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Protein

NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 13

Gene

NDUFA13

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

Functioni

Accessory subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I), that is believed not to be involved in catalysis (PubMed:27626371). Complex I functions in the transfer of electrons from NADH to the respiratory chain. The immediate electron acceptor for the enzyme is believed to be ubiquinone (PubMed:27626371). Involved in the interferon/all-trans-retinoic acid (IFN/RA) induced cell death. This apoptotic activity is inhibited by interaction with viral IRF1. Prevents the transactivation of STAT3 target genes. May play a role in CARD15-mediated innate mucosal responses and serve to regulate intestinal epithelial cell responses to microbes (PubMed:15753091).4 Publications

GO - Molecular functioni

  • ATP binding Source: UniProtKB
  • NADH dehydrogenase (ubiquinone) activity Source: UniProtKB
  • NADH dehydrogenase activity Source: UniProtKB

GO - Biological processi

Keywordsi

Biological processApoptosis, Electron transport, Respiratory chain, Transport

Enzyme and pathway databases

ReactomeiR-HSA-611105 Respiratory electron transport
R-HSA-6799198 Complex I biogenesis

Names & Taxonomyi

Protein namesi
Recommended name:
NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 13
Alternative name(s):
Cell death regulatory protein GRIM-19
Complex I-B16.6
Short name:
CI-B16.6
Gene associated with retinoic and interferon-induced mortality 19 protein
Short name:
GRIM-19
Short name:
Gene associated with retinoic and IFN-induced mortality 19 protein
NADH-ubiquinone oxidoreductase B16.6 subunit
Gene namesi
Name:NDUFA13
Synonyms:GRIM19
ORF Names:CDA016, CGI-39
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 19

Organism-specific databases

EuPathDBiHostDB:ENSG00000186010.18
HGNCiHGNC:17194 NDUFA13
MIMi609435 gene
neXtProtiNX_Q9P0J0

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
Transmembranei30 – 51HelicalSequence analysisAdd BLAST22

Keywords - Cellular componenti

Membrane, Mitochondrion, Mitochondrion inner membrane, Nucleus

Pathology & Biotechi

Involvement in diseasei

Hurthle cell thyroid carcinoma (HCTC)1 Publication
Disease susceptibility is associated with variations affecting the gene represented in this entry.
Disease descriptionA rare type of thyroid cancer accounting for only about 3-10% of all differentiated thyroid cancers. These neoplasms are considered a variant of follicular carcinoma of the thyroid and are referred to as follicular carcinoma, oxyphilic type.
See also OMIM:607464
Defects in NDUFA13 are a cause of a mitochondrial complex I deficiency characterized by early onset hypotonia, dyskinesia and sensorial deficiencies, as well as a severe optic neuropathy.1 Publication

Keywords - Diseasei

Disease mutation, Primary mitochondrial disease

Organism-specific databases

DisGeNETi51079
MalaCardsiNDUFA13
MIMi607464 phenotype
OpenTargetsiENSG00000186010
Orphaneti146 Papillary or follicular thyroid carcinoma
PharmGKBiPA142671270

Chemistry databases

ChEMBLiCHEMBL2363065
DrugBankiDB00157 NADH

Polymorphism and mutation databases

BioMutaiNDUFA13
DMDMi20139242

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Initiator methionineiRemovedBy similarity
ChainiPRO_00001188042 – 144NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 13Add BLAST143

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei2N-acetylalanineBy similarity1

Keywords - PTMi

Acetylation

Proteomic databases

EPDiQ9P0J0
MaxQBiQ9P0J0
PaxDbiQ9P0J0
PeptideAtlasiQ9P0J0
PRIDEiQ9P0J0
ProteomicsDBi83552
TopDownProteomicsiQ9P0J0-1 [Q9P0J0-1]

PTM databases

iPTMnetiQ9P0J0
PhosphoSitePlusiQ9P0J0

Expressioni

Tissue specificityi

Widely expressed, with highest expression in heart, skeletal muscle, liver, kidney and placenta. In intestinal mucosa, down-regulated in areas involved in Crohn disease and ulcerative colitis.1 Publication

Developmental stagei

Expressed in numerous fetal tissues.

Inductioni

By IFNB1/IFN-beta combined with all-trans-retinoic acid (ATRA).

Gene expression databases

BgeeiENSG00000186010 Expressed in 224 organ(s), highest expression level in apex of heart
CleanExiHS_NDUFA13
ExpressionAtlasiQ9P0J0 baseline and differential
GenevisibleiQ9P0J0 HS

Organism-specific databases

HPAiHPA041213

Interactioni

Subunit structurei

Complex I is composed of 45 different subunits (PubMed:27626371). Interacts with CARD15, but not with CARD4 (PubMed:12611891, PubMed:15753091). Interacts with STAT3, but not with STAT1, STAT2 and STAT5A (PubMed:12628925, PubMed:12867595). Interacts with OLFM4 (PubMed:15059901).7 Publications
(Microbial infection) Interacts with HHV-8 IRF1, in the nucleus, with HPV-16 E6 and SV40 LT (PubMed:12163600).1 Publication

Binary interactionsi

Protein-protein interaction databases

BioGridi119270, 78 interactors
ComplexPortaliCPX-577 Mitochondrial respiratory chain complex I
CORUMiQ9P0J0
DIPiDIP-31180N
IntActiQ9P0J0, 68 interactors
MINTiQ9P0J0
STRINGi9606.ENSP00000423673

Structurei

3D structure databases

ProteinModelPortaliQ9P0J0
SMRiQ9P0J0
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni102 – 144Important for inducing cell deathAdd BLAST43

Sequence similaritiesi

Belongs to the complex I NDUFA13 subunit family.Curated

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiKOG3300 Eukaryota
ENOG4111KIB LUCA
GeneTreeiENSGT00390000000719
HOGENOMiHOG000206566
HOVERGENiHBG019074
InParanoidiQ9P0J0
KOiK11353
OMAiSGYSMFG
PhylomeDBiQ9P0J0
TreeFamiTF315182

Family and domain databases

InterProiView protein in InterPro
IPR009346 GRIM-19
PANTHERiPTHR12966 PTHR12966, 1 hit
PfamiView protein in Pfam
PF06212 GRIM-19, 1 hit

Sequences (2+)i

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 2 described isoforms and 4 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: Q9P0J0-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide
        10         20         30         40         50
MAASKVKQDM PPPGGYGPID YKRNLPRRGL SGYSMLAIGI GTLIYGHWSI
60 70 80 90 100
MKWNRERRRL QIEDFEARIA LLPLLQAETD RRTLQMLREN LEEEAIIMKD
110 120 130 140
VPDWKVGESV FHTTRWVPPL IGELYGLRTT EEALHASHGF MWYT
Length:144
Mass (Da):16,698
Last modified:January 23, 2007 - v3
Checksum:i058F608B235FF856
GO
Isoform 2 (identifier: Q9P0J0-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     143-144: YT → ALELQPPLAD...AAARGAVRSC

Note: No experimental confirmation available.
Show »
Length:222
Mass (Da):24,882
Checksum:iDE2128E0367CD4D9
GO

Computationally mapped potential isoform sequencesi

There are 4 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
K7EJE1K7EJE1_HUMAN
NADH dehydrogenase [ubiquinone] 1 a...
NDUFA13
150Annotation score:
B4DEZ3B4DEZ3_HUMAN
NADH dehydrogenase [ubiquinone] 1 a...
NDUFA13
120Annotation score:
U3KQP3U3KQP3_HUMAN
NADH dehydrogenase [ubiquinone] 1 a...
NDUFA13
75Annotation score:
K7EP87K7EP87_HUMAN
NADH dehydrogenase [ubiquinone] 1 a...
NDUFA13
107Annotation score:

Sequence cautioni

The sequence AAD27748 differs from that shown. Reason: Erroneous initiation.Curated
The sequence AAG44670 differs from that shown. Reason: Erroneous initiation.Curated
The sequence AAH00589 differs from that shown. Reason: Erroneous initiation.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti2A → P (PubMed:10810093).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_0459845K → N in a Hurthle cell variant of papillary carcinoma sample. 1 PublicationCorresponds to variant dbSNP:rs137852869EnsemblClinVar.1
Natural variantiVAR_07893857R → H Probable disease-associated mutation found in patients with mitochondrial complex I deficiency. 1 PublicationCorresponds to variant dbSNP:rs752513525EnsemblClinVar.1
Natural variantiVAR_045985115R → P in a Hurthle cell variant of papillary carcinoma sample. 1 Publication1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_056644143 – 144YT → ALELQPPLADMGRAELSSNA TTSLVQRRKQAWGRQSWLEQ IWNAGPVCQRLHRGGSRPGA GAAGGLSLWAAAARGAVRSC in isoform 2. 1 Publication2

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF286697 mRNA Translation: AAG28167.1
AF155662 mRNA Translation: AAF67481.1
AF132973 mRNA Translation: AAD27748.1 Different initiation.
AF261134 mRNA Translation: AAG44670.1 Different initiation.
AK293965 mRNA Translation: BAG57337.1
AC011448 Genomic DNA No translation available.
BC000589 mRNA Translation: AAH00589.2 Different initiation.
BC009189 mRNA Translation: AAH09189.1
CCDSiCCDS12404.2 [Q9P0J0-1]
RefSeqiNP_057049.5, NM_015965.6 [Q9P0J0-1]
UniGeneiHs.534453

Genome annotation databases

EnsembliENST00000507754; ENSP00000423673; ENSG00000186010 [Q9P0J0-1]
GeneIDi51079
KEGGihsa:51079
UCSCiuc021uqu.2 human [Q9P0J0-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF286697 mRNA Translation: AAG28167.1
AF155662 mRNA Translation: AAF67481.1
AF132973 mRNA Translation: AAD27748.1 Different initiation.
AF261134 mRNA Translation: AAG44670.1 Different initiation.
AK293965 mRNA Translation: BAG57337.1
AC011448 Genomic DNA No translation available.
BC000589 mRNA Translation: AAH00589.2 Different initiation.
BC009189 mRNA Translation: AAH09189.1
CCDSiCCDS12404.2 [Q9P0J0-1]
RefSeqiNP_057049.5, NM_015965.6 [Q9P0J0-1]
UniGeneiHs.534453

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
5XTBelectron microscopy3.40W7-28[»]
5XTCelectron microscopy3.70W29-144[»]
5XTDelectron microscopy3.70W7-144[»]
5XTHelectron microscopy3.90W7-144[»]
5XTIelectron microscopy17.40BW/W7-144[»]
ProteinModelPortaliQ9P0J0
SMRiQ9P0J0
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi119270, 78 interactors
ComplexPortaliCPX-577 Mitochondrial respiratory chain complex I
CORUMiQ9P0J0
DIPiDIP-31180N
IntActiQ9P0J0, 68 interactors
MINTiQ9P0J0
STRINGi9606.ENSP00000423673

Chemistry databases

ChEMBLiCHEMBL2363065
DrugBankiDB00157 NADH

PTM databases

iPTMnetiQ9P0J0
PhosphoSitePlusiQ9P0J0

Polymorphism and mutation databases

BioMutaiNDUFA13
DMDMi20139242

Proteomic databases

EPDiQ9P0J0
MaxQBiQ9P0J0
PaxDbiQ9P0J0
PeptideAtlasiQ9P0J0
PRIDEiQ9P0J0
ProteomicsDBi83552
TopDownProteomicsiQ9P0J0-1 [Q9P0J0-1]

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000507754; ENSP00000423673; ENSG00000186010 [Q9P0J0-1]
GeneIDi51079
KEGGihsa:51079
UCSCiuc021uqu.2 human [Q9P0J0-1]

Organism-specific databases

CTDi51079
DisGeNETi51079
EuPathDBiHostDB:ENSG00000186010.18
GeneCardsiNDUFA13
H-InvDBiHIX0213010
HGNCiHGNC:17194 NDUFA13
HPAiHPA041213
MalaCardsiNDUFA13
MIMi607464 phenotype
609435 gene
neXtProtiNX_Q9P0J0
OpenTargetsiENSG00000186010
Orphaneti146 Papillary or follicular thyroid carcinoma
PharmGKBiPA142671270
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG3300 Eukaryota
ENOG4111KIB LUCA
GeneTreeiENSGT00390000000719
HOGENOMiHOG000206566
HOVERGENiHBG019074
InParanoidiQ9P0J0
KOiK11353
OMAiSGYSMFG
PhylomeDBiQ9P0J0
TreeFamiTF315182

Enzyme and pathway databases

ReactomeiR-HSA-611105 Respiratory electron transport
R-HSA-6799198 Complex I biogenesis

Miscellaneous databases

ChiTaRSiNDUFA13 human
GeneWikiiNDUFA13
GenomeRNAii51079
PROiPR:Q9P0J0
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000186010 Expressed in 224 organ(s), highest expression level in apex of heart
CleanExiHS_NDUFA13
ExpressionAtlasiQ9P0J0 baseline and differential
GenevisibleiQ9P0J0 HS

Family and domain databases

InterProiView protein in InterPro
IPR009346 GRIM-19
PANTHERiPTHR12966 PTHR12966, 1 hit
PfamiView protein in Pfam
PF06212 GRIM-19, 1 hit
ProtoNetiSearch...

Entry informationi

Entry nameiNDUAD_HUMAN
AccessioniPrimary (citable) accession number: Q9P0J0
Secondary accession number(s): B4DF76
, K7EK58, Q6PKI0, Q9H2L3, Q9Y327
Entry historyiIntegrated into UniProtKB/Swiss-Prot: March 27, 2002
Last sequence update: January 23, 2007
Last modified: October 10, 2018
This is version 175 of the entry and version 3 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

3D-structure, Complete proteome, Reference proteome

Documents

  1. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  2. SIMILARITY comments
    Index of protein domains and families
  3. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  4. Human chromosome 19
    Human chromosome 19: entries, gene names and cross-references to MIM
  5. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  6. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
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