoSitePlusiQ9NPL8
SwissPalmiQ9NPL8

Polymorphism and mutation databases

BioMutaiTIMMDC1
DMDMi116243026

Proteomic databases

EPDiQ9NPL8
jPOSTiQ9NPL8
MaxQBiQ9NPL8
PaxDbiQ9NPL8
PeptideAtlasiQ9NPL8
PRIDEiQ9NPL8
ProteomicsDBi82035

Protocols and materials databases

The DNASU plasmid repository

More...
DNASUi
51300
Structural Biology KnowledgebaseSearch...

Genome annotation databases

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

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
51300
DisGeNETi51300

GeneCards: human genes, protein and diseases

More...
GeneCardsi
TIMMDC1
HGNCiHGNC:1321 TIMMDC1
HPAiHPA053214
HPA055846
MalaCardsiTIMMDC1
MIMi615534 gene
618251 phenotype
neXtProtiNX_Q9NPL8
OpenTargetsiENSG00000113845
Orphaneti2609 Isolated complex I deficiency
PharmGKBiPA25900

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG4608 Eukaryota
ENOG4111F79 LUCA
GeneTreeiENSGT00390000013817
InParanoidiQ9NPL8
OMAiWRTAVFV
OrthoDBi1366254at2759
PhylomeDBiQ9NPL8
TreeFamiTF324676

Enzyme and pathway databases

ReactomeiR-HSA-6799198 Complex I biogenesis

Miscellaneous databases

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

More...
ChiTaRSi
TIMMDC1 human

The Gene Wiki collection of pages on human genes and proteins

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GeneWikii
C3orf1

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

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GenomeRNAii
51300

Protein Ontology

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PROi
PR:Q9NPL8

The Stanford Online Universal Resource for Clones and ESTs

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SOURCEi
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Gene expression databases

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

Family and domain databases

ProtoNet; Automatic hierarchical classification of proteins

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ProtoNeti
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MobiDB: a database of protein disorder and mobility annotations

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MobiDBi
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<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the ‘Entry information’ section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiTIDC1_HUMAN
<p>This subsection of the ‘Entry information’ section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called ‘Primary (citable) accession number’.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: Q9NPL8
Secondary accession number(s): D3DN81
, Q6IAJ7, Q6UWU6, Q9NPR3, Q9NPS5, Q9P0Y6
<p>This subsection of the ‘Entry information’ section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification (‘Last modified’). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: October 17, 2006
Last sequence update: October 17, 2006
Last modified: July 31, 2019
This is version 127 of the entry and version 2 of the sequence. See complete history.
<p>This subsection of the ‘Entry information’ section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>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.

<p>This section contains any relevant information that doesn’t fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>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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