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

    Gene ID: 55471, updated on 3-Apr-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
    mouse all
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    Genomic context

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    Location:
    2p22.2
    Exon count:
    14
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (37231658..37271365)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (37238699..37278374)
    105.20220307 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 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
    2. 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
    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 (28) 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)

    Genotypes

    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 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 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
    		  
    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_2023_10

    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

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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