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Q6ZSM3 (MOT12_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified April 16, 2014. Version 89. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (3) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Monocarboxylate transporter 12

Short name=MCT 12
Alternative name(s):
Solute carrier family 16 member 12
Gene names
Name:SLC16A12
Synonyms:MCT12
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length486 AA.
Sequence statusComplete.
Protein existenceEvidence at transcript level

General annotation (Comments)

Function

Proton-linked monocarboxylate transporter. Catalyzes the rapid transport across the plasma membrane of many monocarboxylates By similarity.

Subcellular location

Cell membrane; Multi-pass membrane protein By similarity.

Tissue specificity

Most highly expressed in kidney, followed by retina, lung, and testis. Very weakly expressed in brain and liver. Also detected in lens. Ref.4

Involvement in disease

Cataract, juvenile, with microcornea and glucosuria (CJMG) [MIM:612018]: A 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.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.4

Sequence similarities

Belongs to the major facilitator superfamily. Monocarboxylate porter (TC 2.A.1.13) family. [View classification]

Sequence caution

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

Ontologies

Keywords
   Biological processSymport
Transport
   Cellular componentCell membrane
Membrane
   DiseaseCataract
   DomainTransmembrane
Transmembrane helix
   Technical termComplete proteome
Reference proteome
Gene Ontology (GO)
   Cellular_componentintegral component of membrane

Inferred from electronic annotation. Source: UniProtKB-KW

plasma membrane

Inferred from electronic annotation. Source: UniProtKB-SubCell

   Molecular_functionsymporter activity

Inferred from electronic annotation. Source: UniProtKB-KW

Complete GO annotation...

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 486486Monocarboxylate transporter 12
PRO_0000286675

Regions

Topological domain1 – 2020Extracellular Potential
Transmembrane21 – 4323Helical; Potential
Topological domain44 – 5714Cytoplasmic Potential
Transmembrane58 – 7821Helical; Potential
Topological domain79 – 857Extracellular Potential
Transmembrane86 – 10621Helical; Potential
Topological domain107 – 1148Cytoplasmic Potential
Transmembrane115 – 13521Helical; Potential
Topological domain136 – 14712Extracellular Potential
Transmembrane148 – 16821Helical; Potential
Topological domain169 – 1768Cytoplasmic Potential
Transmembrane177 – 19721Helical; Potential
Topological domain198 – 25255Extracellular Potential
Transmembrane253 – 27321Helical; Potential
Topological domain274 – 28815Cytoplasmic Potential
Transmembrane289 – 30921Helical; Potential
Topological domain310 – 31910Extracellular Potential
Transmembrane320 – 34021Helical; Potential
Topological domain341 – 3466Cytoplasmic Potential
Transmembrane347 – 36721Helical; Potential
Topological domain368 – 37912Extracellular Potential
Transmembrane380 – 40021Helical; Potential
Topological domain401 – 4099Cytoplasmic Potential
Transmembrane410 – 43021Helical; Potential
Topological domain431 – 48656Extracellular Potential

Experimental info

Sequence conflict3041I → T in BAC86925. Ref.1
Sequence conflict3331C → S in BAC85987. Ref.1

Sequences

Sequence LengthMass (Da)Tools
Q6ZSM3 [UniParc].

Last modified May 15, 2007. Version 2.
Checksum: 6132997A6DB7D0FB

FASTA48653,075
        10         20         30         40         50         60 
MAKVNRARST SPPDGGWGWM IVAGCFLVTI CTRAVTRCIS IFFVEFQTYF TQDYAQTAWI 

        70         80         90        100        110        120 
HSIVDCVTML CAPLGSVVSN HLSCQVGIML GGLLASTGLI LSSFATSLKH LYLTLGVLTG 

       130        140        150        160        170        180 
LGFALCYSPA IAMVGKYFSR RKALAYGIAM SGSGIGTFIL APVVQLLIEQ FSWRGALLIL 

       190        200        210        220        230        240 
GGFVLNLCVC GALMRPITLK EDHTTPEQNH VCRTQKEDIK RVSPYSSLTK EWAQTCLCCC 

       250        260        270        280        290        300 
LQQEYSFLLM SDFVVLAVSV LFMAYGCSPL FVYLVPYALS VGVSHQQAAF LMSILGVIDI 

       310        320        330        340        350        360 
IGNITFGWLT DRRCLKNYQY VCYLFAVGMD GLCYLCLPML QSLPLLVPFS CTFGYFDGAY 

       370        380        390        400        410        420 
VTLIPVVTTE IVGTTSLSSA LGVVYFLHAV PYLVSPPIAG RLVDTTGSYT AAFLLCGFSM 

       430        440        450        460        470        480 
IFSSVLLGFA RLIKRMRKTQ LQFIAKESDP KLQLWTNGSV AYSVARELDQ KHGEPVATAV 


PGYSLT 

« Hide

References

« Hide 'large scale' references
[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. expand/collapse author list , 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. expand/collapse author list , 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.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
AK124901 mRNA. Translation: BAC85987.1. Different initiation.
AK127303 mRNA. Translation: BAC86925.1.
AL353146 Genomic DNA. Translation: CAI12383.2.
BC086873 mRNA. Translation: AAH86873.1.
RefSeqNP_998771.3. NM_213606.3.
UniGeneHs.530338.

3D structure databases

ProteinModelPortalQ6ZSM3.
SMRQ6ZSM3. Positions 58-107, 296-322.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

STRING9606.ENSP00000343022.

Protein family/group databases

TCDB2.A.1.13.14. the major facilitator superfamily (mfs).

Polymorphism databases

DMDM147704293.

Proteomic databases

PaxDbQ6ZSM3.
PRIDEQ6ZSM3.

Protocols and materials databases

DNASU387700.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000341233; ENSP00000343022; ENSG00000152779.
GeneID387700.
KEGGhsa:387700.

Organism-specific databases

CTD387700.
GeneCardsGC10M091181.
HGNCHGNC:23094. SLC16A12.
HPAHPA037587.
MIM611910. gene.
612018. phenotype.
neXtProtNX_Q6ZSM3.
Orphanet247794. Juvenile cataract - microcornea - renal glucosuria.
PharmGKBPA134969386.
GenAtlasSearch...

Phylogenomic databases

eggNOGCOG0477.
HOGENOMHOG000280688.
HOVERGENHBG097674.
InParanoidQ6ZSM3.
KOK11810.
PhylomeDBQ6ZSM3.

Gene expression databases

BgeeQ6ZSM3.
CleanExHS_SLC16A12.
GenevestigatorQ6ZSM3.

Family and domain databases

InterProIPR011701. MFS.
IPR020846. MFS_dom.
IPR016196. MFS_dom_general_subst_transpt.
[Graphical view]
PfamPF07690. MFS_1. 1 hit.
[Graphical view]
SUPFAMSSF103473. SSF103473. 2 hits.
PROSITEPS50850. MFS. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

GenomeRNAi387700.
NextBio101521.
PROQ6ZSM3.
SOURCESearch...

Entry information

Entry nameMOT12_HUMAN
AccessionPrimary (citable) accession number: Q6ZSM3
Secondary accession number(s): Q5M9M9, Q5T7J2, Q6ZV76
Entry history
Integrated into UniProtKB/Swiss-Prot: May 15, 2007
Last sequence update: May 15, 2007
Last modified: April 16, 2014
This is version 89 of the entry and version 2 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human chromosome 10

Human chromosome 10: entries, gene names and cross-references to MIM