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    SLC25A38 solute carrier family 25 member 38 [ Homo sapiens (human) ]

    Gene ID: 54977, updated on 12-Mar-2017
    Official Symbol
    SLC25A38provided by HGNC
    Official Full Name
    solute carrier family 25 member 38provided by HGNC
    Primary source
    HGNC:HGNC:26054
    See related
    Ensembl:ENSG00000144659 MIM:610819; Vega:OTTHUMG00000131289
    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
    SIDBA2
    Summary
    This gene is a member of the mitochondrial carrier family. The encoded protein is required during erythropoiesis and is important for the biosynthesis of heme. Mutations in this gene are the cause of autosomal congenital sideroblastic anemia.[provided by RefSeq, Mar 2010]
    Orthologs
    Location:
    3p22.1
    Exon count:
    9
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 3 NC_000003.12 (39383324..39397328)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (39424815..39438819)

    Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105377644 Neighboring gene eukaryotic translation elongation factor 1 alpha 1 pseudogene 24 Neighboring gene uncharacterized LOC105377037 Neighboring gene small nucleolar RNA, H/ACA box 6 Neighboring gene ribosomal protein SA Neighboring gene small nucleolar RNA, H/ACA box 62

    • 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 Jun 15 11:32:44 2016

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Clone Names

    • FLJ20551, FLJ22703

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    glycine transmembrane transporter activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    Process Evidence Code Pubs
    erythrocyte differentiation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    glycine import IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    heme biosynthetic process TAS
    Traceable Author Statement
    more info
    PubMed 
    mitochondrial transport IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    Component Evidence Code Pubs
    integral component of membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    mitochondrial inner membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    Preferred Names
    solute carrier family 25 member 38
    Names
    SLC25A38
    appoptosin

    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_016931.1 RefSeqGene

      Range
      5001..19005
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_017875.2NP_060345.2  solute carrier family 25 member 38

      See identical proteins and their annotated locations for NP_060345.2

      Status: REVIEWED

      Source sequence(s)
      AK000558, AK225388, BQ574159, DB113609
      Consensus CDS
      CCDS2685.1
      UniProtKB/Swiss-Prot
      Q96DW6
      UniProtKB/TrEMBL
      A0A024R2L5
      Related
      ENSP00000273158, OTTHUMP00000161963, ENST00000273158, OTTHUMT00000254057
      Conserved Domains (2) summary
      PTZ00168
      Location:28280
      PTZ00168; mitochondrial carrier protein; Provisional
      pfam00153
      Location:26117
      Mito_carr; Mitochondrial carrier protein

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...Open this link in a new tab

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

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000003.12 Reference GRCh38.p7 Primary Assembly

      Range
      39383324..39397328
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017006710.1XP_016862199.1  solute carrier family 25 member 38 isoform X3

    2. XM_006713214.1XP_006713277.1  solute carrier family 25 member 38 isoform X1

      See identical proteins and their annotated locations for XP_006713277.1

      Conserved Domains (2) summary
      PTZ00168
      Location:24276
      PTZ00168; mitochondrial carrier protein; Provisional
      pfam00153
      Location:22113
      Mito_carr; Mitochondrial carrier protein
    3. XM_011533869.2XP_011532171.1  solute carrier family 25 member 38 isoform X2

      See identical proteins and their annotated locations for XP_011532171.1

      Conserved Domains (2) summary
      PTZ00168
      Location:22274
      PTZ00168; mitochondrial carrier protein; Provisional
      pfam00153
      Location:20111
      Mito_carr; Mitochondrial carrier protein

    Alternate CHM1_1.1

    Genomic

    1. NC_018914.2 Alternate CHM1_1.1

      Range
      39375927..39389932
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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