(data stored in ACNUC9435 zone)

HOGENOM: HS11_PE2695

ID   HS11_PE2695                          STANDARD;      PRT;   643 AA.
AC   HS11_PE2695; Q13614; Q9UPS9;
DT   00-JAN-0000 (Rel. 1, Created)
DT   00-JAN-0000 (Rel. 2, Last sequence update)
DT   00-JAN-0000 (Rel. 3, Last annotation update)
DE   RecName: Full=Myotubularin-related protein 2; EC=3.1.3 -; (HS11.PE2695).
GN   Name=MTMR2; Synonyms=KIAA1073;
OS   HOMO SAPIENS.
OC   Eukaryota; Metazoa; Eumetazoa; Bilateria; Coelomata; Deuterostomia;
OC   Chordata; Craniata; Vertebrata; Gnathostomata; Teleostomi; Euteleostomi;
OC   Sarcopterygii; Tetrapoda; Amniota; Mammalia; Theria; Eutheria;
OC   Euarchontoglires; Primates; Haplorrhini; Simiiformes; Catarrhini;
OC   Hominoidea; Hominidae; Homininae; Homo.
OX   NCBI_TaxID=9606;
RN   [0]
RP   -.;
RG   -.;
RL   -.;
CC   -!- SEQ. DATA ORIGIN: Translated from the HOGENOM CDS HS11.PE2695.
CC       Homo sapiens chromosome 11 GRCh37  sequence 1..134946516 annotated by
CC       Ensembl
CC   -!- ANNOTATIONS ORIGIN:MTMR2_HUMAN
CC   -!- FUNCTION: Phosphatase that acts on lipids with a phosphoinositol
CC       headgroup. Has phosphatase activity towards phosphatidylinositol-
CC       3-phosphate and phosphatidylinositol-3,5-bisphosphate.
CC   -!- ENZYME REGULATION: interaction with SBF1 increases phosphatase
CC       activity.
CC   -!- SUBUNIT: Homooligomer and heterooligomer. Interacts with SBF1 and
CC       SBF2.
CC   -!- INTERACTION:
CC       P07196:NEFL; NbExp=2; IntAct=EBI-475631, EBI-475646;
CC   -!- SUBCELLULAR LOCATION: Cytoplasm. Membrane; Peripheral membrane
CC       protein. Note=Partly associated with membranes.
CC   -!- DOMAIN: The coiled-coil domain mediates interaction with SBF2.
CC   -!- DISEASE: Defects in MTMR2 are the cause of Charcot-Marie-Tooth
CC       disease type 4B1 (CMT4B1) [MIM:601382]. CMT4B1 is a recessive,
CC       severe form of Charcot-Marie-Tooth disease, the most common
CC       inherited disorder of the peripheral nervous system. Charcot-
CC       Marie-Tooth disease is classified in two main groups on the basis
CC       of electrophysiologic properties and histopathology: primary
CC       peripheral demyelinating neuropathy and primary peripheral axonal
CC       neuropathy. Demyelinating CMT neuropathies are characterized by
CC       severely reduced nerve conduction velocities (less than 38 m/sec),
CC       segmental demyelination and remyelination with onion bulb
CC       formations on nerve biopsy, slowly progressive distal muscle
CC       atrophy and weakness, absent deep tendon reflexes, and hollow
CC       feet. By convention, autosomal recessive forms of demyelinating
CC       Charcot-Marie-Tooth disease are designated CMT4.
CC   -!- SIMILARITY: Belongs to the protein-tyrosine phosphatase family.
CC       Non-receptor class myotubularin subfamily.
CC   -!- SIMILARITY: Contains 1 GRAM domain.
CC   -!- SIMILARITY: Contains 1 myotubularin phosphatase domain.
CC   -!- SEQUENCE CAUTION:
CC       Sequence=BAA83025.2; Type=Erroneous initiation;
CC   -!- WEB RESOURCE: Name=Inherited peripheral neuropathies mutation db;
CC       URL="http://www.molgen.ua.ac.be/CMTMutations/";
CC   -!- WEB RESOURCE: Name=GeneReviews;
CC       URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/MTMR2";
CC   -!- GENE_FAMILY: HOG000210598 [ FAMILY / ALN / TREE ]
DR   HOGENOM:Homo_sapiens;ENSG00000087053;ENST00000346299;ENSP00000345752.
DR   EMBL; AB028996; - ;
DR   EMBL; AK291277; - ;
DR   EMBL; AK293243; - ;
DR   EMBL; AK302940; - ;
DR   EMBL; AP000870; - ;
DR   EMBL; AP001877; - ;
DR   EMBL; BC052990; - ;
DR   EMBL; CH471065; - ;
DR   EMBL; U58033; - ;
DR   UniProtKB/Swiss-Prot; Q13614; Q9UPS9; -.
DR   EMBL; AB028996; BAA83025.2; ALT_INIT; mRNA.
DR   EMBL; AP000870; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR   EMBL; AP001877; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR   EMBL; BC052990; AAH52990.1; -; mRNA.
DR   EMBL; U58033; AAC79118.1; -; mRNA.
DR   IPI; IPI00014307; -.
DR   PIR; T09497; T09497.
DR   RefSeq; NP_057240.3; NM_016156.5.
DR   UniGene; Hs.181326; -.
DR   PDB; 1LW3; X-ray; 2.30 A; A=1-643.
DR   PDB; 1M7R; X-ray; 2.60 A; A/B=1-643.
DR   PDB; 1ZSQ; X-ray; 1.82 A; A=73-586.
DR   PDB; 1ZVR; X-ray; 1.98 A; A=73-586.
DR   PDBsum; 1LW3; -.
DR   PDBsum; 1M7R; -.
DR   PDBsum; 1ZSQ; -.
DR   PDBsum; 1ZVR; -.
DR   ProteinModelPortal; Q13614; -.
DR   SMR; Q13614; 73-585.
DR   IntAct; Q13614; 4.
DR   STRING; Q13614; -.
DR   PhosphoSite; Q13614; -.
DR   PRIDE; Q13614; -.
DR   Ensembl; ENST00000346299; ENSP00000345752; ENSG00000087053.
DR   GeneID; 8898; -.
DR   KEGG; hsa:8898; -.
DR   CTD; 8898; -.
DR   GeneCards; GC11M091631; -.
DR   HGNC; HGNC:7450; MTMR2.
DR   MIM; 601382; phenotype.
DR   MIM; 603557; gene.
DR   neXtProt; NX_Q13614; -.
DR   Orphanet; 99955; Charcot-Marie-Tooth disease type 4B1.
DR   PharmGKB; PA31253; -.
DR   eggNOG; prNOG17641; -.
DR   GeneTree; ENSGT00580000081198; -.
DR   InParanoid; Q13614; -.
DR   OMA; KHSDADR; -.
DR   OrthoDB; EOG4GMTWP; -.
DR   PhylomeDB; Q13614; -.
DR   BRENDA; 3.1.3.64; 2681.
DR   ArrayExpress; Q13614; -.
DR   Bgee; Q13614; -.
DR   CleanEx; HS_MTMR2; -.
DR   Genevestigator; Q13614; -.
DR   GermOnline; ENSG00000087053; Homo sapiens.
DR   GO; GO:0005634; C:nucleus; IDA:UniProtKB.
DR   GO; GO:0004437; F:inositol or phosphatidylinositol phosphatase activity; TAS:UniProtKB.
DR   GO; GO:0004725; F:protein tyrosine phosphatase activity; IEA:InterPro.
DR   GO; GO:0008138; F:protein tyrosine/serine/threonine phosphatase activity; NAS:UniProtKB.
DR   InterPro; IPR004182; GRAM.
DR   InterPro; IPR010569; Myotub-related.
DR   InterPro; IPR017906; Myotubularin_phosphatase_dom.
DR   InterPro; IPR000387; Tyr/Dual-specificity_Pase.
DR   InterPro; IPR016130; Tyr_Pase_AS.
DR   Pfam; PF02893; GRAM; 1.
DR   Pfam; PF06602; Myotub-related; 1.
DR   SMART; SM00568; GRAM; 1.
DR   PROSITE; PS51339; PPASE_MYOTUBULARIN; 1.
DR   PROSITE; PS00383; TYR_PHOSPHATASE_1; 1.
DR   PROSITE; PS50056; TYR_PHOSPHATASE_2; 1.
DR   HOGENOMDNA; HS11.PE2695; -.
KW   ENSG000000870531755old_1320000031; ENSP000003457527901old_1320000031;
KW   A6NN98_HUMAN; A8K5G2_HUMAN; B4DDL6_HUMAN; C9JEX3_HUMAN; AB028996;
KW   AK293243; AK302940; AP000870; AP001877; BC052990; CH471065; U58033;
KW   3D-structure; Charcot-Marie-Tooth disease; Coiled coil;
KW   Complete proteome; Cytoplasm; Disease mutation; Hydrolase; Membrane;
KW   Neuropathy; Phosphoprotein; Polymorphism; Reference proteome.
SQ   SEQUENCE   643 AA;  UNKNOWN MW;  UNKNOWN CRC64;
     MEKSSSCESL GSQPAAARPP SVDSLSSAST SHSENSVHTK SASVVSSDSI STSADNFSPD
     LRVLRESNKL AEMEEPPLLP GENIKDMAKD VTYICPFTGA VRGTLTVTNY RLYFKSMERD
     PPFVLDASLG VINRVEKIGG ASSRGENSYG LETVCKDIRN LRFAHKPEGR TRRSIFENLM
     KYAFPVSNNL PLFAFEYKEV FPENGWKLYD PLLEYRRQGI PNESWRITKI NERYELCDTY
     PALLVVPANI PDEELKRVAS FRSRGRIPVL SWIHPESQAT ITRCSQPMVG VSGKRSKEDE
     KYLQAIMDSN AQSHKIFIFD ARPSVNAVAN KAKGGGYESE DAYQNAELVF LDIHNIHVMR
     ESLRKLKEIV YPNIEETHWL SNLESTHWLE HIKLILAGAL RIADKVESGK TSVVVHCSDG
     WDRTAQLTSL AMLMLDGYYR TIRGFEVLVE KEWLSFGHRF QLRVGHGDKN HADADRSPVF
     LQFIDCVWQM TRQFPTAFEF NEYFLITILD HLYSCLFGTF LCNSEQQRGK ENLPKRTVSL
     WSYINSQLED FTNPLYGSYS NHVLYPVASM RHLELWVGYY IRWNPRMKPQ EPIHNRYKEL
     LAKRAELQKK VEELQREISN RSTSSSERAS SPAQCVTPVQ TVV
//

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