• Gene id: 60386

Gene Summary

• Gene Symbol: SLC25A19   Gene   UCSC   Ensembl
• Aliases: DNC, MCPHA, MUP1, THMD3, THMD4, TPC
• Gene name: solute carrier family 25 member 19
• Alternate names: mitochondrial thiamine pyrophosphate carrier, mitochondrial uncoupling protein 1, solute carrier family 25 (mitochondrial deoxynucleotide carrier), member 19, solute carrier family 25 (mitochondrial thiamine pyrophosphate carrier), member 19,
• Gene location: 17q25.1 (75289957: 75272979)     Exons: 11     NC_000017.11
• Gene summary(Entrez): 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 mitochon
• OMIM: 606707

Protein Summary

• Protein general information: Q9HC21  
  • Name: Mitochondrial thiamine pyrophosphate carrier (Mitochondrial uncoupling protein 1) (Solute carrier family 25 member 19)
  • Length: 320  
  • Mass: 35511
  • Tissue specificity: Expressed in all tissues examined except for placenta. Highest levels in colon, kidney, lung, testis, spleen, and brain. {ECO
• Sequence:

  MVGYDPKPDGRNNTKFQVAVAGSVSGLVTRALISPFDVIKIRFQLQHERLSRSDPSAKYHGILQASRQILQEEGP
  TAFWKGHVPAQILSIGYGAVQFLSFEMLTELVHRGSVYDAREFSVHFVCGGLAACMATLTVHPVDVLRTRFAAQG
  EPKVYNTLRHAVGTMYRSEGPQVFYKGLAPTLIAIFPYAGLQFSCYSSLKHLYKWAIPAEGKKNENLQNLLCGSG
  AGVISKTLTYPLDLFKKRLQVGGFEHARAAFGQVRRYKGLMDCAKQVLQKEGALGFFKGLSPSLLKAALSTGFMF
  FSYEFFCNVFHCMNRTASQR

• Structural information:
  • Interpro: IPR002067  IPR018108  IPR023395  
  • Prosite: PS50920
  • STRING: ENSP00000385312
• Other Databases: GeneCards:  SLC25A19  Malacards:  SLC25A19

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0031305	integral component of mitochondrial inner membrane	IBA	cellular component
GO:0030974	thiamine pyrophosphate transmembrane transport	IBA	biological process
GO:0015234	thiamine transmembrane transporter activity	IBA	molecular function
GO:0005347	ATP transmembrane transporter activity	IEA	molecular function
GO:0055085	transmembrane transport	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0005739	mitochondrion	IEA	cellular component
GO:0005743	mitochondrial inner membrane	IEA	cellular component
GO:0005743	mitochondrial inner membrane	TAS	cellular component
GO:0042723	thiamine-containing compound metabolic process	TAS	biological process
GO:0090422	thiamine pyrophosphate transmembrane transporter activity	TAS	molecular function
GO:0005743	mitochondrial inner membrane	IEA	cellular component
GO:0071934	thiamine transmembrane transport	IEA	biological process
GO:0015867	ATP transport	IEA	biological process
GO:0030233	deoxynucleotide transmembrane transporter activity	TAS	molecular function
GO:0005634	nucleus	HDA	cellular component
GO:0030302	deoxynucleotide transport	NAS	biological process

Diseases

Associated diseases	References
Microcephaly, Amish type	KEGG:H00990
Microcephaly, Amish type	KEGG:H00990
Microcephaly	PMID:12185364
Hypospermatogenesis	MIK: 28361989
Spermatogenic defects	MIK: 31037746

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
28361989	Hypospermatogenesis			6 (3 controls, 3 Klienfelter syndrome	Male infertility	Microarray
31037746	Spermatogenic defects			16 (1 control, 15 cases)	Male infertility	GSE6023 analyzed using GEO2R