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    NDUFC1 NADH:ubiquinone oxidoreductase subunit C1 [ Homo sapiens (human) ]

    Gene ID: 4717, updated on 10-Dec-2024

    Summary

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    Official Symbol
    NDUFC1provided by HGNC
    Official Full Name
    NADH:ubiquinone oxidoreductase subunit C1provided by HGNC
    Primary source
    HGNC:HGNC:7705
    See related
    Ensembl:ENSG00000109390 MIM:603844; AllianceGenome:HGNC:7705
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    KFYI
    Summary
    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]
    Expression
    Ubiquitous expression in kidney (RPKM 30.2), heart (RPKM 27.3) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See NDUFC1 in Genome Data Viewer
    Location:
    4q31.1
    Exon count:
    8
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 4 NC_000004.12 (139289917..139302551, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 4 NC_060928.1 (142609515..142622146, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (140211071..140223705, complement)

    Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene RNA, U6 small nuclear 1074, pseudogene Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr4:140187301-140188500 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21921 Neighboring gene mitochondria localized glutamic acid rich protein Neighboring gene H3K27ac hESC enhancer GRCh37_chr4:140216745-140217308 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21922 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21923 Neighboring gene N-alpha-acetyltransferase 15, NatA auxiliary subunit Neighboring gene RNA, U6 small nuclear 1214, pseudogene Neighboring gene ReSE screen-validated silencer GRCh37_chr4:140305511-140305673 Neighboring gene Gfo/Idh/MocA-like oxidoreductase domain containing 2 pseudogene

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. Identification and primary structure of five human NADH-ubiquinone oxidoreductase subunits. Ton C, et al. Biochem Biophys Res Commun, 1997 Dec 18. PMID 9425316
    2. Intron based radiation hybrid mapping of 15 complex I genes of the human electron transport chain. Emahazion T, et al. Cytogenet Cell Genet, 1998. PMID 9763677
    3. cDNA of eight nuclear encoded subunits of NADH:ubiquinone oxidoreductase: human complex I cDNA characterization completed. Loeffen JL, et al. Biochem Biophys Res Commun, 1998 Dec 18. PMID 9878551
    4. Identification of genes expressed in human CD34(+) hematopoietic stem/progenitor cells by expressed sequence tags and efficient full-length cDNA cloning. Mao M, et al. Proc Natl Acad Sci U S A, 1998 Jul 7. PMID 9653160, Free PMC Article
    5. Accessory subunits are integral for assembly and function of human mitochondrial complex I. Stroud DA, et al. Nature, 2016 Oct 6. PMID 27626371

    See all (20) citations in PubMed

    GeneRIFs: Gene References Into Functions

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Potential readthrough

    Included gene: MGARP

    Homology

    Clone Names

    • MGC117464, MGC126847, MGC138266

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables NADH dehydrogenase (ubiquinone) activity NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in aerobic respiration NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    involved_in mitochondrial electron transport, NADH to ubiquinone NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    involved_in mitochondrial respiratory chain complex I assembly IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in proton motive force-driven mitochondrial ATP synthesis NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    involved_in proton transmembrane transport IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    located_in mitochondrial inner membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in mitochondrial inner membrane TAS
    Traceable Author Statement
    more info
    		  
    located_in mitochondrion HTP PubMed 
    part_of respiratory chain complex I IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    part_of respiratory chain complex I IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    part_of respiratory chain complex I NAS
    Non-traceable Author Statement
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    NADH dehydrogenase [ubiquinone] 1 subunit C1, mitochondrial
    Names
    CI-KFYI
    NADH dehydrogenase (ubiquinone) 1, subcomplex unknown, 1, 6kDa
    NADH-ubiquinone oxidoreductase KFYI subunit
    complex I KFYI subunit
    complex I-KFYI

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001184986.1 → NP_001171915.1  NADH dehydrogenase [ubiquinone] 1 subunit C1, mitochondrial precursor

      See identical proteins and their annotated locations for NP_001171915.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript. Variants 1 through 7 encode the same protein.
      Source sequence(s)
      CA313899, CX163301, W56292
      Consensus CDS
      CCDS3746.1
      UniProtKB/Swiss-Prot
      A8K532, O43677, Q3MIJ9
      UniProtKB/TrEMBL
      Q6IAZ9
      Related
      ENSP00000441126.1, ENST00000544855.5
      Conserved Domains (1) summary
      pfam15088
      Location:28 → 76
      NADH_dh_m_C1; NADH dehydrogenase [ubiquinone] 1 subunit C1, mitochondrial

    2. NM_001184987.1 → NP_001171916.1  NADH dehydrogenase [ubiquinone] 1 subunit C1, mitochondrial precursor

      See identical proteins and their annotated locations for NP_001171916.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR compared to variant 1. Variants 1 through 7 encode the same protein.
      Source sequence(s)
      BM768825, BU677336, W56292
      Consensus CDS
      CCDS3746.1
      UniProtKB/Swiss-Prot
      A8K532, O43677, Q3MIJ9
      UniProtKB/TrEMBL
      Q6IAZ9
      Related
      ENSP00000439882.1, ENST00000539387.5
      Conserved Domains (1) summary
      pfam15088
      Location:28 → 76
      NADH_dh_m_C1; NADH dehydrogenase [ubiquinone] 1 subunit C1, mitochondrial

    3. NM_001184988.1 → NP_001171917.1  NADH dehydrogenase [ubiquinone] 1 subunit C1, mitochondrial precursor

      See identical proteins and their annotated locations for NP_001171917.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) differs in the 5' UTR compared to variant 1. Variants 1 through 7 encode the same protein.
      Source sequence(s)
      BM768825, W56292
      Consensus CDS
      CCDS3746.1
      UniProtKB/Swiss-Prot
      A8K532, O43677, Q3MIJ9
      UniProtKB/TrEMBL
      Q6IAZ9
      Related
      ENSP00000377775.1, ENST00000394228.5
      Conserved Domains (1) summary
      pfam15088
      Location:28 → 76
      NADH_dh_m_C1; NADH dehydrogenase [ubiquinone] 1 subunit C1, mitochondrial

    4. NM_001184989.2 → NP_001171918.1  NADH dehydrogenase [ubiquinone] 1 subunit C1, mitochondrial precursor

      See identical proteins and their annotated locations for NP_001171918.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (5) differs in the 5' UTR compared to variant 1. Variants 1 through 7 encode the same protein.
      Source sequence(s)
      CB160001, W56292
      Consensus CDS
      CCDS3746.1
      UniProtKB/Swiss-Prot
      A8K532, O43677, Q3MIJ9
      UniProtKB/TrEMBL
      Q6IAZ9
      Related
      ENSP00000377770.1, ENST00000394223.2
      Conserved Domains (1) summary
      pfam15088
      Location:28 → 76
      NADH_dh_m_C1; NADH dehydrogenase [ubiquinone] 1 subunit C1, mitochondrial

    5. NM_001184990.1 → NP_001171919.1  NADH dehydrogenase [ubiquinone] 1 subunit C1, mitochondrial precursor

      See identical proteins and their annotated locations for NP_001171919.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (6) differs in the 5' UTR compared to variant 1. Variants 1 through 7 encode the same protein.
      Source sequence(s)
      AC097376, BM768825, CN347371, W56292
      Consensus CDS
      CCDS3746.1
      UniProtKB/Swiss-Prot
      A8K532, O43677, Q3MIJ9
      UniProtKB/TrEMBL
      Q6IAZ9
      Related
      ENSP00000425882.1, ENST00000503997.5
      Conserved Domains (1) summary
      pfam15088
      Location:28 → 76
      NADH_dh_m_C1; NADH dehydrogenase [ubiquinone] 1 subunit C1, mitochondrial

    6. NM_001184991.1 → NP_001171920.1  NADH dehydrogenase [ubiquinone] 1 subunit C1, mitochondrial precursor

      See identical proteins and their annotated locations for NP_001171920.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (7) differs in the 5' UTR compared to variant 1. Variants 1 through 7 encode the same protein.
      Source sequence(s)
      AC097376, CB047240, CX163301, W56292
      Consensus CDS
      CCDS3746.1
      UniProtKB/Swiss-Prot
      A8K532, O43677, Q3MIJ9
      UniProtKB/TrEMBL
      Q6IAZ9
      Related
      ENSP00000440133.1, ENST00000539002.5
      Conserved Domains (1) summary
      pfam15088
      Location:28 → 76
      NADH_dh_m_C1; NADH dehydrogenase [ubiquinone] 1 subunit C1, mitochondrial

    7. NM_002494.3 → NP_002485.1  NADH dehydrogenase [ubiquinone] 1 subunit C1, mitochondrial precursor

      See identical proteins and their annotated locations for NP_002485.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Variants 1 through 7 encode the same protein.
      Source sequence(s)
      AC097376, BC107682, BG701467, W56292
      Consensus CDS
      CCDS3746.1
      UniProtKB/Swiss-Prot
      A8K532, O43677, Q3MIJ9
      UniProtKB/TrEMBL
      Q6IAZ9
      Related
      ENSP00000421195.1, ENST00000505036.5
      Conserved Domains (1) summary
      pfam15088
      Location:28 → 76
      NADH_dh_m_C1; NADH dehydrogenase [ubiquinone] 1 subunit C1, mitochondrial

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000004.12 Reference GRCh38.p14 Primary Assembly

      Range
      139289917..139302551 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060928.1 Alternate T2T-CHM13v2.0

      Range
      142609515..142622146 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    O43677.1 GenPept UniProtKB/Swiss-Prot:O43677

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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