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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

Caution

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

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 lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
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 Publication1
Natural variantiVAR_0700471565T → A in CMT4B3. 1 Publication1

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

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

GO - Molecular functioni

  • Rab guanyl-nucleotide exchange factor activity Source: UniProtKB

Protein-protein interaction databases

BioGridi11221249 interactors.
IntActiO95248 7 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

Phylogenomic databases

eggNOGiKOG1090 Eukaryota
KOG2080 Eukaryota
ENOG410XTJ1 LUCA
GeneTreeiENSGT00760000118819
HOVERGENiHBG052527
InParanoidiO95248
KOiK18061
OMAiLIYTIHV
OrthoDBiEOG091G00CQ
PhylomeDBiO95248
TreeFamiTF318583

Family and domain databases

Gene3Di2.30.29.301 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, 2 hits
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

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

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 Publication1
Natural variantiVAR_0700471565T → A in CMT4B3. 1 Publication1

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 [O95248-4]
RefSeqiNP_002963.2, NM_002972.3 [O95248-4]
UniGeneiHs.589924

Genome annotation databases

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

Keywords - Coding sequence diversityi

Alternative splicing

Similar proteinsi

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: April 25, 2018
This is version 171 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