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

    Gene ID: 135154, updated on 5-Mar-2024

    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 MIM:619198; AllianceGenome:HGNC:20957
    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
    Summary
    Predicted to enable enzyme activator activity. Involved in cellular respiration and mitochondrial respiratory chain complex II assembly. Predicted to be located in mitochondrial matrix. Predicted to be active in mitochondrion. [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Ubiquitous expression in fat (RPKM 12.9), brain (RPKM 11.1) and 25 other tissues See more
    Orthologs
    NEW
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    Genomic context

    See SDHAF4 in Genome Data Viewer
    Location:
    6q13
    Exon count:
    4
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 6 NC_000006.12 (70566930..70598428)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 6 NC_060930.1 (71747474..71770117)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (71276633..71299272)

    Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17317 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17318 Neighboring gene FAM135A antisense RNA 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24731 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24732 Neighboring gene family with sequence similarity 135 member A Neighboring gene RNA, U7 small nuclear 48 pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17319 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr6:71310594-71311158 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:71318535-71319052 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:71319053-71319569 Neighboring gene ReSE screen-validated silencer GRCh37_chr6:71326667-71326868 Neighboring gene spermine synthase pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24733 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

    EBI GWAS Catalog

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

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • MGC104225

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables enzyme activator activity ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    enables molecular_function ND
    No biological Data available
    more info
     
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in cellular respiration IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    involved_in innate immune response IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in mitochondrial respiratory chain complex II assembly IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in mitochondrial respiratory chain complex II assembly IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    Component Evidence Code Pubs
    is_active_in cellular_component ND
    No biological Data available
    more info
     
    located_in mitochondrial matrix IEA
    Inferred from Electronic Annotation
    more info
     
    is_active_in mitochondrion IBA
    Inferred from Biological aspect of Ancestor
    more info
     

    General protein information

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

    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.

    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
      E1P532, Q5VUM1
      UniProtKB/TrEMBL
      I6L976
      Related
      ENSP00000359505.3, ENST00000370474.4
      Conserved Domains (1) summary
      pfam07896
      Location:66108
      DUF1674; Protein of unknown function (DUF1674)

    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_000006.12 Reference GRCh38.p14 Primary Assembly

      Range
      70566930..70598428
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047418210.1XP_047274166.1  succinate dehydrogenase assembly factor 4, mitochondrial isoform X1

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060930.1 Alternate T2T-CHM13v2.0

      Range
      71747474..71770117
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)