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

Gene ID: 51103, updated on 27-Nov-2024

Summary

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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; AllianceGenome:HGNC:18828
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; MC1DN11
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
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Genomic context

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See NDUFAF1 in Genome Data Viewer
Location:
15q15.1
Exon count:
6
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 15 NC_000015.10 (41387353..41403026, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 15 NC_060939.1 (39193517..39209187, complement)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 15 NC_000015.9 (41679551..41694694, complement)

Chromosome 15 - NC_000015.10Genomic Context describing neighboring genes Neighboring gene OIP5 antisense RNA 1 Neighboring gene Opa interacting protein 5 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9279 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:41628937-41629558 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:41629559-41630180 Neighboring gene nucleolar and spindle associated protein 1 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr15:41675757-41676295 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9280 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6357 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9281 Neighboring gene H3K27ac hESC enhancer GRCh37_chr15:41723973-41724473 Neighboring gene RTF1 homolog, Paf1/RNA polymerase II complex component Neighboring gene RNA, U6 small nuclear 1169, pseudogene Neighboring gene uncharacterized LOC105370790 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9282

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. Leukodystrophy associated with mitochondrial complex I deficiency due to a novel mutation in the NDUFAF1 gene. Wu L, et al. Mitochondrial DNA A DNA Mapp Seq Anal, 2016. PMID 24963768
  2. Involvement of two novel chaperones in the assembly of mitochondrial NADH:Ubiquinone oxidoreductase (complex I). Küffner R, et al. J Mol Biol, 1998 Oct 23. PMID 9769214
  3. Human CIA30 is involved in the early assembly of mitochondrial complex I and mutations in its gene cause disease. Dunning CJ, et al. EMBO J, 2007 Jul 11. PMID 17557076, Free PMC Article
  4. Mutations in the mitochondrial complex I assembly factor NDUFAF1 cause fatal infantile hypertrophic cardiomyopathy. Fassone E, et al. J Med Genet, 2011 Oct. PMID 21931170
  5. Identification of NDUFAF1 in mediating K-Ras induced mitochondrial dysfunction by a proteomic screening approach. Wang P, et al. Oncotarget, 2015 Feb 28. PMID 25714130, Free PMC Article

See all (44) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. a case of leukodystrophy associated with mitochondrial complex I deficiency due to a novel mutation in the NDUFAF1 gene.
    Title: Leukodystrophy associated with mitochondrial complex I deficiency due to a novel mutation in the NDUFAF1 gene.
  2. oncogenic K-Ras is able to induce significant alterations in mitochondrial protein expression, and identified NDUFAF1 as an important molecule whose low expression contributes to mitochondrial dysfunction induced by K-Ras.
    Title: Identification of NDUFAF1 in mediating K-Ras induced mitochondrial dysfunction by a proteomic screening approach.
  3. Observational study of gene-disease association. (HuGE Navigator)
    Title: Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.
  4. CIA30 is a crucial component in the early assembly of complex I and mutations in its gene can cause mitochondrial disease
    Title: Human CIA30 is involved in the early assembly of mitochondrial complex I and mutations in its gene cause disease.
  5. Study shows a mitochondrial function for Ecsit in the assembly of mitochondrial complex I, an N-terminal targeting signal directs Ecsit to mitochondria, where it interacts with assembly chaperone NDUFAF1.
    Title: Cytosolic signaling protein Ecsit also localizes to mitochondria where it interacts with chaperone NDUFAF1 and functions in complex I assembly.
  6. the involvement of NDUFAF1 in the assembly process could be indirect rather than direct via the binding to assembly intermediates
    Title: Investigation of the complex I assembly chaperones B17.2L and NDUFAF1 in a cohort of CI deficient patients.
  7. NDUFAF1 is an important protein for the assembly/stability of complex I (NADH:ubiquinone oxidoreductase).
    Title: Human mitochondrial complex I assembly is mediated by NDUFAF1.
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

Associated conditions

Description Tests
Mitochondrial complex 1 deficiency, nuclear type 11
MedGen: C4748769 OMIM: 618234 GeneReviews: Not available
Compare labs

EBI GWAS Catalog

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

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 protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables unfolded protein binding IBA
Inferred from Biological aspect of Ancestor
more info
  
enables unfolded protein binding NAS
Non-traceable Author Statement
more info
 PubMed 
Process Evidence Code Pubs
involved_in chaperone-mediated protein complex assembly IDA
Inferred from Direct Assay
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 respiratory chain complex I assembly IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in mitochondrial respiratory chain complex I assembly IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in mitochondrial respiratory chain complex I assembly NAS
Non-traceable Author Statement
more info
 PubMed 
involved_in protein-containing complex assembly NAS
Non-traceable Author Statement
more info
 PubMed 
Component Evidence Code Pubs
located_in cytosol IDA
Inferred from Direct Assay
more info
  
located_in mitochondrial inner membrane NAS
Non-traceable Author Statement
more info
 PubMed 
located_in mitochondrial inner membrane TAS
Traceable Author Statement
more info
  
located_in mitochondrial matrix IEA
Inferred from Electronic Annotation
more info
  
located_in mitochondrion HTP PubMed 
is_active_in mitochondrion IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in mitochondrion IDA
Inferred from Direct Assay
more info
 PubMed 

General protein information

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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)

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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_031924.1 RefSeqGene

    Range
    4965..20108
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_016013.4 → NP_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)
    AC087721, AK309889, BC000780
    Consensus CDS
    CCDS10075.1
    UniProtKB/Swiss-Prot
    Q9BVZ5, Q9Y375
    UniProtKB/TrEMBL
    A0A7I2V4I7
    Related
    ENSP00000260361.4, ENST00000260361.9
    Conserved Domains (2) summary
    pfam08547
    Location:125 → 298
    CIA30; Complex I intermediate-associated protein 30 (CIA30)
    cl17169
    Location:14 → 101
    RRM_SF; RNA recognition motif (RRM) superfamily

RNA

  1. NR_045620.2 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)
    AC087721, AI911511, AK309889, AK310983
    Related
    ENST00000559127.5

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_000015.10 Reference GRCh38.p14 Primary Assembly

    Range
    41387353..41403026 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047432637.1 → XP_047288593.1  complex I intermediate-associated protein 30, mitochondrial isoform X1

    UniProtKB/Swiss-Prot
    Q9BVZ5, Q9Y375

  2. XM_024449945.2 → XP_024305713.1  complex I intermediate-associated protein 30, mitochondrial isoform X2

    UniProtKB/TrEMBL
    A0A7I2V4I7
    Related
    ENSP00000504040.1, ENST00000676533.1
    Conserved Domains (2) summary
    pfam08547
    Location:125 → 278
    CIA30; Complex I intermediate-associated protein 30 (CIA30)
    cl17169
    Location:14 → 101
    RRM_SF; RNA recognition motif (RRM) superfamily

  3. XM_006720555.4 → XP_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
    Q9BVZ5, Q9Y375
    UniProtKB/TrEMBL
    A0A7I2V4I7
    Related
    ENSP00000453944.2, ENST00000560978.2
    Conserved Domains (2) summary
    pfam08547
    Location:125 → 298
    CIA30; Complex I intermediate-associated protein 30 (CIA30)
    cl17169
    Location:14 → 101
    RRM_SF; RNA recognition motif (RRM) superfamily

  4. XM_047432638.1 → XP_047288594.1  complex I intermediate-associated protein 30, mitochondrial isoform X2

  5. XM_011521658.2 → XP_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
    Q9BVZ5, Q9Y375
    UniProtKB/TrEMBL
    A0A7I2V4I7
    Conserved Domains (2) summary
    pfam08547
    Location:125 → 298
    CIA30; Complex I intermediate-associated protein 30 (CIA30)
    cl17169
    Location:14 → 101
    RRM_SF; RNA recognition motif (RRM) superfamily

  6. XM_011521659.4 → XP_011519961.1  complex I intermediate-associated protein 30, mitochondrial isoform X2

    UniProtKB/TrEMBL
    A0A7I2V4I7
    Related
    ENSP00000504295.1, ENST00000679094.1
    Conserved Domains (2) summary
    pfam08547
    Location:125 → 278
    CIA30; Complex I intermediate-associated protein 30 (CIA30)
    cl17169
    Location:14 → 101
    RRM_SF; RNA recognition motif (RRM) superfamily

RNA

  1. XR_007064450.1 RNA Sequence

  2. XR_007064451.1 RNA Sequence

  3. XR_007064449.1 RNA Sequence

    Related
    ENST00000678745.1

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060939.1 Alternate T2T-CHM13v2.0

    Range
    39193517..39209187 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054378139.1 → XP_054234114.1  complex I intermediate-associated protein 30, mitochondrial isoform X1

    UniProtKB/Swiss-Prot
    Q9BVZ5, Q9Y375

  2. XM_054378138.1 → XP_054234113.1  complex I intermediate-associated protein 30, mitochondrial isoform X1

    UniProtKB/Swiss-Prot
    Q9BVZ5, Q9Y375

  3. XM_054378142.1 → XP_054234117.1  complex I intermediate-associated protein 30, mitochondrial isoform X2

  4. XM_054378141.1 → XP_054234116.1  complex I intermediate-associated protein 30, mitochondrial isoform X2

  5. XM_054378140.1 → XP_054234115.1  complex I intermediate-associated protein 30, mitochondrial isoform X1

    UniProtKB/Swiss-Prot
    Q9BVZ5, Q9Y375

  6. XM_054378143.1 → XP_054234118.1  complex I intermediate-associated protein 30, mitochondrial isoform X2

RNA

  1. XR_008488956.1 RNA Sequence

  2. XR_008488955.1 RNA Sequence

  3. XR_008488957.1 RNA Sequence

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q9Y375.2 GenPept UniProtKB/Swiss-Prot:Q9Y375

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