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UniProtKB - O95248 (MTMR5_HUMAN)

Protein

Myotubularin-related protein 5

Gene

SBF1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -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
View the complete GO annotation on QuickGO ...

GO - Biological processi

View the complete GO annotation on QuickGO ...

Keywordsi

Molecular functionGuanine-nucleotide releasing factor

Enzyme and pathway databases

BRENDAi3.1.3.16 2681
ReactomeiR-HSA-1483248 Synthesis of PIPs at the ER membrane
R-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 lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
Proteomesi
  • UP000005640 Componenti: Chromosome 22

Organism-specific databases

EuPathDBiHostDB:ENSG00000100241.20
HGNCiHGNC:10542 SBF1
MIMi603560 gene
neXtProtiNX_O95248

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

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_070046418M → V in CMT4B3. 1 PublicationCorresponds to variant dbSNP:rs587776986Ensembl.1
Natural variantiVAR_0700471565T → A in CMT4B3. 1 PublicationCorresponds to variant dbSNP:rs200488568Ensembl.1

Keywords - Diseasei

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

Organism-specific databases

DisGeNETi6305
GeneReviewsiSBF1
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 – 1868Myotubularin-related protein 5Add BLAST1868

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei1121PhosphoserineCombined sources1
Modified residuei1138PhosphothreonineCombined sources1
Modified residuei1223N6-methyllysineCombined sources1
Modified residuei1747PhosphoserineCombined sources1

Keywords - PTMi

Methylation, Phosphoprotein

Proteomic databases

EPDiO95248
MaxQBiO95248
PaxDbiO95248
PeptideAtlasiO95248
PRIDEiO95248
ProteomicsDBi50743
50744 [O95248-4]

PTM databases

DEPODiO95248
iPTMnetiO95248
PhosphoSitePlusiO95248

Expressioni

Gene expression databases

BgeeiENSG00000100241 Expressed in 214 organ(s), highest expression level in testis
CleanExiHS_SBF1
ExpressionAtlasiO95248 baseline and differential
GenevisibleiO95248 HS

Organism-specific databases

HPAiHPA074004

Interactioni

Subunit structurei

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

GO - Molecular functioni

View the complete GO annotation on QuickGO ...

Protein-protein interaction databases

BioGridi112212, 49 interactors
IntActiO95248, 8 interactors
MINTiO95248
STRINGi9606.ENSP00000370196

Structurei

3D structure databases

ProteinModelPortaliO95248
SMRiO95248
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini7 – 185uDENNPROSITE-ProRule annotationAdd BLAST179
Domaini204 – 337cDENNPROSITE-ProRule annotationAdd BLAST134
Domaini339 – 440dDENNPROSITE-ProRule annotationAdd BLAST102
Domaini881 – 969GRAMAdd BLAST89
Domaini1121 – 1597Myotubularin phosphatasePROSITE-ProRule annotationAdd BLAST477
Domaini1762 – 1866PHPROSITE-ProRule annotationAdd BLAST105

Sequence similaritiesi

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

Phylogenomic databases

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

Family and domain databases

Gene3Di2.30.29.30, 1 hit
InterProiView protein in InterPro
IPR001194 cDENN_dom
IPR005112 dDENN_dom
IPR004182 GRAM
IPR030574 MTMR5
IPR010569 Myotubularin-like_Pase_dom
IPR030564 Myotubularin_fam
IPR011993 PH-like_dom_sf
IPR001849 PH_domain
IPR029021 Prot-tyrosine_phosphatase-like
IPR022096 SBF1/SBF2
IPR037516 Tripartite_DENN
IPR005113 uDENN_dom
PANTHERiPTHR10807 PTHR10807, 1 hit
PTHR10807:SF43 PTHR10807:SF43, 1 hit
PfamiView protein in Pfam
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
SMARTiView protein in SMART
SM00801 dDENN, 1 hit
SM00799 DENN, 1 hit
SM00568 GRAM, 1 hit
SM00233 PH, 1 hit
SM00800 uDENN, 1 hit
SUPFAMiSSF52799 SSF52799, 1 hit
PROSITEiView protein in PROSITE
PS50211 DENN, 1 hit
PS50003 PH_DOMAIN, 1 hit
PS51339 PPASE_MYOTUBULARIN, 1 hit

Sequences (3+)i

Sequence statusi: Complete.

This entry describes 3 isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 3 described isoforms and 1 potential isoform that is computationally mapped.Show allAlign All

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 PSQQETTRVE 
       110        120        130        140        150
DATEREEEGD EGGQTHLSPT APAPSAQLFA PKTLVLVSRL DHTEVFRNSL 
       160        170        180        190        200
GLIYAIHVEG LNVCLENVIG NLLTCTVPLA GGSQRTISLG AGDRQVIQTP 
       210        220        230        240        250
LADSLPVSRC SVALLFRQLG ITNVLSLFCA ALTEHKVLFL SRSYQRLADA 
       260        270        280        290        300
CRGLLALLFP LRYSFTYVPI LPAQLLEVLS TPTPFIIGVN AAFQAETQEL 
       310        320        330        340        350
LDVIVADLDG GTVTIPECVH IPPLPEPLQS QTHSVLSMVL DPELELADLA 
       360        370        380        390        400
FPPPTTSTSS LKMQDKELRA VFLRLFAQLL QGYRWCLHVV RIHPEPVIRF 
       410        420        430        440        450
HKAAFLGQRG LVEDDFLMKV LEGMAFAGFV SERGVPYRPT DLFDELVAHE 
       460        470        480        490        500
VARMRADENH PQRVLRHVQE LAEQLYKNEN PYPAVAMHKV QRPGESSHLR 
       510        520        530        540        550
RVPRPFPRLD EGTVQWIVDQ AAAKMQGAPP AVKAERRTTV PSGPPMTAIL 
       560        570        580        590        600
ERCSGLHVNS ARRLEVVRNC ISYVFEGKML EAKKLLPAVL RALKGRAARR 
       610        620        630        640        650
CLAQELHLHV QQNRAVLDHQ QFDFVVRMMN CCLQDCTSLD EHGIAAALLP 
       660        670        680        690        700
LVTAFCRKLS PGVTQFAYSC VQEHVVWSTP QFWEAMFYGD VQTHIRALYL 
       710        720        730        740        750
EPTEDLAPAQ EVGEAPSQED ERSALDVASE QRRLWPTLSR EKQQELVQKE 
       760        770        780        790        800
ESTVFSQAIH YANRMSYLLL PLDSSKSRLL RERAGLGDLE SASNSLVTNS 
       810        820        830        840        850
MAGSVAESYD TESGFEDAET CDVAGAVVRF INRFVDKVCT ESGVTSDHLK 
       860        870        880        890        900
GLHVMVPDIV QMHIETLEAV QRESRRLPPI QKPKLLRPRL LPGEECVLDG 
       910        920        930        940        950
LRVYLLPDGR EEGAGGSAGG PALLPAEGAV FLTTYRVIFT GMPTDPLVGE 
       960        970        980        990       1000
QVVVRSFPVA ALTKEKRISV QTPVDQLLQD GLQLRSCTFQ LLKMAFDEEV 
      1010       1020       1030       1040       1050
GSDSAELFRK QLHKLRYPPD IRATFAFTLG SAHTPGRPPR VTKDKGPSLR 
      1060       1070       1080       1090       1100
TLSRNLVKNA KKTIGRQHVT RKKYNPPSWE HRGQPPPEDQ EDEISVSEEL 
      1110       1120       1130       1140       1150
EPSTLTPSSA LKPSDRMTMS SLVERACCRD YQRLGLGTLS SSLSRAKSEP 
      1160       1170       1180       1190       1200
FRISPVNRMY AICRSYPGLL IVPQSVQDNA LQRVSRCYRQ NRFPVVCWRS 
      1210       1220       1230       1240       1250
GRSKAVLLRS GGLHGKGVVG LFKAQNAPSP GQSQADSSSL EQEKYLQAVV 
      1260       1270       1280       1290       1300
SSMPRYADAS GRNTLSGFSS AHMGSHGKWG SVRTSGRSSG LGTDVGSRLA 
      1310       1320       1330       1340       1350
GRDALAPPQA NGGPPDPGFL RPQRAALYIL GDKAQLKGVR SDPLQQWELV 
      1360       1370       1380       1390       1400
PIEVFEARQV KASFKKLLKA CVPGCPAAEP SPASFLRSLE DSEWLIQIHK 
      1410       1420       1430       1440       1450
LLQVSVLVVE LLDSGSSVLV GLEDGWDITT QVVSLVQLLS DPFYRTLEGF 
      1460       1470       1480       1490       1500
RLLVEKEWLS FGHRFSHRGA HTLAGQSSGF TPVFLQFLDC VHQVHLQFPM 
      1510       1520       1530       1540       1550
EFEFSQFYLK FLGYHHVSRR FRTFLLDSDY ERIELGLLYE EKGERRGQVP 
      1560       1570       1580       1590       1600
CRSVWEYVDR LSKRTPVFHN YMYAPEDAEV LRPYSNVSNL KVWDFYTEET 
      1610       1620       1630       1640       1650
LAEGPPYDWE LAQGPPEPPE EERSDGGAPQ SRRRVVWPCY DSCPRAQPDA 
      1660       1670       1680       1690       1700
ISRLLEELQR LETELGQPAE RWKDTWDRVK AAQRLEGRPD GRGTPSSLLV 
      1710       1720       1730       1740       1750
STAPHHRRSL GVYLQEGPVG STLSLSLDSD QSSGSTTSGS RQAARRSTST 
      1760       1770       1780       1790       1800
LYSQFQTAES ENRSYEGTLY KKGAFMKPWK ARWFVLDKTK HQLRYYDHRV 
      1810       1820       1830       1840       1850
DTECKGVIDL AEVEAVAPGT PTMGAPKTVD EKAFFDVKTT RRVYNFCAQD 
      1860 
VPSAQQWVDR IQSCLSDA
Length:1,868
Mass (Da):208,443
Last modified:March 28, 2018 - v4
Checksum:iE2C80DF9FB94AF1C
GO
Isoform 4 (identifier: O95248-4) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1276-1276: H → HVPSPRARVTTLSNPMAASASRRTAPR

Note: No experimental confirmation available.
Show »
Length:1,894
Mass (Da):211,176
Checksum:iEDDBDFD36B60722E
GO
Isoform 5 (identifier: O95248-5) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     93-93: Missing.
     1276-1276: H → HVPSPRARVTTLSNPMAASASRRTAPR

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

Computationally mapped potential isoform sequencesi

There is 1 potential isoform mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
H0Y5W8H0Y5W8_HUMAN
Myotubularin-related protein 5
SBF1
415Annotation score:

Sequence cautioni

The sequence AAC39675 differs from that shown. Reason: Frameshift at positions 1604, 1628, 1632 and 1865.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti597A → V in AAC39675 (PubMed:9537414).Curated1
Sequence conflicti1173P → R in AAC39675 (PubMed:9537414).Curated1
Sequence conflicti1377A → P in AAC78842 (PubMed:9736772).Curated1
Sequence conflicti1557Y → H in AAC78842 (PubMed:9736772).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_070046418M → V in CMT4B3. 1 PublicationCorresponds to variant dbSNP:rs587776986Ensembl.1
Natural variantiVAR_0700471565T → A in CMT4B3. 1 PublicationCorresponds to variant dbSNP:rs200488568Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_05942793Missing in isoform 5. 2 Publications1
Alternative sequenceiVSP_0151581276H → HVPSPRARVTTLSNPMAASA SRRTAPR in isoform 4 and isoform 5. 2 Publications1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AL096767 Genomic DNA No translation available.
CH471138 Genomic DNA Translation: EAW73536.1
CH471138 Genomic DNA Translation: EAW73538.1
CH471138 Genomic DNA Translation: EAW73539.1
BC009268 mRNA Translation: AAH09268.2
BC087612 mRNA Translation: AAH87612.1
U93181 mRNA Translation: AAC39675.1 Frameshift.
AF072929 mRNA Translation: AAC78842.1
CCDSiCCDS14091.2 [O95248-5]
RefSeqiNP_002963.2, NM_002972.3 [O95248-5]
UniGeneiHs.589924

Genome annotation databases

EnsembliENST00000348911; ENSP00000252027; ENSG00000100241 [O95248-1]
ENST00000380817; ENSP00000370196; ENSG00000100241 [O95248-5]
GeneIDi6305
KEGGihsa:6305
UCSCiuc003blh.5 human [O95248-1]
uc062flz.1 human

Keywords - Coding sequence diversityi

Alternative splicing

Similar proteinsi

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AL096767 Genomic DNA No translation available.
CH471138 Genomic DNA Translation: EAW73536.1
CH471138 Genomic DNA Translation: EAW73538.1
CH471138 Genomic DNA Translation: EAW73539.1
BC009268 mRNA Translation: AAH09268.2
BC087612 mRNA Translation: AAH87612.1
U93181 mRNA Translation: AAC39675.1 Frameshift.
AF072929 mRNA Translation: AAC78842.1
CCDSiCCDS14091.2 [O95248-5]
RefSeqiNP_002963.2, NM_002972.3 [O95248-5]
UniGeneiHs.589924

3D structure databases

ProteinModelPortaliO95248
SMRiO95248
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi112212, 49 interactors
IntActiO95248, 8 interactors
MINTiO95248
STRINGi9606.ENSP00000370196

PTM databases

DEPODiO95248
iPTMnetiO95248
PhosphoSitePlusiO95248

Polymorphism and mutation databases

BioMutaiSBF1

Proteomic databases

EPDiO95248
MaxQBiO95248
PaxDbiO95248
PeptideAtlasiO95248
PRIDEiO95248
ProteomicsDBi50743
50744 [O95248-4]

Protocols and materials databases

DNASUi6305
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000348911; ENSP00000252027; ENSG00000100241 [O95248-1]
ENST00000380817; ENSP00000370196; ENSG00000100241 [O95248-5]
GeneIDi6305
KEGGihsa:6305
UCSCiuc003blh.5 human [O95248-1]
uc062flz.1 human

Organism-specific databases

CTDi6305
DisGeNETi6305
EuPathDBiHostDB:ENSG00000100241.20
GeneCardsiSBF1
GeneReviewsiSBF1
HGNCiHGNC:10542 SBF1
HPAiHPA074004
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
OMAiDQATAKM
OrthoDBiEOG091G00CQ
PhylomeDBiO95248
TreeFamiTF318583

Enzyme and pathway databases

BRENDAi3.1.3.16 2681
ReactomeiR-HSA-1483248 Synthesis of PIPs at the ER membrane
R-HSA-8876198 RAB GEFs exchange GTP for GDP on RABs

Miscellaneous databases

ChiTaRSiSBF1 human
GeneWikiiSBF1
GenomeRNAii6305
PROiPR:O95248
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000100241 Expressed in 214 organ(s), highest expression level in testis
CleanExiHS_SBF1
ExpressionAtlasiO95248 baseline and differential
GenevisibleiO95248 HS

Family and domain databases

Gene3Di2.30.29.30, 1 hit
InterProiView protein in InterPro
IPR001194 cDENN_dom
IPR005112 dDENN_dom
IPR004182 GRAM
IPR030574 MTMR5
IPR010569 Myotubularin-like_Pase_dom
IPR030564 Myotubularin_fam
IPR011993 PH-like_dom_sf
IPR001849 PH_domain
IPR029021 Prot-tyrosine_phosphatase-like
IPR022096 SBF1/SBF2
IPR037516 Tripartite_DENN
IPR005113 uDENN_dom
PANTHERiPTHR10807 PTHR10807, 1 hit
PTHR10807:SF43 PTHR10807:SF43, 1 hit
PfamiView protein in Pfam
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
SMARTiView protein in SMART
SM00801 dDENN, 1 hit
SM00799 DENN, 1 hit
SM00568 GRAM, 1 hit
SM00233 PH, 1 hit
SM00800 uDENN, 1 hit
SUPFAMiSSF52799 SSF52799, 1 hit
PROSITEiView protein in PROSITE
PS50211 DENN, 1 hit
PS50003 PH_DOMAIN, 1 hit
PS51339 PPASE_MYOTUBULARIN, 1 hit
ProtoNetiSearch...

Entry informationi

Entry nameiMTMR5_HUMAN
AccessioniPrimary (citable) accession number: O95248
Secondary accession number(s): A0A024R4Z9
, A6PVG9, G5E933, O60228, Q5JXD8, Q5PPM2, Q96GR9, Q9UGB8
Entry historyiIntegrated into UniProtKB/Swiss-Prot: December 1, 2000
Last sequence update: March 28, 2018
Last modified: November 7, 2018
This is version 175 of the entry and version 4 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

Complete proteome, Reference proteome

Documents

  1. SIMILARITY comments
    Index of protein domains and families
  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. Human chromosome 22
    Human chromosome 22: entries, gene names and cross-references to MIM
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