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Protein

NADH dehydrogenase [ubiquinone] 1 subunit C2

Gene

NDUFC2

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

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

Names & Taxonomyi

Protein namesi
Recommended name:
NADH dehydrogenase [ubiquinone] 1 subunit C2
Alternative name(s):
Complex I-B14.5b
Short name:
CI-B14.5b
Human lung cancer oncogene 1 protein
Short name:
HLC-1
NADH-ubiquinone oxidoreductase subunit B14.5b
Gene namesi
Name:NDUFC2
ORF Names:HLC1
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 11

Organism-specific databases

HGNCiHGNC:7706. NDUFC2.

Subcellular locationi

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Transmembranei56 – 7520HelicalSequence analysisAdd
BLAST

GO - Cellular componenti

Complete GO annotation...

Keywords - Cellular componenti

Membrane, Mitochondrion, Mitochondrion inner membrane

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA31517.

Chemistry

ChEMBLiCHEMBL2363065.
DrugBankiDB01136. Carvedilol.

Polymorphism and mutation databases

BioMutaiNDUFC2.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 119119NADH dehydrogenase [ubiquinone] 1 subunit C2PRO_0000118837Add
BLAST

Proteomic databases

EPDiO95298.
PaxDbiO95298.
PeptideAtlasiO95298.
PRIDEiO95298.
TopDownProteomicsiO95298-1. [O95298-1]

PTM databases

iPTMnetiO95298.
PhosphoSiteiO95298.

Expressioni

Gene expression databases

BgeeiENSG00000151366.
CleanExiHS_NDUFC2.
ExpressionAtlasiO95298. baseline and differential.
GenevisibleiO95298. HS.

Organism-specific databases

HPAiHPA038873.
HPA056195.

Interactioni

Subunit structurei

Complex I is composed of 45 different subunits.1 Publication

Protein-protein interaction databases

BioGridi110798. 19 interactions.
IntActiO95298. 4 interactions.
MINTiMINT-3002867.
STRINGi9606.ENSP00000281031.

Structurei

3D structure databases

ProteinModelPortaliO95298.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Belongs to the complex I NDUFC2 subunit family.Curated

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiKOG4516. Eukaryota.
ENOG410Y341. LUCA.
GeneTreeiENSGT00390000010352.
HOGENOMiHOG000113753.
HOVERGENiHBG001727.
InParanoidiO95298.
KOiK03968.
OMAiGRVPLQF.
OrthoDBiEOG091G0ZKK.
PhylomeDBiO95298.
TreeFamiTF314723.

Family and domain databases

InterProiIPR009423. NADH-UbQ_OxRdtase_b14.5b_su.
[Graphical view]
PANTHERiPTHR13099. PTHR13099. 1 hit.
PfamiPF06374. NDUF_C2. 1 hit.
[Graphical view]
PIRSFiPIRSF017834. NADH-UbQ_OxRdtase_b14.5b. 1 hit.

Sequences (4)i

Sequence statusi: Complete.

This entry describes 4 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 3 (identifier: O95298-1) [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
MIARRNPEPL RFLPDEARSL PPPKLTDPRL LYIGFLGYCS GLIDNLIRRR
60 70 80 90 100
PIATAGLHRQ LLYITAFFFA GYYLVKREDY LYAVRDREMF GYMKLHPEDF
110
PEEDKKTYGE IFEKFHPIR
Length:119
Mass (Da):14,188
Last modified:May 1, 1999 - v1
Checksum:i9A47DEE33DC9244D
GO
Isoform 4 (identifier: O95298-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     56-78: Missing.

Note: Gene prediction based on EST data.
Show »
Length:96
Mass (Da):11,399
Checksum:i5144A1E115F55FF6
GO
Isoform 5 (identifier: O95298-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     77-119: REDYLYAVRDREMFGYMKLHPEDFPEEDKKTYGEIFEKFHPIR → LEAYANLYVDTL

Note: Gene prediction based on EST data.
Show »
Length:88
Mass (Da):10,145
Checksum:i8D7F15EF0BFAC7CE
GO
Isoform 2 (identifier: E9PQ53-1) [UniParc]FASTAAdd to basket
Also known as: NDUFC2-KCTD14
The sequence of this isoform can be found in the external entry E9PQ53.
Isoforms of the same protein are often annotated in two different entries if their sequences differ significantly.
Note: Based on a readthrough transcript which may produce a NDUFC2-KCTD14 fusion protein. No experimental confirmation available.
Length:114
Mass (Da):13,408
GO

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti46 – 461L → V.4 Publications
Corresponds to variant rs8875 [ dbSNP | Ensembl ].
VAR_014486

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei56 – 7823Missing in isoform 4. CuratedVSP_047317Add
BLAST
Alternative sequencei77 – 11943REDYL…FHPIR → LEAYANLYVDTL in isoform 5. CuratedVSP_047318Add
BLAST

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF087659 mRNA. Translation: AAD09754.1.
AF087899 mRNA. Translation: AAP97198.1.
AF070652 mRNA. Translation: AAD20958.1.
AL050278 mRNA. Translation: CAB43379.1.
AF369951 mRNA. Translation: AAM21294.1.
CR533448 mRNA. Translation: CAG38479.1.
AP003032 Genomic DNA. No translation available.
CH471076 Genomic DNA. Translation: EAW75046.1.
BC007323 mRNA. Translation: AAH07323.1.
CCDSiCCDS55779.1. [O95298-2]
CCDS55781.1. [O95298-3]
CCDS8257.1. [O95298-1]
PIRiT08728.
RefSeqiNP_001190983.1. NM_001204054.1. [O95298-3]
NP_001190984.1. NM_001204055.1. [O95298-2]
NP_004540.1. NM_004549.5. [O95298-1]
UniGeneiHs.407860.

Genome annotation databases

EnsembliENST00000281031; ENSP00000281031; ENSG00000151366. [O95298-1]
ENST00000525085; ENSP00000434262; ENSG00000151366. [O95298-2]
ENST00000527806; ENSP00000432739; ENSG00000151366. [O95298-3]
GeneIDi4718.
KEGGihsa:4718.
UCSCiuc009yuw.4. human. [O95298-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF087659 mRNA. Translation: AAD09754.1.
AF087899 mRNA. Translation: AAP97198.1.
AF070652 mRNA. Translation: AAD20958.1.
AL050278 mRNA. Translation: CAB43379.1.
AF369951 mRNA. Translation: AAM21294.1.
CR533448 mRNA. Translation: CAG38479.1.
AP003032 Genomic DNA. No translation available.
CH471076 Genomic DNA. Translation: EAW75046.1.
BC007323 mRNA. Translation: AAH07323.1.
CCDSiCCDS55779.1. [O95298-2]
CCDS55781.1. [O95298-3]
CCDS8257.1. [O95298-1]
PIRiT08728.
RefSeqiNP_001190983.1. NM_001204054.1. [O95298-3]
NP_001190984.1. NM_001204055.1. [O95298-2]
NP_004540.1. NM_004549.5. [O95298-1]
UniGeneiHs.407860.

3D structure databases

ProteinModelPortaliO95298.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi110798. 19 interactions.
IntActiO95298. 4 interactions.
MINTiMINT-3002867.
STRINGi9606.ENSP00000281031.

Chemistry

ChEMBLiCHEMBL2363065.
DrugBankiDB01136. Carvedilol.

PTM databases

iPTMnetiO95298.
PhosphoSiteiO95298.

Polymorphism and mutation databases

BioMutaiNDUFC2.

Proteomic databases

EPDiO95298.
PaxDbiO95298.
PeptideAtlasiO95298.
PRIDEiO95298.
TopDownProteomicsiO95298-1. [O95298-1]

Protocols and materials databases

DNASUi4718.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000281031; ENSP00000281031; ENSG00000151366. [O95298-1]
ENST00000525085; ENSP00000434262; ENSG00000151366. [O95298-2]
ENST00000527806; ENSP00000432739; ENSG00000151366. [O95298-3]
GeneIDi4718.
KEGGihsa:4718.
UCSCiuc009yuw.4. human. [O95298-1]

Organism-specific databases

CTDi4718.
GeneCardsiNDUFC2.
HGNCiHGNC:7706. NDUFC2.
HPAiHPA038873.
HPA056195.
MIMi603845. gene.
neXtProtiNX_O95298.
PharmGKBiPA31517.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG4516. Eukaryota.
ENOG410Y341. LUCA.
GeneTreeiENSGT00390000010352.
HOGENOMiHOG000113753.
HOVERGENiHBG001727.
InParanoidiO95298.
KOiK03968.
OMAiGRVPLQF.
OrthoDBiEOG091G0ZKK.
PhylomeDBiO95298.
TreeFamiTF314723.

Enzyme and pathway databases

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

Miscellaneous databases

GeneWikiiNDUFC2.
GenomeRNAii4718.
PROiO95298.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000151366.
CleanExiHS_NDUFC2.
ExpressionAtlasiO95298. baseline and differential.
GenevisibleiO95298. HS.

Family and domain databases

InterProiIPR009423. NADH-UbQ_OxRdtase_b14.5b_su.
[Graphical view]
PANTHERiPTHR13099. PTHR13099. 1 hit.
PfamiPF06374. NDUF_C2. 1 hit.
[Graphical view]
PIRSFiPIRSF017834. NADH-UbQ_OxRdtase_b14.5b. 1 hit.
ProtoNetiSearch...

Entry informationi

Entry nameiNDUC2_HUMAN
AccessioniPrimary (citable) accession number: O95298
Secondary accession number(s): E9PNU8
, E9PRB2, Q549M5, Q6FIH8, Q9UBJ9
Entry historyi
Integrated into UniProtKB/Swiss-Prot: July 15, 1999
Last sequence update: May 1, 1999
Last modified: September 7, 2016
This is version 136 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 11
    Human chromosome 11: 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

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 one 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.