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

Gene ID: 55471, updated on 24-Nov-2020

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
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

Genomic context

See NDUFAF7 in Genome Data Viewer
Location:
2p22.2
Exon count:
14
Annotation release Status Assembly Chr Location
109.20201120 current GRCh38.p13 (GCF_000001405.39) 2 NC_000002.12 (37231658..37271365)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (37458774..37476303)

Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene sulfotransferase family 6B member 1 Neighboring gene ribosomal protein L31 pseudogene 16 Neighboring gene CEBPZ opposite strand Neighboring gene CCAAT enhancer binding protein zeta Neighboring gene protein kinase D3 Neighboring gene uncharacterized LOC101929542 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

Associated conditions

Description Tests
A genome-wide association study identifies multiple susceptibility loci for chronic lymphocytic leukemia.
GeneReviews: Not available

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enzyme binding IPI
Inferred from Physical Interaction
more info
PubMed 
methyltransferase activity NAS
Non-traceable Author Statement
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein-arginine omega-N symmetric methyltransferase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
protein-arginine omega-N symmetric methyltransferase activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
Component Evidence Code Pubs
extracellular space HDA PubMed 
mitochondrial matrix TAS
Traceable Author Statement
more info
 
mitochondrion IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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_011531258.1
XP_024308745.1

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_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/Swiss-Prot
    Q7L592
    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
    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
    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
    Conserved Domains (1) summary
    COG1565
    Location:51336
    MidA; SAM-dependent methyltransferase, MidA family [General function prediction only]
  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
    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: Homo sapiens Updated Annotation Release 109.20201120

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000002.12 Reference GRCh38.p13 Primary Assembly

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

mRNA and Protein(s)

  1. XM_011532956.1XP_011531258.1  protein arginine methyltransferase NDUFAF7, mitochondrial isoform X3

    Conserved Domains (1) summary
    pfam02636
    Location:4169
    Methyltransf_28; Putative S-adenosyl-L-methionine-dependent methyltransferase
  2. XM_005264410.2XP_005264467.1  protein arginine methyltransferase NDUFAF7, mitochondrial isoform X1

    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
  3. XM_024452977.1XP_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_002959313.1 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.
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