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SLC25A19 solute carrier family 25 (mitochondrial thiamine pyrophosphate carrier), member 19 [ Homo sapiens (human) ]

Gene ID: 60386, updated on 8-Feb-2015
Official Symbol
SLC25A19provided by HGNC
Official Full Name
solute carrier family 25 (mitochondrial thiamine pyrophosphate carrier), member 19provided by HGNC
Primary source
HGNC:HGNC:14409
See related
Ensembl:ENSG00000125454; HPRD:08405; MIM:606521; Vega:OTTHUMG00000179607
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]
Orthologs
See SLC25A19 in MapViewer
Location:
17q25.3
Exon count:
10
Annotation release Status Assembly Chr Location
106 current GRCh38 (GCF_000001405.26) 17 NC_000017.11 (75272980..75289449, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (73269061..73285530, complement)

Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene golgi-associated, gamma adaptin ear containing, ARF binding protein 3 Neighboring gene uncharacterized LOC100287042 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

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
deoxynucleotide transmembrane transporter activity TAS
Traceable Author Statement
more info
PubMed 
Process Evidence Code Pubs
deoxynucleotide transport NAS
Non-traceable Author Statement
more info
PubMed 
transmembrane transport IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
integral component of membrane IEA
Inferred from Electronic Annotation
more info
 
mitochondrial inner membrane IEA
Inferred from Electronic Annotation
more info
 
nucleus IDA
Inferred from Direct Assay
more info
PubMed 
Preferred Names
mitochondrial thiamine pyrophosphate carrier
Names
mitochondrial thiamine pyrophosphate carrier
microcephaly, Amish
mitochondrial uncoupling protein 1
solute carrier family 25 (mitochondrial deoxynucleotide carrier), member 19

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_001126121.1NP_001119593.1  mitochondrial thiamine pyrophosphate carrier

    See proteins identical to 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, BU607955, DB482052
    Consensus CDS
    CCDS11720.1
    UniProtKB/TrEMBL
    Q5JPC1
    UniProtKB/Swiss-Prot
    Q9HC21
    Related
    ENSP00000397818, OTTHUMP00000261932, ENST00000416858, OTTHUMT00000447281
    Conserved Domains (2) summary
    PTZ00169
    Location:20293
    PTZ00169; ADP/ATP transporter on adenylate translocase; Provisional
    pfam00153
    Location:212306
    Mito_carr; Mitochondrial carrier protein
  2. NM_001126122.1NP_001119594.1  mitochondrial thiamine pyrophosphate carrier

    See proteins identical to 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, BU607955, DB482052
    Consensus CDS
    CCDS11720.1
    UniProtKB/TrEMBL
    Q5JPC1
    UniProtKB/Swiss-Prot
    Q9HC21
    Related
    ENSP00000402202, OTTHUMP00000261934, ENST00000442286, OTTHUMT00000447283
    Conserved Domains (2) summary
    PTZ00169
    Location:20293
    PTZ00169; ADP/ATP transporter on adenylate translocase; Provisional
    pfam00153
    Location:212306
    Mito_carr; Mitochondrial carrier protein
  3. NM_021734.4NP_068380.3  mitochondrial thiamine pyrophosphate carrier

    See proteins identical to 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, BU607955, DA605220, DB482052
    Consensus CDS
    CCDS11720.1
    UniProtKB/TrEMBL
    Q5JPC1
    UniProtKB/Swiss-Prot
    Q9HC21
    Related
    ENSP00000463795, OTTHUMP00000261936, ENST00000580994, OTTHUMT00000447285
    Conserved Domains (2) summary
    PTZ00169
    Location:20293
    PTZ00169; ADP/ATP transporter on adenylate translocase; Provisional
    pfam00153
    Location:212306
    Mito_carr; Mitochondrial carrier protein

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 106

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

Reference GRCh38 Primary Assembly

Genomic

  1. NC_000017.11 Reference GRCh38 Primary Assembly

    Range
    75272980..75289449
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005257561.1XP_005257618.1  

    See proteins identical to XP_005257618.1

    UniProtKB/TrEMBL
    Q5JPC1
    UniProtKB/Swiss-Prot
    Q9HC21
    Conserved Domains (2) summary
    PTZ00169
    Location:20293
    PTZ00169; ADP/ATP transporter on adenylate translocase; Provisional
    pfam00153
    Location:212306
    Mito_carr; Mitochondrial carrier protein
  2. XM_005257559.1XP_005257616.1  

    See proteins identical to XP_005257616.1

    UniProtKB/TrEMBL
    Q5JPC1
    UniProtKB/Swiss-Prot
    Q9HC21
    Conserved Domains (2) summary
    PTZ00169
    Location:20293
    PTZ00169; ADP/ATP transporter on adenylate translocase; Provisional
    pfam00153
    Location:212306
    Mito_carr; Mitochondrial carrier protein
  3. XM_005257560.1XP_005257617.1  

    See proteins identical to XP_005257617.1

    UniProtKB/TrEMBL
    Q5JPC1
    UniProtKB/Swiss-Prot
    Q9HC21
    Conserved Domains (2) summary
    PTZ00169
    Location:20293
    PTZ00169; ADP/ATP transporter on adenylate translocase; Provisional
    pfam00153
    Location:212306
    Mito_carr; Mitochondrial carrier protein
  4. XM_005257562.1XP_005257619.1  

    See proteins identical to XP_005257619.1

    UniProtKB/TrEMBL
    Q5JPC1
    UniProtKB/Swiss-Prot
    Q9HC21
    Conserved Domains (2) summary
    PTZ00169
    Location:20293
    PTZ00169; ADP/ATP transporter on adenylate translocase; Provisional
    pfam00153
    Location:212306
    Mito_carr; Mitochondrial carrier protein
  5. XM_006722007.1XP_006722070.1  

    See proteins identical to XP_006722070.1

    UniProtKB/TrEMBL
    Q5JPC1
    UniProtKB/Swiss-Prot
    Q9HC21
    Conserved Domains (2) summary
    PTZ00169
    Location:20293
    PTZ00169; ADP/ATP transporter on adenylate translocase; Provisional
    pfam00153
    Location:212306
    Mito_carr; Mitochondrial carrier protein

Alternate CHM1_1.1

Genomic

  1. NC_018928.2 Alternate CHM1_1.1

    Range
    73333658..73350100
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

  1. AC_000149.1 Alternate HuRef

    Range
    68679265..68696066
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)