The encoded protein is a subunit of the NADH:ubiquinone oxidoreductase (complex I), the first enzyme complex in the electron transport chain located in the inner mitochondrial membrane. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2010] See more...

Aliases for NDUFC1 Gene

Aliases for NDUFC1 Gene

  • NADH:Ubiquinone Oxidoreductase Subunit C1 2 3 5
  • NADH Dehydrogenase (Ubiquinone) 1, Subcomplex Unknown, 1, 6kDa 2 3
  • NADH Dehydrogenase [Ubiquinone] 1 Subunit C1, Mitochondrial 3 4
  • NADH-Ubiquinone Oxidoreductase KFYI Subunit 3 4
  • Complex I KFYI Subunit 2 3
  • Complex I-KFYI 3 4
  • CI-KFYI 3 4
  • NADH Dehydrogenase (Ubiquinone) 1, Subcomplex Unknown, 1 (6kD, KFYI) 2
  • KFYI 3

External Ids for NDUFC1 Gene

Previous GeneCards Identifiers for NDUFC1 Gene

  • GC04M141092
  • GC04M140510
  • GC04M140677
  • GC04M140788
  • GC04M140568
  • GC04M140430
  • GC04M140212
  • GC04M135941

Summaries for NDUFC1 Gene

Entrez Gene Summary for NDUFC1 Gene

  • The encoded protein is a subunit of the NADH:ubiquinone oxidoreductase (complex I), the first enzyme complex in the electron transport chain located in the inner mitochondrial membrane. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2010]

GeneCards Summary for NDUFC1 Gene

NDUFC1 (NADH:Ubiquinone Oxidoreductase Subunit C1) is a Protein Coding gene. Diseases associated with NDUFC1 include Bacterial Gastritis and Mast Syndrome. Among its related pathways are Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins. and GABAergic synapse. Gene Ontology (GO) annotations related to this gene include NADH dehydrogenase (ubiquinone) activity.

UniProtKB/Swiss-Prot Summary for NDUFC1 Gene

  • 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.

Gene Wiki entry for NDUFC1 Gene

Additional gene information for NDUFC1 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for NDUFC1 Gene

Genomics for NDUFC1 Gene

GeneHancer (GH) Regulatory Elements for NDUFC1 Gene

Promoters and enhancers for NDUFC1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH04J139299 Promoter/Enhancer 2.4 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 520.7 +1.1 1050 4.6 ZBTB40 ZNF217 EP300 SIN3A NRF1 MYC POLR2G USF1 SP1 GTF2E2 NDUFC1 MGARP NAA15 lnc-MGARP-1 RAB33B RNU6-1074P
GH04J139294 Promoter/Enhancer 2.4 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 520.2 +6.9 6947 2.4 EP300 ZBTB40 ZNF217 CTCF TCF12 POLR2G NCOR1 PHF8 TEAD4 ZFX NDUFC1 RAB33B RNU6-1074P ELF2 RNU6-1214P lnc-MGARP-1 MGARP
GH04J139451 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE CraniofacialAtlas 17.4 -151.8 -151833 5.2 HNRNPK EP300 CTCF TCF12 NRF1 MYC POLR2G USF1 PHF8 ZFX RAB33B ENSG00000273247 NDUFC1 MGARP ENSG00000178458 RF00017-4418
GH04J139313 Enhancer 1.1 FANTOM5 ENCODE dbSUPER 19.2 -12.6 -12641 4.1 AFF1 KLF4 LEF1 ZNF316 SRF IRF1 ARNT PBX2 SPI1 NFE2 piR-43107-240 NDUFC1 MGARP RAB33B ENSG00000178458 ELF2 RF00026-828 RNU6-1214P NAA15
GH04J139296 Enhancer 0.9 ENCODE dbSUPER 20.1 +5.4 5387 0.4 FOS MEF2C MYC ZNF830 ZNF316 ARNT MAFF TRIM28 MAX MAFK NDUFC1 RNU6-1074P lnc-MGARP-1 MGARP
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around NDUFC1 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for NDUFC1

Top Transcription factor binding sites by QIAGEN in the NDUFC1 gene promoter:
  • AREB6
  • FOXI1
  • HFH-3
  • Max1
  • Pax-5
  • POU2F1
  • POU2F1a
  • POU2F1b
  • POU2F1c
  • SRY

Genomic Locations for NDUFC1 Gene

Genomic Locations for NDUFC1 Gene
chr4:139,266,880-139,302,551
(GRCh38/hg38)
Size:
35,672 bases
Orientation:
Minus strand
chr4:140,188,034-140,223,705
(GRCh37/hg19)
Size:
35,672 bases
Orientation:
Minus strand

Genomic View for NDUFC1 Gene

Genes around NDUFC1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
NDUFC1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for NDUFC1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for NDUFC1 Gene

Proteins for NDUFC1 Gene

  • Protein details for NDUFC1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O43677-NDUC1_HUMAN
    Recommended name:
    NADH dehydrogenase [ubiquinone] 1 subunit C1, mitochondrial
    Protein Accession:
    O43677
    Secondary Accessions:
    • A8K532
    • Q3MIJ9

    Protein attributes for NDUFC1 Gene

    Size:
    76 amino acids
    Molecular mass:
    8734 Da
    Quaternary structure:
    • Complex I is composed of 45 different subunits.

    Three dimensional structures from OCA and Proteopedia for NDUFC1 Gene

neXtProt entry for NDUFC1 Gene

Post-translational modifications for NDUFC1 Gene

No Post-translational modifications

No data available for DME Specific Peptides for NDUFC1 Gene

Domains & Families for NDUFC1 Gene

Gene Families for NDUFC1 Gene

Protein Domains for NDUFC1 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for NDUFC1 Gene

GenScript: Design optimal peptide antigens:
  • NADH-ubiquinone oxidoreductase KFYI subunit (NDUC1_HUMAN)
  • NDUFC1 protein (Q6IAZ9_HUMAN)

Graphical View of Domain Structure for InterPro Entry

O43677

UniProtKB/Swiss-Prot:

NDUC1_HUMAN :
  • Belongs to the complex I NDUFC1 subunit family.
Family:
  • Belongs to the complex I NDUFC1 subunit family.
genes like me logo Genes that share domains with NDUFC1: view

Function for NDUFC1 Gene

Molecular function for NDUFC1 Gene

UniProtKB/Swiss-Prot Function:
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.
GENATLAS Biochemistry:
NADH ubiquinone oxidoreductase (Q reductase),6kDa,subcomplex unkknown,1

Phenotypes From GWAS Catalog for NDUFC1 Gene

Gene Ontology (GO) - Molecular Function for NDUFC1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008137 NADH dehydrogenase (ubiquinone) activity TAS,NAS 9878551
genes like me logo Genes that share ontologies with NDUFC1: view
genes like me logo Genes that share phenotypes with NDUFC1: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for NDUFC1

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for NDUFC1 Gene

Localization for NDUFC1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for NDUFC1 Gene

Mitochondrion inner membrane; Single-pass membrane protein; Matrix side.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for NDUFC1 gene
Compartment Confidence
mitochondrion 5
nucleus 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for NDUFC1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion IDA --
GO:0005743 mitochondrial inner membrane TAS --
GO:0005747 mitochondrial respiratory chain complex I NAS 9878551
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with NDUFC1: view

Pathways & Interactions for NDUFC1 Gene

genes like me logo Genes that share pathways with NDUFC1: view

Gene Ontology (GO) - Biological Process for NDUFC1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006120 mitochondrial electron transport, NADH to ubiquinone TAS --
GO:0032981 mitochondrial respiratory chain complex I assembly TAS --
GO:0055114 oxidation-reduction process IEA --
genes like me logo Genes that share ontologies with NDUFC1: view

No data available for SIGNOR curated interactions for NDUFC1 Gene

Drugs & Compounds for NDUFC1 Gene

(1) Drugs for NDUFC1 Gene - From: DrugBank and HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
NADH Approved Nutra Target 0
genes like me logo Genes that share compounds with NDUFC1: view

Transcripts for NDUFC1 Gene

mRNA/cDNA for NDUFC1 Gene

7 REFSEQ mRNAs :
17 NCBI additional mRNA sequence :
11 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for NDUFC1

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for NDUFC1 Gene

No ASD Table

Relevant External Links for NDUFC1 Gene

GeneLoc Exon Structure for
NDUFC1

Expression for NDUFC1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for NDUFC1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for NDUFC1 Gene

This gene is overexpressed in Nasal epithelium (67.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for NDUFC1 Gene



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for NDUFC1

SOURCE GeneReport for Unigene cluster for NDUFC1 Gene:

Hs.84549

Evidence on tissue expression from TISSUES for NDUFC1 Gene

  • Heart(4.4)
  • Blood(4.3)
  • Nervous system(4.3)
  • Skin(4.2)
genes like me logo Genes that share expression patterns with NDUFC1: view

No data available for mRNA differential expression in normal tissues , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for NDUFC1 Gene

Orthologs for NDUFC1 Gene

This gene was present in the common ancestor of mammals.

Orthologs for NDUFC1 Gene

Organism Taxonomy Gene Similarity Type Details
rat
(Rattus norvegicus)
Mammalia Ndufc1 30
  • 82.02 (n)
cow
(Bos Taurus)
Mammalia NDUFC1 31 30
  • 81.14 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Ndufc1 17 31 30
  • 79.39 (n)
dog
(Canis familiaris)
Mammalia NDUFC1 31 30
  • 77.19 (n)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia NDUFC1 31
  • 66 (a)
OneToOne
Species where no ortholog for NDUFC1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chicken (Gallus gallus)
  • chimpanzee (Pan troglodytes)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)
  • zebrafish (Danio rerio)

Evolution for NDUFC1 Gene

ENSEMBL:
Gene Tree for NDUFC1 (if available)
TreeFam:
Gene Tree for NDUFC1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for NDUFC1: view image

Paralogs for NDUFC1 Gene

No data available for Paralogs for NDUFC1 Gene

Variants for NDUFC1 Gene

Additional dbSNP identifiers (rs#s) for NDUFC1 Gene

Variation tolerance for NDUFC1 Gene

Residual Variation Intolerance Score: 63.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.68; 14.58% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for NDUFC1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
NDUFC1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot , Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP and Structural Variations from Database of Genomic Variants (DGV) for NDUFC1 Gene

Disorders for NDUFC1 Gene

MalaCards: The human disease database

(3) MalaCards diseases for NDUFC1 Gene - From: DISEASES

Disorder Aliases PubMed IDs
bacterial gastritis
mast syndrome
  • spastic paraplegia 21, autosomal recessive; spg21
visual epilepsy
  • epilepsy, visual
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for NDUFC1

genes like me logo Genes that share disorders with NDUFC1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for NDUFC1 Gene

Publications for NDUFC1 Gene

  1. Identification and primary structure of five human NADH-ubiquinone oxidoreductase subunits. (PMID: 9425316) Ton C … Liew CC (Biochemical and biophysical research communications 1997) 2 3 4 54
  2. Accessory subunits are integral for assembly and function of human mitochondrial complex I. (PMID: 27626371) Stroud DA … Ryan MT (Nature 2016) 3 4 54
  3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 54
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 54
  5. Identification of genes expressed in human CD34(+) hematopoietic stem/progenitor cells by expressed sequence tags and efficient full-length cDNA cloning. (PMID: 9653160) Mao M … Chen Z (Proceedings of the National Academy of Sciences of the United States of America 1998) 3 4 54

Products for NDUFC1 Gene

Sources for NDUFC1 Gene