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Protein

Monocarboxylate transporter 12

Gene

SLC16A12

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 4 out of 5-Experimental evidence at protein leveli

Functioni

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

GO - Molecular functioni

  1. creatine transmembrane transporter activity Source: UniProtKB
  2. lactate transmembrane transporter activity Source: GO_Central
  3. symporter activity Source: UniProtKB-KW

GO - Biological processi

  1. creatine transmembrane transport Source: UniProtKB
  2. plasma membrane lactate transport Source: GO_Central
Complete GO annotation...

Keywords - Biological processi

Symport, 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
ProteomesiUP000005640: Unplaced

Organism-specific databases

HGNCiHGNC:23094. SLC16A12.

Subcellular locationi

Cell membrane 1 Publication; Multi-pass membrane protein CuratedSequence Analysis

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Topological domaini1 – 2020ExtracellularSequence AnalysisAdd
BLAST
Transmembranei21 – 4323HelicalSequence AnalysisAdd
BLAST
Topological domaini44 – 5714CytoplasmicSequence AnalysisAdd
BLAST
Transmembranei58 – 7821HelicalSequence AnalysisAdd
BLAST
Topological domaini79 – 857ExtracellularSequence Analysis
Transmembranei86 – 10621HelicalSequence AnalysisAdd
BLAST
Topological domaini107 – 1148CytoplasmicSequence Analysis
Transmembranei115 – 13521HelicalSequence AnalysisAdd
BLAST
Topological domaini136 – 14712ExtracellularSequence AnalysisAdd
BLAST
Transmembranei148 – 16821HelicalSequence AnalysisAdd
BLAST
Topological domaini169 – 1768CytoplasmicSequence Analysis
Transmembranei177 – 19721HelicalSequence AnalysisAdd
BLAST
Topological domaini198 – 25255ExtracellularSequence AnalysisAdd
BLAST
Transmembranei253 – 27321HelicalSequence AnalysisAdd
BLAST
Topological domaini274 – 28815CytoplasmicSequence AnalysisAdd
BLAST
Transmembranei289 – 30921HelicalSequence AnalysisAdd
BLAST
Topological domaini310 – 31910ExtracellularSequence Analysis
Transmembranei320 – 34021HelicalSequence AnalysisAdd
BLAST
Topological domaini341 – 3466CytoplasmicSequence Analysis
Transmembranei347 – 36721HelicalSequence AnalysisAdd
BLAST
Topological domaini368 – 37912ExtracellularSequence AnalysisAdd
BLAST
Transmembranei380 – 40021HelicalSequence AnalysisAdd
BLAST
Topological domaini401 – 4099CytoplasmicSequence Analysis
Transmembranei410 – 43021HelicalSequence AnalysisAdd
BLAST
Topological domaini431 – 48656ExtracellularSequence AnalysisAdd
BLAST

GO - Cellular componenti

  1. integral component of plasma membrane Source: UniProtKB
Complete GO annotation...

Keywords - Cellular componenti

Cell membrane, Membrane

Pathology & Biotechi

Involvement in diseasei

Cataract, juvenile, with microcornea and glucosuria1 Publication

The disease is caused by mutations affecting the gene represented in this entry.

Disease descriptionA disease characterized by the association of cataract with microcornea and renal glucosuria. Cataract is 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. 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

MIMi612018. phenotype.
Orphaneti247794. Juvenile cataract - microcornea - renal glucosuria.
PharmGKBiPA134969386.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 486486Monocarboxylate transporter 12PRO_0000286675Add
BLAST

Proteomic databases

PaxDbiQ6ZSM3.
PRIDEiQ6ZSM3.

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

BgeeiQ6ZSM3.
CleanExiHS_SLC16A12.
ExpressionAtlasiQ6ZSM3. baseline.
GenevestigatoriQ6ZSM3.

Organism-specific databases

HPAiHPA037587.

Interactioni

Protein-protein interaction databases

STRINGi9606.ENSP00000343022.

Structurei

3D structure databases

ProteinModelPortaliQ6ZSM3.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiCOG0477.
HOGENOMiHOG000280688.
HOVERGENiHBG097674.
InParanoidiQ6ZSM3.
KOiK11810.
PhylomeDBiQ6ZSM3.

Family and domain databases

InterProiIPR011701. MFS.
IPR020846. MFS_dom.
[Graphical view]
PfamiPF07690. MFS_1. 1 hit.
[Graphical view]
SUPFAMiSSF103473. SSF103473. 2 hits.
PROSITEiPS50850. MFS. 1 hit.
[Graphical view]

Sequencei

Sequence statusi: Complete.

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

Sequence cautioni

The sequence BAC85987.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti304 – 3041I → T in BAC86925. (PubMed:14702039)Curated
Sequence conflicti333 – 3331C → S in BAC85987. (PubMed:14702039)Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti407 – 4071G → S Found in a patient with age-related cataract; unknown pathological significance; decreases creatine transport. 1 Publication
VAR_071890

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. Translation: CAI12383.2.
BC086873 mRNA. Translation: AAH86873.1.
RefSeqiNP_998771.3. NM_213606.3.
UniGeneiHs.530338.

Genome annotation databases

EnsembliENST00000341233; ENSP00000343022; ENSG00000152779.
GeneIDi387700.
KEGGihsa:387700.

Polymorphism databases

DMDMi147704293.

Keywords - Coding sequence diversityi

Polymorphism

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. Translation: CAI12383.2.
BC086873 mRNA. Translation: AAH86873.1.
RefSeqiNP_998771.3. NM_213606.3.
UniGeneiHs.530338.

3D structure databases

ProteinModelPortaliQ6ZSM3.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

STRINGi9606.ENSP00000343022.

Protein family/group databases

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

Polymorphism databases

DMDMi147704293.

Proteomic databases

PaxDbiQ6ZSM3.
PRIDEiQ6ZSM3.

Protocols and materials databases

DNASUi387700.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000341233; ENSP00000343022; ENSG00000152779.
GeneIDi387700.
KEGGihsa:387700.

Organism-specific databases

CTDi387700.
GeneCardsiGC10M091181.
HGNCiHGNC:23094. SLC16A12.
HPAiHPA037587.
MIMi611910. gene.
612018. phenotype.
neXtProtiNX_Q6ZSM3.
Orphaneti247794. Juvenile cataract - microcornea - renal glucosuria.
PharmGKBiPA134969386.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiCOG0477.
HOGENOMiHOG000280688.
HOVERGENiHBG097674.
InParanoidiQ6ZSM3.
KOiK11810.
PhylomeDBiQ6ZSM3.

Miscellaneous databases

GenomeRNAii387700.
NextBioi101521.
PROiQ6ZSM3.
SOURCEiSearch...

Gene expression databases

BgeeiQ6ZSM3.
CleanExiHS_SLC16A12.
ExpressionAtlasiQ6ZSM3. baseline.
GenevestigatoriQ6ZSM3.

Family and domain databases

InterProiIPR011701. MFS.
IPR020846. MFS_dom.
[Graphical view]
PfamiPF07690. MFS_1. 1 hit.
[Graphical view]
SUPFAMiSSF103473. SSF103473. 2 hits.
PROSITEiPS50850. MFS. 1 hit.
[Graphical view]
ProtoNetiSearch...

Publicationsi

« Hide 'large scale' publications
  1. "Complete sequencing and characterization of 21,243 full-length human cDNAs."
    Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.
    , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
    Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
    Tissue: Hippocampus.
  2. "The DNA sequence and comparative analysis of human chromosome 10."
    Deloukas P., Earthrowl M.E., Grafham D.V., Rubenfield M., French L., Steward C.A., Sims S.K., Jones M.C., Searle S., Scott C., Howe K., Hunt S.E., Andrews T.D., Gilbert J.G.R., Swarbreck D., Ashurst J.L., Taylor A., Battles J.
    , Bird C.P., Ainscough R., Almeida J.P., Ashwell R.I.S., Ambrose K.D., Babbage A.K., Bagguley C.L., Bailey J., Banerjee R., Bates K., Beasley H., Bray-Allen S., Brown A.J., Brown J.Y., Burford D.C., Burrill W., Burton J., Cahill P., Camire D., Carter N.P., Chapman J.C., Clark S.Y., Clarke G., Clee C.M., Clegg S., Corby N., Coulson A., Dhami P., Dutta I., Dunn M., Faulkner L., Frankish A., Frankland J.A., Garner P., Garnett J., Gribble S., Griffiths C., Grocock R., Gustafson E., Hammond S., Harley J.L., Hart E., Heath P.D., Ho T.P., Hopkins B., Horne J., Howden P.J., Huckle E., Hynds C., Johnson C., Johnson D., Kana A., Kay M., Kimberley A.M., Kershaw J.K., Kokkinaki M., Laird G.K., Lawlor S., Lee H.M., Leongamornlert D.A., Laird G., Lloyd C., Lloyd D.M., Loveland J., Lovell J., McLaren S., McLay K.E., McMurray A., Mashreghi-Mohammadi M., Matthews L., Milne S., Nickerson T., Nguyen M., Overton-Larty E., Palmer S.A., Pearce A.V., Peck A.I., Pelan S., Phillimore B., Porter K., Rice C.M., Rogosin A., Ross M.T., Sarafidou T., Sehra H.K., Shownkeen R., Skuce C.D., Smith M., Standring L., Sycamore N., Tester J., Thorpe A., Torcasso W., Tracey A., Tromans A., Tsolas J., Wall M., Walsh J., Wang H., Weinstock K., West A.P., Willey D.L., Whitehead S.L., Wilming L., Wray P.W., Young L., Chen Y., Lovering R.C., Moschonas N.K., Siebert R., Fechtel K., Bentley D., Durbin R.M., Hubbard T., Doucette-Stamm L., Beck S., Smith D.R., Rogers J.
    Nature 429:375-381(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  3. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
    The MGC Project Team
    Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 220-486.
    Tissue: Cardiac myocyte and Skeletal muscle.
  4. "Mutation of solute carrier SLC16A12 associates with a syndrome combining juvenile cataract with microcornea and renal glucosuria."
    Kloeckener-Gruissem B., Vandekerckhove K., Nuernberg G., Neidhardt J., Zeitz C., Nuernberg P., Schipper I., Berger W.
    Am. J. Hum. Genet. 82:772-779(2008) [PubMed] [Europe PMC] [Abstract]
    Cited for: INVOLVEMENT IN CJMG, TISSUE SPECIFICITY.
  5. "The cataract and glucosuria associated monocarboxylate transporter MCT12 is a new creatine transporter."
    Abplanalp J., Laczko E., Philp N.J., Neidhardt J., Zuercher J., Braun P., Schorderet D.F., Munier F.L., Verrey F., Berger W., Camargo S.M., Kloeckener-Gruissem B.
    Hum. Mol. Genet. 22:3218-3226(2013) [PubMed] [Europe PMC] [Abstract]
    Cited for: FUNCTION, SUBCELLULAR LOCATION, VARIANT SER-407, CHARACTERIZATION OF VARIANT SER-407, TISSUE SPECIFICITY.

Entry informationi

Entry nameiMOT12_HUMAN
AccessioniPrimary (citable) accession number: Q6ZSM3
Secondary accession number(s): Q5M9M9, Q5T7J2, Q6ZV76
Entry historyi
Integrated into UniProtKB/Swiss-Prot: May 15, 2007
Last sequence update: May 15, 2007
Last modified: February 4, 2015
This is version 94 of the entry and version 2 of the sequence. [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. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  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. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into Uniref entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.