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Protein

Myotubularin-related protein 8

Gene

MTMR8

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

Functioni

Phosphatase that acts on lipids with a phosphoinositol headgroup.Curated

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Active sitei338Phosphocysteine intermediatePROSITE-ProRule annotation1
Binding sitei384SubstrateBy similarity1

GO - Molecular functioni

GO - Biological processi

  • negative regulation of autophagy Source: UniProtKB
  • phosphatidylinositol biosynthetic process Source: Reactome
  • phosphatidylinositol dephosphorylation Source: UniProtKB
  • regulation of autophagy Source: InterPro

Keywordsi

Molecular functionHydrolase

Enzyme and pathway databases

BRENDAi3.1.3.95 2681
ReactomeiR-HSA-1660499 Synthesis of PIPs at the plasma membrane

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
Proteomesi
  • UP000005640 Componenti: Chromosome X

Organism-specific databases

EuPathDBiHostDB:ENSG00000102043.15
HGNCiHGNC:16825 MTMR8
neXtProtiNX_Q96EF0

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Nucleus

Pathology & Biotechi

Organism-specific databases

OpenTargetsiENSG00000102043
PharmGKBiPA134942633

Polymorphism and mutation databases

BioMutaiMTMR8
DMDMi74751838

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00003300341 – 704Myotubularin-related protein 8Add BLAST704

Proteomic databases

EPDiQ96EF0
MaxQBiQ96EF0
PaxDbiQ96EF0
PeptideAtlasiQ96EF0
PRIDEiQ96EF0

PTM databases

DEPODiQ96EF0
iPTMnetiQ96EF0
PhosphoSitePlusiQ96EF0

Expressioni

Gene expression databases

BgeeiENSG00000102043
CleanExiHS_MTMR8
GenevisibleiQ96EF0 HS

Interactioni

Subunit structurei

Interacts with MTMR9.1 Publication

Binary interactionsi

WithEntry#Exp.IntActNotes
MTMR9Q96QG73EBI-15985865,EBI-744593

Protein-protein interaction databases

BioGridi120753, 17 interactors
DIPiDIP-60046N
IntActiQ96EF0, 1 interactor
STRINGi9606.ENSP00000363985

Structurei

Secondary structure

1704
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Helixi126 – 128Combined sources3
Helixi134 – 138Combined sources5
Beta strandi142 – 149Combined sources8
Turni151 – 154Combined sources4
Beta strandi155 – 157Combined sources3
Beta strandi163 – 168Combined sources6
Helixi173 – 180Combined sources8
Helixi184 – 186Combined sources3
Beta strandi190 – 194Combined sources5
Turni196 – 198Combined sources3
Beta strandi201 – 205Combined sources5
Turni211 – 213Combined sources3
Helixi217 – 227Combined sources11
Beta strandi232 – 234Combined sources3
Beta strandi236 – 240Combined sources5
Helixi244 – 252Combined sources9
Turni260 – 262Combined sources3
Beta strandi266 – 270Combined sources5
Helixi276 – 290Combined sources15
Beta strandi292 – 294Combined sources3
Helixi297 – 307Combined sources11
Helixi309 – 328Combined sources20
Beta strandi334 – 337Combined sources4
Beta strandi339 – 343Combined sources5
Helixi344 – 356Combined sources13
Helixi358 – 361Combined sources4
Helixi363 – 373Combined sources11
Turni374 – 378Combined sources5
Helixi381 – 384Combined sources4
Helixi398 – 412Combined sources15
Turni414 – 416Combined sources3
Helixi421 – 433Combined sources13
Beta strandi441 – 443Combined sources3
Helixi444 – 449Combined sources6
Helixi452 – 455Combined sources4
Helixi459 – 465Combined sources7
Helixi467 – 469Combined sources3
Helixi490 – 492Combined sources3
Turni497 – 501Combined sources5

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
4Y7IX-ray2.80A/B122-505[»]
ProteinModelPortaliQ96EF0
SMRiQ96EF0
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini126 – 500Myotubularin phosphatasePROSITE-ProRule annotationAdd BLAST375

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni250 – 253Substrate bindingBy similarity4
Regioni275 – 276Substrate bindingBy similarity2
Regioni338 – 344Substrate bindingBy similarity7

Coiled coil

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Coiled coili515 – 541Sequence analysisAdd BLAST27

Motif

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Motifi338 – 344Active site7

Sequence similaritiesi

Keywords - Domaini

Coiled coil

Phylogenomic databases

eggNOGiKOG1089 Eukaryota
ENOG410XPTU LUCA
GeneTreeiENSGT00760000118832
HOGENOMiHOG000210599
HOVERGENiHBG000220
InParanoidiQ96EF0
KOiK18083
OMAiFTMYGVL
OrthoDBiEOG091G02LA
PhylomeDBiQ96EF0
TreeFamiTF315197

Family and domain databases

Gene3Di2.30.29.30, 1 hit
InterProiView protein in InterPro
IPR030591 MTMR8
IPR010569 Myotubularin-like_Pase_dom
IPR030564 Myotubularin_fam
IPR011993 PH-like_dom_sf
IPR029021 Prot-tyrosine_phosphatase-like
IPR016130 Tyr_Pase_AS
IPR003595 Tyr_Pase_cat
PANTHERiPTHR10807 PTHR10807, 1 hit
PTHR10807:SF36 PTHR10807:SF36, 1 hit
PfamiView protein in Pfam
PF06602 Myotub-related, 1 hit
SMARTiView protein in SMART
SM00404 PTPc_motif, 1 hit
SUPFAMiSSF52799 SSF52799, 1 hit
PROSITEiView protein in PROSITE
PS51339 PPASE_MYOTUBULARIN, 1 hit
PS00383 TYR_PHOSPHATASE_1, 1 hit

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

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 differs from that shown. Reason: Erroneous initiation.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti130I → S in BAA90964 (PubMed:14702039).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_042688127W → R in a breast cancer sample; somatic mutation. 1 Publication1
Natural variantiVAR_042689454E → K in a breast cancer sample; somatic mutation. 1 Publication1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_033007153 – 265Missing in isoform 2. 1 PublicationAdd BLAST113

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AL034408 Genomic DNA No translation available.
AL356317 Genomic DNA No translation available.
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.4 human [Q96EF0-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Entry informationi

Entry nameiMTMR8_HUMAN
AccessioniPrimary (citable) accession number: Q96EF0
Secondary accession number(s): Q5JT99, Q9NXP6
Entry historyiIntegrated into UniProtKB/Swiss-Prot: April 29, 2008
Last sequence update: December 1, 2001
Last modified: May 23, 2018
This is version 143 of the entry and version 1 of the sequence. See 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

3D-structure, 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. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  5. SIMILARITY comments
    Index of protein domains and families

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