Q13613 (MTMR1_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Myotubularin-related protein 1
EC=3.1.3.-

Gene names

Name:

MTMR1

Organism

Homo sapiens (Human) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo

Protein attributes

Sequence length	665 AA.
Sequence status	Complete.
Protein existence	Evidence at protein level

General annotation (Comments)

Function	Lipid phosphatase that acts on phosphatidylinositol 3-phosphate and phosphatidylinositol (3,5)-bisphosphate. Ref.6
Subunit structure	Interacts with MTMR12. Ref.6
Subcellular location	Cell membrane; Peripheral membrane protein; Cytoplasmic side Ref.6.
Sequence similarities	Belongs to the protein-tyrosine phosphatase family. Non-receptor class myotubularin subfamily. Contains 1 GRAM domain. Contains 1 myotubularin phosphatase domain.

Ontologies

Keywords
Cellular component	Cell membrane Membrane
Coding sequence diversity	Alternative splicing
Molecular function	Hydrolase
PTM	Phosphoprotein
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	peptidyl-tyrosine dephosphorylation Inferred from electronic annotation. Source: GOC phosphatidylinositol biosynthetic process Traceable author statement. Source: Reactome small molecule metabolic process Traceable author statement. Source: Reactome
Cellular_component	cytosol Traceable author statement. Source: Reactome plasma membrane Inferred from sequence or structural similarity. Source: UniProtKB
Molecular_function	phosphatidylinositol-3-phosphatase activity Inferred from sequence or structural similarity. Source: UniProtKB protein tyrosine phosphatase activity Inferred from electronic annotation. Source: InterPro
Complete GO annotation...

Alternative products

This entry describes 2 isoforms produced by alternative splicing. [Align] [Select]

Isoform 1 (identifier: Q13613-1)

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

Isoform 1A (identifier: Q13613-2)

The sequence of this isoform differs from the canonical sequence as follows:
     553-568: DVYTKTISLWSYINSQ → AWGAGTQRARGSLRSR
     569-665: Missing.

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 665	665	Myotubularin-related protein 1		PRO_0000094932
Regions
	Domain	90 – 161	72	GRAM
	Domain	226 – 601	376	Myotubularin phosphatase
	Region	351 – 354	4	Substrate binding By similarity
	Region	376 – 377	2	Substrate binding By similarity
	Region	438 – 444	7	Substrate binding By similarity
	Compositional bias	5 – 10	6	Poly-Ala
	Compositional bias	14 – 17	4	Poly-Gly
	Compositional bias	645 – 648	4	Poly-Ser
Sites
	Active site	438	1	Phosphocysteine intermediate By similarity
	Binding site	484	1	Substrate By similarity
Amino acid modifications
	Modified residue	43	1	Phosphoserine By similarity
Natural variations
	Alternative sequence	553 – 568	16	DVYTK…YINSQ → AWGAGTQRARGSLRSR in isoform 1A.		VSP_005169
	Alternative sequence	569 – 665	97	Missing in isoform 1A.		VSP_005170
Experimental info
	Sequence conflict	541	1	F → L in CAA12271. Ref.3

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified July 19, 2003. Version 4. Checksum: 12E766859F0DCA75	FASTA	665	74,678
	10 20 30 40 50 60 MDRPAAAAAA GCEGGGGPNP GPAGGRRPPR AAGGATAGSR QPSVETLDSP TGSHVEWCKQ 70 80 90 100 110 120 LIAATISSQI SGSVTSENVS RDYKALRDGN KLAQMEEAPL FPGESIKAIV KDVMYICPFM 130 140 150 160 170 180 GAVSGTLTVT DFKLYFKNVE RDPHFILDVP LGVISRVEKI GAQSHGDNSC GIEIVCKDMR 190 200 210 220 230 240 NLRLAYKQEE QSKLGIFENL NKHAFPLSNG QALFAFSYKE KFPINGWKVY DPVSEYKRQG 250 260 270 280 290 300 LPNESWKISK INSNYEFCDT YPAIIVVPTS VKDDDLSKVA AFRAKGRVPV LSWIHPESQA 310 320 330 340 350 360 TITRCSQPLV GPNDKRCKED EKYLQTIMDA NAQSHKLIIF DARQNSVADT NKTKGGGYES 370 380 390 400 410 420 ESAYPNAELV FLEIHNIHVM RESLRKLKEI VYPSIDEARW LSNVDGTHWL EYIRMLLAGA 430 440 450 460 470 480 VRIADKIESG KTSVVVHCSD GWDRTAQLTS LAMLMLDSYY RTIKGFETLV EKEWISFGHR 490 500 510 520 530 540 FALRVGHGND NHADADRSPI FLQFVDCVWQ MTRQFPSAFE FNELFLITIL DHLYSCLFGT 550 560 570 580 590 600 FLCNCEQQRF KEDVYTKTIS LWSYINSQLD EFSNPFFVNY ENHVLYPVAS LSHLELWVNY 610 620 630 640 650 660 YVRWNPRMRP QMPIHQNLKE LLAVRAELQK RVEGLQREVA TRAVSSSSER GSSPSHSATS VHTSV
	Isoform 1A [UniParc]. Checksum: EA1F7406012707B6	FASTA	568	63,330
	10 20 30 40 50 60 MDRPAAAAAA GCEGGGGPNP GPAGGRRPPR AAGGATAGSR QPSVETLDSP TGSHVEWCKQ 70 80 90 100 110 120 LIAATISSQI SGSVTSENVS RDYKALRDGN KLAQMEEAPL FPGESIKAIV KDVMYICPFM 130 140 150 160 170 180 GAVSGTLTVT DFKLYFKNVE RDPHFILDVP LGVISRVEKI GAQSHGDNSC GIEIVCKDMR 190 200 210 220 230 240 NLRLAYKQEE QSKLGIFENL NKHAFPLSNG QALFAFSYKE KFPINGWKVY DPVSEYKRQG 250 260 270 280 290 300 LPNESWKISK INSNYEFCDT YPAIIVVPTS VKDDDLSKVA AFRAKGRVPV LSWIHPESQA 310 320 330 340 350 360 TITRCSQPLV GPNDKRCKED EKYLQTIMDA NAQSHKLIIF DARQNSVADT NKTKGGGYES 370 380 390 400 410 420 ESAYPNAELV FLEIHNIHVM RESLRKLKEI VYPSIDEARW LSNVDGTHWL EYIRMLLAGA 430 440 450 460 470 480 VRIADKIESG KTSVVVHCSD GWDRTAQLTS LAMLMLDSYY RTIKGFETLV EKEWISFGHR 490 500 510 520 530 540 FALRVGHGND NHADADRSPI FLQFVDCVWQ MTRQFPSAFE FNELFLITIL DHLYSCLFGT 550 560 FLCNCEQQRF KEAWGAGTQR ARGSLRSR

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"Genomic organization of a 225-kb region in Xq28 containing the gene for X-linked myotubular myopathy (MTM1) and a related gene (MTMR1)." Kioschis P., Wiemann S., Heiss N.S., Francis F., Goetz C., Poustka A., Taudien S., Platzer M., Wiehe T., Beckmann G., Weber J., Nordsiek G., Rosenthal A. Genomics 54:256-266(1998) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], ALTERNATIVE SPLICING.
[2]	"The DNA sequence of the human X chromosome." Ross M.T., Grafham D.V., Coffey A.J., Scherer S., McLay K., Muzny D., Platzer M., Howell G.R., Burrows C., Bird C.P., Frankish A., Lovell F.L., Howe K.L., Ashurst J.L., Fulton R.S., Sudbrak R., Wen G., Jones M.C. , Hurles M.E., Andrews T.D., Scott C.E., Searle S., Ramser J., Whittaker A., Deadman R., Carter N.P., Hunt S.E., Chen R., Cree A., Gunaratne P., Havlak P., Hodgson A., Metzker M.L., Richards S., Scott G., Steffen D., Sodergren E., Wheeler D.A., Worley K.C., Ainscough R., Ambrose K.D., Ansari-Lari M.A., Aradhya S., Ashwell R.I., Babbage A.K., Bagguley C.L., Ballabio A., Banerjee R., Barker G.E., Barlow K.F., Barrett I.P., Bates K.N., Beare D.M., Beasley H., Beasley O., Beck A., Bethel G., Blechschmidt K., Brady N., Bray-Allen S., Bridgeman A.M., Brown A.J., Brown M.J., Bonnin D., Bruford E.A., Buhay C., Burch P., Burford D., Burgess J., Burrill W., Burton J., Bye J.M., Carder C., Carrel L., Chako J., Chapman J.C., Chavez D., Chen E., Chen G., Chen Y., Chen Z., Chinault C., Ciccodicola A., Clark S.Y., Clarke G., Clee C.M., Clegg S., Clerc-Blankenburg K., Clifford K., Cobley V., Cole C.G., Conquer J.S., Corby N., Connor R.E., David R., Davies J., Davis C., Davis J., Delgado O., Deshazo D., Dhami P., Ding Y., Dinh H., Dodsworth S., Draper H., Dugan-Rocha S., Dunham A., Dunn M., Durbin K.J., Dutta I., Eades T., Ellwood M., Emery-Cohen A., Errington H., Evans K.L., Faulkner L., Francis F., Frankland J., Fraser A.E., Galgoczy P., Gilbert J., Gill R., Gloeckner G., Gregory S.G., Gribble S., Griffiths C., Grocock R., Gu Y., Gwilliam R., Hamilton C., Hart E.A., Hawes A., Heath P.D., Heitmann K., Hennig S., Hernandez J., Hinzmann B., Ho S., Hoffs M., Howden P.J., Huckle E.J., Hume J., Hunt P.J., Hunt A.R., Isherwood J., Jacob L., Johnson D., Jones S., de Jong P.J., Joseph S.S., Keenan S., Kelly S., Kershaw J.K., Khan Z., Kioschis P., Klages S., Knights A.J., Kosiura A., Kovar-Smith C., Laird G.K., Langford C., Lawlor S., Leversha M., Lewis L., Liu W., Lloyd C., Lloyd D.M., Loulseged H., Loveland J.E., Lovell J.D., Lozado R., Lu J., Lyne R., Ma J., Maheshwari M., Matthews L.H., McDowall J., McLaren S., McMurray A., Meidl P., Meitinger T., Milne S., Miner G., Mistry S.L., Morgan M., Morris S., Mueller I., Mullikin J.C., Nguyen N., Nordsiek G., Nyakatura G., O'dell C.N., Okwuonu G., Palmer S., Pandian R., Parker D., Parrish J., Pasternak S., Patel D., Pearce A.V., Pearson D.M., Pelan S.E., Perez L., Porter K.M., Ramsey Y., Reichwald K., Rhodes S., Ridler K.A., Schlessinger D., Schueler M.G., Sehra H.K., Shaw-Smith C., Shen H., Sheridan E.M., Shownkeen R., Skuce C.D., Smith M.L., Sotheran E.C., Steingruber H.E., Steward C.A., Storey R., Swann R.M., Swarbreck D., Tabor P.E., Taudien S., Taylor T., Teague B., Thomas K., Thorpe A., Timms K., Tracey A., Trevanion S., Tromans A.C., d'Urso M., Verduzco D., Villasana D., Waldron L., Wall M., Wang Q., Warren J., Warry G.L., Wei X., West A., Whitehead S.L., Whiteley M.N., Wilkinson J.E., Willey D.L., Williams G., Williams L., Williamson A., Williamson H., Wilming L., Woodmansey R.L., Wray P.W., Yen J., Zhang J., Zhou J., Zoghbi H., Zorilla S., Buck D., Reinhardt R., Poustka A., Rosenthal A., Lehrach H., Meindl A., Minx P.J., Hillier L.W., Willard H.F., Wilson R.K., Waterston R.H., Rice C.M., Vaudin M., Coulson A., Nelson D.L., Weinstock G., Sulston J.E., Durbin R.M., Hubbard T., Gibbs R.A., Beck S., Rogers J., Bentley D.R. Nature 434:325-337(2005) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[3]	"Ancient genomic duplication within the myotubular myopathy locus (MTM1) in human Xq28." Kioschis P., Wiemann S., Francis F., Goetz C., Poustka A., Taudien S., Platzer M., Wiehe T., Beckmann G., Weber J., Nordsiek G., Rosenthal A. Submitted (MAR-1998) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 4-665. Tissue: Brain.
[4]	"Characterization of the myotubularin dual specificity phosphatase gene family from yeast to human." Laporte J., Blondeau F., Buj-Bello A., Tentler D., Kretz C., Dahl N., Mandel J.-L. Hum. Mol. Genet. 7:1703-1712(1998) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 114-610.
[5]	"A gene mutated in X-linked myotubular myopathy defines a new putative tyrosine phosphatase family conserved in yeast." Laporte J., Hu L.-J., Kretz C., Mandel J.-L., Kioschis P., Coy J., Klauck S.M., Poutska A., Dahl N. Nat. Genet. 13:175-182(1996) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 404-535.
[6]	"Identification of myotubularin as the lipid phosphatase catalytic subunit associated with the 3-phosphatase adapter protein, 3-PAP." Nandurkar H.H., Layton M., Laporte J., Selan C., Corcoran L., Caldwell K.K., Mochizuki Y., Majerus P.W., Mitchell C.A. Proc. Natl. Acad. Sci. U.S.A. 100:8660-8665(2003) [PubMed] [Europe PMC] [Abstract] Cited for: FUNCTION, SUBCELLULAR LOCATION, MASS SPECTROMETRY, INTERACTION WITH MTMR12.
[7]	"A quantitative atlas of mitotic phosphorylation." Dephoure N., Zhou C., Villen J., Beausoleil S.A., Bakalarski C.E., Elledge S.J., Gygi S.P. Proc. Natl. Acad. Sci. U.S.A. 105:10762-10767(2008) [PubMed] [Europe PMC] [Abstract] Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS]. Tissue: Cervix carcinoma.
[8]	"Initial characterization of the human central proteome." Burkard T.R., Planyavsky M., Kaupe I., Breitwieser F.P., Buerckstuemmer T., Bennett K.L., Superti-Furga G., Colinge J. BMC Syst. Biol. 5:17-17(2011) [PubMed] [Europe PMC] [Abstract] Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].

Cross-references

Sequence databases
EMBL GenBank DDBJ	AF002223 Genomic DNA. No translation available. AJ224979 mRNA. Translation: CAA12271.1. AF057354 mRNA. Translation: AAD40368.1. U58032 mRNA. Translation: AAC79117.1.
IPI	IPI00292601. IPI00984142.
RefSeq	NP_003819.1. NM_003828.2.
UniGene	Hs.347187.
3D structure databases
ProteinModelPortal	Q13613.
ModBase	Search...
Protein-protein interaction databases
STRING	9606.ENSP00000359417.
PTM databases
PhosphoSite	Q13613.
Polymorphism databases
DMDM	33112667.
Proteomic databases
PaxDb	Q13613.
PRIDE	Q13613.
Protocols and materials databases
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000370390; ENSP00000359417; ENSG00000063601. ENST00000451863; ENSP00000387446; ENSG00000063601. ENST00000485376; ENSP00000434105; ENSG00000063601. ENST00000544228; ENSP00000440534; ENSG00000063601. ENST00000594143; ENSP00000472612; ENSG00000269759. ENST00000596801; ENSP00000470456; ENSG00000269759. ENST00000598665; ENSP00000470030; ENSG00000269759. ENST00000602010; ENSP00000471922; ENSG00000269759.
GeneID	8776.
KEGG	hsa:8776.
UCSC	uc004fei.3. human.
Organism-specific databases
CTD	8776.
GeneCards	GC0XP149861.
H-InvDB	HIX0017110.
HGNC	HGNC:7449. MTMR1.
HPA	HPA018502.
MIM	300171. gene.
neXtProt	NX_Q13613.
PharmGKB	PA31252.
GenAtlas	Search...
Phylogenomic databases
eggNOG	NOG322789.
HOGENOM	HOG000210598.
HOVERGEN	HBG000220.
InParanoid	Q13613.
KO	K01112.
OrthoDB	EOG4GMTWP.
PhylomeDB	Q13613.
Enzyme and pathway databases
Reactome	REACT_111217. Metabolism.
Gene expression databases
ArrayExpress	Q13613.
Bgee	Q13613.
CleanEx	HS_MTMR1.
Genevestigator	Q13613.
GermOnline	ENSG00000063601. Homo sapiens.
Family and domain databases
Gene3D	2.30.29.30. 1 hit.
InterPro	IPR004182. GRAM. IPR010569. Myotub-related. IPR017906. Myotubularin_phosphatase_dom. IPR011993. PH_like_dom. IPR000387. Tyr/Dual-sp_Pase. IPR016130. Tyr_Pase_AS. [Graphical view]
Pfam	PF02893. GRAM. 1 hit. PF06602. Myotub-related. 1 hit. [Graphical view]
SMART	SM00568. GRAM. 1 hit. [Graphical view]
PROSITE	PS51339. PPASE_MYOTUBULARIN. 1 hit. PS00383. TYR_PHOSPHATASE_1. 1 hit. PS50056. TYR_PHOSPHATASE_2. 1 hit. [Graphical view]
ProtoNet	Search...
Other
GenomeRNAi	8776.
NextBio	32908.
SOURCE	Search...

Entry information

Entry name

MTMR1_HUMAN

Accession

Primary (citable) accession number: Q13613
Secondary accession number(s): Q9UBX6, Q9UEM0, Q9UQD5

Entry history

Integrated into UniProtKB/Swiss-Prot:	November 1, 1997
Last sequence update:	July 19, 2003
Last modified:	May 1, 2013
This is version 112 of the entry and version 4 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

Disclaimer

Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.