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Q6ZSM3

- MOT12_HUMAN

UniProt

Q6ZSM3 - MOT12_HUMAN

Protein

Monocarboxylate transporter 12

Gene

SLC16A12

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 3 out of 5- Experimental evidence at transcript leveli
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    • History
      Entry version 91 (01 Oct 2014)
      Sequence version 2 (15 May 2007)
      Previous versions | rss
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    Functioni

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

    GO - Molecular functioni

    1. symporter activity Source: UniProtKB-KW

    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):
    Solute carrier family 16 member 12
    Gene namesi
    Name:SLC16A12
    Synonyms:MCT12
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 10

    Organism-specific databases

    HGNCiHGNC:23094. SLC16A12.

    Subcellular locationi

    Cell membrane By similarity; Multi-pass membrane protein By similarity

    GO - Cellular componenti

    1. integral component of membrane Source: UniProtKB-KW
    2. plasma membrane Source: UniProtKB-SubCell

    Keywords - Cellular componenti

    Cell membrane, Membrane

    Pathology & Biotechi

    Involvement in diseasei

    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.1 Publication
    Note: The disease is caused by mutations affecting the gene represented in this entry.

    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, and testis. Very weakly expressed in brain and liver. Also detected in lens.1 Publication

    Gene expression databases

    BgeeiQ6ZSM3.
    CleanExiHS_SLC16A12.
    GenevestigatoriQ6ZSM3.

    Organism-specific databases

    HPAiHPA037587.

    Interactioni

    Protein-protein interaction databases

    STRINGi9606.ENSP00000343022.

    Structurei

    3D structure databases

    ProteinModelPortaliQ6ZSM3.
    ModBaseiSearch...
    MobiDBiSearch...

    Topological domain

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Topological domaini1 – 2020ExtracellularSequence AnalysisAdd
    BLAST
    Topological domaini44 – 5714CytoplasmicSequence AnalysisAdd
    BLAST
    Topological domaini79 – 857ExtracellularSequence Analysis
    Topological domaini107 – 1148CytoplasmicSequence Analysis
    Topological domaini136 – 14712ExtracellularSequence AnalysisAdd
    BLAST
    Topological domaini169 – 1768CytoplasmicSequence Analysis
    Topological domaini198 – 25255ExtracellularSequence AnalysisAdd
    BLAST
    Topological domaini274 – 28815CytoplasmicSequence AnalysisAdd
    BLAST
    Topological domaini310 – 31910ExtracellularSequence Analysis
    Topological domaini341 – 3466CytoplasmicSequence Analysis
    Topological domaini368 – 37912ExtracellularSequence AnalysisAdd
    BLAST
    Topological domaini401 – 4099CytoplasmicSequence Analysis
    Topological domaini431 – 48656ExtracellularSequence AnalysisAdd
    BLAST

    Transmembrane

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Transmembranei21 – 4323HelicalSequence AnalysisAdd
    BLAST
    Transmembranei58 – 7821HelicalSequence AnalysisAdd
    BLAST
    Transmembranei86 – 10621HelicalSequence AnalysisAdd
    BLAST
    Transmembranei115 – 13521HelicalSequence AnalysisAdd
    BLAST
    Transmembranei148 – 16821HelicalSequence AnalysisAdd
    BLAST
    Transmembranei177 – 19721HelicalSequence AnalysisAdd
    BLAST
    Transmembranei253 – 27321HelicalSequence AnalysisAdd
    BLAST
    Transmembranei289 – 30921HelicalSequence AnalysisAdd
    BLAST
    Transmembranei320 – 34021HelicalSequence AnalysisAdd
    BLAST
    Transmembranei347 – 36721HelicalSequence AnalysisAdd
    BLAST
    Transmembranei380 – 40021HelicalSequence AnalysisAdd
    BLAST
    Transmembranei410 – 43021HelicalSequence AnalysisAdd
    BLAST

    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.
    IPR016196. MFS_dom_general_subst_transpt.
    [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

    MAKVNRARST SPPDGGWGWM IVAGCFLVTI CTRAVTRCIS IFFVEFQTYF    50
    TQDYAQTAWI HSIVDCVTML CAPLGSVVSN HLSCQVGIML GGLLASTGLI 100
    LSSFATSLKH LYLTLGVLTG LGFALCYSPA IAMVGKYFSR RKALAYGIAM 150
    SGSGIGTFIL APVVQLLIEQ FSWRGALLIL GGFVLNLCVC GALMRPITLK 200
    EDHTTPEQNH VCRTQKEDIK RVSPYSSLTK EWAQTCLCCC LQQEYSFLLM 250
    SDFVVLAVSV LFMAYGCSPL FVYLVPYALS VGVSHQQAAF LMSILGVIDI 300
    IGNITFGWLT DRRCLKNYQY VCYLFAVGMD GLCYLCLPML QSLPLLVPFS 350
    CTFGYFDGAY VTLIPVVTTE IVGTTSLSSA LGVVYFLHAV PYLVSPPIAG 400
    RLVDTTGSYT AAFLLCGFSM IFSSVLLGFA RLIKRMRKTQ LQFIAKESDP 450
    KLQLWTNGSV AYSVARELDQ KHGEPVATAV PGYSLT 486
    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.

    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

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    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.

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    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 .
    RefSeqi NP_998771.3. NM_213606.3.
    UniGenei Hs.530338.

    3D structure databases

    ProteinModelPortali Q6ZSM3.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    STRINGi 9606.ENSP00000343022.

    Protein family/group databases

    TCDBi 2.A.1.13.14. the major facilitator superfamily (mfs).

    Polymorphism databases

    DMDMi 147704293.

    Proteomic databases

    PaxDbi Q6ZSM3.
    PRIDEi Q6ZSM3.

    Protocols and materials databases

    DNASUi 387700.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000341233 ; ENSP00000343022 ; ENSG00000152779 .
    GeneIDi 387700.
    KEGGi hsa:387700.

    Organism-specific databases

    CTDi 387700.
    GeneCardsi GC10M091181.
    HGNCi HGNC:23094. SLC16A12.
    HPAi HPA037587.
    MIMi 611910. gene.
    612018. phenotype.
    neXtProti NX_Q6ZSM3.
    Orphaneti 247794. Juvenile cataract - microcornea - renal glucosuria.
    PharmGKBi PA134969386.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi COG0477.
    HOGENOMi HOG000280688.
    HOVERGENi HBG097674.
    InParanoidi Q6ZSM3.
    KOi K11810.
    PhylomeDBi Q6ZSM3.

    Miscellaneous databases

    GenomeRNAii 387700.
    NextBioi 101521.
    PROi Q6ZSM3.
    SOURCEi Search...

    Gene expression databases

    Bgeei Q6ZSM3.
    CleanExi HS_SLC16A12.
    Genevestigatori Q6ZSM3.

    Family and domain databases

    InterProi IPR011701. MFS.
    IPR020846. MFS_dom.
    IPR016196. MFS_dom_general_subst_transpt.
    [Graphical view ]
    Pfami PF07690. MFS_1. 1 hit.
    [Graphical view ]
    SUPFAMi SSF103473. SSF103473. 2 hits.
    PROSITEi PS50850. MFS. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    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.

    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: October 1, 2014
    This is version 91 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. MIM cross-references
      Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
    3. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3