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

    Gene ID: 55471, updated on 3-Dec-2024

    Summary

    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
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    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

    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 Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    EBI GWAS Catalog

    Description
    A genome-wide association study identifies multiple susceptibility loci for chronic lymphocytic leukemia.
    EBI GWAS Catalog

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    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 
    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

    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)

    NEW Try the new Transcript table

    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_001083946.2NP_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:51309
      MidA; SAM-dependent methyltransferase, MidA family [General function prediction only]
      pfam02636
      Location:73256
      Methyltransf_28; Putative S-adenosyl-L-methionine-dependent methyltransferase
    2. NM_001350024.2NP_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:100344
      Methyltransf_28; Putative S-adenosyl-L-methionine-dependent methyltransferase
    3. NM_001350025.2NP_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:73317
      Methyltransf_28; Putative S-adenosyl-L-methionine-dependent methyltransferase
    4. NM_001350027.2NP_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:51336
      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_144736.5NP_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:51407
      MidA; SAM-dependent methyltransferase, MidA family [General function prediction only]
      pfam02636
      Location:100354
      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_005264410.3XP_005264467.1  protein arginine methyltransferase NDUFAF7, mitochondrial isoform X1

      UniProtKB/TrEMBL
      B4DXV9
      Conserved Domains (2) summary
      COG1565
      Location:9365
      MidA; SAM-dependent methyltransferase, MidA family [General function prediction only]
      pfam02636
      Location:58312
      Methyltransf_28; Putative S-adenosyl-L-methionine-dependent methyltransferase
    2. XM_024452977.2XP_024308745.1  protein arginine methyltransferase NDUFAF7, mitochondrial isoform X2

      Conserved Domains (1) summary
      COG1565
      Location:9294
      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_054342835.1XP_054198810.1  protein arginine methyltransferase NDUFAF7, mitochondrial isoform X1

      UniProtKB/TrEMBL
      B4DXV9
    2. XM_054342836.1XP_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.