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

Gene ID: 4701, updated on 11-Apr-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
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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_2023_10 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (8308595..8321375, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (8295117..8307894, complement)
105.20220307 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. 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
  2. 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
  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 (48) 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)

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

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 
enables structural constituent of ribosome ISS
Inferred from Sequence or Structural Similarity
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 mitochondrial translation ISS
Inferred from Sequence or Structural Similarity
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 
located_in mitochondrial ribosome ISS
Inferred from Sequence or Structural Similarity
more info
 PubMed 
located_in mitochondrion IDA
Inferred from Direct Assay
more info
  

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_2023_10

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

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