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NDUFAF7 NADH:ubiquinone oxidoreductase complex assembly factor 7 [ Homo sapiens (human) ]

Gene ID: 55471, updated on 27-Nov-2024

Summary

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Official Symbol
NDUFAF7provided by HGNC
Official Full Name
NADH:ubiquinone oxidoreductase complex assembly factor 7provided by HGNC
Primary source
HGNC:HGNC:28816
See related
Ensembl:ENSG00000003509 MIM:615898; AllianceGenome:HGNC:28816
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
MidA; C2orf56; PRO1853
Summary
This gene encodes an assembly factor protein which helps in the assembly and stabilization of Complex I, a large multi-subunit enzyme in the mitochondrial respiratory chain. Complex I is involved in several physiological activities in the cell, including metabolite transport and ATP synthesis. The encoded protein is a methyltransferase which methylates Arg85 of a subunit of Complex I in the early stages of its assembly. A pseudogene related to this gene is located on chromosome 8. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2016]
Expression
Ubiquitous expression in testis (RPKM 15.9), fat (RPKM 9.7) and 25 other tissues See more
Orthologs
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Genomic context

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See NDUFAF7 in Genome Data Viewer
Location:
2p22.2
Exon count:
14
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (37231658..37271365)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (37238699..37278374)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (37458801..37498508)

Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene sulfotransferase family 6B member 1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11355 Neighboring gene ribosomal protein L31 pseudogene 16 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:37431745-37432548 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:37432549-37433353 Neighboring gene CEBPZ opposite strand Neighboring gene MED14-independent group 3 enhancer GRCh37_chr2:37441863-37443062 Neighboring gene CCAAT enhancer binding protein zeta Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr2:37453022-37453626 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr2:37458084-37459283 Neighboring gene protein kinase D3 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15582 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11356 Neighboring gene PRKD3 divergent transcript Neighboring gene RNA, U6 small nuclear 939, 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. A three-dimensional topology of complex I inferred from evolutionary correlations. Kensche PR, et al. BMC Struct Biol, 2012 Aug 3. PMID 22857522, Free PMC Article
  2. A Novel Potentially Causative Variant of NDUFAF7 Revealed by Mutation Screening in a Chinese Family With Pathologic Myopia. Wang B, et al. Invest Ophthalmol Vis Sci, 2017 Aug 1. PMID 28837730
  3. NDUFAF7 methylates arginine 85 in the NDUFS2 subunit of human complex I. Rhein VF, et al. J Biol Chem, 2013 Nov 15. PMID 24089531, Free PMC Article
  4. The arginine methyltransferase NDUFAF7 is essential for complex I assembly and early vertebrate embryogenesis. Zurita Rendón O, et al. Hum Mol Genet, 2014 Oct 1. PMID 24838397, Free PMC Article
  5. A genome-wide association study identifies multiple susceptibility loci for chronic lymphocytic leukemia. Speedy HE, et al. Nat Genet, 2014 Jan. PMID 24292274

See all (29) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. We propose that the heterozygous mutation (c.798C>G) in NDUFAF7 may contribute to the pathogenesis of pathologic myopia, possibly by interfering with the phototransduction cascade. Mitochondrial dysfunction during eye development may lead to pathologic myopia.
    Title: A Novel Potentially Causative Variant of NDUFAF7 Revealed by Mutation Screening in a Chinese Family With Pathologic Myopia.
  2. NDUFAF7 functions to methylate NDUFS2 after it assembles into a complex I, stabilizing an early intermediate in the assembly pathway, and that this function is essential for normal vertebrate development.
    Title: The arginine methyltransferase NDUFAF7 is essential for complex I assembly and early vertebrate embryogenesis.
  3. NDUFAF7 methylates arginine 85 in the NDUFS2 subunit of human complex I.
    Title: NDUFAF7 methylates arginine 85 in the NDUFS2 subunit of human complex I.
  4. Observational study of gene-disease association. (HuGE Navigator)
    Title: Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.
  5. a role for MidA in complex I assembly or stability
    Title: MidA is a putative methyltransferase that is required for mitochondrial complex I function.
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

EBI GWAS Catalog

Description
A genome-wide association study identifies multiple susceptibility loci for chronic lymphocytic leukemia.
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 enzyme binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables histone H2AQ104 methyltransferase activity IEA
Inferred from Electronic Annotation
more info
  
enables histone H3K37 methyltransferase activity IEA
Inferred from Electronic Annotation
more info
  
enables histone H3K56 methyltransferase activity IEA
Inferred from Electronic Annotation
more info
  
enables histone H3R17 methyltransferase activity IEA
Inferred from Electronic Annotation
more info
  
enables histone H3R2 methyltransferase activity IEA
Inferred from Electronic Annotation
more info
  
enables histone H3R26 methyltransferase activity IEA
Inferred from Electronic Annotation
more info
  
enables histone H3R8 methyltransferase activity IEA
Inferred from Electronic Annotation
more info
  
enables histone H4K12 methyltransferase activity IEA
Inferred from Electronic Annotation
more info
  
enables histone H4R3 methyltransferase activity IEA
Inferred from Electronic Annotation
more info
  
enables histone arginine N-methyltransferase activity IEA
Inferred from Electronic Annotation
more info
  
enables methyltransferase activity NAS
Non-traceable Author Statement
more info
 PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables protein-arginine omega-N symmetric methyltransferase activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables protein-arginine omega-N symmetric methyltransferase activity IMP
Inferred from Mutant Phenotype
more info
 PubMed 
Process Evidence Code Pubs
involved_in chromatin remodeling IEA
Inferred from Electronic Annotation
more info
  
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 peptidyl-arginine methylation, to symmetrical-dimethyl arginine IMP
Inferred from Mutant Phenotype
more info
 PubMed 
Component Evidence Code Pubs
located_in extracellular space HDA PubMed 
located_in mitochondrial matrix TAS
Traceable Author Statement
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
protein arginine methyltransferase NDUFAF7, mitochondrial
Names
NADH dehydrogenase (ubiquinone) complex I, assembly factor 7
NADH dehydrogenase [ubiquinone] complex I, assembly factor 7
mitochondrial dysfunction protein A homolog
protein midA homolog, mitochondrial
NP_001077415.1
NP_001336953.1
NP_001336954.1
NP_001336956.1
NP_653337.1
XP_005264467.1
XP_024308745.1
XP_054198810.1
XP_054198811.1

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_053078.1 RefSeqGene

    Range
    5028..22530
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001083946.2 → NP_001077415.1  protein arginine methyltransferase NDUFAF7, mitochondrial isoform 3

    See identical proteins and their annotated locations for NP_001077415.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) uses an alternate in-frame splice site in the central coding region and lacks two alternate in-frame exons, compared to variant 1. The resulting isoform (3) is shorter than isoform 1.
    Source sequence(s)
    BM172474, BX538031
    Consensus CDS
    CCDS42673.1
    UniProtKB/TrEMBL
    B4DXV9
    Related
    ENSP00000337431.6, ENST00000336237.10
    Conserved Domains (2) summary
    COG1565
    Location:51 → 309
    MidA; SAM-dependent methyltransferase, MidA family [General function prediction only]
    pfam02636
    Location:73 → 256
    Methyltransf_28; Putative S-adenosyl-L-methionine-dependent methyltransferase

  2. NM_001350024.2 → NP_001336953.1  protein arginine methyltransferase NDUFAF7, mitochondrial isoform 4

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) encodes isoform 4.
    Source sequence(s)
    AC007390
    UniProtKB/TrEMBL
    B4DXV9
    Conserved Domains (1) summary
    pfam02636
    Location:100 → 344
    Methyltransf_28; Putative S-adenosyl-L-methionine-dependent methyltransferase

  3. NM_001350025.2 → NP_001336954.1  protein arginine methyltransferase NDUFAF7, mitochondrial isoform 5

    Status: REVIEWED

    Description
    Transcript Variant: This variant (5) encodes isoform 5.
    Source sequence(s)
    AC007390
    UniProtKB/TrEMBL
    B4DXV9
    Conserved Domains (1) summary
    pfam02636
    Location:73 → 317
    Methyltransf_28; Putative S-adenosyl-L-methionine-dependent methyltransferase

  4. NM_001350027.2 → NP_001336956.1  protein arginine methyltransferase NDUFAF7, mitochondrial isoform 6

    Status: REVIEWED

    Description
    Transcript Variant: This variant (6) encodes isoform 6.
    Source sequence(s)
    AC007390, AK299015
    UniProtKB/TrEMBL
    B4DQY3, B4DXV9
    Conserved Domains (1) summary
    cl17173
    Location:51 → 336
    AdoMet_MTases; S-adenosylmethionine-dependent methyltransferases (SAM or AdoMet-MTase), class I; AdoMet-MTases are enzymes that use S-adenosyl-L-methionine (SAM or AdoMet) as a substrate for methyltransfer, creating the product S-adenosyl-L-homocysteine (AdoHcy). ...

  5. NM_144736.5 → NP_653337.1  protein arginine methyltransferase NDUFAF7, mitochondrial isoform 1

    See identical proteins and their annotated locations for NP_653337.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
    Source sequence(s)
    BC004548, BM172474, BX538031
    Consensus CDS
    CCDS1788.1
    UniProtKB/Swiss-Prot
    Q7L592, Q7Z399, Q9P1G3
    UniProtKB/TrEMBL
    B4DXV9
    Related
    ENSP00000002125.4, ENST00000002125.9
    Conserved Domains (2) summary
    COG1565
    Location:51 → 407
    MidA; SAM-dependent methyltransferase, MidA family [General function prediction only]
    pfam02636
    Location:100 → 354
    Methyltransf_28; Putative S-adenosyl-L-methionine-dependent methyltransferase

RNA

  1. NR_146401.2 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AC007390

  2. NR_146402.2 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AC007390

  3. NR_146403.2 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AC007390
    Related
    ENST00000474154.5

  4. NR_146404.2 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AC007390

  5. NR_146405.2 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AC007390

  6. NR_146406.2 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AC007390

  7. NR_146407.2 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AC007390

  8. NR_146408.2 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AC007390

  9. NR_146409.3 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AC007390

  10. NR_146410.2 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AC007390

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_000002.12 Reference GRCh38.p14 Primary Assembly

    Range
    37231658..37271365
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005264410.3 → XP_005264467.1  protein arginine methyltransferase NDUFAF7, mitochondrial isoform X1

    UniProtKB/TrEMBL
    B4DXV9
    Conserved Domains (2) summary
    COG1565
    Location:9 → 365
    MidA; SAM-dependent methyltransferase, MidA family [General function prediction only]
    pfam02636
    Location:58 → 312
    Methyltransf_28; Putative S-adenosyl-L-methionine-dependent methyltransferase

  2. XM_024452977.2 → XP_024308745.1  protein arginine methyltransferase NDUFAF7, mitochondrial isoform X2

    Conserved Domains (1) summary
    COG1565
    Location:9 → 294
    MidA; SAM-dependent methyltransferase, MidA family [General function prediction only]

RNA

  1. XR_007077548.1 RNA Sequence

  2. XR_007077549.1 RNA Sequence

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060926.1 Alternate T2T-CHM13v2.0

    Range
    37238699..37278374
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054342835.1 → XP_054198810.1  protein arginine methyltransferase NDUFAF7, mitochondrial isoform X1

  2. XM_054342836.1 → XP_054198811.1  protein arginine methyltransferase NDUFAF7, mitochondrial isoform X2

RNA

  1. XR_008486444.1 RNA Sequence

  2. XR_008486445.1 RNA Sequence

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_018607.5: Suppressed sequence

    Description
    NM_018607.5: This RefSeq was permanently suppressed because it is a nonsense-mediated mRNA decay (NMD) candidate.
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q7L592.1 GenPept UniProtKB/Swiss-Prot:Q7L592

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