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Q9UI09

- NDUAC_HUMAN

UniProt

Q9UI09 - NDUAC_HUMAN

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Protein

NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 12

Gene

NDUFA12

Organism
Homo sapiens (Human)
Status
Reviewed - 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.

GO - Molecular functioni

  1. electron carrier activity Source: InterPro
  2. NADH dehydrogenase (ubiquinone) activity Source: UniProtKB

GO - Biological processi

  1. cellular metabolic process Source: Reactome
  2. respiratory electron transport chain Source: Reactome
  3. respiratory gaseous exchange Source: UniProtKB
  4. response to oxidative stress Source: UniProtKB
  5. small molecule metabolic process Source: Reactome
Complete GO annotation...

Keywords - Biological processi

Electron transport, Respiratory chain, Transport

Enzyme and pathway databases

ReactomeiREACT_22393. Respiratory electron transport.

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
ProteomesiUP000005640: Chromosome 12

Organism-specific databases

HGNCiHGNC:23987. NDUFA12.

Subcellular locationi

GO - Cellular componenti

  1. cytoplasm Source: HPA
  2. mitochondrial inner membrane Source: Reactome
  3. mitochondrial respiratory chain complex I Source: UniProtKB
  4. mitochondrion Source: HPA
Complete GO annotation...

Keywords - Cellular componenti

Membrane, Mitochondrion, Mitochondrion inner membrane

Pathology & Biotechi

Involvement in diseasei

Leigh syndrome (LS) [MIM:256000]: An 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.1 Publication
Note: The disease is caused by mutations affecting the gene represented in this entry.

Keywords - Diseasei

Leigh syndrome

Organism-specific databases

MIMi256000. phenotype.
PharmGKBiPA142671269.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 145145NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 12PRO_0000118845Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Modified residuei1 – 11N-acetylmethionine1 Publication

Keywords - PTMi

Acetylation

Proteomic databases

MaxQBiQ9UI09.
PaxDbiQ9UI09.
PRIDEiQ9UI09.

PTM databases

PhosphoSiteiQ9UI09.

Expressioni

Gene expression databases

BgeeiQ9UI09.
CleanExiHS_NDUFA12.
ExpressionAtlasiQ9UI09. baseline and differential.
GenevestigatoriQ9UI09.

Organism-specific databases

HPAiHPA039903.

Interactioni

Subunit structurei

Complex I is composed of 45 different subunits.1 Publication

Protein-protein interaction databases

BioGridi121013. 22 interactions.
IntActiQ9UI09. 3 interactions.
MINTiMINT-3080427.
STRINGi9606.ENSP00000330737.

Structurei

3D structure databases

ProteinModelPortaliQ9UI09.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Belongs to the complex I NDUFA12 subunit family.Curated

Phylogenomic databases

eggNOGiNOG146832.
GeneTreeiENSGT00390000005848.
HOVERGENiHBG024390.
InParanoidiQ9UI09.
KOiK11352.
OMAiFYGRNRW.
PhylomeDBiQ9UI09.
TreeFamiTF106106.

Family and domain databases

InterProiIPR007763. NDUFA12.
[Graphical view]
PANTHERiPTHR12910. PTHR12910. 1 hit.

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. Align

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)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti104 – 1041T → A.2 Publications
Corresponds to variant rs17850017 [ dbSNP | Ensembl ].
VAR_060682

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei58 – 14588RHRWV…STPYK → IVGFTV in isoform 2. CuratedVSP_046948Add
BLAST

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.4. human. [Q9UI09-1]

Polymorphism databases

DMDMi12229870.

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

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 .
CCDSi CCDS58263.1. [Q9UI09-2 ]
CCDS9050.1. [Q9UI09-1 ]
RefSeqi NP_001245267.1. NM_001258338.1. [Q9UI09-2 ]
NP_061326.1. NM_018838.4. [Q9UI09-1 ]
UniGenei Hs.506374.

3D structure databases

ProteinModelPortali Q9UI09.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 121013. 22 interactions.
IntActi Q9UI09. 3 interactions.
MINTi MINT-3080427.
STRINGi 9606.ENSP00000330737.

Chemistry

ChEMBLi CHEMBL2363065.

PTM databases

PhosphoSitei Q9UI09.

Polymorphism databases

DMDMi 12229870.

Proteomic databases

MaxQBi Q9UI09.
PaxDbi Q9UI09.
PRIDEi Q9UI09.

Protocols and materials databases

DNASUi 55967.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000327772 ; ENSP00000330737 ; ENSG00000184752 . [Q9UI09-1 ]
ENST00000547986 ; ENSP00000450130 ; ENSG00000184752 . [Q9UI09-2 ]
GeneIDi 55967.
KEGGi hsa:55967.
UCSCi uc001tdl.4. human. [Q9UI09-1 ]

Organism-specific databases

CTDi 55967.
GeneCardsi GC12M095291.
HGNCi HGNC:23987. NDUFA12.
HPAi HPA039903.
MIMi 256000. phenotype.
614530. gene.
neXtProti NX_Q9UI09.
PharmGKBi PA142671269.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG146832.
GeneTreei ENSGT00390000005848.
HOVERGENi HBG024390.
InParanoidi Q9UI09.
KOi K11352.
OMAi FYGRNRW.
PhylomeDBi Q9UI09.
TreeFami TF106106.

Enzyme and pathway databases

Reactomei REACT_22393. Respiratory electron transport.

Miscellaneous databases

ChiTaRSi NDUFA12. human.
GenomeRNAii 55967.
NextBioi 61385.
PROi Q9UI09.
SOURCEi Search...

Gene expression databases

Bgeei Q9UI09.
CleanExi HS_NDUFA12.
ExpressionAtlasi Q9UI09. baseline and differential.
Genevestigatori Q9UI09.

Family and domain databases

InterProi IPR007763. NDUFA12.
[Graphical view ]
PANTHERi PTHR12910. PTHR12910. 1 hit.
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. "Characterization of the human complex I NDUFB7 and 17.2-kDa cDNAs and mutational analysis of 19 genes of the HP fraction in complex I-deficient-patients."
    Triepels R., Smeitink J., Loeffen J., Smeets R., Trijbels F., van den Heuvel L.
    Hum. Genet. 106:385-391(2000) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA].
  2. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
    Tissue: Adrenal gland.
  3. "Cloning of human full-length CDSs in BD Creator(TM) system donor vector."
    Kalnine N., Chen X., Rolfs A., Halleck A., Hines L., Eisenstein S., Koundinya M., Raphael J., Moreira D., Kelley T., LaBaer J., Lin Y., Phelan M., Farmer A.
    Submitted (MAY-2003) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA], VARIANT ALA-104.
  4. "The finished DNA sequence of human chromosome 12."
    Scherer S.E., Muzny D.M., Buhay C.J., Chen R., Cree A., Ding Y., Dugan-Rocha S., Gill R., Gunaratne P., Harris R.A., Hawes A.C., Hernandez J., Hodgson A.V., Hume J., Jackson A., Khan Z.M., Kovar-Smith C., Lewis L.R.
    , Lozado R.J., Metzker M.L., Milosavljevic A., Miner G.R., Montgomery K.T., Morgan M.B., Nazareth L.V., Scott G., Sodergren E., Song X.-Z., Steffen D., Lovering R.C., Wheeler D.A., Worley K.C., Yuan Y., Zhang Z., Adams C.Q., Ansari-Lari M.A., Ayele M., Brown M.J., Chen G., Chen Z., Clerc-Blankenburg K.P., Davis C., Delgado O., Dinh H.H., Draper H., Gonzalez-Garay M.L., Havlak P., Jackson L.R., Jacob L.S., Kelly S.H., Li L., Li Z., Liu J., Liu W., Lu J., Maheshwari M., Nguyen B.-V., Okwuonu G.O., Pasternak S., Perez L.M., Plopper F.J.H., Santibanez J., Shen H., Tabor P.E., Verduzco D., Waldron L., Wang Q., Williams G.A., Zhang J., Zhou J., Allen C.C., Amin A.G., Anyalebechi V., Bailey M., Barbaria J.A., Bimage K.E., Bryant N.P., Burch P.E., Burkett C.E., Burrell K.L., Calderon E., Cardenas V., Carter K., Casias K., Cavazos I., Cavazos S.R., Ceasar H., Chacko J., Chan S.N., Chavez D., Christopoulos C., Chu J., Cockrell R., Cox C.D., Dang M., Dathorne S.R., David R., Davis C.M., Davy-Carroll L., Deshazo D.R., Donlin J.E., D'Souza L., Eaves K.A., Egan A., Emery-Cohen A.J., Escotto M., Flagg N., Forbes L.D., Gabisi A.M., Garza M., Hamilton C., Henderson N., Hernandez O., Hines S., Hogues M.E., Huang M., Idlebird D.G., Johnson R., Jolivet A., Jones S., Kagan R., King L.M., Leal B., Lebow H., Lee S., LeVan J.M., Lewis L.C., London P., Lorensuhewa L.M., Loulseged H., Lovett D.A., Lucier A., Lucier R.L., Ma J., Madu R.C., Mapua P., Martindale A.D., Martinez E., Massey E., Mawhiney S., Meador M.G., Mendez S., Mercado C., Mercado I.C., Merritt C.E., Miner Z.L., Minja E., Mitchell T., Mohabbat F., Mohabbat K., Montgomery B., Moore N., Morris S., Munidasa M., Ngo R.N., Nguyen N.B., Nickerson E., Nwaokelemeh O.O., Nwokenkwo S., Obregon M., Oguh M., Oragunye N., Oviedo R.J., Parish B.J., Parker D.N., Parrish J., Parks K.L., Paul H.A., Payton B.A., Perez A., Perrin W., Pickens A., Primus E.L., Pu L.-L., Puazo M., Quiles M.M., Quiroz J.B., Rabata D., Reeves K., Ruiz S.J., Shao H., Sisson I., Sonaike T., Sorelle R.P., Sutton A.E., Svatek A.F., Svetz L.A., Tamerisa K.S., Taylor T.R., Teague B., Thomas N., Thorn R.D., Trejos Z.Y., Trevino B.K., Ukegbu O.N., Urban J.B., Vasquez L.I., Vera V.A., Villasana D.M., Wang L., Ward-Moore S., Warren J.T., Wei X., White F., Williamson A.L., Wleczyk R., Wooden H.S., Wooden S.H., Yen J., Yoon L., Yoon V., Zorrilla S.E., Nelson D., Kucherlapati R., Weinstock G., Gibbs R.A.
    Nature 440:346-351(2006) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  5. "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], VARIANT ALA-104.
    Tissue: Kidney.
  6. "The subunit composition of the human NADH dehydrogenase obtained by rapid one-step immunopurification."
    Murray J., Zhang B., Taylor S.W., Oglesbee D., Fahy E., Marusich M.F., Ghosh S.S., Capaldi R.A.
    J. Biol. Chem. 278:13619-13622(2003) [PubMed] [Europe PMC] [Abstract]
    Cited for: IDENTIFICATION IN THE NADH-UBIQUINONE OXIDOREDUCTASE COMPLEX, IDENTIFICATION BY MASS SPECTROMETRY.
  7. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
  8. "Respiratory chain complex I deficiency due to NDUFA12 mutations as a new cause of Leigh syndrome."
    Ostergaard E., Rodenburg R.J., van den Brand M., Thomsen L.L., Duno M., Batbayli M., Wibrand F., Nijtmans L.
    J. Med. Genet. 48:737-740(2011) [PubMed] [Europe PMC] [Abstract]
    Cited for: INVOLVEMENT IN LS.
  9. Cited for: ACETYLATION [LARGE SCALE ANALYSIS] AT MET-1, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].

Entry informationi

Entry nameiNDUAC_HUMAN
AccessioniPrimary (citable) accession number: Q9UI09
Secondary accession number(s): F8VQS7, Q53XX0, Q9BRV6
Entry historyi
Integrated into UniProtKB/Swiss-Prot: December 1, 2000
Last sequence update: May 1, 2000
Last modified: October 29, 2014
This is version 123 of the entry and version 1 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 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. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3