Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.
Protein

NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 1

Gene

NDUFA1

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.

GO - Molecular functioni

  • NADH dehydrogenase (ubiquinone) activity Source: UniProtKB

GO - Biological processi

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 1
Alternative name(s):
Complex I-MWFE
Short name:
CI-MWFE
NADH-ubiquinone oxidoreductase MWFE subunit
Gene namesi
Name:NDUFA1
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640 Componenti: Chromosome X

Organism-specific databases

HGNCiHGNC:7683. NDUFA1.

Subcellular locationi

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Transmembranei1 – 2121HelicalSequence AnalysisAdd
BLAST

GO - Cellular componenti

  • integral component of membrane Source: UniProtKB-KW
  • mitochondrial inner membrane Source: Reactome
  • mitochondrial membrane Source: UniProtKB
  • mitochondrial respiratory chain complex I Source: UniProtKB
  • mitochondrion Source: MGI
Complete GO annotation...

Keywords - Cellular componenti

Membrane, Mitochondrion, Mitochondrion inner membrane

Pathology & Biotechi

Involvement in diseasei

Mitochondrial complex I deficiency (MT-C1D)1 Publication

The disease is caused by mutations affecting the gene represented in this entry.

Disease descriptionA disorder of the mitochondrial respiratory chain that causes a wide range of clinical manifestations 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.

See also OMIM:252010
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti8 – 81G → R in MT-C1D. 1 Publication
VAR_035099
Natural varianti37 – 371R → S in MT-C1D. 1 Publication
VAR_035100

Keywords - Diseasei

Disease mutation

Organism-specific databases

MIMi252010. phenotype.
Orphaneti2609. Isolated NADH-CoQ reductase deficiency.
PharmGKBiPA31489.

Polymorphism and mutation databases

BioMutaiNDUFA1.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 7070NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 1PRO_0000118817Add
BLAST

Proteomic databases

MaxQBiO15239.
PaxDbiO15239.
PeptideAtlasiO15239.
PRIDEiO15239.

PTM databases

PhosphoSiteiO15239.

Expressioni

Tissue specificityi

Primarily expressed in heart and skeletal muscle.

Gene expression databases

BgeeiO15239.
CleanExiHS_NDUFA1.
ExpressionAtlasiO15239. baseline and differential.
GenevisibleiO15239. HS.

Organism-specific databases

HPAiCAB009260.
HPA054359.

Interactioni

Subunit structurei

Complex I is composed of 45 different subunits.1 Publication

Protein-protein interaction databases

BioGridi110774. 4 interactions.
IntActiO15239. 3 interactions.
MINTiMINT-1419020.
STRINGi9606.ENSP00000360492.

Structurei

3D structure databases

ProteinModelPortaliO15239.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Belongs to the complex I NDUFA1 subunit family.Curated

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiNOG79354.
HOGENOMiHOG000010206.
HOVERGENiHBG000813.
InParanoidiO15239.
KOiK03945.
OMAiWYLMERD.
OrthoDBiEOG7NGQFC.
PhylomeDBiO15239.
TreeFamiTF333394.

Family and domain databases

InterProiIPR017384. NADH_Ub_cplx-1_asu_su-1.
[Graphical view]
PANTHERiPTHR17098. PTHR17098. 1 hit.
PIRSFiPIRSF038095. NDUA1. 1 hit.

Sequencei

Sequence statusi: Complete.

O15239-1 [UniParc]FASTAAdd to basket

« Hide

        10         20         30         40         50
MWFEILPGLS VMGVCLLIPG LATAYIHRFT NGGKEKRVAH FGYHWSLMER
60 70
DRRISGVDRY YVSKGLENID
Length:70
Mass (Da):8,072
Last modified:January 1, 1998 - v1
Checksum:iE4004A62117BF253
GO

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti8 – 81G → R in MT-C1D. 1 Publication
VAR_035099
Natural varianti32 – 321G → R.
Corresponds to variant rs1801316 [ dbSNP | Ensembl ].
VAR_014485
Natural varianti37 – 371R → S in MT-C1D. 1 Publication
VAR_035100
Natural varianti53 – 531R → C in a colorectal cancer sample; somatic mutation. 1 Publication
VAR_036173

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
X81900 mRNA. Translation: CAA57489.1.
U54993 mRNA. Translation: AAD00084.1.
BC000266 mRNA. Translation: AAH00266.1.
CCDSiCCDS14590.1.
RefSeqiNP_004532.1. NM_004541.3.
UniGeneiHs.534168.

Genome annotation databases

EnsembliENST00000371437; ENSP00000360492; ENSG00000125356.
GeneIDi4694.
KEGGihsa:4694.
UCSCiuc004esc.4. human.

Keywords - Coding sequence diversityi

Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
X81900 mRNA. Translation: CAA57489.1.
U54993 mRNA. Translation: AAD00084.1.
BC000266 mRNA. Translation: AAH00266.1.
CCDSiCCDS14590.1.
RefSeqiNP_004532.1. NM_004541.3.
UniGeneiHs.534168.

3D structure databases

ProteinModelPortaliO15239.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi110774. 4 interactions.
IntActiO15239. 3 interactions.
MINTiMINT-1419020.
STRINGi9606.ENSP00000360492.

Chemistry

ChEMBLiCHEMBL2363065.

PTM databases

PhosphoSiteiO15239.

Polymorphism and mutation databases

BioMutaiNDUFA1.

Proteomic databases

MaxQBiO15239.
PaxDbiO15239.
PeptideAtlasiO15239.
PRIDEiO15239.

Protocols and materials databases

DNASUi4694.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000371437; ENSP00000360492; ENSG00000125356.
GeneIDi4694.
KEGGihsa:4694.
UCSCiuc004esc.4. human.

Organism-specific databases

CTDi4694.
GeneCardsiGC0XP119005.
HGNCiHGNC:7683. NDUFA1.
HPAiCAB009260.
HPA054359.
MIMi252010. phenotype.
300078. gene.
neXtProtiNX_O15239.
Orphaneti2609. Isolated NADH-CoQ reductase deficiency.
PharmGKBiPA31489.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiNOG79354.
HOGENOMiHOG000010206.
HOVERGENiHBG000813.
InParanoidiO15239.
KOiK03945.
OMAiWYLMERD.
OrthoDBiEOG7NGQFC.
PhylomeDBiO15239.
TreeFamiTF333394.

Enzyme and pathway databases

ReactomeiREACT_22393. Respiratory electron transport.

Miscellaneous databases

ChiTaRSiNDUFA1. human.
GeneWikiiNADH_dehydrogenase_(ubiquinone),_alpha_1.
GenomeRNAii4694.
NextBioi18102.
PROiO15239.
SOURCEiSearch...

Gene expression databases

BgeeiO15239.
CleanExiHS_NDUFA1.
ExpressionAtlasiO15239. baseline and differential.
GenevisibleiO15239. HS.

Family and domain databases

InterProiIPR017384. NADH_Ub_cplx-1_asu_su-1.
[Graphical view]
PANTHERiPTHR17098. PTHR17098. 1 hit.
PIRSFiPIRSF038095. NDUA1. 1 hit.
ProtoNetiSearch...

Publicationsi

« Hide 'large scale' publications
  1. "Isolation, mapping, and genomic structure of an X-linked gene for a subunit of human mitochondrial complex I."
    Zhuchenko O., Wehnert M., Bailey J., Sun Z.S., Lee C.C.
    Genomics 37:281-288(1996) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA].
  2. "Identification of a new member (ZNF183) of the Ring finger gene family in Xq24-25."
    Frattini A., Faranda S., Bagnasco L., Patrosso C., Nulli P., Zucchi I., Vezzoni P.
    Gene 192:291-298(1997) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA].
    Tissue: Liver.
  3. "hMWFE gene -- component of human mitochondrial complex I."
    Zhuchenko O.P., Wehnert M., Bailey J., Sun Z.S., Lee C.C.
    Submitted (APR-1996) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE [MRNA].
  4. "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].
    Tissue: Eye.
  5. "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.
  6. Cited for: VARIANT [LARGE SCALE ANALYSIS] CYS-53.
  7. Cited for: VARIANTS MT-C1D ARG-8 AND SER-37.

Entry informationi

Entry nameiNDUA1_HUMAN
AccessioniPrimary (citable) accession number: O15239
Entry historyi
Integrated into UniProtKB/Swiss-Prot: July 15, 1998
Last sequence update: January 1, 1998
Last modified: June 24, 2015
This is version 133 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 X
    Human chromosome X: 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

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into Uniref entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.