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

Gene ID: 4717, updated on 11-Apr-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
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Genomic context

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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

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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 (19) 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)

Genotypes

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 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
  
part_of mitochondrial respiratory chain complex I IBA
Inferred from Biological aspect of Ancestor
more info
  
part_of mitochondrial respiratory chain complex I IDA
Inferred from Direct Assay
more info
 PubMed 
part_of mitochondrial respiratory chain complex I IPI
Inferred from Physical Interaction
more info
 PubMed 
part_of mitochondrial 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_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)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
O43677.1 GenPept UniProtKB/Swiss-Prot:O43677

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