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

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; AllianceGenome:HGNC:7683
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: mouse all
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Genomic context

Location:: Xq24

Exon count:: 3

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	X	NC_000023.11 (119871832..119876662)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	X	NC_060947.1 (118246954..118251785)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	X	NC_000023.10 (119005795..119010625)

Chromosome X - NC_000023.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

NDUFA1 p.Gly32Arg variant in early-onset dementia.
Title: NDUFA1 p.Gly32Arg variant in early-onset dementia.
Results from a study on gene expression variability markers in early-stage human embryos shows that NDUF1A is a putative expression variability marker for the 3-day, 8-cell embryo stage.
Title: Variability of Gene Expression Identifies Transcriptional Regulators of Early Human Embryonic Development.
The gene signature of OPA1, CTSA, NDUFA1, STK10 and PRDX1 was able to identify patients post-implant with a sensitivity of 91% and a specificity of 86% in discrimination between post-implant group and healthy controls.
Title: Altered mitochondrial expression genes in patients receiving right ventricular apical pacing.
Fanconi anemia complementation group A mutants show defective respiration through Complex I, diminished ATP production and metabolic sufferance with an increased AMP/ATP ratio.
Title: Mitochondrial respiratory chain Complex I defects in Fanconi anemia complementation group A.
Heterozygous mutation in the X chromosomal NDUFA1 gene in a girl with complex I deficiency
Title: Heterozygous mutation in the X chromosomal NDUFA1 gene in a girl with complex I deficiency.
Mutations in the NDUFA1 gene is linked to a delayed mitochondrial network recovery in OXPHOS disorders.
Title: Mitochondrial bioenergetics and dynamics interplay in complex I-deficient fibroblasts.
hypothesize that the novel G32R mutation in NDUFA1 is causing complex I deficiency either by itself or in synergy with additional mtDNA variants
Title: A novel NDUFA1 mutation leads to a progressive mitochondrial complex I-specific neurodegenerative disease.
Observational study of gene-disease association. (HuGE Navigator)
Title: Association study between single-nucleotide polymorphisms in 199 drug-related genes and commonly measured quantitative traits of 752 healthy Japanese subjects.
Oxidative stress and partial deficiencies of mitochondrial complex I are key factors in the pathogenesis of Parkinson's disease. (REVIEW)
Title: Initiation of neuronal damage by complex I deficiency and oxidative stress in Parkinson's disease.
A family-based association study finds that the NDUFA1 gene is unlikely to harbor a major visual loss susceptibility locus for Leber hereditary optic neuropathy.
Title: NDUFA-1 is not a nuclear modifier gene in Leber hereditary optic neuropathy.

Submit: New GeneRIF Correction See all GeneRIFs (13)

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

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

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

SHGC-57117 (e-PCR)
- UniSTS:47130

RH77990 (e-PCR)
- UniSTS:22339

RH47820 (e-PCR)
- UniSTS:56150

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
located_in mitochondrial membrane	IDA Inferred from Direct Assay more info	PubMed
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 mitochondrion	IDA Inferred from Direct Assay more info	PubMed

General protein information

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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

EC 1.6.99.3

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

NG_009381.1 RefSeqGene

Range

5062..9892

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_004541.4 → NP_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:2 → 56

MWFE; NADH-ubiquinone oxidoreductase MWFE subunit