MTMRA_HUMAN
ID MTMRA_HUMAN Reviewed; 777 AA.
AC Q9NXD2; Q6P4Q6;
DT 17-APR-2007, integrated into UniProtKB/Swiss-Prot.
DT 25-NOV-2008, sequence version 3.
DT 03-AUG-2022, entry version 144.
DE RecName: Full=Myotubularin-related protein 10;
DE AltName: Full=Inactive phosphatidylinositol 3-phosphatase 10 {ECO:0000305};
GN Name=MTMR10;
OS Homo sapiens (Human).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae;
OC Homo.
OX NCBI_TaxID=9606;
RN [1]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
RC TISSUE=Hepatoma;
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., Sudo H.,
RA Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M.,
RA Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K.,
RA Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T.,
RA Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M.,
RA Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S.,
RA Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H.,
RA Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K.,
RA Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N.,
RA Aotsuka S., 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., Fujimori Y.,
RA Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K.,
RA Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T.,
RA Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T.,
RA Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y.,
RA Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H.,
RA Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y.,
RA Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H.,
RA Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O.,
RA 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 [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
RC TISSUE=Spinal cord;
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., Heubner D.,
RA Hoerlein A., Michel G., Wedler H., Koehrer K., Ottenwaelder B., Poustka A.,
RA Wiemann S., Schupp I.;
RT "The full-ORF clone resource of the German cDNA consortium.";
RL BMC Genomics 8:399-399(2007).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=16572171; DOI=10.1038/nature04601;
RA Zody M.C., Garber M., Sharpe T., Young S.K., Rowen L., O'Neill K.,
RA Whittaker C.A., Kamal M., Chang J.L., Cuomo C.A., Dewar K.,
RA FitzGerald M.G., Kodira C.D., Madan A., Qin S., Yang X., Abbasi N.,
RA Abouelleil A., Arachchi H.M., Baradarani L., Birditt B., Bloom S.,
RA Bloom T., Borowsky M.L., Burke J., Butler J., Cook A., DeArellano K.,
RA DeCaprio D., Dorris L. III, Dors M., Eichler E.E., Engels R., Fahey J.,
RA Fleetwood P., Friedman C., Gearin G., Hall J.L., Hensley G., Johnson E.,
RA Jones C., Kamat A., Kaur A., Locke D.P., Madan A., Munson G., Jaffe D.B.,
RA Lui A., Macdonald P., Mauceli E., Naylor J.W., Nesbitt R., Nicol R.,
RA O'Leary S.B., Ratcliffe A., Rounsley S., She X., Sneddon K.M.B.,
RA Stewart S., Sougnez C., Stone S.M., Topham K., Vincent D., Wang S.,
RA Zimmer A.R., Birren B.W., Hood L., Lander E.S., Nusbaum C.;
RT "Analysis of the DNA sequence and duplication history of human chromosome
RT 15.";
RL Nature 440:671-675(2006).
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 3).
RC TISSUE=Placenta;
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 project:
RT the Mammalian Gene Collection (MGC).";
RL Genome Res. 14:2121-2127(2004).
RN [5]
RP IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RC TISSUE=Cervix carcinoma;
RX PubMed=20068231; DOI=10.1126/scisignal.2000475;
RA Olsen J.V., Vermeulen M., Santamaria A., Kumar C., Miller M.L.,
RA Jensen L.J., Gnad F., Cox J., Jensen T.S., Nigg E.A., Brunak S., Mann M.;
RT "Quantitative phosphoproteomics reveals widespread full phosphorylation
RT site occupancy during mitosis.";
RL Sci. Signal. 3:RA3-RA3(2010).
RN [6]
RP IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RX PubMed=21406692; DOI=10.1126/scisignal.2001570;
RA Rigbolt K.T., Prokhorova T.A., Akimov V., Henningsen J., Johansen P.T.,
RA Kratchmarova I., Kassem M., Mann M., Olsen J.V., Blagoev B.;
RT "System-wide temporal characterization of the proteome and phosphoproteome
RT of human embryonic stem cell differentiation.";
RL Sci. Signal. 4:RS3-RS3(2011).
RN [7]
RP PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-607 AND SER-751, AND
RP IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RC TISSUE=Liver;
RX PubMed=24275569; DOI=10.1016/j.jprot.2013.11.014;
RA Bian Y., Song C., Cheng K., Dong M., Wang F., Huang J., Sun D., Wang L.,
RA Ye M., Zou H.;
RT "An enzyme assisted RP-RPLC approach for in-depth analysis of human liver
RT phosphoproteome.";
RL J. Proteomics 96:253-262(2014).
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=3;
CC Name=1;
CC IsoId=Q9NXD2-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q9NXD2-2; Sequence=VSP_035774, VSP_024467, VSP_024468;
CC Name=3;
CC IsoId=Q9NXD2-3; Sequence=VSP_024465, VSP_024466;
CC -!- MISCELLANEOUS: [Isoform 3]: May be produced at very low levels due to a
CC premature stop codon in the mRNA, leading to nonsense-mediated mRNA
CC decay. {ECO:0000305}.
CC -!- SIMILARITY: Belongs to the protein-tyrosine phosphatase family. Non-
CC receptor class myotubularin subfamily. {ECO:0000305}.
CC -!- CAUTION: Although it belongs to the non-receptor class myotubularin
CC subfamily, lacks the conserved active site cysteine residue at position
CC 403 in the dsPTPase catalytic loop, suggesting that it has no
CC phosphatase activity. {ECO:0000305}.
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DR EMBL; AK000320; BAA91083.1; -; mRNA.
DR EMBL; AL832603; -; NOT_ANNOTATED_CDS; mRNA.
DR EMBL; AC090829; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; BC063296; -; NOT_ANNOTATED_CDS; mRNA.
DR CCDS; CCDS45204.1; -. [Q9NXD2-1]
DR RefSeq; NP_060232.2; NM_017762.2. [Q9NXD2-1]
DR AlphaFoldDB; Q9NXD2; -.
DR SMR; Q9NXD2; -.
DR BioGRID; 120240; 40.
DR IntAct; Q9NXD2; 11.
DR MINT; Q9NXD2; -.
DR STRING; 9606.ENSP00000402537; -.
DR DEPOD; MTMR10; -.
DR iPTMnet; Q9NXD2; -.
DR PhosphoSitePlus; Q9NXD2; -.
DR BioMuta; MTMR10; -.
DR DMDM; 215274131; -.
DR EPD; Q9NXD2; -.
DR jPOST; Q9NXD2; -.
DR MassIVE; Q9NXD2; -.
DR MaxQB; Q9NXD2; -.
DR PaxDb; Q9NXD2; -.
DR PeptideAtlas; Q9NXD2; -.
DR PRIDE; Q9NXD2; -.
DR ProteomicsDB; 83076; -. [Q9NXD2-1]
DR ProteomicsDB; 83077; -. [Q9NXD2-2]
DR ProteomicsDB; 83078; -. [Q9NXD2-3]
DR Antibodypedia; 65234; 34 antibodies from 13 providers.
DR DNASU; 54893; -.
DR Ensembl; ENST00000435680.6; ENSP00000402537.1; ENSG00000166912.17. [Q9NXD2-1]
DR Ensembl; ENST00000563714.5; ENSP00000457390.1; ENSG00000166912.17. [Q9NXD2-2]
DR Ensembl; ENST00000568604.5; ENSP00000457903.1; ENSG00000166912.17. [Q9NXD2-3]
DR Ensembl; ENST00000621195.3; ENSP00000484437.1; ENSG00000277086.3. [Q9NXD2-1]
DR GeneID; 54893; -.
DR KEGG; hsa:54893; -.
DR MANE-Select; ENST00000435680.6; ENSP00000402537.1; NM_017762.3; NP_060232.2.
DR UCSC; uc001zfj.3; human. [Q9NXD2-1]
DR CTD; 54893; -.
DR DisGeNET; 54893; -.
DR GeneCards; MTMR10; -.
DR HGNC; HGNC:25999; MTMR10.
DR HPA; ENSG00000166912; Tissue enhanced (brain).
DR MalaCards; MTMR10; -.
DR neXtProt; NX_Q9NXD2; -.
DR OpenTargets; ENSG00000166912; -.
DR PharmGKB; PA128394676; -.
DR VEuPathDB; HostDB:ENSG00000166912; -.
DR eggNOG; KOG1089; Eukaryota.
DR GeneTree; ENSGT00940000156900; -.
DR HOGENOM; CLU_021912_1_0_1; -.
DR InParanoid; Q9NXD2; -.
DR OMA; DKMFFSN; -.
DR PhylomeDB; Q9NXD2; -.
DR TreeFam; TF315197; -.
DR PathwayCommons; Q9NXD2; -.
DR Reactome; R-HSA-1660516; Synthesis of PIPs at the early endosome membrane.
DR SignaLink; Q9NXD2; -.
DR BioGRID-ORCS; 54893; 15 hits in 1083 CRISPR screens.
DR ChiTaRS; MTMR10; human.
DR GenomeRNAi; 54893; -.
DR Pharos; Q9NXD2; Tdark.
DR PRO; PR:Q9NXD2; -.
DR Proteomes; UP000005640; Chromosome 15.
DR RNAct; Q9NXD2; protein.
DR Bgee; ENSG00000166912; Expressed in corpus callosum and 187 other tissues.
DR ExpressionAtlas; Q9NXD2; baseline and differential.
DR Genevisible; Q9NXD2; HS.
DR GO; GO:0005737; C:cytoplasm; IDA:UniProtKB.
DR GO; GO:0005829; C:cytosol; TAS:Reactome.
DR GO; GO:0004438; F:phosphatidylinositol-3-phosphatase activity; IBA:GO_Central.
DR GO; GO:0046856; P:phosphatidylinositol dephosphorylation; IBA:GO_Central.
DR CDD; cd13346; PH-GRAM_MTMR10; 1.
DR Gene3D; 2.30.29.30; -; 1.
DR InterPro; IPR030573; MTMR10.
DR InterPro; IPR036004; MTMR10_PH-GRAM.
DR InterPro; IPR022587; MTMR12-like_C.
DR InterPro; IPR010569; Myotubularin-like_Pase_dom.
DR InterPro; IPR030564; Myotubularin_fam.
DR InterPro; IPR011993; PH-like_dom_sf.
DR InterPro; IPR029021; Prot-tyrosine_phosphatase-like.
DR PANTHER; PTHR10807; PTHR10807; 1.
DR PANTHER; PTHR10807:SF39; PTHR10807:SF39; 1.
DR Pfam; PF12578; 3-PAP; 1.
DR Pfam; PF06602; Myotub-related; 2.
DR SUPFAM; SSF52799; SSF52799; 1.
DR PROSITE; PS51339; PPASE_MYOTUBULARIN; 1.
PE 1: Evidence at protein level;
KW Alternative splicing; Phosphoprotein; Reference proteome.
FT CHAIN 1..777
FT /note="Myotubularin-related protein 10"
FT /id="PRO_0000284360"
FT DOMAIN 221..661
FT /note="Myotubularin phosphatase"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00669"
FT REGION 196..217
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT MOD_RES 607
FT /note="Phosphoserine"
FT /evidence="ECO:0007744|PubMed:24275569"
FT MOD_RES 751
FT /note="Phosphoserine"
FT /evidence="ECO:0007744|PubMed:24275569"
FT VAR_SEQ 1..82
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_035774"
FT VAR_SEQ 159..218
FT /note="VCLAIAHYSQPTDLQLLFAFEYVGKKYHNSANKINGIPSGDGGGGGGGGNGA
FT GGGSSQKT -> QTKLMEFPQEMEEEEEEEVMELVVAAARKLHSLKLTRIGTEKSRGQV
FT LPGGEFVLLTRVT (in isoform 3)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_024465"
FT VAR_SEQ 219..777
FT /note="Missing (in isoform 3)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_024466"
FT VAR_SEQ 517..533
FT /note="EFAISKNIQLGDEKGLK -> VSRIKSCTKQDYFPSRV (in isoform
FT 2)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_024467"
FT VAR_SEQ 534..777
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_024468"
FT VARIANT 648
FT /note="R -> H (in dbSNP:rs6493352)"
FT /id="VAR_047539"
FT CONFLICT 342
FT /note="V -> I (in Ref. 2; AL832603)"
FT /evidence="ECO:0000305"
FT CONFLICT 710
FT /note="E -> G (in Ref. 2; AL832603)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 777 AA; 88273 MW; B2160728E16E0A98 CRC64;
MFSLKPPKPT FRSYLLPPPQ TDDKINSEPK IKKLEPVLLP GEIVVNEVNF VRKCIATDTS
QYDLWGKLIC SNFKISFITD DPMPLQKFHY RNLLLGEHDV PLTCIEQIVT VNDHKRKQKV
LGPNQKLKFN PTELIIYCKD FRIVRFRFDE SGPESAKKVC LAIAHYSQPT DLQLLFAFEY
VGKKYHNSAN KINGIPSGDG GGGGGGGNGA GGGSSQKTPL FETYSDWDRE IKRTGASGWR
VCSINEGYMI STCLPEYIVV PSSLADQDLK IFSHSFVGRR MPLWCWSHSN GSALVRMALI
KDVLQQRKID QRICNAITKS HPQRSDVYKS DLDKTLPNIQ EVQAAFVKLK QLCVNEPFEE
TEEKWLSSLE NTRWLEYVRA FLKHSAELVY MLESKHLSVV LQEEEGRDLS CCVASLVQVM
LDPYFRTITG FQSLIQKEWV MAGYQFLDRC NHLKRSEKES PLFLLFLDAT WQLLEQYPAA
FEFSETYLAV LYDSTRISLF GTFLFNSPHQ RVKQSTEFAI SKNIQLGDEK GLKFPSVWDW
SLQFTAKDRT LFHNPFYIGK STPCIQNGSV KSFKRTKKSY SSTLRGMPSA LKNGIISDQE
LLPRRNSLIL KPKPDPAQQT DSQNSDTEQY FREWFSKPAN LHGVILPRVS GTHIKLWKLC
YFRWVPEAQI SLGGSITAFH KLSLLADEVD VLSRMLRQQR SGPLEACYGE LGQSRMYFNA
SGPHHTDTSG TPEFLSSSFP FSPVGNLCRR SILGTPLSKF LSGAKIWLST ETLANED
