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

    Gene ID: 4717, updated on 11-Apr-2024

    Summary

    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
    NEW
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    Try the new Transcript table

    Genomic context

    See NDUFC1 in Genome Data Viewer
    Location:
    4q31.1
    Exon count:
    8
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 4 NC_000004.12 (139289917..139302551, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 4 NC_060928.1 (142609515..142622146, complement)
    105.20220307 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 glucose-fructose oxidoreductase domain containing 2 pseudogene

    Genomic regions, transcripts, and products

    Expression

    • 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

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Potential readthrough

    Included gene: MGARP

    Clone Names

    • MGC117464, MGC126847, MGC138266

    General protein information

    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)

    NEW Try the new Transcript table

    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_001184986.1NP_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:2876
      NADH_dh_m_C1; NADH dehydrogenase [ubiquinone] 1 subunit C1, mitochondrial
    2. NM_001184987.1NP_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:2876
      NADH_dh_m_C1; NADH dehydrogenase [ubiquinone] 1 subunit C1, mitochondrial
    3. NM_001184988.1NP_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:2876
      NADH_dh_m_C1; NADH dehydrogenase [ubiquinone] 1 subunit C1, mitochondrial
    4. NM_001184989.2NP_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:2876
      NADH_dh_m_C1; NADH dehydrogenase [ubiquinone] 1 subunit C1, mitochondrial
    5. NM_001184990.1NP_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:2876
      NADH_dh_m_C1; NADH dehydrogenase [ubiquinone] 1 subunit C1, mitochondrial
    6. NM_001184991.1NP_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:2876
      NADH_dh_m_C1; NADH dehydrogenase [ubiquinone] 1 subunit C1, mitochondrial
    7. NM_002494.3NP_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:2876
      NADH_dh_m_C1; NADH dehydrogenase [ubiquinone] 1 subunit C1, mitochondrial

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

    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)