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Protein

NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 12

Gene

NDUFA12

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-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. 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.1 Publication

Miscellaneous

In NDUFA12-knockout cells, complex I assembly is not affected, probably due to substitution by the NDUFAF2 paralog.1 Publication

GO - Molecular functioni

  • electron carrier activity Source: InterPro
  • NADH dehydrogenase (ubiquinone) activity Source: UniProtKB

GO - Biological processi

  • mitochondrial ATP synthesis coupled electron transport Source: CAFA
  • mitochondrial electron transport, NADH to ubiquinone Source: Reactome
  • mitochondrial respiratory chain complex I assembly Source: Reactome
  • respiratory gaseous exchange Source: UniProtKB
  • response to oxidative stress Source: UniProtKB

Keywordsi

Biological processElectron 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 12
Alternative name(s):
13 kDa differentiation-associated protein
Complex I-B17.2
Short name:
CI-B17.2
Short name:
CIB17.2
NADH-ubiquinone oxidoreductase subunit B17.2
Gene namesi
Name:NDUFA12
Synonyms:DAP13
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 12

Organism-specific databases

EuPathDBiHostDB:ENSG00000184752.12.
HGNCiHGNC:23987. NDUFA12.

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

Keywords - Cellular componenti

Membrane, Mitochondrion, Mitochondrion inner membrane

Pathology & Biotechi

Involvement in diseasei

Leigh syndrome (LS)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn early-onset progressive neurodegenerative disorder characterized by the presence of focal, bilateral lesions in one or more areas of the central nervous system including the brainstem, thalamus, basal ganglia, cerebellum and spinal cord. Clinical features depend on which areas of the central nervous system are involved and include subacute onset of psychomotor retardation, hypotonia, ataxia, weakness, vision loss, eye movement abnormalities, seizures, and dysphagia.
See also OMIM:256000

Keywords - Diseasei

Leigh syndrome, Primary mitochondrial disease

Organism-specific databases

DisGeNETi55967.
MalaCardsiNDUFA12.
MIMi256000. phenotype.
OpenTargetsiENSG00000184752.
PharmGKBiPA142671269.

Chemistry databases

ChEMBLiCHEMBL2363065.
DrugBankiDB00157. NADH.

Polymorphism and mutation databases

BioMutaiNDUFA12.
DMDMi12229870.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00001188451 – 145NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 12Add BLAST145

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei1N-acetylmethionineCombined sources1

Keywords - PTMi

Acetylation

Proteomic databases

EPDiQ9UI09.
PaxDbiQ9UI09.
PeptideAtlasiQ9UI09.
PRIDEiQ9UI09.
TopDownProteomicsiQ9UI09-1. [Q9UI09-1]

PTM databases

iPTMnetiQ9UI09.
PhosphoSitePlusiQ9UI09.

Expressioni

Gene expression databases

BgeeiENSG00000184752.
CleanExiHS_NDUFA12.
ExpressionAtlasiQ9UI09. baseline and differential.
GenevisibleiQ9UI09. HS.

Organism-specific databases

HPAiHPA039903.

Interactioni

Subunit structurei

Complex I is composed of 45 different subunits.2 Publications

Protein-protein interaction databases

BioGridi121013. 88 interactors.
CORUMiQ9UI09.
IntActiQ9UI09. 49 interactors.
MINTiMINT-3080427.
STRINGi9606.ENSP00000330737.

Structurei

Secondary structure

1145
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Helixi3 – 15Combined sources13
Helixi21 – 29Combined sources9
Beta strandi52 – 54Combined sources3
Beta strandi58 – 60Combined sources3
Helixi68 – 70Combined sources3
Beta strandi74 – 76Combined sources3
Helixi84 – 90Combined sources7
Turni98 – 100Combined sources3
Beta strandi118 – 121Combined sources4

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
5XTBelectron microscopy3.40N2-144[»]
5XTDelectron microscopy3.70N2-144[»]
5XTHelectron microscopy3.90N2-144[»]
5XTIelectron microscopy17.40BN/N2-144[»]
ProteinModelPortaliQ9UI09.
SMRiQ9UI09.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Belongs to the complex I NDUFA12 subunit family.Curated

Phylogenomic databases

eggNOGiKOG3382. Eukaryota.
ENOG4111XVR. LUCA.
GeneTreeiENSGT00390000005848.
HOVERGENiHBG024390.
InParanoidiQ9UI09.
KOiK11352.
OMAiWHGWIHH.
OrthoDBiEOG091G0XDC.
PhylomeDBiQ9UI09.
TreeFamiTF106106.

Family and domain databases

InterProiView protein in InterPro
IPR007763. NDUFA12.
PANTHERiPTHR12910. PTHR12910. 1 hit.
PfamiView protein in Pfam
PF05071. NDUFA12. 1 hit.

Sequences (2)i

Sequence statusi: Complete.

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

Isoform 1 (identifier: Q9UI09-1) [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
MELVQVLKRG LQQITGHGGL RGYLRVFFRT NDAKVGTLVG EDKYGNKYYE
60 70 80 90 100
DNKQFFGRHR WVVYTTEMNG KNTFWDVDGS MVPPEWHRWL HSMTDDPPTT
110 120 130 140
KPLTARKFIW TNHKFNVTGT PEQYVPYSTT RKKIQEWIPP STPYK
Length:145
Mass (Da):17,114
Last modified:May 1, 2000 - v1
Checksum:iC76C7F2F5974AFF9
GO
Isoform 2 (identifier: Q9UI09-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     58-145: RHRWVVYTTE...EWIPPSTPYK → IVGFTV

Note: No experimental confirmation available. Gene prediction based on EST data.
Show »
Length:63
Mass (Da):7,173
Checksum:i8624DC4D6A0B0AA1
GO

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_060682104T → A2 PublicationsCorresponds to variant dbSNP:rs17850017Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_04694858 – 145RHRWV…STPYK → IVGFTV in isoform 2. CuratedAdd BLAST88

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF217092 mRNA. Translation: AAF91224.1.
AF112208 mRNA. Translation: AAF17196.1.
BT007220 mRNA. Translation: AAP35884.1.
AC011598 Genomic DNA. No translation available.
AC132009 Genomic DNA. No translation available.
BC005936 mRNA. Translation: AAH05936.1.
CCDSiCCDS58263.1. [Q9UI09-2]
CCDS9050.1. [Q9UI09-1]
RefSeqiNP_001245267.1. NM_001258338.1. [Q9UI09-2]
NP_061326.1. NM_018838.4. [Q9UI09-1]
UniGeneiHs.506374.

Genome annotation databases

EnsembliENST00000327772; ENSP00000330737; ENSG00000184752. [Q9UI09-1]
ENST00000547986; ENSP00000450130; ENSG00000184752. [Q9UI09-2]
GeneIDi55967.
KEGGihsa:55967.
UCSCiuc001tdl.5. human. [Q9UI09-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Entry informationi

Entry nameiNDUAC_HUMAN
AccessioniPrimary (citable) accession number: Q9UI09
Secondary accession number(s): F8VQS7, Q53XX0, Q9BRV6
Entry historyiIntegrated into UniProtKB/Swiss-Prot: December 1, 2000
Last sequence update: May 1, 2000
Last modified: November 22, 2017
This is version 149 of the entry and version 1 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 chromosome 12
    Human chromosome 12: 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. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  6. SIMILARITY comments
    Index of protein domains and families