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

    Gene ID: 54977, updated on 3-Apr-2024

    Summary

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    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; AllianceGenome:HGNC:26054
    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
    mouse all
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    Genomic context

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    Location:
    3p22.1
    Exon count:
    9
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (39383370..39397351)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (39396296..39410278)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (39424861..39438842)

    Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene eukaryotic translation elongation factor 1 alpha 1 pseudogene 24 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19703 Neighboring gene uncharacterized LOC105377037 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14225 Neighboring gene uncharacterized LOC105377644 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19704 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19705 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19706 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14226 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19707 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr3:39445554-39446346 Neighboring gene H3K27ac hESC enhancer GRCh37_chr3:39447932-39448723 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14228 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:39450309-39451100 Neighboring gene ribosomal protein SA Neighboring gene small nucleolar RNA, H/ACA box 6 Neighboring gene small nucleolar RNA, H/ACA box 62

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • 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

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    Related articles in PubMed

    1. SLC25A38 as a novel biomarker for metastasis and clinical outcome in uveal melanoma. Fan Z, et al. Cell Death Dis, 2022 Apr 11. PMID 35411037, Free PMC Article
    2. SLC25A38 congenital sideroblastic anemia: Phenotypes and genotypes of 31 individuals from 24 families, including 11 novel mutations, and a review of the literature. Heeney MM, et al. Hum Mutat, 2021 Nov. PMID 34298585, Free PMC Article
    3. Clinical characterization and hematopoietic stem cell transplant outcomes for congenital sideroblastic anemia caused by a novel pathogenic variant in SLC25A38. Uminski K, et al. Pediatr Blood Cancer, 2020 Oct. PMID 32790119
    4. Novel frameshift variant (c.409dupG) in SLC25A38 is a common cause of congenital sideroblastic anaemia in the Indian subcontinent. Ravindra N, et al. J Clin Pathol, 2021 Mar. PMID 32605921
    5. Novel mutations in mitochondrial carrier family gene SLC25A38, causing congenital sideroblastic anemia in Iranian families, identified by whole exome sequencing. Mehri M, et al. Blood Cells Mol Dis, 2018 Jul. PMID 29499877

    See all (25) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. SLC25A38 as a novel biomarker for metastasis and clinical outcome in uveal melanoma.
      Title: SLC25A38 as a novel biomarker for metastasis and clinical outcome in uveal melanoma.
    2. SLC25A38 congenital sideroblastic anemia: Phenotypes and genotypes of 31 individuals from 24 families, including 11 novel mutations, and a review of the literature.
      Title: SLC25A38 congenital sideroblastic anemia: Phenotypes and genotypes of 31 individuals from 24 families, including 11 novel mutations, and a review of the literature.
    3. Dentate gyrus volume deficit in schizophrenia.
      Title: Dentate gyrus volume deficit in schizophrenia.
    4. Novel frameshift variant (c.409dupG) in SLC25A38 is a common cause of congenital sideroblastic anaemia in the Indian subcontinent.
      Title: Novel frameshift variant (c.409dupG) in SLC25A38 is a common cause of congenital sideroblastic anaemia in the Indian subcontinent.
    5. Clinical characterization and hematopoietic stem cell transplant outcomes for congenital sideroblastic anemia caused by a novel pathogenic variant in SLC25A38.
      Title: Clinical characterization and hematopoietic stem cell transplant outcomes for congenital sideroblastic anemia caused by a novel pathogenic variant in SLC25A38.
    6. These findings suggest that sideroblastic anemia must be considered a possible etiology in cases with unexplained hemolytic anemia. Furthermore, mutations in SLC25A38 gene could be a prevalent cause of congenital sideroblastic anemia (CSA) in the Iranian population.
      Title: Novel mutations in mitochondrial carrier family gene SLC25A38, causing congenital sideroblastic anemia in Iranian families, identified by whole exome sequencing.
    7. report confirms the considerable variability in manifestations among patients with ALAS2 or SLC25A38 mutations and draws attention to differences in the assessment and the monitoring of iron overload and its complications
      Title: Non syndromic childhood onset congenital sideroblastic anemia: A report of 13 patients identified with an ALAS2 or SLC25A38 mutation.
    8. the biochemical and molecular characterization of yeast Hem25p and human SLC25A38, providing evidence that they are mitochondrial carriers for glycine. In particular, the hem25Delta mutant manifests a defect in the biosynthesis of delta-aminolevulinic acid and displays reduced levels of downstream heme and mitochondrial cytochromes.
      Title: Characterization of Human and Yeast Mitochondrial Glycine Carriers with Implications for Heme Biosynthesis and Anemia.
    9. Appoptosin can interact with mitochondrial outer-membrane fusion proteins and regulates mitochondrial morphology.
      Title: Appoptosin interacts with mitochondrial outer-membrane fusion proteins and regulates mitochondrial morphology.
    10. Given the tolerability of glycine and folate in humans, this study points to a potential novel treatment for SLC25A38 congenital sideroblastic anemia
      Title: Glycine and Folate Ameliorate Models of Congenital Sideroblastic Anemia.
    Submit: New GeneRIF Correction See all GeneRIFs (17)

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Associated conditions

    Description Tests
    Sideroblastic anemia 2
    MedGen: C4225425 OMIM: 205950 GeneReviews: Not available
    		Compare labs

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ20551, FLJ22703

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables glycine transmembrane transporter activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables glycine transmembrane transporter activity IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in erythrocyte differentiation IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in glycine import into mitochondrion IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in glycine import into mitochondrion IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in heme biosynthetic process TAS
    Traceable Author Statement
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in mitochondrial inner membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    is_active_in mitochondrion IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    mitochondrial glycine transporter
    Names
    appoptosin
    mitochondrial glycine transporter GlyC

    NCBI Reference Sequences (RefSeq)

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    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.

    Genomic

    1. NG_016931.1 RefSeqGene

      Range
      5047..19028
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_1133

    mRNA and Protein(s)

    1. NM_001354798.2 → NP_001341727.1  mitochondrial glycine transporter isoform 2

      Status: REVIEWED

      Source sequence(s)
      AC099332, AC104850
      UniProtKB/TrEMBL
      A0A3B3IT77
      Conserved Domains (1) summary
      pfam00153
      Location:26 → 117
      Mito_carr; Mitochondrial carrier protein

    2. NM_017875.4 → NP_060345.2  mitochondrial glycine transporter 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
      A1LP07, Q96DW6, Q9NWX2
      UniProtKB/TrEMBL
      A0A2R8Y553
      Related
      ENSP00000497532.1, ENST00000650617.1
      Conserved Domains (1) summary
      pfam00153
      Location:26 → 117
      Mito_carr; Mitochondrial carrier protein

    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_000003.12 Reference GRCh38.p14 Primary Assembly

      Range
      39383370..39397351
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047448413.1 → XP_047304369.1  mitochondrial glycine transporter isoform X2

      UniProtKB/TrEMBL
      A0A2R8Y823

    2. XM_047448414.1 → XP_047304370.1  mitochondrial glycine transporter isoform X2

      UniProtKB/TrEMBL
      A0A2R8Y823

    3. XM_047448415.1 → XP_047304371.1  mitochondrial glycine transporter isoform X2

      UniProtKB/TrEMBL
      A0A2R8Y823

    4. XM_011533869.3 → XP_011532171.1  mitochondrial glycine transporter isoform X1

      See identical proteins and their annotated locations for XP_011532171.1

      UniProtKB/TrEMBL
      A0A2R8Y553
      Conserved Domains (2) summary
      PTZ00168
      Location:22 → 274
      PTZ00168; mitochondrial carrier protein; Provisional
      pfam00153
      Location:20 → 111
      Mito_carr; Mitochondrial carrier protein

    5. XM_047448416.1 → XP_047304372.1  mitochondrial glycine transporter isoform X2

      UniProtKB/TrEMBL
      A0A2R8Y823

    6. XM_024453611.2 → XP_024309379.1  mitochondrial glycine transporter isoform X2

      UniProtKB/TrEMBL
      A0A2R8Y553, A0A2R8Y823
      Related
      ENSP00000496690.1, ENST00000645280.1
      Conserved Domains (1) summary
      pfam00153
      Location:8 → 99
      Mito_carr; Mitochondrial carrier protein

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060927.1 Alternate T2T-CHM13v2.0

      Range
      39396296..39410278
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054347026.1 → XP_054203001.1  mitochondrial glycine transporter isoform X1

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q96DW6.1 GenPept UniProtKB/Swiss-Prot:Q96DW6

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