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Protein

Myotubularin-related protein 5

Gene

SBF1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: 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

  • phosphatase regulator activity Source: InterPro
  • protein tyrosine/serine/threonine phosphatase activity Source: UniProtKB
  • Rab guanyl-nucleotide exchange factor activity Source: UniProtKB

GO - Biological processi

  • protein dephosphorylation Source: UniProtKB
  • spermatogenesis Source: Ensembl
Complete GO annotation...

Keywords - Molecular functioni

Guanine-nucleotide releasing factor

Enzyme and pathway databases

BioCyciZFISH:ENSG00000100241-MONOMER.
BRENDAi3.1.3.16. 2681.
ReactomeiR-HSA-8876198. RAB GEFs exchange GTP for GDP on RABs.

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
Proteomesi
  • UP000005640 Componenti: Chromosome 22

Organism-specific databases

HGNCiHGNC:10542. SBF1.

Subcellular locationi

GO - Cellular componenti

  • integral component of membrane Source: UniProtKB
  • nucleus Source: UniProtKB-SubCell
Complete GO annotation...

Keywords - Cellular componenti

Nucleus

Pathology & Biotechi

Involvement in diseasei

Charcot-Marie-Tooth disease 4B3 (CMT4B3)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA 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.
See also OMIM:615284
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_070046417M → V in CMT4B3. 1 Publication1
Natural variantiVAR_0700471564T → A in CMT4B3. 1 Publication1

Keywords - Diseasei

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

Organism-specific databases

DisGeNETi6305.
MalaCardsiSBF1.
MIMi615284. phenotype.
OpenTargetsiENSG00000100241.
Orphaneti363981. Charcot-Marie-Tooth disease type 4B3.
PharmGKBiPA34953.

Polymorphism and mutation databases

BioMutaiSBF1.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000949381 – 1867Myotubularin-related protein 5Add BLAST1867

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei1120PhosphoserineCombined sources1
Modified residuei1137PhosphothreonineCombined sources1
Modified residuei1222N6-methyllysineCombined sources1
Modified residuei1746PhosphoserineCombined sources1

Keywords - PTMi

Methylation, Phosphoprotein

Proteomic databases

EPDiO95248.
MaxQBiO95248.
PaxDbiO95248.
PeptideAtlasiO95248.
PRIDEiO95248.

PTM databases

DEPODiO95248.
iPTMnetiO95248.
PhosphoSitePlusiO95248.

Expressioni

Gene expression databases

BgeeiENSG00000100241.
CleanExiHS_SBF1.
ExpressionAtlasiO95248. baseline and differential.
GenevisibleiO95248. HS.

Organism-specific databases

HPAiHPA065538.

Interactioni

Subunit structurei

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

Protein-protein interaction databases

BioGridi112212. 30 interactors.
IntActiO95248. 7 interactors.
MINTiMINT-7034529.
STRINGi9606.ENSP00000370196.

Structurei

3D structure databases

ProteinModelPortaliO95248.
SMRiO95248.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini18 – 86UDENNAdd BLAST69
Domaini128 – 310DENNPROSITE-ProRule annotationAdd BLAST183
Domaini363 – 432dDENNPROSITE-ProRule annotationAdd BLAST70
Domaini880 – 968GRAMAdd BLAST89
Domaini1120 – 1596Myotubularin phosphatasePROSITE-ProRule annotationAdd BLAST477
Domaini1761 – 1865PHPROSITE-ProRule annotationAdd BLAST105

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

eggNOGiKOG1090. Eukaryota.
KOG2080. Eukaryota.
ENOG410XTJ1. LUCA.
GeneTreeiENSGT00760000118832.
HOVERGENiHBG052527.
InParanoidiO95248.
KOiK18061.
OMAiKLRYPQH.
OrthoDBiEOG091G00CQ.
PhylomeDBiO95248.
TreeFamiTF318583.

Family and domain databases

Gene3Di2.30.29.30. 1 hit.
InterProiIPR005112. dDENN_dom.
IPR001194. DENN_dom.
IPR004182. GRAM.
IPR030574. MTMR5.
IPR010569. Myotubularin-like_Pase_dom.
IPR030564. Myotubularin_fam.
IPR011993. PH_dom-like.
IPR001849. PH_domain.
IPR029021. Prot-tyrosine_phosphatase-like.
IPR022096. SBF1/SBF2.
IPR005113. uDENN_dom.
[Graphical view]
PANTHERiPTHR10807. PTHR10807. 5 hits.
PTHR10807:SF43. PTHR10807:SF43. 5 hits.
PfamiPF02141. 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]
SUPFAMiSSF50729. SSF50729. 2 hits.
SSF52799. 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. AlignAdd to basket

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 differs from that shown. Reason: Frameshift at positions 1603, 1627, 1631 and 1864.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti596A → V in AAC39675 (PubMed:9537414).Curated1
Sequence conflicti1172P → R in AAC39675 (PubMed:9537414).Curated1
Sequence conflicti1376A → P in AAC78842 (PubMed:9736772).Curated1
Sequence conflicti1556Y → H in AAC78842 (PubMed:9736772).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_070046417M → V in CMT4B3. 1 Publication1
Natural variantiVAR_0700471564T → A in CMT4B3. 1 Publication1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0151581275H → HVPSPRARVTTLSNPMAASA SRRTAPR in isoform 4. 1 Publication1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
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_002972.3. [O95248-4]
XP_005261992.1. XM_005261935.2. [O95248-1]
UniGeneiHs.589924.

Genome annotation databases

EnsembliENST00000380817; ENSP00000370196; ENSG00000100241. [O95248-4]
GeneIDi6305.
KEGGihsa:6305.
UCSCiuc003blh.5. human. [O95248-1]

Keywords - Coding sequence diversityi

Alternative splicing

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
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_002972.3. [O95248-4]
XP_005261992.1. XM_005261935.2. [O95248-1]
UniGeneiHs.589924.

3D structure databases

ProteinModelPortaliO95248.
SMRiO95248.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi112212. 30 interactors.
IntActiO95248. 7 interactors.
MINTiMINT-7034529.
STRINGi9606.ENSP00000370196.

PTM databases

DEPODiO95248.
iPTMnetiO95248.
PhosphoSitePlusiO95248.

Polymorphism and mutation databases

BioMutaiSBF1.

Proteomic databases

EPDiO95248.
MaxQBiO95248.
PaxDbiO95248.
PeptideAtlasiO95248.
PRIDEiO95248.

Protocols and materials databases

DNASUi6305.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000380817; ENSP00000370196; ENSG00000100241. [O95248-4]
GeneIDi6305.
KEGGihsa:6305.
UCSCiuc003blh.5. human. [O95248-1]

Organism-specific databases

CTDi6305.
DisGeNETi6305.
GeneCardsiSBF1.
GeneReviewsiSBF1.
HGNCiHGNC:10542. SBF1.
HPAiHPA065538.
MalaCardsiSBF1.
MIMi603560. gene.
615284. phenotype.
neXtProtiNX_O95248.
OpenTargetsiENSG00000100241.
Orphaneti363981. Charcot-Marie-Tooth disease type 4B3.
PharmGKBiPA34953.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG1090. Eukaryota.
KOG2080. Eukaryota.
ENOG410XTJ1. LUCA.
GeneTreeiENSGT00760000118832.
HOVERGENiHBG052527.
InParanoidiO95248.
KOiK18061.
OMAiKLRYPQH.
OrthoDBiEOG091G00CQ.
PhylomeDBiO95248.
TreeFamiTF318583.

Enzyme and pathway databases

BioCyciZFISH:ENSG00000100241-MONOMER.
BRENDAi3.1.3.16. 2681.
ReactomeiR-HSA-8876198. RAB GEFs exchange GTP for GDP on RABs.

Miscellaneous databases

ChiTaRSiSBF1. human.
GeneWikiiSBF1.
GenomeRNAii6305.
PROiO95248.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000100241.
CleanExiHS_SBF1.
ExpressionAtlasiO95248. baseline and differential.
GenevisibleiO95248. HS.

Family and domain databases

Gene3Di2.30.29.30. 1 hit.
InterProiIPR005112. dDENN_dom.
IPR001194. DENN_dom.
IPR004182. GRAM.
IPR030574. MTMR5.
IPR010569. Myotubularin-like_Pase_dom.
IPR030564. Myotubularin_fam.
IPR011993. PH_dom-like.
IPR001849. PH_domain.
IPR029021. Prot-tyrosine_phosphatase-like.
IPR022096. SBF1/SBF2.
IPR005113. uDENN_dom.
[Graphical view]
PANTHERiPTHR10807. PTHR10807. 5 hits.
PTHR10807:SF43. PTHR10807:SF43. 5 hits.
PfamiPF02141. 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]
SUPFAMiSSF50729. SSF50729. 2 hits.
SSF52799. 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]
ProtoNetiSearch...

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: November 30, 2016
This is version 158 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

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.