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solute carrier family 25 member 19; mitochondrial thiamine pyrophosphate carrier; mitochondrial uncoupling protein 1 (SLC25A19, DNC, MUP1)
Function:
- mitochondrial transporter
- mediates uptake of thiamine pyrophosphate into mitochondria
Structure:
- belongs to the mitochondrial carrier family
- contains 3 solcar repeats
- the transmembrane helices are not perpendicular to the plane of the membrane, but cross the membrane at an angle
- odd-numbered transmembrane helices exhibit a sharp kink, due to the presence of a conserved proline residue (putative)
Compartment:
- mitochondrial inner membrane
Expression:
- expressed in all tissues examined except for placenta
- highest levels in colon, kidney, lung, testis, spleen, & brain
Pathology:
- defects in SLC25A19 are the cause of microcephaly amish type
General
glycoprotein
mitochondrial membrane protein
solute carrier family 25 (SLC25, SLC25A)
transmembrane 5 protein
Properties
SIZE: entity length = 320 aa
MW = 36 kD
COMPARTMENT: mitochondria
MOTIF: Solcar {13-106}
MOTIF: transmembrane domain {19-39}
transmembrane domain {87-107}
Solcar {116-202}
MOTIF: transmembrane domain {122-142}
transmembrane domain {173-193}
Solcar {214-309}
MOTIF: transmembrane domain {220-240}
Substrate recognition {241-246}
transmembrane domain {293-313}
Database Correlations
OMIM correlations
MORBIDMAP 606521
UniProt Q9HC21
Pfam PF00153
Entrez Gene 60386
Kegg hsa:60386
References
- UniProt :accession Q9HC21
- GeneReviews
http://www.ncbi.nlm.nih.gov/sites/genetests/lab/gene/SLC25A19