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    SLC25A19 solute carrier family 25 member 19 [ Homo sapiens (human) ]

    Gene ID: 60386, updated on 8-Jul-2021

    Summary

    Official Symbol
    SLC25A19provided by HGNC
    Official Full Name
    solute carrier family 25 member 19provided by HGNC
    Primary source
    HGNC:HGNC:14409
    See related
    Ensembl:ENSG00000125454 MIM:606521
    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
    DNC; TPC; MUP1; MCPHA; THMD3; THMD4
    Summary
    This gene encodes a mitochondrial protein that is a member of the solute carrier family. Although this protein was initially thought to be the mitochondrial deoxynucleotide carrier involved in the uptake of deoxynucleotides into the matrix of the mitochondria, further studies have demonstrated that this protein instead functions as the mitochondrial thiamine pyrophosphate carrier, which transports thiamine pyrophosphates into mitochondria. Mutations in this gene cause microcephaly, Amish type, a metabolic disease that results in severe congenital microcephaly, severe 2-ketoglutaric aciduria, and death within the first year. Multiple alternatively spliced variants, encoding the same protein, have been identified for this gene. [provided by RefSeq, Jul 2008]
    Expression
    Broad expression in testis (RPKM 8.3), lymph node (RPKM 4.5) and 24 other tissues See more
    Orthologs
    NEW
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    Try the new Transcript table

    Genomic context

    See SLC25A19 in Genome Data Viewer
    Location:
    17q25.1
    Exon count:
    11
    Annotation release Status Assembly Chr Location
    109.20210514 current GRCh38.p13 (GCF_000001405.39) 17 NC_000017.11 (75272980..75289958, complement)
    105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (73269073..73285514, complement)

    Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene nucleoporin 85 Neighboring gene golgi associated, gamma adaptin ear containing, ARF binding protein 3 Neighboring gene MIF4GD divergent transcript Neighboring gene mitochondrial ribosomal protein S7 Neighboring gene MIF4G domain containing Neighboring gene growth factor receptor bound protein 2 Neighboring gene ribosomal protein L36a pseudogene 7 Neighboring gene microRNA 3678

    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

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    General protein information

    Preferred Names
    mitochondrial thiamine pyrophosphate carrier
    Names
    mitochondrial uncoupling protein 1
    solute carrier family 25 (mitochondrial deoxynucleotide carrier), member 19
    solute carrier family 25 (mitochondrial thiamine pyrophosphate carrier), member 19

    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.

    Genomic

    1. NG_008274.1 RefSeqGene

      Range
      5001..21470
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001126121.2NP_001119593.1  mitochondrial thiamine pyrophosphate carrier

      See identical proteins and their annotated locations for NP_001119593.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript. Variants 1, 2 and 3 encode the same protein.
      Source sequence(s)
      AA743427, AL833387, BM455504, DB482052
      Consensus CDS
      CCDS11720.1
      UniProtKB/Swiss-Prot
      Q9HC21
      UniProtKB/TrEMBL
      Q5JPC1
      Related
      ENSP00000397818.2, ENST00000416858.7
      Conserved Domains (2) summary
      PTZ00169
      Location:20293
      PTZ00169; ADP/ATP transporter on adenylate translocase; Provisional
      pfam00153
      Location:118203
      Mito_carr; Mitochondrial carrier protein
    2. NM_001126122.2NP_001119594.1  mitochondrial thiamine pyrophosphate carrier

      See identical proteins and their annotated locations for NP_001119594.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR compared to variant 1. Variants 1, 2 and 3 encode the same protein.
      Source sequence(s)
      AA743427, AL833387, BM455504, BU177306, DB482052
      Consensus CDS
      CCDS11720.1
      UniProtKB/Swiss-Prot
      Q9HC21
      UniProtKB/TrEMBL
      Q5JPC1
      Related
      ENSP00000402202.2, ENST00000442286.6
      Conserved Domains (2) summary
      PTZ00169
      Location:20293
      PTZ00169; ADP/ATP transporter on adenylate translocase; Provisional
      pfam00153
      Location:118203
      Mito_carr; Mitochondrial carrier protein
    3. NM_021734.5NP_068380.3  mitochondrial thiamine pyrophosphate carrier

      See identical proteins and their annotated locations for NP_068380.3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Variants 1, 2 and 3 encode the same protein.
      Source sequence(s)
      AA743427, AL833387, BC005120, BM455504, DA605220, DB482052
      Consensus CDS
      CCDS11720.1
      UniProtKB/Swiss-Prot
      Q9HC21
      UniProtKB/TrEMBL
      Q5JPC1
      Related
      ENSP00000463795.1, ENST00000580994.5
      Conserved Domains (2) summary
      PTZ00169
      Location:20293
      PTZ00169; ADP/ATP transporter on adenylate translocase; Provisional
      pfam00153
      Location:118203
      Mito_carr; Mitochondrial carrier protein

    RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

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

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000017.11 Reference GRCh38.p13 Primary Assembly

      Range
      75272980..75289958 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017024927.2XP_016880416.1  mitochondrial thiamine pyrophosphate carrier isoform X2

    2. XM_005257561.4XP_005257618.1  mitochondrial thiamine pyrophosphate carrier isoform X1

      See identical proteins and their annotated locations for XP_005257618.1

      UniProtKB/Swiss-Prot
      Q9HC21
      UniProtKB/TrEMBL
      Q5JPC1
      Conserved Domains (2) summary
      PTZ00169
      Location:20293
      PTZ00169; ADP/ATP transporter on adenylate translocase; Provisional
      pfam00153
      Location:118203
      Mito_carr; Mitochondrial carrier protein
    3. XM_005257559.4XP_005257616.1  mitochondrial thiamine pyrophosphate carrier isoform X1

      See identical proteins and their annotated locations for XP_005257616.1

      UniProtKB/Swiss-Prot
      Q9HC21
      UniProtKB/TrEMBL
      Q5JPC1
      Conserved Domains (2) summary
      PTZ00169
      Location:20293
      PTZ00169; ADP/ATP transporter on adenylate translocase; Provisional
      pfam00153
      Location:118203
      Mito_carr; Mitochondrial carrier protein
    4. XM_005257560.2XP_005257617.1  mitochondrial thiamine pyrophosphate carrier isoform X1

      See identical proteins and their annotated locations for XP_005257617.1

      UniProtKB/Swiss-Prot
      Q9HC21
      UniProtKB/TrEMBL
      Q5JPC1
      Conserved Domains (2) summary
      PTZ00169
      Location:20293
      PTZ00169; ADP/ATP transporter on adenylate translocase; Provisional
      pfam00153
      Location:118203
      Mito_carr; Mitochondrial carrier protein
    5. XM_005257562.2XP_005257619.1  mitochondrial thiamine pyrophosphate carrier isoform X1

      See identical proteins and their annotated locations for XP_005257619.1

      UniProtKB/Swiss-Prot
      Q9HC21
      UniProtKB/TrEMBL
      Q5JPC1
      Conserved Domains (2) summary
      PTZ00169
      Location:20293
      PTZ00169; ADP/ATP transporter on adenylate translocase; Provisional
      pfam00153
      Location:118203
      Mito_carr; Mitochondrial carrier protein
    6. XM_006722007.2XP_006722070.1  mitochondrial thiamine pyrophosphate carrier isoform X1

      See identical proteins and their annotated locations for XP_006722070.1

      UniProtKB/Swiss-Prot
      Q9HC21
      UniProtKB/TrEMBL
      Q5JPC1
      Conserved Domains (2) summary
      PTZ00169
      Location:20293
      PTZ00169; ADP/ATP transporter on adenylate translocase; Provisional
      pfam00153
      Location:118203
      Mito_carr; Mitochondrial carrier protein
    7. XM_017024926.2XP_016880415.1  mitochondrial thiamine pyrophosphate carrier isoform X1

      UniProtKB/Swiss-Prot
      Q9HC21
      UniProtKB/TrEMBL
      Q5JPC1
      Related
      ENSP00000385312.3, ENST00000402418.7
      Conserved Domains (2) summary
      PTZ00169
      Location:20293
      PTZ00169; ADP/ATP transporter on adenylate translocase; Provisional
      pfam00153
      Location:118203
      Mito_carr; Mitochondrial carrier protein
    8. XM_017024928.2XP_016880417.1  mitochondrial thiamine pyrophosphate carrier isoform X3

      Related
      ENSP00000462214.1, ENST00000583332.5
      Conserved Domains (1) summary
      pfam00153
      Location:118201
      Mito_carr; Mitochondrial carrier protein
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