MTMRB_HUMAN
ID MTMRB_HUMAN Reviewed; 709 AA.
AC A4FU01; B3KUE4; B4DJI6; B4DQF5; B4E3Q6; Q3ZCP7; Q5SZ62; Q6P2Q8; Q99752;
AC Q99753;
DT 20-MAY-2008, integrated into UniProtKB/Swiss-Prot.
DT 20-MAY-2008, sequence version 2.
DT 03-AUG-2022, entry version 116.
DE RecName: Full=Myotubularin-related protein 11;
DE AltName: Full=Cisplatin resistance-associated protein;
DE Short=hCRA;
DE AltName: Full=Inactive phosphatidylinositol 3-phosphatase 11 {ECO:0000305};
GN Name=MTMR11;
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 [MRNA] (ISOFORMS 2 AND 5).
RC TISSUE=Ovary tumor, Small intestine, Thalamus, and Uterus;
RA Tanimura H., Ledakis P., Fojo T.;
RL Submitted (NOV-1996) to the EMBL/GenBank/DDBJ databases.
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1; 2; 4 AND 6).
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 [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=16710414; DOI=10.1038/nature04727;
RA Gregory S.G., Barlow K.F., McLay K.E., Kaul R., Swarbreck D., Dunham A.,
RA Scott C.E., Howe K.L., Woodfine K., Spencer C.C.A., Jones M.C., Gillson C.,
RA Searle S., Zhou Y., Kokocinski F., McDonald L., Evans R., Phillips K.,
RA Atkinson A., Cooper R., Jones C., Hall R.E., Andrews T.D., Lloyd C.,
RA Ainscough R., Almeida J.P., Ambrose K.D., Anderson F., Andrew R.W.,
RA Ashwell R.I.S., Aubin K., Babbage A.K., Bagguley C.L., Bailey J.,
RA Beasley H., Bethel G., Bird C.P., Bray-Allen S., Brown J.Y., Brown A.J.,
RA Buckley D., Burton J., Bye J., Carder C., Chapman J.C., Clark S.Y.,
RA Clarke G., Clee C., Cobley V., Collier R.E., Corby N., Coville G.J.,
RA Davies J., Deadman R., Dunn M., Earthrowl M., Ellington A.G., Errington H.,
RA Frankish A., Frankland J., French L., Garner P., Garnett J., Gay L.,
RA Ghori M.R.J., Gibson R., Gilby L.M., Gillett W., Glithero R.J.,
RA Grafham D.V., Griffiths C., Griffiths-Jones S., Grocock R., Hammond S.,
RA Harrison E.S.I., Hart E., Haugen E., Heath P.D., Holmes S., Holt K.,
RA Howden P.J., Hunt A.R., Hunt S.E., Hunter G., Isherwood J., James R.,
RA Johnson C., Johnson D., Joy A., Kay M., Kershaw J.K., Kibukawa M.,
RA Kimberley A.M., King A., Knights A.J., Lad H., Laird G., Lawlor S.,
RA Leongamornlert D.A., Lloyd D.M., Loveland J., Lovell J., Lush M.J.,
RA Lyne R., Martin S., Mashreghi-Mohammadi M., Matthews L., Matthews N.S.W.,
RA McLaren S., Milne S., Mistry S., Moore M.J.F., Nickerson T., O'Dell C.N.,
RA Oliver K., Palmeiri A., Palmer S.A., Parker A., Patel D., Pearce A.V.,
RA Peck A.I., Pelan S., Phelps K., Phillimore B.J., Plumb R., Rajan J.,
RA Raymond C., Rouse G., Saenphimmachak C., Sehra H.K., Sheridan E.,
RA Shownkeen R., Sims S., Skuce C.D., Smith M., Steward C., Subramanian S.,
RA Sycamore N., Tracey A., Tromans A., Van Helmond Z., Wall M., Wallis J.M.,
RA White S., Whitehead S.L., Wilkinson J.E., Willey D.L., Williams H.,
RA Wilming L., Wray P.W., Wu Z., Coulson A., Vaudin M., Sulston J.E.,
RA Durbin R.M., Hubbard T., Wooster R., Dunham I., Carter N.P., McVean G.,
RA Ross M.T., Harrow J., Olson M.V., Beck S., Rogers J., Bentley D.R.;
RT "The DNA sequence and biological annotation of human chromosome 1.";
RL Nature 441:315-321(2006).
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RA Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M.,
RA Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J.,
RA Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S.,
RA Turner R., Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H.,
RA Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K.,
RA Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D.,
RA Hunkapiller M.W., Myers E.W., Venter J.C.;
RL Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases.
RN [5]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 2 AND 3), NUCLEOTIDE
RP SEQUENCE [LARGE SCALE MRNA] OF 31-709 (ISOFORM 1), AND VARIANT VAL-159.
RC TISSUE=Ovary;
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 [6]
RP TISSUE SPECIFICITY.
RX PubMed=17498563; DOI=10.1016/j.cancergencyto.2007.01.011;
RA La Starza R., Crescenzi B., Pierini V., Romoli S., Gorello P.,
RA Brandimarte L., Matteucci C., Kropp M.G., Barba G., Martelli M.F.,
RA Mecucci C.;
RT "A common 93-kb duplicated DNA sequence at 1q21.2 in acute lymphoblastic
RT leukemia and Burkitt lymphoma.";
RL Cancer Genet. Cytogenet. 175:73-76(2007).
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=6;
CC Name=1;
CC IsoId=A4FU01-1; Sequence=Displayed;
CC Name=2; Synonyms=hCRA alpha;
CC IsoId=A4FU01-2; Sequence=VSP_033887, VSP_033888;
CC Name=3;
CC IsoId=A4FU01-3; Sequence=VSP_033884, VSP_033887, VSP_033888;
CC Name=4;
CC IsoId=A4FU01-4; Sequence=VSP_033883, VSP_033885, VSP_033890;
CC Name=5; Synonyms=hCRA beta;
CC IsoId=A4FU01-5; Sequence=VSP_033886, VSP_033889;
CC Name=6;
CC IsoId=A4FU01-6; Sequence=VSP_033884, VSP_035725, VSP_035726;
CC -!- TISSUE SPECIFICITY: Expressed in bone marrow, spleen and thymus.
CC {ECO:0000269|PubMed:17498563}.
CC -!- MISCELLANEOUS: [Isoform 2]: 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 -!- 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 375 in the dsPTPase catalytic loop, suggesting that it has no
CC phosphatase activity. {ECO:0000305}.
CC -!- SEQUENCE CAUTION:
CC Sequence=AAB36952.1; Type=Frameshift; Evidence={ECO:0000305};
CC Sequence=AAB36953.1; Type=Frameshift; Evidence={ECO:0000305};
CC Sequence=AAH94756.1; Type=Erroneous initiation; Evidence={ECO:0000305};
CC ---------------------------------------------------------------------------
CC Copyrighted by the UniProt Consortium, see https://www.uniprot.org/terms
CC Distributed under the Creative Commons Attribution (CC BY 4.0) License
CC ---------------------------------------------------------------------------
DR EMBL; U78556; AAB36952.1; ALT_FRAME; mRNA.
DR EMBL; U78557; AAB36953.1; ALT_FRAME; mRNA.
DR EMBL; AK097000; BAG53406.1; -; mRNA.
DR EMBL; AK296094; BAG58848.1; -; mRNA.
DR EMBL; AK298775; BAG60917.1; -; mRNA.
DR EMBL; AK304820; BAG65568.1; -; mRNA.
DR EMBL; AL590487; CAI12649.1; -; Genomic_DNA.
DR EMBL; CH471121; EAW53589.1; -; Genomic_DNA.
DR EMBL; CH471121; EAW53590.1; -; Genomic_DNA.
DR EMBL; CH471121; EAW53594.1; -; Genomic_DNA.
DR EMBL; BC064372; -; NOT_ANNOTATED_CDS; mRNA.
DR EMBL; BC094756; AAH94756.1; ALT_INIT; mRNA.
DR EMBL; BC100818; AAI00819.1; -; mRNA.
DR EMBL; BC100819; AAI00820.1; -; mRNA.
DR EMBL; BC100820; AAI00821.1; -; mRNA.
DR CCDS; CCDS72901.1; -. [A4FU01-4]
DR CCDS; CCDS72902.1; -. [A4FU01-1]
DR RefSeq; NP_001139334.1; NM_001145862.1. [A4FU01-1]
DR RefSeq; NP_870988.2; NM_181873.3. [A4FU01-4]
DR AlphaFoldDB; A4FU01; -.
DR SMR; A4FU01; -.
DR BioGRID; 116109; 19.
DR IntAct; A4FU01; 16.
DR MINT; A4FU01; -.
DR STRING; 9606.ENSP00000391668; -.
DR DEPOD; MTMR11; -.
DR iPTMnet; A4FU01; -.
DR PhosphoSitePlus; A4FU01; -.
DR BioMuta; MTMR11; -.
DR EPD; A4FU01; -.
DR jPOST; A4FU01; -.
DR MassIVE; A4FU01; -.
DR MaxQB; A4FU01; -.
DR PaxDb; A4FU01; -.
DR PeptideAtlas; A4FU01; -.
DR PRIDE; A4FU01; -.
DR ProteomicsDB; 656; -. [A4FU01-1]
DR ProteomicsDB; 657; -. [A4FU01-2]
DR ProteomicsDB; 658; -. [A4FU01-3]
DR ProteomicsDB; 659; -. [A4FU01-4]
DR ProteomicsDB; 660; -. [A4FU01-5]
DR ProteomicsDB; 661; -. [A4FU01-6]
DR Antibodypedia; 34015; 52 antibodies from 13 providers.
DR DNASU; 10903; -.
DR Ensembl; ENST00000369140.7; ENSP00000358136.3; ENSG00000014914.21. [A4FU01-4]
DR Ensembl; ENST00000439741.4; ENSP00000391668.2; ENSG00000014914.21. [A4FU01-1]
DR GeneID; 10903; -.
DR KEGG; hsa:10903; -.
DR MANE-Select; ENST00000439741.4; ENSP00000391668.2; NM_001145862.2; NP_001139334.1.
DR UCSC; uc001etl.5; human. [A4FU01-1]
DR CTD; 10903; -.
DR DisGeNET; 10903; -.
DR GeneCards; MTMR11; -.
DR HGNC; HGNC:24307; MTMR11.
DR HPA; ENSG00000014914; Tissue enhanced (intestine).
DR neXtProt; NX_A4FU01; -.
DR OpenTargets; ENSG00000014914; -.
DR PharmGKB; PA142671303; -.
DR VEuPathDB; HostDB:ENSG00000014914; -.
DR eggNOG; KOG1089; Eukaryota.
DR GeneTree; ENSGT00940000160276; -.
DR HOGENOM; CLU_021912_1_0_1; -.
DR InParanoid; A4FU01; -.
DR OMA; YTPEYSQ; -.
DR OrthoDB; 620702at2759; -.
DR PhylomeDB; A4FU01; -.
DR TreeFam; TF315197; -.
DR PathwayCommons; A4FU01; -.
DR SignaLink; A4FU01; -.
DR BioGRID-ORCS; 10903; 12 hits in 1071 CRISPR screens.
DR ChiTaRS; MTMR11; human.
DR GenomeRNAi; 10903; -.
DR Pharos; A4FU01; Tdark.
DR PRO; PR:A4FU01; -.
DR Proteomes; UP000005640; Chromosome 1.
DR RNAct; A4FU01; protein.
DR Bgee; ENSG00000014914; Expressed in mucosa of transverse colon and 131 other tissues.
DR Genevisible; A4FU01; HS.
DR GO; GO:0005737; C:cytoplasm; IDA:UniProtKB.
DR GO; GO:0070062; C:extracellular exosome; HDA:UniProtKB.
DR GO; GO:0004438; F:phosphatidylinositol-3-phosphatase activity; IBA:GO_Central.
DR GO; GO:0046856; P:phosphatidylinositol dephosphorylation; IBA:GO_Central.
DR InterPro; IPR030580; MTMR11.
DR InterPro; IPR022587; MTMR12-like_C.
DR InterPro; IPR010569; Myotubularin-like_Pase_dom.
DR InterPro; IPR030564; Myotubularin_fam.
DR InterPro; IPR029021; Prot-tyrosine_phosphatase-like.
DR PANTHER; PTHR10807; PTHR10807; 1.
DR PANTHER; PTHR10807:SF51; PTHR10807:SF51; 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 2: Evidence at transcript level;
KW Alternative splicing; Reference proteome.
FT CHAIN 1..709
FT /note="Myotubularin-related protein 11"
FT /id="PRO_0000337098"
FT DOMAIN 196..639
FT /note="Myotubularin phosphatase"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00669"
FT REGION 1..39
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT VAR_SEQ 1..72
FT /note="Missing (in isoform 4)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_033883"
FT VAR_SEQ 1..28
FT /note="Missing (in isoform 3 and isoform 6)"
FT /evidence="ECO:0000303|PubMed:14702039,
FT ECO:0000303|PubMed:15489334"
FT /id="VSP_033884"
FT VAR_SEQ 73..75
FT /note="TNF -> MPP (in isoform 4)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_033885"
FT VAR_SEQ 228..272
FT /note="SLPRYFWVPNRILDSEVRRAFGHFHQGRGPRLSWHHPGGSDLLRC -> RLR
FT CFSSSLIVSGSSSSSFQLILNSLSFSFLLFMTVSGFLTPLPS (in isoform 5)"
FT /evidence="ECO:0000303|Ref.1"
FT /id="VSP_033886"
FT VAR_SEQ 258..268
FT /note="RLSWHHPGGSD -> VSVMVRVMAVD (in isoform 2 and isoform
FT 3)"
FT /evidence="ECO:0000303|PubMed:14702039,
FT ECO:0000303|PubMed:15489334, ECO:0000303|Ref.1"
FT /id="VSP_033887"
FT VAR_SEQ 269..709
FT /note="Missing (in isoform 2 and isoform 3)"
FT /evidence="ECO:0000303|PubMed:14702039,
FT ECO:0000303|PubMed:15489334, ECO:0000303|Ref.1"
FT /id="VSP_033888"
FT VAR_SEQ 273..709
FT /note="Missing (in isoform 5)"
FT /evidence="ECO:0000303|Ref.1"
FT /id="VSP_033889"
FT VAR_SEQ 375..382
FT /note="ERGDRDLN -> GSGVSPLP (in isoform 6)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_035725"
FT VAR_SEQ 383..709
FT /note="Missing (in isoform 6)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_035726"
FT VAR_SEQ 703..709
FT /note="RAEGDLG -> QSHPFWITRC (in isoform 4)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_033890"
FT VARIANT 159
FT /note="M -> V (in dbSNP:rs11205303)"
FT /evidence="ECO:0000269|PubMed:15489334"
FT /id="VAR_043598"
FT VARIANT 531
FT /note="Q -> P (in dbSNP:rs16836857)"
FT /id="VAR_043599"
FT CONFLICT 86
FT /note="W -> R (in Ref. 2; BAG60917)"
FT /evidence="ECO:0000305"
FT CONFLICT 165
FT /note="R -> G (in Ref. 2; BAG60917)"
FT /evidence="ECO:0000305"
FT CONFLICT 263
FT /note="H -> R (in Ref. 2; BAG53406)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 709 AA; 79545 MW; AC07581E26364D1F CRC64;
MWWGGRGQSF NIAPQKEEPE MGSVQENRMP EPRSRQPSSC LASRCLPGEQ ILAWAPGVRK
GLEPELSGTL ICTNFRVTFQ PCGWQWNQDT PLNSEYDFAL VNIGRLEAVS GLSRVQLLRP
GSLHKFIPEE ILIHGRDFRL LRVGFEAGGL EPQAFQVTMA IVQARAQSNQ AQQYSGITLS
KAGQGSGSRK PPIPLMETAE DWETERKKQA ARGWRVSTVN ERFDVATSLP RYFWVPNRIL
DSEVRRAFGH FHQGRGPRLS WHHPGGSDLL RCGGFYTASD PNKEDIRAVE LMLQAGHSDV
VLVDTMDELP SLADVQLAHL RLRALCLPDS SVAEDKWLSA LEGTRWLDYV RACLRKASDI
SVLVTSRVRS VILQERGDRD LNGLLSSLVQ LLSAPEARTL FGFQSLVQRE WVAAGHPFLT
RLGGTGASEE APVFLLFLDC VWQLLQQFPA DFEFSEFFLL ALHDSVRVPD TLTFLRNTPW
ERGKQSGQLN SYTQVYTPGY SQPPAGNSFN LQLSVWDWDL RYSNAQILQF QNPGYDPEHC
PDSWLPRPQP SFMVPGPPSS VWLFSRGALT PLNQLCPWRD SPSLLAVSSR WLPRPAISSE
SLADQEWGLP SHWGACPLPP GLLLPGYLGP QIRLWRRCYL RGRPEVQMGL SAPTISGLQD
ELSHLQELLR KWTPRISPED HSKKRDPHTI LNPTEIAGIL KGRAEGDLG
