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Database: UniProt
Entry: Q9C0I1
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ID   MTMRC_HUMAN             Reviewed;         747 AA.
AC   Q9C0I1; Q69YJ4; Q6PFW3; Q96QU2; Q9NX27;
DT   15-JAN-2008, integrated into UniProtKB/Swiss-Prot.
DT   15-JAN-2008, sequence version 2.
DT   09-JUL-2014, entry version 77.
DE   RecName: Full=Myotubularin-related protein 12;
DE   AltName: Full=Phosphatidylinositol 3 phosphate 3-phosphatase adapter subunit;
DE            Short=3-PAP;
DE            Short=3-phosphatase adapter protein;
GN   Name=MTMR12; Synonyms=KIAA1682, PIP3AP;
OS   Homo sapiens (Human).
OC   Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
OC   Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
OC   Catarrhini; Hominidae; Homo.
OX   NCBI_TaxID=9606;
RN   [1]
RP   NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), FUNCTION, AND TISSUE
RP   SPECIFICITY.
RX   PubMed=11504939; DOI=10.1073/pnas.171306098;
RA   Nandurkar H.H., Caldwell K.K., Whisstock J.C., Layton M.J.,
RA   Gaudet E.A., Norris F.A., Majerus P.W., Mitchell C.A.;
RT   "Characterization of an adapter subunit to a phosphatidylinositol (3)P
RT   3-phosphatase: identification of a myotubularin-related protein
RT   lacking catalytic activity.";
RL   Proc. Natl. Acad. Sci. U.S.A. 98:9499-9504(2001).
RN   [2]
RP   NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
RX   PubMed=11214970; DOI=10.1093/dnares/7.6.347;
RA   Nagase T., Kikuno R., Hattori A., Kondo Y., Okumura K., Ohara O.;
RT   "Prediction of the coding sequences of unidentified human genes. XIX.
RT   The complete sequences of 100 new cDNA clones from brain which code
RT   for large proteins in vitro.";
RL   DNA Res. 7:347-355(2000).
RN   [3]
RP   NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 3).
RX   PubMed=14702039; DOI=10.1038/ng1285;
RA   Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R.,
RA   Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H.,
RA   Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.,
RA   Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K.,
RA   Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A.,
RA   Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M.,
RA   Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y.,
RA   Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M.,
RA   Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K.,
RA   Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S.,
RA   Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J.,
RA   Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y.,
RA   Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N.,
RA   Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S.,
RA   Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S.,
RA   Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O.,
RA   Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H.,
RA   Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B.,
RA   Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y.,
RA   Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T.,
RA   Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y.,
RA   Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S.,
RA   Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T.,
RA   Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M.,
RA   Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T.,
RA   Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K.,
RA   Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R.,
RA   Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.;
RT   "Complete sequencing and characterization of 21,243 full-length human
RT   cDNAs.";
RL   Nat. Genet. 36:40-45(2004).
RN   [4]
RP   NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
RX   PubMed=15489334; DOI=10.1101/gr.2596504;
RG   The MGC Project Team;
RT   "The status, quality, and expansion of the NIH full-length cDNA
RT   project: the Mammalian Gene Collection (MGC).";
RL   Genome Res. 14:2121-2127(2004).
RN   [5]
RP   NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 354-747 (ISOFORM 1).
RC   TISSUE=Melanoma;
RX   PubMed=17974005; DOI=10.1186/1471-2164-8-399;
RA   Bechtel S., Rosenfelder H., Duda A., Schmidt C.P., Ernst U.,
RA   Wellenreuther R., Mehrle A., Schuster C., Bahr A., Bloecker H.,
RA   Heubner D., Hoerlein A., Michel G., Wedler H., Koehrer K.,
RA   Ottenwaelder B., Poustka A., Wiemann S., Schupp I.;
RT   "The full-ORF clone resource of the German cDNA consortium.";
RL   BMC Genomics 8:399-399(2007).
RN   [6]
RP   FUNCTION, INTERACTION WITH MTM1 AND MTMR2, SUBCELLULAR LOCATION, AND
RP   REGION.
RX   PubMed=12847286; DOI=10.1073/pnas.1033097100;
RA   Nandurkar H.H., Layton M., Laporte J., Selan C., Corcoran L.,
RA   Caldwell K.K., Mochizuki Y., Majerus P.W., Mitchell C.A.;
RT   "Identification of myotubularin as the lipid phosphatase catalytic
RT   subunit associated with the 3-phosphatase adapter protein, 3-PAP.";
RL   Proc. Natl. Acad. Sci. U.S.A. 100:8660-8665(2003).
CC   -!- FUNCTION: Catalytically inactive phosphatase that plays a role as
CC       an adapter for the phosphatase myotubularin to regulate
CC       myotubularin intracellular location.
CC   -!- SUBUNIT: Interacts with myotubularin MTM1 and myotubularin-related
CC       MTMR2.
CC   -!- INTERACTION:
CC       Q13496:MTM1; NbExp=4; IntAct=EBI-2829520, EBI-2864109;
CC   -!- SUBCELLULAR LOCATION: Cytoplasm. Note=Localizes to punctate
CC       vesicles when associated with MTM1.
CC   -!- ALTERNATIVE PRODUCTS:
CC       Event=Alternative splicing; Named isoforms=3;
CC       Name=1;
CC         IsoId=Q9C0I1-1; Sequence=Displayed;
CC       Name=2;
CC         IsoId=Q9C0I1-2; Sequence=VSP_030722;
CC       Name=3;
CC         IsoId=Q9C0I1-3; Sequence=VSP_030721;
CC   -!- TISSUE SPECIFICITY: Ubiquitous with prominent expression in brain,
CC       heart, kidney, placenta, and lung.
CC   -!- SIMILARITY: Belongs to the protein-tyrosine phosphatase family.
CC       Non-receptor class myotubularin subfamily.
CC   -!- SIMILARITY: Contains 1 myotubularin phosphatase domain.
CC   -!- CAUTION: Lacks the phosphocysteine intermediate Cys active site in
CC       position 391 that is replaced by a Glu residue, preventing the
CC       hydrolase activity.
CC   -!- SEQUENCE CAUTION:
CC       Sequence=BAB21773.1; Type=Erroneous initiation;
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DR   EMBL; AY028703; AAK26171.1; -; mRNA.
DR   EMBL; AB051469; BAB21773.1; ALT_INIT; mRNA.
DR   EMBL; AK000483; BAA91195.1; -; mRNA.
DR   EMBL; BC057393; AAH57393.1; -; mRNA.
DR   EMBL; AL833231; CAH10604.1; -; mRNA.
DR   CCDS; CCDS34138.1; -. [Q9C0I1-1]
DR   RefSeq; NP_001035536.1; NM_001040446.1. [Q9C0I1-1]
DR   RefSeq; XP_005248373.1; XM_005248316.1. [Q9C0I1-3]
DR   UniGene; Hs.481836; -.
DR   ProteinModelPortal; Q9C0I1; -.
DR   SMR; Q9C0I1; 143-541.
DR   BioGrid; 120032; 2.
DR   IntAct; Q9C0I1; 4.
DR   MINT; MINT-8216953; -.
DR   STRING; 9606.ENSP00000371577; -.
DR   PhosphoSite; Q9C0I1; -.
DR   DMDM; 166199459; -.
DR   MaxQB; Q9C0I1; -.
DR   PaxDb; Q9C0I1; -.
DR   PRIDE; Q9C0I1; -.
DR   Ensembl; ENST00000264934; ENSP00000264934; ENSG00000150712. [Q9C0I1-3]
DR   Ensembl; ENST00000280285; ENSP00000280285; ENSG00000150712. [Q9C0I1-2]
DR   Ensembl; ENST00000382142; ENSP00000371577; ENSG00000150712. [Q9C0I1-1]
DR   GeneID; 54545; -.
DR   KEGG; hsa:54545; -.
DR   UCSC; uc003jhq.3; human. [Q9C0I1-1]
DR   UCSC; uc010iuk.3; human. [Q9C0I1-2]
DR   UCSC; uc010iul.3; human. [Q9C0I1-3]
DR   CTD; 54545; -.
DR   GeneCards; GC05M032227; -.
DR   H-InvDB; HIX0004786; -.
DR   HGNC; HGNC:18191; MTMR12.
DR   HPA; HPA051333; -.
DR   MIM; 606501; gene.
DR   neXtProt; NX_Q9C0I1; -.
DR   PharmGKB; PA128394670; -.
DR   eggNOG; NOG322133; -.
DR   HOGENOM; HOG000113684; -.
DR   HOVERGEN; HBG108154; -.
DR   InParanoid; Q9C0I1; -.
DR   KO; K18085; -.
DR   OMA; PTSGWKA; -.
DR   OrthoDB; EOG7K0ZBZ; -.
DR   PhylomeDB; Q9C0I1; -.
DR   TreeFam; TF315197; -.
DR   GenomeRNAi; 54545; -.
DR   NextBio; 56999; -.
DR   PRO; PR:Q9C0I1; -.
DR   ArrayExpress; Q9C0I1; -.
DR   Bgee; Q9C0I1; -.
DR   CleanEx; HS_MTMR12; -.
DR   Genevestigator; Q9C0I1; -.
DR   GO; GO:0005737; C:cytoplasm; IEA:UniProtKB-SubCell.
DR   GO; GO:0016791; F:phosphatase activity; IEA:InterPro.
DR   GO; GO:0005515; F:protein binding; IPI:IntAct.
DR   Gene3D; 2.30.29.30; -; 1.
DR   InterPro; IPR010569; Myotubularin-like_Pase_dom.
DR   InterPro; IPR022587; Myotubularin_assoc.
DR   InterPro; IPR011993; PH_like_dom.
DR   InterPro; IPR029021; Prot-tyrosine_phosphatase-like.
DR   Pfam; PF12578; 3-PAP; 1.
DR   Pfam; PF06602; Myotub-related; 2.
DR   SUPFAM; SSF52799; SSF52799; 2.
DR   PROSITE; PS51339; PPASE_MYOTUBULARIN; 1.
PE   1: Evidence at protein level;
KW   Alternative splicing; Complete proteome; Cytoplasm;
KW   Reference proteome.
FT   CHAIN         1    747       Myotubularin-related protein 12.
FT                                /FTId=PRO_0000315825.
FT   DOMAIN      205    643       Myotubularin phosphatase.
FT   REGION      449    558       Interaction with MTM1.
FT   VAR_SEQ     449    558       Missing (in isoform 3).
FT                                /FTId=VSP_030721.
FT   VAR_SEQ     505    558       Missing (in isoform 2).
FT                                /FTId=VSP_030722.
FT   CONFLICT    197    197       D -> V (in Ref. 3; BAA91195).
FT   CONFLICT    591    591       L -> M (in Ref. 1; AAK26171).
SQ   SEQUENCE   747 AA;  86148 MW;  1D11A678CC92F70B CRC64;
     MLGKGVVGGG GGTKAPKPSF VSYVRPEEIH TNEKEVTEKE VTLHLLPGEQ LLCEASTVLK
     YVQEDSCQHG VYGRLVCTDF KIAFLGDDES ALDNDETQFK NKVIGENDIT LHCVDQIYGV
     FDEKKKTLFG QLKKYPEKLI IHCKDLRVFQ FCLRYTKEEE VKRIVSGIIH HTQAPKLLKR
     LFLFSYATAA QNNTVTDPKN HTVMFDTLKD WCWELERTKG NMKYKAVSVN EGYKVCERLP
     AYFVVPTPLP EENVQRFQGH GIPIWCWSCH NGSALLKMSA LPKEQDDGIL QIQKSFLDGI
     YKTIHRPPYE IVKTEDLSSN FLSLQEIQTA YSKFKQLFLI DNSTEFWDTD IKWFSLLESS
     SWLDIIRRCL KKAIEITECM EAQNMNVLLL EENASDLCCL ISSLVQLMMD PHCRTRIGFQ
     SLIQKEWVMG GHCFLDRCNH LRQNDKEEVP VFLLFLDCVW QLVHQHPPAF EFTETYLTVL
     SDSLYIPIFS TFFFNSPHQK DTNMGREGQD TQSKPLNLLT VWDWSVQFEP KAQTLLKNPL
     YVEKPKLDKG QRKGMRFKHQ RQLSLPLTQS KSSPKRGFFR EETDHLIKNL LGKRISKLIN
     SSDELQDNFR EFYDSWHSKS TDYHGLLLPH IEGPEIKVWA QRYLRWIPEA QILGGGQVAT
     LSKLLEMMEE VQSLQEKIDE RHHSQQAPQA EAPCLLRNSA RLSSLFPFAL LQRHSSKPVL
     PTSGWKALGD EDDLAKREDE FVDLGDV
//
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