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Q96EF0

- MTMR8_HUMAN

UniProt

Q96EF0 - MTMR8_HUMAN

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Protein

Myotubularin-related protein 8

Gene

MTMR8

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 4 out of 5- Experimental evidence at protein leveli

Functioni

Phosphatase that acts on lipids with a phosphoinositol headgroup.Curated

Sites

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Active sitei338 – 3381Phosphocysteine intermediatePROSITE-ProRule annotation
Binding sitei384 – 3841SubstrateBy similarity

GO - Molecular functioni

  1. protein tyrosine phosphatase activity Source: InterPro
Complete GO annotation...

Keywords - Molecular functioni

Hydrolase

Names & Taxonomyi

Protein namesi
Recommended name:
Myotubularin-related protein 8 (EC:3.1.3.-)
Gene namesi
Name:MTMR8
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome X

Organism-specific databases

HGNCiHGNC:16825. MTMR8.

Subcellular locationi

Nucleus envelope 1 Publication

GO - Cellular componenti

  1. nucleus Source: UniProtKB-KW
Complete GO annotation...

Keywords - Cellular componenti

Nucleus

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA134942633.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 704704Myotubularin-related protein 8PRO_0000330034Add
BLAST

Proteomic databases

PaxDbiQ96EF0.
PRIDEiQ96EF0.

PTM databases

PhosphoSiteiQ96EF0.

Expressioni

Gene expression databases

BgeeiQ96EF0.
CleanExiHS_MTMR8.
GenevestigatoriQ96EF0.

Interactioni

Subunit structurei

Interacts with MTMR9.1 Publication

Protein-protein interaction databases

BioGridi120753. 2 interactions.
DIPiDIP-60046N.
IntActiQ96EF0. 1 interaction.
MINTiMINT-1484634.
STRINGi9606.ENSP00000363985.

Structurei

3D structure databases

ProteinModelPortaliQ96EF0.
SMRiQ96EF0. Positions 4-505.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini126 – 500375Myotubularin phosphatasePROSITE-ProRule annotationAdd
BLAST

Region

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Regioni250 – 2534Substrate bindingBy similarity
Regioni275 – 2762Substrate bindingBy similarity
Regioni338 – 3447Substrate bindingBy similarity

Coiled coil

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Coiled coili515 – 54127Sequence AnalysisAdd
BLAST

Motif

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Motifi338 – 3447Active site

Sequence similaritiesi

Contains 1 myotubularin phosphatase domain.PROSITE-ProRule annotation

Keywords - Domaini

Coiled coil

Phylogenomic databases

eggNOGiNOG322789.
GeneTreeiENSGT00760000118832.
HOGENOMiHOG000210599.
HOVERGENiHBG000220.
InParanoidiQ96EF0.
KOiK18083.
OMAiFTMYGVL.
OrthoDBiEOG71RXJC.
PhylomeDBiQ96EF0.
TreeFamiTF315197.

Family and domain databases

InterProiIPR010569. Myotubularin-like_Pase_dom.
IPR029021. Prot-tyrosine_phosphatase-like.
IPR016130. Tyr_Pase_AS.
[Graphical view]
PfamiPF06602. Myotub-related. 1 hit.
[Graphical view]
SUPFAMiSSF52799. SSF52799. 1 hit.
PROSITEiPS51339. PPASE_MYOTUBULARIN. 1 hit.
PS00383. TYR_PHOSPHATASE_1. 1 hit.
[Graphical view]

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. Align

Isoform 1 (identifier: Q96EF0-1) [UniParc]FASTAAdd to Basket

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.

« Hide

        10         20         30         40         50
MDHITVPKVE NVKLVDRYVS KKPANGILYL TATHLIYVEA SGAARKETWI
60 70 80 90 100
ALHHIATVEK LPITSLGCPL TLRCKNFRVA HFVLDSDLVC HEVYISLLKL
110 120 130 140 150
SQPALPEDLY AFSYNPKSSK EMRESGWKLI DPISDFGRMG IPNRNWTITD
160 170 180 190 200
ANRNYEICST YPPEIVVPKS VTLGTVVGSS KFRSKERVPV LSYLYKENNA
210 220 230 240 250
AICRCSQPLS GFYTRCVDDE LLLEAISQTN PGSQFMYVVD TRPKLNAMAN
260 270 280 290 300
RAAGKGYENE DNYANIRFRF MGIENIHVMR SSLQKLLEVC ELKTPTMSEF
310 320 330 340 350
LSGLESSGWL RHIKAIMDAG IFITKAVKVE KASVLVHCSD GWDRTAQVCS
360 370 380 390 400
VASILLDPFY RTFKGLMILI EKEWISMGHK FSQRCGHLDG DSKEVSPIFT
410 420 430 440 450
QFLDCIWQLM EQFPCAFEFN ENFLLEIHDH VFSCQFGNFL GNCQKDREDL
460 470 480 490 500
RVYEKTHSVW PFLVQRKPDF RNPLYKGFTM YGVLNPSTVP YNIQFWCGMY
510 520 530 540 550
NRFDKGLQPK QSMLESLLEI KKQRAMLETD VHELEKKLKV RDEPPEEICT
560 570 580 590 600
CSQLGNILSQ HLGSPLTNPL GFMGINGDLN TLMENGTLSR EGGLRAQMDQ
610 620 630 640 650
VKSQGADLHH NCCEIVGSLR AINISGDVGI SEAMGISGDM CTFEATGFSK
660 670 680 690 700
DLGICGAMDI SEATGISGNL GISEARGFSG DMGILGDTGI SKASTKEADY

SKHQ
Length:704
Mass (Da):78,919
Last modified:December 1, 2001 - v1
Checksum:i515BE817C9AEA961
GO
Isoform 2 (identifier: Q96EF0-2) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     153-265: Missing.

Note: No experimental confirmation available.

Show »
Length:591
Mass (Da):66,312
Checksum:iD7E38C5FDAC096E9
GO

Sequence cautioni

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

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti130 – 1301I → S in BAA90964. (PubMed:14702039)Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti127 – 1271W → R in a breast cancer sample; somatic mutation. 1 Publication
VAR_042688
Natural varianti454 – 4541E → K in a breast cancer sample; somatic mutation. 1 Publication
VAR_042689

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei153 – 265113Missing in isoform 2. 1 PublicationVSP_033007Add
BLAST

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
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.
CCDSiCCDS14379.1. [Q96EF0-1]
RefSeqiNP_060147.2. NM_017677.3. [Q96EF0-1]
UniGeneiHs.442892.

Genome annotation databases

EnsembliENST00000374852; ENSP00000363985; ENSG00000102043. [Q96EF0-1]
GeneIDi55613.
KEGGihsa:55613.
UCSCiuc004dvs.3. human. [Q96EF0-1]

Polymorphism databases

DMDMi74751838.

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
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.
CCDSi CCDS14379.1. [Q96EF0-1 ]
RefSeqi NP_060147.2. NM_017677.3. [Q96EF0-1 ]
UniGenei Hs.442892.

3D structure databases

ProteinModelPortali Q96EF0.
SMRi Q96EF0. Positions 4-505.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 120753. 2 interactions.
DIPi DIP-60046N.
IntActi Q96EF0. 1 interaction.
MINTi MINT-1484634.
STRINGi 9606.ENSP00000363985.

PTM databases

PhosphoSitei Q96EF0.

Polymorphism databases

DMDMi 74751838.

Proteomic databases

PaxDbi Q96EF0.
PRIDEi Q96EF0.

Protocols and materials databases

Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000374852 ; ENSP00000363985 ; ENSG00000102043 . [Q96EF0-1 ]
GeneIDi 55613.
KEGGi hsa:55613.
UCSCi uc004dvs.3. human. [Q96EF0-1 ]

Organism-specific databases

CTDi 55613.
GeneCardsi GC0XM063445.
HGNCi HGNC:16825. MTMR8.
neXtProti NX_Q96EF0.
PharmGKBi PA134942633.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG322789.
GeneTreei ENSGT00760000118832.
HOGENOMi HOG000210599.
HOVERGENi HBG000220.
InParanoidi Q96EF0.
KOi K18083.
OMAi FTMYGVL.
OrthoDBi EOG71RXJC.
PhylomeDBi Q96EF0.
TreeFami TF315197.

Miscellaneous databases

GenomeRNAii 55613.
NextBioi 60188.
PROi Q96EF0.

Gene expression databases

Bgeei Q96EF0.
CleanExi HS_MTMR8.
Genevestigatori Q96EF0.

Family and domain databases

InterProi IPR010569. Myotubularin-like_Pase_dom.
IPR029021. Prot-tyrosine_phosphatase-like.
IPR016130. Tyr_Pase_AS.
[Graphical view ]
Pfami PF06602. Myotub-related. 1 hit.
[Graphical view ]
SUPFAMi SSF52799. SSF52799. 1 hit.
PROSITEi PS51339. PPASE_MYOTUBULARIN. 1 hit.
PS00383. TYR_PHOSPHATASE_1. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  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.
    , 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. 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.
    , 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. Cited for: VARIANTS [LARGE SCALE ANALYSIS] ARG-127 AND LYS-454.

Entry informationi

Entry nameiMTMR8_HUMAN
AccessioniPrimary (citable) accession number: Q96EF0
Secondary accession number(s): Q5JT99, Q9NXP6
Entry historyi
Integrated into UniProtKB/Swiss-Prot: April 29, 2008
Last sequence update: December 1, 2001
Last modified: October 29, 2014
This is version 109 of the entry and version 1 of the sequence. [Complete history]
Entry statusiReviewed (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.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome X
    Human chromosome X: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3