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 03-APR-2013, entry version 64.
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 -!- 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 IPI; IPI00061280; -.
DR IPI; IPI00301793; -.
DR IPI; IPI00448020; -.
DR RefSeq; NP_001035536.1; NM_001040446.1.
DR UniGene; Hs.481836; -.
DR ProteinModelPortal; Q9C0I1; -.
DR IntAct; Q9C0I1; 1.
DR STRING; 9606.ENSP00000371577; -.
DR PhosphoSite; Q9C0I1; -.
DR DMDM; 166199459; -.
DR PaxDb; Q9C0I1; -.
DR PRIDE; Q9C0I1; -.
DR Ensembl; ENST00000264934; ENSP00000264934; ENSG00000150712.
DR Ensembl; ENST00000280285; ENSP00000280285; ENSG00000150712.
DR Ensembl; ENST00000382142; ENSP00000371577; ENSG00000150712.
DR GeneID; 54545; -.
DR KEGG; hsa:54545; -.
DR UCSC; uc003jhq.3; human.
DR UCSC; uc010iuk.3; human.
DR UCSC; uc010iul.3; human.
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 OMA; QRHSSKP; -.
DR GenomeRNAi; 54545; -.
DR NextBio; 56999; -.
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 Gene3D; 2.30.29.30; -; 1.
DR InterPro; IPR022587; Myotubularin_assoc.
DR InterPro; IPR017906; Myotubularin_phosphatase_dom.
DR InterPro; IPR011993; PH_like_dom.
DR Pfam; PF12578; 3-PAP; 1.
DR PROSITE; PS51339; PPASE_MYOTUBULARIN; 1.
DR PROSITE; PS00383; TYR_PHOSPHATASE_1; FALSE_NEG.
DR PROSITE; PS50056; TYR_PHOSPHATASE_2; FALSE_NEG.
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
//
