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NDUFAF1 NADH:ubiquinone oxidoreductase complex assembly factor 1 [ Homo sapiens (human) ]

Gene ID: 51103, updated on 12-Aug-2018

Summary

Official Symbol
NDUFAF1provided by HGNC
Official Full Name
NADH:ubiquinone oxidoreductase complex assembly factor 1provided by HGNC
Primary source
HGNC:HGNC:18828
See related
Ensembl:ENSG00000137806 MIM:606934; Vega:OTTHUMG00000130340
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
CGI65; CIA30; CGI-65
Summary
This gene encodes a complex I assembly factor protein. Complex I (NADH-ubiquinone oxidoreductase) catalyzes the transfer of electrons from NADH to ubiquinone (coenzyme Q) in the first step of the mitochondrial respiratory chain, resulting in the translocation of protons across the inner mitochondrial membrane. The encoded protein is required for assembly of complex I, and mutations in this gene are a cause of mitochondrial complex I deficiency. Alternatively spliced transcript variants have been observed for this gene, and a pseudogene of this gene is located on the long arm of chromosome 19. [provided by RefSeq, Dec 2011]
Expression
Ubiquitous expression in adrenal (RPKM 10.5), testis (RPKM 9.8) and 25 other tissues See more
Orthologs

Genomic context

See NDUFAF1 in Genome Data Viewer
Location:
15q15.1
Exon count:
6
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 15 NC_000015.10 (41387349..41402501, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 15 NC_000015.9 (41679547..41694658, complement)

Chromosome 15 - NC_000015.10Genomic Context describing neighboring genes Neighboring gene OIP5 antisense RNA 1 Neighboring gene Opa interacting protein 5 Neighboring gene nucleolar and spindle associated protein 1 Neighboring gene RTF1 homolog, Paf1/RNA polymerase II complex component Neighboring gene RNA, U6 small nuclear 1169, pseudogene Neighboring gene uncharacterized LOC105370790

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 Jun 15 11:32:44 2016

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Mitochondrial complex I deficiency
MedGen: C1838979 OMIM: 252010 GeneReviews: Not available
Compare labs

NHGRI GWAS Catalog

Description
Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease.
NHGRI GWA Catalog

Pathways from BioSystems

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
unfolded protein binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
unfolded protein binding NAS
Non-traceable Author Statement
more info
PubMed 
Process Evidence Code Pubs
mitochondrial electron transport, NADH to ubiquinone IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
mitochondrial electron transport, NADH to ubiquinone NAS
Non-traceable Author Statement
more info
PubMed 
mitochondrial respiratory chain complex I assembly IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
mitochondrial respiratory chain complex I assembly TAS
Traceable Author Statement
more info
 
protein-containing complex assembly NAS
Non-traceable Author Statement
more info
PubMed 
Component Evidence Code Pubs
cytosol IDA
Inferred from Direct Assay
more info
 
mitochondrial inner membrane TAS
Traceable Author Statement
more info
 
mitochondrial respiratory chain complex I IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
mitochondrial respiratory chain complex I NAS
Non-traceable Author Statement
more info
PubMed 
mitochondrion IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 

General protein information

Preferred Names
complex I intermediate-associated protein 30, mitochondrial
Names
NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, assembly factor 1
NADH dehydrogenase (ubiquinone) complex I, assembly factor 1
NADH-ubiquinone oxidoreductase 1 alpha subcomplex, assembly factor 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_031924.1 RefSeqGene

    Range
    5001..20112
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_016013.3NP_057097.2  complex I intermediate-associated protein 30, mitochondrial precursor

    See identical proteins and their annotated locations for NP_057097.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the predominant transcript and is protein-coding.
    Source sequence(s)
    AK309889, BC000780, BG192055
    Consensus CDS
    CCDS10075.1
    UniProtKB/Swiss-Prot
    Q9Y375
    UniProtKB/TrEMBL
    A0A024R9L0
    Related
    ENSP00000260361.4, OTTHUMP00000160860, ENST00000260361.8, OTTHUMT00000252692
    Conserved Domains (2) summary
    pfam08547
    Location:125298
    CIA30; Complex I intermediate-associated protein 30 (CIA30)
    cl17169
    Location:14101
    RRM_SF; RNA recognition motif (RRM) superfamily

RNA

  1. NR_045620.1 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) contains an alternate internal exon compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AI911511, AK309889, AK310983, BG192055
    Related
    ENST00000559127.5

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000015.10 Reference GRCh38.p12 Primary Assembly

    Range
    41387349..41402501 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_024449945.1XP_024305713.1  complex I intermediate-associated protein 30, mitochondrial isoform X2

    Conserved Domains (2) summary
    pfam08547
    Location:125278
    CIA30; Complex I intermediate-associated protein 30 (CIA30)
    cl17169
    Location:14101
    RRM_SF; RNA recognition motif (RRM) superfamily
  2. XM_006720555.3XP_006720618.1  complex I intermediate-associated protein 30, mitochondrial isoform X1

    See identical proteins and their annotated locations for XP_006720618.1

    UniProtKB/Swiss-Prot
    Q9Y375
    UniProtKB/TrEMBL
    A0A024R9L0
    Conserved Domains (2) summary
    pfam08547
    Location:125298
    CIA30; Complex I intermediate-associated protein 30 (CIA30)
    cl17169
    Location:14101
    RRM_SF; RNA recognition motif (RRM) superfamily
  3. XM_011521659.3XP_011519961.1  complex I intermediate-associated protein 30, mitochondrial isoform X2

    Conserved Domains (2) summary
    pfam08547
    Location:125278
    CIA30; Complex I intermediate-associated protein 30 (CIA30)
    cl17169
    Location:14101
    RRM_SF; RNA recognition motif (RRM) superfamily
  4. XM_011521658.1XP_011519960.1  complex I intermediate-associated protein 30, mitochondrial isoform X1

    See identical proteins and their annotated locations for XP_011519960.1

    UniProtKB/Swiss-Prot
    Q9Y375
    UniProtKB/TrEMBL
    A0A024R9L0
    Conserved Domains (2) summary
    pfam08547
    Location:125298
    CIA30; Complex I intermediate-associated protein 30 (CIA30)
    cl17169
    Location:14101
    RRM_SF; RNA recognition motif (RRM) superfamily
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