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O95248

- MTMR5_HUMAN

UniProt

O95248 - MTMR5_HUMAN

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Protein

Myotubularin-related protein 5

Gene

SBF1

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

Functioni

Probable pseudophosphatase. Lacks several amino acids in the catalytic pocket which renders it catalytically inactive as a phosphatase. The pocket is however sufficiently preserved to bind phosphorylated substrates, and maybe protect them from phosphatases. Inhibits myoblast differentiation in vitro and induces oncogenic transformation in fibroblasts. According to PubMed:20937701, may function as a guanine nucleotide exchange factor (GEF) activating RAB28. Promotes the exchange of GDP to GTP, converting inactive GDP-bound Rab proteins into their active GTP-bound form.2 Publications

GO - Molecular functioni

  1. protein tyrosine/serine/threonine phosphatase activity Source: UniProtKB
  2. Rab guanyl-nucleotide exchange factor activity Source: UniProtKB

GO - Biological processi

  1. cell death Source: UniProtKB-KW
  2. positive regulation of Rab GTPase activity Source: GOC
  3. protein dephosphorylation Source: UniProtKB
  4. spermatogenesis Source: Ensembl
Complete GO annotation...

Keywords - Molecular functioni

Guanine-nucleotide releasing factor

Names & Taxonomyi

Protein namesi
Recommended name:
Myotubularin-related protein 5
Alternative name(s):
SET-binding factor 1
Short name:
Sbf1
Gene namesi
Name:SBF1
Synonyms:MTMR5
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 22

Organism-specific databases

HGNCiHGNC:10542. SBF1.

Subcellular locationi

Nucleus 1 Publication

GO - Cellular componenti

  1. integral component of membrane Source: UniProtKB
  2. nucleus Source: UniProtKB-KW
Complete GO annotation...

Keywords - Cellular componenti

Nucleus

Pathology & Biotechi

Involvement in diseasei

Charcot-Marie-Tooth disease 4B3 (CMT4B3) [MIM:615284]: A recessive demyelinating form of Charcot-Marie-Tooth disease, a disorder of the peripheral nervous system, characterized by progressive weakness and atrophy, initially of the peroneal muscles and later of the distal muscles of the arms. Charcot-Marie-Tooth disease is classified in two main groups on the basis of electrophysiologic properties and histopathology: primary peripheral demyelinating neuropathies (designated CMT1 when they are dominantly inherited) and primary peripheral axonal neuropathies (CMT2). Demyelinating neuropathies are characterized by severely reduced nerve conduction velocities (less than 38 m/sec), segmental demyelination and remyelination with onion bulb formations on nerve biopsy, slowly progressive distal muscle atrophy and weakness, absent deep tendon reflexes, and hollow feet. By convention autosomal recessive forms of demyelinating Charcot-Marie-Tooth disease are designated CMT4.1 Publication
Note: The disease is caused by mutations affecting the gene represented in this entry.
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti417 – 4171M → V in CMT4B3. 1 Publication
VAR_070046
Natural varianti1564 – 15641T → A in CMT4B3. 1 Publication
VAR_070047

Keywords - Diseasei

Charcot-Marie-Tooth disease, Disease mutation, Neurodegeneration, Neuropathy

Organism-specific databases

MIMi615284. phenotype.
Orphaneti363981. Charcot-Marie-Tooth disease type 4B3.
PharmGKBiPA34953.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 18671867Myotubularin-related protein 5PRO_0000094938Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Modified residuei1137 – 11371Phosphothreonine1 Publication

Keywords - PTMi

Phosphoprotein

Proteomic databases

MaxQBiO95248.
PaxDbiO95248.
PRIDEiO95248.

PTM databases

PhosphoSiteiO95248.

Expressioni

Gene expression databases

BgeeiO95248.
CleanExiHS_SBF1.
ExpressionAtlasiO95248. baseline and differential.
GenevestigatoriO95248.

Interactioni

Subunit structurei

Interacts with the SET domain of KMT2A/MLL1. Interacts with SUV39H1.2 Publications

Protein-protein interaction databases

BioGridi112212. 18 interactions.
IntActiO95248. 5 interactions.
MINTiMINT-7034529.
STRINGi9606.ENSP00000375097.

Structurei

3D structure databases

ProteinModelPortaliO95248.
SMRiO95248. Positions 203-432, 1147-1251, 1318-1595, 1764-1865.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini18 – 8669UDENNAdd
BLAST
Domaini128 – 310183DENNPROSITE-ProRule annotationAdd
BLAST
Domaini363 – 43270dDENNPROSITE-ProRule annotationAdd
BLAST
Domaini880 – 96889GRAMAdd
BLAST
Domaini1120 – 1596477Myotubularin phosphatasePROSITE-ProRule annotationAdd
BLAST
Domaini1761 – 1865105PHPROSITE-ProRule annotationAdd
BLAST

Sequence similaritiesi

Contains 1 dDENN domain.PROSITE-ProRule annotation
Contains 1 DENN domain.PROSITE-ProRule annotation
Contains 1 GRAM domain.Curated
Contains 1 myotubularin phosphatase domain.PROSITE-ProRule annotation
Contains 1 PH domain.PROSITE-ProRule annotation
Contains 1 uDENN domain.PROSITE-ProRule annotation

Phylogenomic databases

eggNOGiNOG315534.
GeneTreeiENSGT00760000118832.
HOVERGENiHBG052527.
InParanoidiO95248.
KOiK18061.
OMAiSEWLIQI.
OrthoDBiEOG747PKH.
PhylomeDBiO95248.
TreeFamiTF318583.

Family and domain databases

Gene3Di2.30.29.30. 1 hit.
InterProiIPR005112. dDENN_dom.
IPR001194. DENN_dom.
IPR004182. GRAM.
IPR010569. Myotubularin-like_Pase_dom.
IPR001849. PH_domain.
IPR011993. PH_like_dom.
IPR029021. Prot-tyrosine_phosphatase-like.
IPR022096. SBF2.
IPR005113. uDENN_dom.
[Graphical view]
PfamiPF03455. dDENN. 1 hit.
PF02141. DENN. 1 hit.
PF02893. GRAM. 1 hit.
PF06602. Myotub-related. 1 hit.
PF00169. PH. 1 hit.
PF12335. SBF2. 1 hit.
PF03456. uDENN. 1 hit.
[Graphical view]
SMARTiSM00801. dDENN. 1 hit.
SM00799. DENN. 1 hit.
SM00568. GRAM. 1 hit.
SM00233. PH. 1 hit.
SM00800. uDENN. 1 hit.
[Graphical view]
SUPFAMiSSF52799. SSF52799. 2 hits.
PROSITEiPS50947. DDENN. 1 hit.
PS50211. DENN. 1 hit.
PS50003. PH_DOMAIN. 1 hit.
PS51339. PPASE_MYOTUBULARIN. 1 hit.
PS50946. UDENN. 1 hit.
[Graphical view]

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. Align

Isoform 1 (identifier: O95248-1) [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
MARLADYFVL VAFGPHPRGS GEGQGQILQR FPEKDWEDNP FPQGIELFCQ
60 70 80 90 100
PSGWQLCPER NPPTFFVAVL TDINSERHYC ACLTFWEPAE PSQETTRVED
110 120 130 140 150
ATEREEEGDE GGQTHLSPTA PAPSAQLFAP KTLVLVSRLD HTEVFRNSLG
160 170 180 190 200
LIYAIHVEGL NVCLENVIGN LLTCTVPLAG GSQRTISLGA GDRQVIQTPL
210 220 230 240 250
ADSLPVSRCS VALLFRQLGI TNVLSLFCAA LTEHKVLFLS RSYQRLADAC
260 270 280 290 300
RGLLALLFPL RYSFTYVPIL PAQLLEVLST PTPFIIGVNA AFQAETQELL
310 320 330 340 350
DVIVADLDGG TVTIPECVHI PPLPEPLQSQ THSVLSMVLD PELELADLAF
360 370 380 390 400
PPPTTSTSSL KMQDKELRAV FLRLFAQLLQ GYRWCLHVVR IHPEPVIRFH
410 420 430 440 450
KAAFLGQRGL VEDDFLMKVL EGMAFAGFVS ERGVPYRPTD LFDELVAHEV
460 470 480 490 500
ARMRADENHP QRVLRHVQEL AEQLYKNENP YPAVAMHKVQ RPGESSHLRR
510 520 530 540 550
VPRPFPRLDE GTVQWIVDQA AAKMQGAPPA VKAERRTTVP SGPPMTAILE
560 570 580 590 600
RCSGLHVNSA RRLEVVRNCI SYVFEGKMLE AKKLLPAVLR ALKGRAARRC
610 620 630 640 650
LAQELHLHVQ QNRAVLDHQQ FDFVVRMMNC CLQDCTSLDE HGIAAALLPL
660 670 680 690 700
VTAFCRKLSP GVTQFAYSCV QEHVVWSTPQ FWEAMFYGDV QTHIRALYLE
710 720 730 740 750
PTEDLAPAQE VGEAPSQEDE RSALDVASEQ RRLWPTLSRE KQQELVQKEE
760 770 780 790 800
STVFSQAIHY ANRMSYLLLP LDSSKSRLLR ERAGLGDLES ASNSLVTNSM
810 820 830 840 850
AGSVAESYDT ESGFEDAETC DVAGAVVRFI NRFVDKVCTE SGVTSDHLKG
860 870 880 890 900
LHVMVPDIVQ MHIETLEAVQ RESRRLPPIQ KPKLLRPRLL PGEECVLDGL
910 920 930 940 950
RVYLLPDGRE EGAGGSAGGP ALLPAEGAVF LTTYRVIFTG MPTDPLVGEQ
960 970 980 990 1000
VVVRSFPVAA LTKEKRISVQ TPVDQLLQDG LQLRSCTFQL LKMAFDEEVG
1010 1020 1030 1040 1050
SDSAELFRKQ LHKLRYPPDI RATFAFTLGS AHTPGRPPRV TKDKGPSLRT
1060 1070 1080 1090 1100
LSRNLVKNAK KTIGRQHVTR KKYNPPSWEH RGQPPPEDQE DEISVSEELE
1110 1120 1130 1140 1150
PSTLTPSSAL KPSDRMTMSS LVERACCRDY QRLGLGTLSS SLSRAKSEPF
1160 1170 1180 1190 1200
RISPVNRMYA ICRSYPGLLI VPQSVQDNAL QRVSRCYRQN RFPVVCWRSG
1210 1220 1230 1240 1250
RSKAVLLRSG GLHGKGVVGL FKAQNAPSPG QSQADSSSLE QEKYLQAVVS
1260 1270 1280 1290 1300
SMPRYADASG RNTLSGFSSA HMGSHGKWGS VRTSGRSSGL GTDVGSRLAG
1310 1320 1330 1340 1350
RDALAPPQAN GGPPDPGFLR PQRAALYILG DKAQLKGVRS DPLQQWELVP
1360 1370 1380 1390 1400
IEVFEARQVK ASFKKLLKAC VPGCPAAEPS PASFLRSLED SEWLIQIHKL
1410 1420 1430 1440 1450
LQVSVLVVEL LDSGSSVLVG LEDGWDITTQ VVSLVQLLSD PFYRTLEGFR
1460 1470 1480 1490 1500
LLVEKEWLSF GHRFSHRGAH TLAGQSSGFT PVFLQFLDCV HQVHLQFPME
1510 1520 1530 1540 1550
FEFSQFYLKF LGYHHVSRRF RTFLLDSDYE RIELGLLYEE KGERRGQVPC
1560 1570 1580 1590 1600
RSVWEYVDRL SKRTPVFHNY MYAPEDAEVL RPYSNVSNLK VWDFYTEETL
1610 1620 1630 1640 1650
AEGPPYDWEL AQGPPEPPEE ERSDGGAPQS RRRVVWPCYD SCPRAQPDAI
1660 1670 1680 1690 1700
SRLLEELQRL ETELGQPAER WKDTWDRVKA AQRLEGRPDG RGTPSSLLVS
1710 1720 1730 1740 1750
TAPHHRRSLG VYLQEGPVGS TLSLSLDSDQ SSGSTTSGSR QAARRSTSTL
1760 1770 1780 1790 1800
YSQFQTAESE NRSYEGTLYK KGAFMKPWKA RWFVLDKTKH QLRYYDHRVD
1810 1820 1830 1840 1850
TECKGVIDLA EVEAVAPGTP TMGAPKTVDE KAFFDVKTTR RVYNFCAQDV
1860
PSAQQWVDRI QSCLSDA
Length:1,867
Mass (Da):208,315
Last modified:September 11, 2007 - v3
Checksum:iAAC0E04B27E5BE33
GO
Isoform 4 (identifier: O95248-4) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     1275-1275: H → HVPSPRARVTTLSNPMAASASRRTAPR

Note: No experimental confirmation available.

Show »
Length:1,893
Mass (Da):211,048
Checksum:i36865405984F1AFA
GO

Sequence cautioni

The sequence AAC39675.1 differs from that shown. Reason: Frameshift at positions 1603, 1627, 1631 and 1864.

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti596 – 5961A → V in AAC39675. (PubMed:9537414)Curated
Sequence conflicti1172 – 11721P → R in AAC39675. (PubMed:9537414)Curated
Sequence conflicti1376 – 13761A → P in AAC78842. (PubMed:9736772)Curated
Sequence conflicti1556 – 15561Y → H in AAC78842. (PubMed:9736772)Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti417 – 4171M → V in CMT4B3. 1 Publication
VAR_070046
Natural varianti1564 – 15641T → A in CMT4B3. 1 Publication
VAR_070047

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei1275 – 12751H → HVPSPRARVTTLSNPMAASA SRRTAPR in isoform 4. 1 PublicationVSP_015158

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
AL096767 Genomic DNA. Translation: CAO03462.1.
CH471138 Genomic DNA. Translation: EAW73536.1.
BC009268 mRNA. Translation: AAH09268.2.
BC087612 mRNA. Translation: AAH87612.1.
U93181 mRNA. Translation: AAC39675.1. Frameshift.
AF072929 mRNA. Translation: AAC78842.1.
CCDSiCCDS14091.2. [O95248-4]
RefSeqiNP_002963.2. NM_002972.2. [O95248-4]
XP_005261992.1. XM_005261935.1. [O95248-1]
UniGeneiHs.589924.

Genome annotation databases

EnsembliENST00000380817; ENSP00000370196; ENSG00000100241. [O95248-4]
ENST00000390679; ENSP00000375097; ENSG00000100241. [O95248-1]
GeneIDi6305.
KEGGihsa:6305.
UCSCiuc003blh.3. human. [O95248-4]
uc011arx.2. human. [O95248-1]

Keywords - Coding sequence diversityi

Alternative splicing

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
AL096767 Genomic DNA. Translation: CAO03462.1 .
CH471138 Genomic DNA. Translation: EAW73536.1 .
BC009268 mRNA. Translation: AAH09268.2 .
BC087612 mRNA. Translation: AAH87612.1 .
U93181 mRNA. Translation: AAC39675.1 . Frameshift.
AF072929 mRNA. Translation: AAC78842.1 .
CCDSi CCDS14091.2. [O95248-4 ]
RefSeqi NP_002963.2. NM_002972.2. [O95248-4 ]
XP_005261992.1. XM_005261935.1. [O95248-1 ]
UniGenei Hs.589924.

3D structure databases

ProteinModelPortali O95248.
SMRi O95248. Positions 203-432, 1147-1251, 1318-1595, 1764-1865.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 112212. 18 interactions.
IntActi O95248. 5 interactions.
MINTi MINT-7034529.
STRINGi 9606.ENSP00000375097.

PTM databases

PhosphoSitei O95248.

Proteomic databases

MaxQBi O95248.
PaxDbi O95248.
PRIDEi O95248.

Protocols and materials databases

DNASUi 6305.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000380817 ; ENSP00000370196 ; ENSG00000100241 . [O95248-4 ]
ENST00000390679 ; ENSP00000375097 ; ENSG00000100241 . [O95248-1 ]
GeneIDi 6305.
KEGGi hsa:6305.
UCSCi uc003blh.3. human. [O95248-4 ]
uc011arx.2. human. [O95248-1 ]

Organism-specific databases

CTDi 6305.
GeneCardsi GC22M050885.
GeneReviewsi SBF1.
HGNCi HGNC:10542. SBF1.
MIMi 603560. gene.
615284. phenotype.
neXtProti NX_O95248.
Orphaneti 363981. Charcot-Marie-Tooth disease type 4B3.
PharmGKBi PA34953.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG315534.
GeneTreei ENSGT00760000118832.
HOVERGENi HBG052527.
InParanoidi O95248.
KOi K18061.
OMAi SEWLIQI.
OrthoDBi EOG747PKH.
PhylomeDBi O95248.
TreeFami TF318583.

Miscellaneous databases

ChiTaRSi SBF1. human.
GeneWikii SBF1.
GenomeRNAii 6305.
NextBioi 24479.
PROi O95248.
SOURCEi Search...

Gene expression databases

Bgeei O95248.
CleanExi HS_SBF1.
ExpressionAtlasi O95248. baseline and differential.
Genevestigatori O95248.

Family and domain databases

Gene3Di 2.30.29.30. 1 hit.
InterProi IPR005112. dDENN_dom.
IPR001194. DENN_dom.
IPR004182. GRAM.
IPR010569. Myotubularin-like_Pase_dom.
IPR001849. PH_domain.
IPR011993. PH_like_dom.
IPR029021. Prot-tyrosine_phosphatase-like.
IPR022096. SBF2.
IPR005113. uDENN_dom.
[Graphical view ]
Pfami PF03455. dDENN. 1 hit.
PF02141. DENN. 1 hit.
PF02893. GRAM. 1 hit.
PF06602. Myotub-related. 1 hit.
PF00169. PH. 1 hit.
PF12335. SBF2. 1 hit.
PF03456. uDENN. 1 hit.
[Graphical view ]
SMARTi SM00801. dDENN. 1 hit.
SM00799. DENN. 1 hit.
SM00568. GRAM. 1 hit.
SM00233. PH. 1 hit.
SM00800. uDENN. 1 hit.
[Graphical view ]
SUPFAMi SSF52799. SSF52799. 2 hits.
PROSITEi PS50947. DDENN. 1 hit.
PS50211. DENN. 1 hit.
PS50003. PH_DOMAIN. 1 hit.
PS51339. PPASE_MYOTUBULARIN. 1 hit.
PS50946. UDENN. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. "The DNA sequence of human chromosome 22."
    Dunham I., Hunt A.R., Collins J.E., Bruskiewich R., Beare D.M., Clamp M., Smink L.J., Ainscough R., Almeida J.P., Babbage A.K., Bagguley C., Bailey J., Barlow K.F., Bates K.N., Beasley O.P., Bird C.P., Blakey S.E., Bridgeman A.M.
    , Buck D., Burgess J., Burrill W.D., Burton J., Carder C., Carter N.P., Chen Y., Clark G., Clegg S.M., Cobley V.E., Cole C.G., Collier R.E., Connor R., Conroy D., Corby N.R., Coville G.J., Cox A.V., Davis J., Dawson E., Dhami P.D., Dockree C., Dodsworth S.J., Durbin R.M., Ellington A.G., Evans K.L., Fey J.M., Fleming K., French L., Garner A.A., Gilbert J.G.R., Goward M.E., Grafham D.V., Griffiths M.N.D., Hall C., Hall R.E., Hall-Tamlyn G., Heathcott R.W., Ho S., Holmes S., Hunt S.E., Jones M.C., Kershaw J., Kimberley A.M., King A., Laird G.K., Langford C.F., Leversha M.A., Lloyd C., Lloyd D.M., Martyn I.D., Mashreghi-Mohammadi M., Matthews L.H., Mccann O.T., Mcclay J., Mclaren S., McMurray A.A., Milne S.A., Mortimore B.J., Odell C.N., Pavitt R., Pearce A.V., Pearson D., Phillimore B.J.C.T., Phillips S.H., Plumb R.W., Ramsay H., Ramsey Y., Rogers L., Ross M.T., Scott C.E., Sehra H.K., Skuce C.D., Smalley S., Smith M.L., Soderlund C., Spragon L., Steward C.A., Sulston J.E., Swann R.M., Vaudin M., Wall M., Wallis J.M., Whiteley M.N., Willey D.L., Williams L., Williams S.A., Williamson H., Wilmer T.E., Wilming L., Wright C.L., Hubbard T., Bentley D.R., Beck S., Rogers J., Shimizu N., Minoshima S., Kawasaki K., Sasaki T., Asakawa S., Kudoh J., Shintani A., Shibuya K., Yoshizaki Y., Aoki N., Mitsuyama S., Roe B.A., Chen F., Chu L., Crabtree J., Deschamps S., Do A., Do T., Dorman A., Fang F., Fu Y., Hu P., Hua A., Kenton S., Lai H., Lao H.I., Lewis J., Lewis S., Lin S.-P., Loh P., Malaj E., Nguyen T., Pan H., Phan S., Qi S., Qian Y., Ray L., Ren Q., Shaull S., Sloan D., Song L., Wang Q., Wang Y., Wang Z., White J., Willingham D., Wu H., Yao Z., Zhan M., Zhang G., Chissoe S., Murray J., Miller N., Minx P., Fulton R., Johnson D., Bemis G., Bentley D., Bradshaw H., Bourne S., Cordes M., Du Z., Fulton L., Goela D., Graves T., Hawkins J., Hinds K., Kemp K., Latreille P., Layman D., Ozersky P., Rohlfing T., Scheet P., Walker C., Wamsley A., Wohldmann P., Pepin K., Nelson J., Korf I., Bedell J.A., Hillier L.W., Mardis E., Waterston R., Wilson R., Emanuel B.S., Shaikh T., Kurahashi H., Saitta S., Budarf M.L., McDermid H.E., Johnson A., Wong A.C.C., Morrow B.E., Edelmann L., Kim U.J., Shizuya H., Simon M.I., Dumanski J.P., Peyrard M., Kedra D., Seroussi E., Fransson I., Tapia I., Bruder C.E., O'Brien K.P., Wilkinson P., Bodenteich A., Hartman K., Hu X., Khan A.S., Lane L., Tilahun Y., Wright H.
    Nature 402:489-495(1999) [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 4), NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 938-1866 (ISOFORM 1).
    Tissue: Muscle and Ovary.
  4. "Association of SET domain and myotubularin-related proteins modulates growth control."
    Cui X., De Vivo I., Slany R., Miyamoto A., Firestein R., Cleary M.L.
    Nat. Genet. 18:331-337(1998) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 238-1867 (ISOFORM 1), FUNCTION, INTERACTION WITH KMT2A/MLL1, SUBCELLULAR LOCATION.
    Tissue: Lymphoblast.
  5. "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 1362-1602.
  6. "Set domain-dependent regulation of transcriptional silencing and growth control by SUV39H1, a mammalian ortholog of Drosophila Su(var)3-9."
    Firestein R., Cui X., Huie P., Cleary M.L.
    Mol. Cell. Biol. 20:4900-4909(2000) [PubMed] [Europe PMC] [Abstract]
    Cited for: INTERACTION WITH SUV39H1.
  7. Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT THR-1137, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    Tissue: Cervix carcinoma.
  8. "Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions."
    Mayya V., Lundgren D.H., Hwang S.-I., Rezaul K., Wu L., Eng J.K., Rodionov V., Han D.K.
    Sci. Signal. 2:RA46-RA46(2009) [PubMed] [Europe PMC] [Abstract]
    Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    Tissue: Leukemic T-cell.
  9. "Family-wide characterization of the DENN domain Rab GDP-GTP exchange factors."
    Yoshimura S., Gerondopoulos A., Linford A., Rigden D.J., Barr F.A.
    J. Cell Biol. 191:367-381(2010) [PubMed] [Europe PMC] [Abstract]
    Cited for: FUNCTION AS GUANYL-NUCLEOTIDE EXCHANGE FACTOR.
  10. "Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis."
    Olsen J.V., Vermeulen M., Santamaria A., Kumar C., Miller M.L., Jensen L.J., Gnad F., Cox J., Jensen T.S., Nigg E.A., Brunak S., Mann M.
    Sci. Signal. 3:RA3-RA3(2010) [PubMed] [Europe PMC] [Abstract]
    Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    Tissue: Cervix carcinoma.
  11. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
  12. "SET binding factor 1 (SBF1) mutation causes Charcot-Marie-Tooth disease type 4B3."
    Nakhro K., Park J.M., Hong Y.B., Park J.H., Nam S.H., Yoon B.R., Yoo J.H., Koo H., Jung S.C., Kim H.L., Kim J.Y., Choi K.G., Choi B.O., Chung K.W.
    Neurology 81:165-173(2013) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS CMT4B3 VAL-417 AND ALA-1564.

Entry informationi

Entry nameiMTMR5_HUMAN
AccessioniPrimary (citable) accession number: O95248
Secondary accession number(s): A6PVG9
, O60228, Q5JXD8, Q5PPM2, Q96GR9, Q9UGB8
Entry historyi
Integrated into UniProtKB/Swiss-Prot: December 1, 2000
Last sequence update: September 11, 2007
Last modified: October 29, 2014
This is version 135 of the entry and version 3 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 22
    Human chromosome 22: 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. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3