Format

Send to:

Choose Destination

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

Gene ID: 54977, updated on 21-Dec-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 (anemia, sideroblastic, 2, pyridoxine-refractory). A related pseudogene is found on chromosome 1. [provided by RefSeq, Aug 2017]
Expression
Ubiquitous expression in thyroid (RPKM 14.1), bone marrow (RPKM 11.1) and 25 other tissues See more
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
 
glycine import into mitochondrion IEA
Inferred from Electronic Annotation
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
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..19028
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001354798.1NP_001341727.1  solute carrier family 25 member 38 isoform 2

    Status: REVIEWED

    Source sequence(s)
    AC099332, AC104850
    Conserved Domains (1) summary
    pfam00153
    Location:26117
    Mito_carr; Mitochondrial carrier protein
  2. NM_017875.3NP_060345.2  solute carrier family 25 member 38 isoform 1

    See identical proteins and their annotated locations for NP_060345.2

    Status: REVIEWED

    Source sequence(s)
    AA760706, AK000558, AK225388, DB113609
    Consensus CDS
    CCDS2685.1
    UniProtKB/Swiss-Prot
    Q96DW6
    UniProtKB/TrEMBL
    A0A024R2L5
    Related
    ENSP00000273158.3, OTTHUMP00000161963, ENST00000273158.8
    Conserved Domains (1) summary
    pfam00153
    Location:26117
    Mito_carr; Mitochondrial carrier protein

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108

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

    Conserved Domains (1) summary
    pfam00153
    Location:26117
    Mito_carr; Mitochondrial carrier protein
  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)
Support Center