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    NDUFA7 NADH:ubiquinone oxidoreductase subunit A7 [ Homo sapiens (human) ]

    Gene ID: 4701, updated on 27-Nov-2024

    Summary

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    Official Symbol
    NDUFA7provided by HGNC
    Official Full Name
    NADH:ubiquinone oxidoreductase subunit A7provided by HGNC
    Primary source
    HGNC:HGNC:7691
    See related
    Ensembl:ENSG00000267855 MIM:602139; AllianceGenome:HGNC:7691
    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
    B14.5a; CI-B14.5a
    Summary
    This gene encodes a subunit of NADH:ubiquinone oxidoreductase (complex I), which is a multiprotein complex located in the inner mitochondrial membrane. Complex I functions in the transfer of electrons from NADH to the respiratory chain. [provided by RefSeq, Mar 2011]
    Expression
    Ubiquitous expression in heart (RPKM 24.4), kidney (RPKM 16.8) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See NDUFA7 in Genome Data Viewer
    Location:
    19p13.2
    Exon count:
    5
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (8308595..8321375, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (8295117..8307894, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (8373479..8386259, complement)

    Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene ceramide synthase 4 Neighboring gene uncharacterized LOC107985282 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10014 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13910 Neighboring gene MPRA-validated peak3333 silencer Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:8368800-8369366 Neighboring gene H3K27ac hESC enhancer GRCh37_chr19:8372005-8372745 Neighboring gene H3K27ac hESC enhancer GRCh37_chr19:8372746-8373485 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:8373541-8374070 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:8376825-8377427 Neighboring gene CD320 molecule Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:8380680-8381486 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:8384379-8385346 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancers GRCh37_chr19:8385347-8386314 and GRCh37_chr19:8386315-8387282 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:8387283-8388248 Neighboring gene ribosomal protein S28 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10016 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10017 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10018 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10019 Neighboring gene KN motif and ankyrin repeat domains 3 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:8405154-8405654 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:8407589-8408380 Neighboring gene ribosomal protein L17 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. In situ hybridisation mapping of genomic clones for five human respiratory chain complex I genes. Dunbar DR, et al. Cytogenet Cell Genet, 1997. PMID 9345899
    2. Mapping of the NDUFA2, NDUFA6, NDUFA7, NDUFB8, and NDUFS8 electron transport chain genes by intron based radiation hybrid mapping. Emahazion T, et al. Cytogenet Cell Genet, 1998. PMID 9763676
    3. A physical and transcript map of the MCOLN1 gene region on human chromosome 19p13.3-p13.2. Acierno JS Jr, et al. Genomics, 2001 Apr 15. PMID 11318610
    4. 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
    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 (57) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Observational study of gene-disease association. (HuGE Navigator)
      Title: Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.
    Submit: New GeneRIF Correction

    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

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables NADH dehydrogenase (ubiquinone) activity NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    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 IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in mitochondrial electron transport, NADH to ubiquinone NAS
    Non-traceable Author Statement
    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 
    located_in mitochondrion IDA
    Inferred from Direct Assay
    more info
    		  
    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 alpha subcomplex subunit 7
    Names
    NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 7, 14.5kDa
    NADH-ubiquinone oxidoreductase subunit B14.5a
    complex I B14.5a subunit

    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.

    Genomic

    1. NG_028213.2 RefSeqGene

      Range
      5022..15113
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_005001.5 → NP_004992.2  NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 7

      See identical proteins and their annotated locations for NP_004992.2

      Status: REVIEWED

      Source sequence(s)
      AC010323, BC003102
      Consensus CDS
      CCDS42492.1
      UniProtKB/Swiss-Prot
      O95182
      UniProtKB/TrEMBL
      Q6IB89
      Related
      ENSP00000301457.1, ENST00000301457.3
      Conserved Domains (1) summary
      pfam07347
      Location:5 → 102
      CI-B14_5a; NADH:ubiquinone oxidoreductase subunit B14.5a (Complex I-B14.5a)

    RNA

    1. NR_135539.2 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AC010323, BC003102, CR975510

    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_000019.10 Reference GRCh38.p14 Primary Assembly

      Range
      8308595..8321375 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060943.1 Alternate T2T-CHM13v2.0

      Range
      8295117..8307894 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    O95182.3 GenPept UniProtKB/Swiss-Prot:O95182

    Gene LinkOut

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

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