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NDUFA1 NADH:ubiquinone oxidoreductase subunit A1 [ Homo sapiens (human) ]

Gene ID: 4694, updated on 18-Aug-2020

Summary

Official Symbol
NDUFA1provided by HGNC
Official Full Name
NADH:ubiquinone oxidoreductase subunit A1provided by HGNC
Primary source
HGNC:HGNC:7683
See related
Ensembl:ENSG00000125356 MIM:300078
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
MWFE; ZNF183; CI-MWFE; MC1DN12
Summary
The human NDUFA1 gene codes for an essential component of complex I of the respiratory chain, which transfers electrons from NADH to ubiquinone. It has been noted that the N-terminal hydrophobic domain has the potential to be folded into an alpha-helix spanning the inner mitochondrial membrane with a C-terminal hydrophilic domain interacting with globular subunits of complex I. The highly conserved two-domain structure suggests that this feature is critical for the protein function and might act as an anchor for the NADH:ubiquinone oxidoreductase complex at the inner mitochondrial membrane. However, the NDUFA1 peptide is one of about 31 components of the "hydrophobic protein" (HP) fraction of complex I which is involved in proton translocation. Thus the NDUFA1 peptide may also participate in that function. [provided by RefSeq, Jul 2008]
Expression
Ubiquitous expression in kidney (RPKM 152.0), colon (RPKM 151.4) and 25 other tissues See more
Orthologs

Genomic context

See NDUFA1 in Genome Data Viewer
Location:
Xq24
Exon count:
3
Annotation release Status Assembly Chr Location
109.20200815 current GRCh38.p13 (GCF_000001405.39) X NC_000023.11 (119871832..119876662)
105 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (119005734..119010629)

Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene UPF3B regulator of nonsense mediated mRNA decay Neighboring gene UPF3B, regulator of nonsense mediated mRNA decay pseudogene Neighboring gene ring finger protein 113A Neighboring gene Sharpr-MPRA regulatory region 5043 Neighboring gene A-kinase anchoring protein 14 Neighboring gene NFKB activating protein

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

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Mitochondrial complex 1 deficiency, nuclear type 12
MedGen: C4746984 OMIM: 301020 GeneReviews: Not available
Compare labs

Copy number response

Description
Copy number response
Haploinsufficency

No evidence available (Last evaluated (2012-07-25)

ClinGen Genome Curation Page
Triplosensitivity

No evidence available (Last evaluated (2012-07-25)

ClinGen Genome Curation Page

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
NADH dehydrogenase (ubiquinone) activity NAS
Non-traceable Author Statement
more info
PubMed 
Component Evidence Code Pubs
cytosol IDA
Inferred from Direct Assay
more info
 
integral component of membrane IEA
Inferred from Electronic Annotation
more info
 
mitochondrial inner membrane TAS
Traceable Author Statement
more info
 
mitochondrial membrane IDA
Inferred from Direct Assay
more info
PubMed 
mitochondrial respiratory chain complex I IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
mitochondrial respiratory chain complex I IDA
Inferred from Direct Assay
more info
PubMed 
mitochondrial respiratory chain complex I NAS
Non-traceable Author Statement
more info
PubMed 
mitochondrion IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 1
Names
NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 1, 7.5kDa
NADH-ubiquinone oxidoreductase MWFE subunit
NADH:ubiquinone oxidoreductase (complex 1)
complex I MWFE subunit
type I dehydrogenase
NP_004532.1

NCBI Reference Sequences (RefSeq)

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_009381.1 RefSeqGene

    Range
    5062..9892
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_004541.4NP_004532.1  NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 1

    See identical proteins and their annotated locations for NP_004532.1

    Status: REVIEWED

    Source sequence(s)
    AC002477, BC000266
    Consensus CDS
    CCDS14590.1
    UniProtKB/Swiss-Prot
    O15239
    UniProtKB/TrEMBL
    Q6IBB5
    Related
    ENSP00000360492.4, ENST00000371437.5
    Conserved Domains (1) summary
    pfam15879
    Location:256
    MWFE; NADH-ubiquinone oxidoreductase MWFE subunit

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20200815

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000023.11 Reference GRCh38.p13 Primary Assembly

    Range
    119871832..119876662
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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