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Q96EF0 (MTMR8_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified April 16, 2014. Version 104. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (4) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Myotubularin-related protein 8

EC=3.1.3.-
Gene names
Name:MTMR8
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length704 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

Phosphatase that acts on lipids with a phosphoinositol headgroup Probable.

Subunit structure

Interacts with MTMR9. Ref.5

Subcellular location

Nucleus envelope Ref.5.

Sequence similarities

Belongs to the protein-tyrosine phosphatase family. Non-receptor class myotubularin subfamily.

Contains 1 myotubularin phosphatase domain.

Sequence caution

The sequence BAA90964.1 differs from that shown. Reason: Erroneous initiation.

Ontologies

Keywords
   Cellular componentNucleus
   Coding sequence diversityAlternative splicing
Polymorphism
   DomainCoiled coil
   Molecular functionHydrolase
   Technical termComplete proteome
Reference proteome
Gene Ontology (GO)
   Cellular_componentnuclear envelope

Inferred from electronic annotation. Source: UniProtKB-SubCell

   Molecular_functionprotein 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: Q96EF0-1)

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 2 (identifier: Q96EF0-2)

The sequence of this isoform differs from the canonical sequence as follows:
     153-265: Missing.
Note: No experimental confirmation available.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 704704Myotubularin-related protein 8
PRO_0000330034

Regions

Domain126 – 500375Myotubularin phosphatase
Region250 – 2534Substrate binding By similarity
Region275 – 2762Substrate binding By similarity
Region338 – 3447Substrate binding By similarity
Coiled coil515 – 54127 Potential
Motif338 – 3447Active site

Sites

Active site3381Phosphocysteine intermediate By similarity
Binding site3841Substrate By similarity

Natural variations

Alternative sequence153 – 265113Missing in isoform 2.
VSP_033007
Natural variant1271W → R in a breast cancer sample; somatic mutation. Ref.6
VAR_042688
Natural variant4541E → K in a breast cancer sample; somatic mutation. Ref.6
VAR_042689

Experimental info

Sequence conflict1301I → S in BAA90964. Ref.4

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 [UniParc].

Last modified December 1, 2001. Version 1.
Checksum: 515BE817C9AEA961

FASTA70478,919
        10         20         30         40         50         60 
MDHITVPKVE NVKLVDRYVS KKPANGILYL TATHLIYVEA SGAARKETWI ALHHIATVEK 

        70         80         90        100        110        120 
LPITSLGCPL TLRCKNFRVA HFVLDSDLVC HEVYISLLKL SQPALPEDLY AFSYNPKSSK 

       130        140        150        160        170        180 
EMRESGWKLI DPISDFGRMG IPNRNWTITD ANRNYEICST YPPEIVVPKS VTLGTVVGSS 

       190        200        210        220        230        240 
KFRSKERVPV LSYLYKENNA AICRCSQPLS GFYTRCVDDE LLLEAISQTN PGSQFMYVVD 

       250        260        270        280        290        300 
TRPKLNAMAN RAAGKGYENE DNYANIRFRF MGIENIHVMR SSLQKLLEVC ELKTPTMSEF 

       310        320        330        340        350        360 
LSGLESSGWL RHIKAIMDAG IFITKAVKVE KASVLVHCSD GWDRTAQVCS VASILLDPFY 

       370        380        390        400        410        420 
RTFKGLMILI EKEWISMGHK FSQRCGHLDG DSKEVSPIFT QFLDCIWQLM EQFPCAFEFN 

       430        440        450        460        470        480 
ENFLLEIHDH VFSCQFGNFL GNCQKDREDL RVYEKTHSVW PFLVQRKPDF RNPLYKGFTM 

       490        500        510        520        530        540 
YGVLNPSTVP YNIQFWCGMY NRFDKGLQPK QSMLESLLEI KKQRAMLETD VHELEKKLKV 

       550        560        570        580        590        600 
RDEPPEEICT CSQLGNILSQ HLGSPLTNPL GFMGINGDLN TLMENGTLSR EGGLRAQMDQ 

       610        620        630        640        650        660 
VKSQGADLHH NCCEIVGSLR AINISGDVGI SEAMGISGDM CTFEATGFSK DLGICGAMDI 

       670        680        690        700 
SEATGISGNL GISEARGFSG DMGILGDTGI SKASTKEADY SKHQ 

« Hide

Isoform 2 [UniParc].

Checksum: D7E38C5FDAC096E9
Show »

FASTA59166,312

References

« Hide 'large scale' references
[1]"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. expand/collapse author list , 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].
[2]Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. expand/collapse author list , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., Venter J.C.
Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[3]"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
The MGC Project Team
Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
Tissue: Ovary.
[4]"Complete sequencing and characterization of 21,243 full-length human cDNAs."
Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S. expand/collapse author list , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 85-704 (ISOFORM 2).
Tissue: Colon.
[5]"Systematic analysis of myotubularins: heteromeric interactions, subcellular localisation and endosome related functions."
Lorenzo O., Urbe S., Clague M.J.
J. Cell Sci. 119:2953-2959(2006) [PubMed] [Europe PMC] [Abstract]
Cited for: SUBCELLULAR LOCATION, INTERACTION WITH MTMR9.
[6]"The consensus coding sequences of human breast and colorectal cancers."
Sjoeblom T., Jones S., Wood L.D., Parsons D.W., Lin J., Barber T.D., Mandelker D., Leary R.J., Ptak J., Silliman N., Szabo S., Buckhaults P., Farrell C., Meeh P., Markowitz S.D., Willis J., Dawson D., Willson J.K.V. expand/collapse author list , Gazdar A.F., Hartigan J., Wu L., Liu C., Parmigiani G., Park B.H., Bachman K.E., Papadopoulos N., Vogelstein B., Kinzler K.W., Velculescu V.E.
Science 314:268-274(2006) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS [LARGE SCALE ANALYSIS] ARG-127 AND LYS-454.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
AL356317, AL034408 Genomic DNA. Translation: CAI39933.1.
AL356317, AL034408 Genomic DNA. Translation: CAI39934.1.
AL034408 Genomic DNA. Translation: CAI43024.1.
AL034408 Genomic DNA. Translation: CAI43025.1.
CH471132 Genomic DNA. Translation: EAX05411.1.
BC012399 mRNA. Translation: AAH12399.1.
AK000133 mRNA. Translation: BAA90964.1. Different initiation.
RefSeqNP_060147.2. NM_017677.3.
UniGeneHs.442892.

3D structure databases

ProteinModelPortalQ96EF0.
SMRQ96EF0. Positions 4-505.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid120753. 2 interactions.
DIPDIP-60046N.
IntActQ96EF0. 1 interaction.
MINTMINT-1484634.
STRING9606.ENSP00000363985.

PTM databases

PhosphoSiteQ96EF0.

Polymorphism databases

DMDM74751838.

Proteomic databases

PaxDbQ96EF0.
PRIDEQ96EF0.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000374852; ENSP00000363985; ENSG00000102043. [Q96EF0-1]
GeneID55613.
KEGGhsa:55613.
UCSCuc004dvs.3. human. [Q96EF0-1]

Organism-specific databases

CTD55613.
GeneCardsGC0XM063445.
HGNCHGNC:16825. MTMR8.
neXtProtNX_Q96EF0.
PharmGKBPA134942633.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG322789.
HOGENOMHOG000210599.
HOVERGENHBG000220.
InParanoidQ96EF0.
OMAFTMYGVL.
OrthoDBEOG71RXJC.
PhylomeDBQ96EF0.
TreeFamTF315197.

Gene expression databases

ArrayExpressQ96EF0.
BgeeQ96EF0.
CleanExHS_MTMR8.
GenevestigatorQ96EF0.

Family and domain databases

InterProIPR010569. Myotubularin-like_Pase_dom.
IPR016130. Tyr_Pase_AS.
[Graphical view]
PfamPF06602. Myotub-related. 1 hit.
[Graphical view]
PROSITEPS51339. PPASE_MYOTUBULARIN. 1 hit.
PS00383. TYR_PHOSPHATASE_1. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

GenomeRNAi55613.
NextBio60188.
PROQ96EF0.

Entry information

Entry nameMTMR8_HUMAN
AccessionPrimary (citable) accession number: Q96EF0
Secondary accession number(s): Q5JT99, Q9NXP6
Entry history
Integrated into UniProtKB/Swiss-Prot: April 29, 2008
Last sequence update: December 1, 2001
Last modified: April 16, 2014
This is version 104 of the entry and version 1 of the sequence. [Complete history]
Entry statusReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny 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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome X

Human chromosome X: entries, gene names and cross-references to MIM