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    SDHAF4 succinate dehydrogenase complex assembly factor 4 [ Homo sapiens (human) ]

    Gene ID: 135154, updated on 17-Jun-2019

    Summary

    Official Symbol
    SDHAF4provided by HGNC
    Official Full Name
    succinate dehydrogenase complex assembly factor 4provided by HGNC
    Primary source
    HGNC:HGNC:20957
    See related
    Ensembl:ENSG00000154079
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    Sdh8; C6orf57
    Expression
    Ubiquitous expression in fat (RPKM 12.9), brain (RPKM 11.1) and 25 other tissues See more
    Orthologs

    Genomic context

    See SDHAF4 in Genome Data Viewer
    Location:
    6q13
    Exon count:
    3
    Annotation release Status Assembly Chr Location
    109.20190607 current GRCh38.p13 (GCF_000001405.39) 6 NC_000006.12 (70566930..70589569)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (71276625..71298606)

    Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105377849 Neighboring gene family with sequence similarity 135 member A Neighboring gene RNA, U7 small nuclear 48 pseudogene Neighboring gene spermine synthase pseudogene Neighboring gene solute carrier family 25 member 6 pseudogene 6

    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

    Phenotypes

    NHGRI GWAS Catalog

    Description
    Transferability of type 2 diabetes implicated loci in multi-ethnic cohorts from Southeast Asia.
    NHGRI GWA Catalog

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Clone Names

    • MGC104225

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    molecular_function ND
    No biological Data available
    more info
     
    contributes_to succinate dehydrogenase (ubiquinone) activity ISS
    Inferred from Sequence or Structural Similarity
    more info
    PubMed 
    Process Evidence Code Pubs
    cellular respiration IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    innate immune response IEA
    Inferred from Electronic Annotation
    more info
     
    mitochondrial respiratory chain complex II assembly IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    mitochondrial respiratory chain complex II assembly IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    neural retina development IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    Component Evidence Code Pubs
    cellular_component ND
    No biological Data available
    more info
     
    mitochondrial matrix IEA
    Inferred from Electronic Annotation
    more info
     
    mitochondrial respiratory chain complex II, succinate dehydrogenase complex (ubiquinone) ISS
    Inferred from Sequence or Structural Similarity
    more info
    PubMed 

    General protein information

    Preferred Names
    succinate dehydrogenase assembly factor 4, mitochondrial
    Names
    SDH assembly factor 4
    UPF0369 protein C6orf57

    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.

    mRNA and Protein(s)

    1. NM_145267.3NP_660310.2  succinate dehydrogenase assembly factor 4, mitochondrial precursor

      See identical proteins and their annotated locations for NP_660310.2

      Status: VALIDATED

      Source sequence(s)
      AL583856
      Consensus CDS
      CCDS4972.1
      UniProtKB/Swiss-Prot
      Q5VUM1
      Related
      ENSP00000359505.3, ENST00000370474.4
      Conserved Domains (1) summary
      pfam07896
      Location:66108
      DUF1674; Protein of unknown function (DUF1674)

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000006.12 Reference GRCh38.p13 Primary Assembly

      Range
      70566930..70589569
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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