SLC16A12
entrez
387700
canonical
uniprot
Q6ZSM3
canonical
ensembl
ENSG00000152779
resolver
ensp
ENSP00000360855
resolver
ensp
ENSP00000569732
resolver
ensp
ENSP00000569733
resolver
ensp
ENSP00000569734
resolver
ensp
ENSP00000569736
resolver
ensp
ENSP00000569737
resolver
ensp
ENSP00000569738
resolver
ensp
ENSP00000569739
resolver
ensp
ENSP00000569740
resolver
ensp
ENSP00000569741
resolver
ensp
ENSP00000569742
resolver
ensp
ENSP00000569743
resolver
ensp
ENSP00000569744
resolver
ensp
ENSP00000569745
resolver
ensp
ENSP00000594929
resolver
ensp
ENSP00000621924
resolver
ensp
ENSP00000621925
resolver
enst
ENST00000371790
resolver
enst
ENST00000899673
resolver
enst
ENST00000899674
resolver
enst
ENST00000899675
resolver
enst
ENST00000899677
resolver
enst
ENST00000899678
resolver
enst
ENST00000899679
resolver
enst
ENST00000899680
resolver
enst
ENST00000899681
resolver
enst
ENST00000899682
resolver
enst
ENST00000899683
resolver
enst
ENST00000899684
resolver
enst
ENST00000899685
resolver
enst
ENST00000899686
resolver
enst
ENST00000924870
resolver
enst
ENST00000951865
resolver
enst
ENST00000951866
resolver
genesymbol
SLC16A12
resolver
genesymbol_syn
MCT12
resolver
hgnc
HGNC:23094
resolver
uniprot
E9PSF9
resolver
uniprot
Q5M9M9
resolver
uniprot
Q5T7J2
resolver
uniprot
Q6ZV76
resolver
uniprot_entry
MOT12_HUMAN
resolver
uniprot_sec
E9PSF9
resolver
uniprot_sec
Q5M9M9
resolver
uniprot_sec
Q5T7J2
resolver
uniprot_sec
Q6ZV76
resolver
activity_regulation
ACTIVITY REGULATION: Creatine uptake is inhibited by carbonyl cyanide 3-chlorophenylhydrazone (CCCP) and by valinomycin. {ECO:0000269|PubMed:23578822}.
uniprot
proteins
amino_acid_sequence
MPSGSHWTANSSKIITWLLEQPGKEEKRKTMAKVNRARSTSPPDGGWGWMIVAGCFLVTICTRAVTRCISIFFVEFQTYFTQDYAQTAWIHSIVDCVTMLCAPLGSVVSNHLSCQVGIMLGGLLASTGLILSSFATSLKHLYLTLGVLTGLGFALCYSPAIAMVGKYFSRRKALAYGIAMSGSGIGTFILAPVVQLLIEQFSWRGALLILGGFVLNLCVCGALMRPITLKEDHTTPEQNHVCRTQKEDIKRVSPYSSLTKEWAQTCLCCCLQQEYSFLLMSDFVVLAVSVLFMAYGCSPLFVYLVPYALSVGVSHQQAAFLMSILGVIDIIGNITFGWLTDRRCLKNYQYVCYLFAVGMDGLCYLCLPMLQSLPLLVPFSCTFGYFDGAYVTLIPVVTTEIVGTTSLSSALGVVYFLHAVPYLVSPPIAGRLVDTTGSYTAAFLLCGFSMIFSSVLLGFARLIKRMRKTQLQFIAKESDPKLQLWTNGSVAYSVARELDQKHGEPVATAVPGYSLT
uniprot
proteins
disease_involvement
DISEASE: Cataract 47 (CTRCT47) [MIM:612018]: A form of cataract, an opacification of the crystalline lens of the eye that frequently results in visual impairment or blindness. Opacities vary in morphology, are often confined to a portion of the lens, and may be static or progressive. In general, the more posteriorly located and dense an opacity, the greater the impact on visual function. CTRCT47 is characterized by the association of cataract with microcornea and renal glucosuria. Microcornea is defined by a corneal diameter inferior to 10 mm in both meridians in an otherwise normal eye. Renal glucosuria is defined by elevated glucose level in the urine without hyperglycemia and without evidence of morphological renal anomalies. {ECO:0000269|PubMed:18304496, ECO:0000269|PubMed:21778275}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Functions as a transporter for creatine and as well for its precursor guanidinoacetate. Transport of creatine and GAA is independent of resting membrane potential and extracellular Na(+), Cl(-), or pH. Contributes to the process of creatine biosynthesis and distribution. {ECO:0000269|PubMed:23578822, ECO:0000269|PubMed:26376857, ECO:0000269|PubMed:31784090, ECO:0000269|PubMed:32249133, ECO:0000269|PubMed:32781157}.
uniprot
proteins
mass_dalton
56498
uniprot
proteins
mutagenesis
MUTAGEN 67; /note="R->A: Abolishes creatine efflux activity. Does not affect plasma membrane localization."; /evidence="ECO:0000269|PubMed:32249133"; MUTAGEN 95; /note="D->A: Decreases in the creatine efflux activity. Does not affect plasma membrane localization."; /evidence="ECO:0000269|PubMed:32249133"; MUTAGEN 329; /note="D->A: Decreases creatine efflux activity. Loss of localization to the plasma membrane."; /evidence="ECO:0000269|PubMed:32249133"; MUTAGEN 360; /note="D->A: Does not affect creatine efflux activity. Does not affect plasma membrane localization."; /evidence="ECO:0000269|PubMed:32249133"; MUTAGEN 387; /note="D->A: Does not affect creatine efflux activity."; /evidence="ECO:0000269|PubMed:32249133
uniprot
proteins
protein_family
Major facilitator superfamily
uniprot
proteins
protein_family
Monocarboxylate porter (TC 2.A.1.13) family
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15164054
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
18304496
uniprot
proteins
pubmed
21778275
uniprot
proteins
pubmed
23578822
uniprot
proteins
pubmed
26376857
uniprot
proteins
pubmed
31784090
uniprot
proteins
pubmed
32249133
uniprot
proteins
pubmed
32781157
uniprot
proteins
sequence_length
516
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:21778275, ECO:0000269|PubMed:23578822, ECO:0000269|PubMed:31784090, ECO:0000269|PubMed:32249133}; Multi-pass membrane protein {ECO:0000255}. Basolateral cell membrane {ECO:0000250|UniProtKB:Q8BGC3}; Multi-pass membrane protein {ECO:0000255}. Note=Interaction with isoform 2 of BSG is required for its localization to the plasma membrane. {ECO:0000269|PubMed:26376857}.
uniprot
proteins
transmembrane_region
TRANSMEM 51..73; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 88..108; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 116..136; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 145..165; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 178..198; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 207..227; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 283..303; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 319..339; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 350..370; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 377..397; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 410..430; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 440..460; /note="Helical"; /evidence="ECO:0000255
uniprot
proteins