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Protein

Monocarboxylate transporter 12

Gene

SLC16A12

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

Proton-linked monocarboxylate transporter that mediates creatine transport across the plasma membrane.1 Publication

GO - Molecular functioni

GO - Biological processi

Keywordsi

Biological processSymport, Transport

Protein family/group databases

TCDBi2.A.1.13.14 the major facilitator superfamily (mfs)

Names & Taxonomyi

Protein namesi
Recommended name:
Monocarboxylate transporter 12
Short name:
MCT 12
Alternative name(s):
Creatine transporter 21 Publication
Short name:
CRT21 Publication
Solute carrier family 16 member 12
Gene namesi
Name:SLC16A12
Synonyms:MCT12
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Unplaced

Organism-specific databases

HGNCiHGNC:23094 SLC16A12
MIMi611910 gene
neXtProtiNX_Q6ZSM3

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Topological domaini1 – 20CytoplasmicSequence analysisAdd BLAST20
Transmembranei21 – 43HelicalSequence analysisAdd BLAST23
Transmembranei58 – 78HelicalSequence analysisAdd BLAST21
Transmembranei86 – 106HelicalSequence analysisAdd BLAST21
Transmembranei115 – 135HelicalSequence analysisAdd BLAST21
Transmembranei148 – 168HelicalSequence analysisAdd BLAST21
Transmembranei177 – 197HelicalSequence analysisAdd BLAST21
Transmembranei253 – 273HelicalSequence analysisAdd BLAST21
Transmembranei289 – 309HelicalSequence analysisAdd BLAST21
Transmembranei320 – 340HelicalSequence analysisAdd BLAST21
Transmembranei347 – 367HelicalSequence analysisAdd BLAST21
Transmembranei380 – 400HelicalSequence analysisAdd BLAST21
Transmembranei410 – 430HelicalSequence analysisAdd BLAST21
Topological domaini431 – 486CytoplasmicSequence analysisAdd BLAST56

Keywords - Cellular componenti

Cell membrane, Membrane

Pathology & Biotechi

Involvement in diseasei

Cataract 47 (CTRCT47)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA 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.
See also OMIM:612018

Keywords - Diseasei

Cataract

Organism-specific databases

DisGeNETi387700
MalaCardsiSLC16A12
MIMi612018 phenotype
Orphaneti247794 Juvenile cataract - microcornea - renal glucosuria
PharmGKBiPA134969386

Polymorphism and mutation databases

BioMutaiSLC16A12
DMDMi147704293

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00002866751 – 486Monocarboxylate transporter 12Add BLAST486

Proteomic databases

PaxDbiQ6ZSM3
PRIDEiQ6ZSM3
ProteomicsDBi68228

PTM databases

iPTMnetiQ6ZSM3
PhosphoSitePlusiQ6ZSM3

Expressioni

Tissue specificityi

Most highly expressed in kidney, followed by retina, lung, heart and testis. Very weakly expressed in brain and liver. Also detected in lens.2 Publications

Gene expression databases

CleanExiHS_SLC16A12

Organism-specific databases

HPAiHPA037587

Interactioni

Protein-protein interaction databases

IntActiQ6ZSM3, 4 interactors
STRINGi9606.ENSP00000360855

Structurei

3D structure databases

ProteinModelPortaliQ6ZSM3
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiKOG2504 Eukaryota
COG0477 LUCA
HOGENOMiHOG000280688
HOVERGENiHBG097674
InParanoidiQ6ZSM3
KOiK11810
PhylomeDBiQ6ZSM3

Family and domain databases

CDDicd06174 MFS, 1 hit
InterProiView protein in InterPro
IPR011701 MFS
IPR020846 MFS_dom
IPR036259 MFS_trans_sf
PfamiView protein in Pfam
PF07690 MFS_1, 1 hit
SUPFAMiSSF103473 SSF103473, 2 hits
PROSITEiView protein in PROSITE
PS50850 MFS, 1 hit

Sequence (1+)i

Sequence statusi: Complete.

This entry has 1 described isoform and 2 potential isoforms that are computationally mapped.Show allAlign All

Q6ZSM3-1 [UniParc]FASTAAdd to basket
« Hide
        10         20         30         40         50
MAKVNRARST SPPDGGWGWM IVAGCFLVTI CTRAVTRCIS IFFVEFQTYF
60 70 80 90 100
TQDYAQTAWI HSIVDCVTML CAPLGSVVSN HLSCQVGIML GGLLASTGLI
110 120 130 140 150
LSSFATSLKH LYLTLGVLTG LGFALCYSPA IAMVGKYFSR RKALAYGIAM
160 170 180 190 200
SGSGIGTFIL APVVQLLIEQ FSWRGALLIL GGFVLNLCVC GALMRPITLK
210 220 230 240 250
EDHTTPEQNH VCRTQKEDIK RVSPYSSLTK EWAQTCLCCC LQQEYSFLLM
260 270 280 290 300
SDFVVLAVSV LFMAYGCSPL FVYLVPYALS VGVSHQQAAF LMSILGVIDI
310 320 330 340 350
IGNITFGWLT DRRCLKNYQY VCYLFAVGMD GLCYLCLPML QSLPLLVPFS
360 370 380 390 400
CTFGYFDGAY VTLIPVVTTE IVGTTSLSSA LGVVYFLHAV PYLVSPPIAG
410 420 430 440 450
RLVDTTGSYT AAFLLCGFSM IFSSVLLGFA RLIKRMRKTQ LQFIAKESDP
460 470 480
KLQLWTNGSV AYSVARELDQ KHGEPVATAV PGYSLT
Length:486
Mass (Da):53,075
Last modified:May 15, 2007 - v2
Checksum:i6132997A6DB7D0FB
GO

Computationally mapped potential isoform sequencesi

There are 2 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
E9PSF9E9PSF9_HUMAN
Monocarboxylate transporter 12
SLC16A12
516Annotation score:
E9PPP4E9PPP4_HUMAN
Monocarboxylate transporter 12
SLC16A12
25Annotation score:

Sequence cautioni

The sequence BAC85987 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti304I → T in BAC86925 (PubMed:14702039).Curated1
Sequence conflicti333C → S in BAC85987 (PubMed:14702039).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_071890407G → S Found in a patient with age-related cataract; unknown pathological significance; decreases creatine transport. 1 Publication1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK124901 mRNA Translation: BAC85987.1 Different initiation.
AK127303 mRNA Translation: BAC86925.1
AL353146 Genomic DNA No translation available.
BC086873 mRNA Translation: AAH86873.1
RefSeqiNP_998771.3, NM_213606.3
UniGeneiHs.530338

Genome annotation databases

EnsembliENST00000341233; ENSP00000343022; ENSG00000152779
GeneIDi387700
KEGGihsa:387700

Keywords - Coding sequence diversityi

Polymorphism

Similar proteinsi

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK124901 mRNA Translation: BAC85987.1 Different initiation.
AK127303 mRNA Translation: BAC86925.1
AL353146 Genomic DNA No translation available.
BC086873 mRNA Translation: AAH86873.1
RefSeqiNP_998771.3, NM_213606.3
UniGeneiHs.530338

3D structure databases

ProteinModelPortaliQ6ZSM3
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

IntActiQ6ZSM3, 4 interactors
STRINGi9606.ENSP00000360855

Protein family/group databases

TCDBi2.A.1.13.14 the major facilitator superfamily (mfs)

PTM databases

iPTMnetiQ6ZSM3
PhosphoSitePlusiQ6ZSM3

Polymorphism and mutation databases

BioMutaiSLC16A12
DMDMi147704293

Proteomic databases

PaxDbiQ6ZSM3
PRIDEiQ6ZSM3
ProteomicsDBi68228

Protocols and materials databases

DNASUi387700
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000341233; ENSP00000343022; ENSG00000152779
GeneIDi387700
KEGGihsa:387700

Organism-specific databases

CTDi387700
DisGeNETi387700
GeneCardsiSLC16A12
HGNCiHGNC:23094 SLC16A12
HPAiHPA037587
MalaCardsiSLC16A12
MIMi611910 gene
612018 phenotype
neXtProtiNX_Q6ZSM3
Orphaneti247794 Juvenile cataract - microcornea - renal glucosuria
PharmGKBiPA134969386
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG2504 Eukaryota
COG0477 LUCA
HOGENOMiHOG000280688
HOVERGENiHBG097674
InParanoidiQ6ZSM3
KOiK11810
PhylomeDBiQ6ZSM3

Miscellaneous databases

ChiTaRSiSLC16A12 human
GenomeRNAii387700
PROiPR:Q6ZSM3
SOURCEiSearch...

Gene expression databases

CleanExiHS_SLC16A12

Family and domain databases

CDDicd06174 MFS, 1 hit
InterProiView protein in InterPro
IPR011701 MFS
IPR020846 MFS_dom
IPR036259 MFS_trans_sf
PfamiView protein in Pfam
PF07690 MFS_1, 1 hit
SUPFAMiSSF103473 SSF103473, 2 hits
PROSITEiView protein in PROSITE
PS50850 MFS, 1 hit
ProtoNetiSearch...

Entry informationi

Entry nameiMOT12_HUMAN
AccessioniPrimary (citable) accession number: Q6ZSM3
Secondary accession number(s): Q5M9M9, Q5T7J2, Q6ZV76
Entry historyiIntegrated into UniProtKB/Swiss-Prot: May 15, 2007
Last sequence update: May 15, 2007
Last modified: July 18, 2018
This is version 115 of the entry and version 2 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 10
    Human chromosome 10: entries, gene names and cross-references to MIM
  2. SIMILARITY comments
    Index of protein domains and families
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
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Main funding by: National Institutes of Health

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