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

Gene ID: 60386, updated on 1-Jun-2020

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

Genomic context

See SLC25A19 in Genome Data Viewer
Location:
17q25.1
Exon count:
11
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 17 NC_000017.11 (75272980..75289958, 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 nucleoporin 85 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

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

Gene Ontology Provided by GOA

Function Evidence Code Pubs
ATP transmembrane transporter activity IEA
Inferred from Electronic Annotation
more info
 
deoxynucleotide transmembrane transporter activity TAS
Traceable Author Statement
more info
PubMed 
thiamine pyrophosphate transmembrane transporter activity TAS
Traceable Author Statement
more info
 
thiamine transmembrane transporter activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Process Evidence Code Pubs
ATP transport IEA
Inferred from Electronic Annotation
more info
 
deoxynucleotide transport NAS
Non-traceable Author Statement
more info
PubMed 
thiamine pyrophosphate transmembrane transport IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
thiamine transmembrane transport IEA
Inferred from Electronic Annotation
more info
 
thiamine-containing compound metabolic process TAS
Traceable Author Statement
more info
 
Component Evidence Code Pubs
integral component of mitochondrial inner membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
mitochondrial inner membrane TAS
Traceable Author Statement
more info
 
nucleus HDA PubMed 

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)

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_001126122.1NP_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, BU607955, 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_021734.4NP_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, BU607955, 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.

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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