UniProtKB - Q86WG5 (MTMRD_HUMAN)
Myotubularin-related protein 13
SBF2
Functioni
Caution
GO - Molecular functioni
- phosphatase binding Source: Ensembl
- phosphatase regulator activity Source: Ensembl
- phosphatidylinositol binding Source: Ensembl
- Rab guanyl-nucleotide exchange factor activity Source: UniProtKB
GO - Biological processi
- autophagy Source: UniProtKB-KW
- myelination Source: UniProtKB
- regulation of GTPase activity Source: InterPro
Keywordsi
Molecular function | Guanine-nucleotide releasing factor |
Biological process | Autophagy |
Enzyme and pathway databases
PathwayCommonsi | Q86WG5 |
Reactomei | R-HSA-1660499, Synthesis of PIPs at the plasma membrane R-HSA-8876198, RAB GEFs exchange GTP for GDP on RABs |
Names & Taxonomyi
Protein namesi | Recommended name: Myotubularin-related protein 13CuratedAlternative name(s): Inactive phosphatidylinositol 3-phosphatase 13Curated SET-binding factor 21 Publication |
Gene namesi | Name:SBF2 Synonyms:CMT4B2, KIAA1766, MTMR13 |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
EuPathDBi | HostDB:ENSG00000133812.14 |
HGNCi | HGNC:2135, SBF2 |
MIMi | 607697, gene |
neXtProti | NX_Q86WG5 |
Subcellular locationi
Endosome
- Endosome membrane By similarity; Peripheral membrane protein Curated
Other locations
- Cytoplasm 1 Publication
- perinuclear region By similarity
- Membrane 1 Publication; Peripheral membrane protein 1 Publication
- axon By similarity
Note: Associated with membranes (PubMed:15998640). Localizes to vacuoles in hypo-osmotic conditions (By similarity). Membrane localization is likely to be mediated via its interaction with MTMR2 (By similarity).By similarity1 Publication
Cytosol
- cytosol Source: Reactome
Endosome
- endosome membrane Source: UniProtKB-SubCell
Other locations
- axon Source: UniProtKB-SubCell
- membrane Source: UniProtKB
- perinuclear region of cytoplasm Source: UniProtKB-SubCell
- vacuolar membrane Source: Ensembl
Keywords - Cellular componenti
Cell projection, Cytoplasm, Endosome, MembranePathology & Biotechi
Involvement in diseasei
Charcot-Marie-Tooth disease 4B2 (CMT4B2)4 Publications
Keywords - Diseasei
Charcot-Marie-Tooth disease, Neurodegeneration, NeuropathyOrganism-specific databases
DisGeNETi | 81846 |
GeneReviewsi | SBF2 |
MalaCardsi | SBF2 |
MIMi | 604563, phenotype |
OpenTargetsi | ENSG00000133812 |
Orphaneti | 99956, Charcot-Marie-Tooth disease type 4B2 |
PharmGKBi | PA26649 |
Miscellaneous databases
Pharosi | Q86WG5, Tbio |
Polymorphism and mutation databases
BioMutai | SBF2 |
DMDMi | 74750502 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
ChainiPRO_0000094945 | 1 – 1849 | Myotubularin-related protein 13Add BLAST | 1849 |
Amino acid modifications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Modified residuei | 1127 | PhosphoserineCombined sources | 1 | |
Modified residuei | 1279 | PhosphoserineCombined sources | 1 |
Keywords - PTMi
PhosphoproteinProteomic databases
EPDi | Q86WG5 |
jPOSTi | Q86WG5 |
MassIVEi | Q86WG5 |
MaxQBi | Q86WG5 |
PaxDbi | Q86WG5 |
PeptideAtlasi | Q86WG5 |
PRIDEi | Q86WG5 |
ProteomicsDBi | 70158 [Q86WG5-1] 70159 [Q86WG5-3] |
PTM databases
DEPODi | SBF2 |
iPTMneti | Q86WG5 |
PhosphoSitePlusi | Q86WG5 |
Expressioni
Tissue specificityi
Gene expression databases
Bgeei | ENSG00000133812, Expressed in epithelial cell of pancreas and 208 other tissues |
ExpressionAtlasi | Q86WG5, baseline and differential |
Genevisiblei | Q86WG5, HS |
Organism-specific databases
HPAi | ENSG00000133812, Low tissue specificity |
Interactioni
Subunit structurei
Homodimer (By similarity). Heterotetramer consisting of one MTMR2 dimer and one SBF2/MTMR13 dimer (PubMed:15998640).
Interacts with class II PI3-kinase PIK3C2A (By similarity).
Interacts (via DENN domain) with RAB21 (in GDP-bound form) in response to starvation; the interaction activates RAB21 (PubMed:25648148).
Interacts with VAMP8 in response to starvation (PubMed:25648148).
By similarity2 PublicationsBinary interactionsi
Hide detailsGO - Molecular functioni
- phosphatase binding Source: Ensembl
- Rab guanyl-nucleotide exchange factor activity Source: UniProtKB
Protein-protein interaction databases
BioGRIDi | 123597, 32 interactors |
IntActi | Q86WG5, 11 interactors |
STRINGi | 9606.ENSP00000256190 |
Miscellaneous databases
RNActi | Q86WG5, protein |
Family & Domainsi
Domains and Repeats
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Domaini | 7 – 172 | uDENNPROSITE-ProRule annotationAdd BLAST | 166 | |
Domaini | 191 – 324 | cDENNPROSITE-ProRule annotationAdd BLAST | 134 | |
Domaini | 326 – 427 | dDENNPROSITE-ProRule annotationAdd BLAST | 102 | |
Domaini | 871 – 957 | GRAMSequence analysisAdd BLAST | 87 | |
Domaini | 1108 – 1584 | Myotubularin phosphatasePROSITE-ProRule annotationAdd BLAST | 477 | |
Domaini | 1743 – 1847 | PHPROSITE-ProRule annotationAdd BLAST | 105 |
Region
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Regioni | 1629 – 1682 | Required for homodimerization and interaction with MTMR2By similarity1 PublicationAdd BLAST | 54 |
Domaini
Sequence similaritiesi
Phylogenomic databases
eggNOGi | KOG1090, Eukaryota KOG4471, Eukaryota |
GeneTreei | ENSGT00940000155385 |
HOGENOMi | CLU_002298_1_1_1 |
InParanoidi | Q86WG5 |
OMAi | PNAYVCL |
PhylomeDBi | Q86WG5 |
TreeFami | TF318583 |
Family and domain databases
CDDi | cd13339, PH-GRAM_MTMR13, 1 hit |
Gene3Di | 2.30.29.30, 1 hit 3.40.50.11500, 1 hit |
InterProi | View protein in InterPro IPR001194, cDENN_dom IPR005112, dDENN_dom IPR043153, DENN_C IPR004182, GRAM IPR030567, MTMR13 IPR037823, MTMR13_PH-GRAM 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 |
PANTHERi | PTHR10807, PTHR10807, 1 hit PTHR10807:SF4, PTHR10807:SF4, 1 hit |
Pfami | View 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 |
SMARTi | View protein in SMART SM00801, dDENN, 1 hit SM00799, DENN, 1 hit SM00568, GRAM, 1 hit SM00233, PH, 1 hit SM00800, uDENN, 1 hit |
SUPFAMi | SSF52799, SSF52799, 1 hit |
PROSITEi | View protein in PROSITE PS50211, DENN, 1 hit PS50003, PH_DOMAIN, 1 hit PS51339, PPASE_MYOTUBULARIN, 1 hit |
s (2+)i Sequence
Sequence statusi: Complete.
This entry describes 2 produced by isoformsialternative splicing. AlignAdd to basketThis entry has 2 described isoforms and 6 potential isoforms that are computationally mapped.Show allAlign All
This isoform has been chosen as the sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry. canonicali
10 20 30 40 50
MARLADYFIV VGYDHEKPGS GEGLGKIIQR FPQKDWDDTP FPQGIELFCQ
60 70 80 90 100
PGGWQLSRER KQPTFFVVVL TDIDSDRHYC SCLTFYEAEI NLQGTKKEEI
110 120 130 140 150
EGEAKVSGLI QPAEVFAPKS LVLVSRLYYP EIFRACLGLI YTVYVDSLNV
160 170 180 190 200
SLESLIANLC ACLVPAAGGS QKLFSLGAGD RQLIQTPLHD SLPITGTSVA
210 220 230 240 250
LLFQQLGIQN VLSLFCAVLT ENKVLFHSAS FQRLSDACRA LESLMFPLKY
260 270 280 290 300
SYPYIPILPA QLLEVLSSPT PFIIGVHSVF KTDVHELLDV IIADLDGGTI
310 320 330 340 350
KIPECIHLSS LPEPLLHQTQ SALSLILHPD LEVADHAFPP PRTALSHSKM
360 370 380 390 400
LDKEVRAVFL RLFAQLFQGY RSCLQLIRIH AEPVIHFHKT AFLGQRGLVE
410 420 430 440 450
NDFLTKVLSG MAFAGFVSER GPPYRSCDLF DELVAFEVER IKVEENNPVK
460 470 480 490 500
MIKHVRELAE QLFKNENPNP HMAFQKVPRP TEGSHLRVHI LPFPEINEAR
510 520 530 540 550
VQELIQENVA KNQNAPPATR IEKKCVVPAG PPVVSIMDKV TTVFNSAQRL
560 570 580 590 600
EVVRNCISFI FENKILETEK TLPAALRALK GKAARQCLTD ELGLHVQQNR
610 620 630 640 650
AILDHQQFDY IIRMMNCTLQ DCSSLEEYNI AAALLPLTSA FYRKLAPGVS
660 670 680 690 700
QFAYTCVQDH PIWTNQQFWE TTFYNAVQEQ VRSLYLSAKE DNHAPHLKQK
710 720 730 740 750
DKLPDDHYQE KTAMDLAAEQ LRLWPTLSKS TQQELVQHEE STVFSQAIHF
760 770 780 790 800
ANLMVNLLVP LDTSKNKLLR TSAPGDWESG SNSIVTNSIA GSVAESYDTE
810 820 830 840 850
SGFEDSENTD IANSVVRFIT RFIDKVCTES GVTQDHIKSL HCMIPGIVAM
860 870 880 890 900
HIETLEAVHR ESRRLPPIQK PKILRPALLP GEEIVCEGLR VLLDPDGREE
910 920 930 940 950
ATGGLLGGPQ LLPAEGALFL TTYRILFRGT PHDQLVGEQT VVRSFPIASI
960 970 980 990 1000
TKEKKITMQN QLQQNMQEGL QITSASFQLI KVAFDEEVSP EVVEIFKKQL
1010 1020 1030 1040 1050
MKFRYPQSIF STFAFAAGQT TPQIILPKQK EKNTSFRTFS KTIVKGAKRA
1060 1070 1080 1090 1100
GKMTIGRQYL LKKKTGTIVE ERVNRPGWNE DDDVSVSDES ELPTSTTLKA
1110 1120 1130 1140 1150
SEKSTMEQLV EKACFRDYQR LGLGTISGSS SRSRPEYFRI TASNRMYSLC
1160 1170 1180 1190 1200
RSYPGLLVVP QAVQDSSLPR VARCYRHNRL PVVCWKNSRS GTLLLRSGGF
1210 1220 1230 1240 1250
HGKGVVGLFK SQNSPQAAPT SSLESSSSIE QEKYLQALLN AVSVHQKLRG
1260 1270 1280 1290 1300
NSTLTVRPAF ALSPGVWASL RSSTRLISSP TSFIDVGARL AGKDHSASFS
1310 1320 1330 1340 1350
NSSYLQNQLL KRQAALYIFG EKSQLRNFKV EFALNCEFVP VEFHEIRQVK
1360 1370 1380 1390 1400
ASFKKLMRAC IPSTIPTDSE VTFLKALGDS EWFPQLHRIM QLAVVVSEVL
1410 1420 1430 1440 1450
ENGSSVLVCL EEGWDITAQV TSLVQLLSDP FYRTLEGFQM LVEKEWLSFG
1460 1470 1480 1490 1500
HKFSQRSSLT LNCQGSGFAP VFLQFLDCVH QVHNQYPTEF EFNLYYLKFL
1510 1520 1530 1540 1550
AFHYVSNRFK TFLLDSDYER LEHGTLFDDK GEKHAKKGVC IWECIDRMHK
1560 1570 1580 1590 1600
RSPIFFNYLY SPLEIEALKP NVNVSSLKKW DYYIEETLST GPSYDWMMLT
1610 1620 1630 1640 1650
PKHFPSEDSD LAGEAGPRSQ RRTVWPCYDD VSCTQPDALT SLFSEIEKLE
1660 1670 1680 1690 1700
HKLNQAPEKW QQLWERVTVD LKEEPRTDRS QRHLSRSPGI VSTNLPSYQK
1710 1720 1730 1740 1750
RSLLHLPDSS MGEEQNSSIS PSNGVERRAA TLYSQYTSKN DENRSFEGTL
1760 1770 1780 1790 1800
YKRGALLKGW KPRWFVLDVT KHQLRYYDSG EDTSCKGHID LAEVEMVIPA
1810 1820 1830 1840
GPSMGAPKHT SDKAFFDLKT SKRVYNFCAQ DGQSAQQWMD KIQSCISDA
Computationally mapped potential isoform sequencesi
There are 6 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basketH0YDZ1 | H0YDZ1_HUMAN | Myotubularin-related protein 13 | SBF2 | 132 | Annotation score: | ||
H0YD05 | H0YD05_HUMAN | Myotubularin-related protein 13 | SBF2 | 331 | Annotation score: | ||
H0Y767 | H0Y767_HUMAN | Myotubularin-related protein 13 | SBF2 | 396 | Annotation score: | ||
A0A6Q8PH13 | A0A6Q8PH13_HUMAN | Myotubularin-related protein 13 | SBF2 | 1,874 | Annotation score: | ||
A0A6Q8PH87 | A0A6Q8PH87_HUMAN | Myotubularin-related protein 13 | SBF2 | 1,267 | Annotation score: | ||
A0A6Q8PHP8 | A0A6Q8PHP8_HUMAN | Myotubularin-related protein 13 | SBF2 | 1,868 | Annotation score: |
Experimental Info
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Sequence conflicti | 1586 | E → G in CAH18167 (PubMed:17974005).Curated | 1 | |
Sequence conflicti | 1665 | E → V in CAH18167 (PubMed:17974005).Curated | 1 |
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_051766 | 303 | P → L. Corresponds to variant dbSNP:rs16907355Ensembl. | 1 | |
Natural variantiVAR_051767 | 679 | E → K. Corresponds to variant dbSNP:rs7102464EnsemblClinVar. | 1 | |
Natural variantiVAR_051768 | 1216 | Q → E1 PublicationCorresponds to variant dbSNP:rs12574508EnsemblClinVar. | 1 |
Alternative sequence
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Alternative sequenceiVSP_017157 | 1152 | S → R in isoform 3. 1 Publication | 1 | |
Alternative sequenceiVSP_017158 | 1153 – 1849 | Missing in isoform 3. 1 PublicationAdd BLAST | 697 |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AY234241 mRNA Translation: AAO62733.1 BC011143 mRNA Translation: AAH11143.1 BC043389 mRNA Translation: AAH43389.1 BC053867 mRNA Translation: AAH53867.1 BC063656 mRNA Translation: AAH63656.1 BC101466 mRNA Translation: AAI01467.1 AB051553 mRNA Translation: BAB21857.1 BX538184 mRNA Translation: CAD98056.1 CR749312 mRNA Translation: CAH18167.1 |
CCDSi | CCDS31427.1 [Q86WG5-1] |
RefSeqi | NP_112224.1, NM_030962.3 [Q86WG5-1] |
Genome annotation databases
Ensembli | ENST00000256190; ENSP00000256190; ENSG00000133812 [Q86WG5-1] |
GeneIDi | 81846 |
KEGGi | hsa:81846 |
UCSCi | uc001mib.2, human [Q86WG5-1] |
Keywords - Coding sequence diversityi
Alternative splicing, PolymorphismSimilar proteinsi
Cross-referencesi
Web resourcesi
Inherited peripheral neuropathies mutation db |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AY234241 mRNA Translation: AAO62733.1 BC011143 mRNA Translation: AAH11143.1 BC043389 mRNA Translation: AAH43389.1 BC053867 mRNA Translation: AAH53867.1 BC063656 mRNA Translation: AAH63656.1 BC101466 mRNA Translation: AAI01467.1 AB051553 mRNA Translation: BAB21857.1 BX538184 mRNA Translation: CAD98056.1 CR749312 mRNA Translation: CAH18167.1 |
CCDSi | CCDS31427.1 [Q86WG5-1] |
RefSeqi | NP_112224.1, NM_030962.3 [Q86WG5-1] |
3D structure databases
SMRi | Q86WG5 |
ModBasei | Search... |
Protein-protein interaction databases
BioGRIDi | 123597, 32 interactors |
IntActi | Q86WG5, 11 interactors |
STRINGi | 9606.ENSP00000256190 |
PTM databases
DEPODi | SBF2 |
iPTMneti | Q86WG5 |
PhosphoSitePlusi | Q86WG5 |
Polymorphism and mutation databases
BioMutai | SBF2 |
DMDMi | 74750502 |
Proteomic databases
EPDi | Q86WG5 |
jPOSTi | Q86WG5 |
MassIVEi | Q86WG5 |
MaxQBi | Q86WG5 |
PaxDbi | Q86WG5 |
PeptideAtlasi | Q86WG5 |
PRIDEi | Q86WG5 |
ProteomicsDBi | 70158 [Q86WG5-1] 70159 [Q86WG5-3] |
Protocols and materials databases
Antibodypediai | 24321, 36 antibodies |
Genome annotation databases
Ensembli | ENST00000256190; ENSP00000256190; ENSG00000133812 [Q86WG5-1] |
GeneIDi | 81846 |
KEGGi | hsa:81846 |
UCSCi | uc001mib.2, human [Q86WG5-1] |
Organism-specific databases
CTDi | 81846 |
DisGeNETi | 81846 |
EuPathDBi | HostDB:ENSG00000133812.14 |
GeneCardsi | SBF2 |
GeneReviewsi | SBF2 |
HGNCi | HGNC:2135, SBF2 |
HPAi | ENSG00000133812, Low tissue specificity |
MalaCardsi | SBF2 |
MIMi | 604563, phenotype 607697, gene |
neXtProti | NX_Q86WG5 |
OpenTargetsi | ENSG00000133812 |
Orphaneti | 99956, Charcot-Marie-Tooth disease type 4B2 |
PharmGKBi | PA26649 |
HUGEi | Search... |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | KOG1090, Eukaryota KOG4471, Eukaryota |
GeneTreei | ENSGT00940000155385 |
HOGENOMi | CLU_002298_1_1_1 |
InParanoidi | Q86WG5 |
OMAi | PNAYVCL |
PhylomeDBi | Q86WG5 |
TreeFami | TF318583 |
Enzyme and pathway databases
PathwayCommonsi | Q86WG5 |
Reactomei | R-HSA-1660499, Synthesis of PIPs at the plasma membrane R-HSA-8876198, RAB GEFs exchange GTP for GDP on RABs |
Miscellaneous databases
BioGRID-ORCSi | 81846, 2 hits in 845 CRISPR screens |
ChiTaRSi | SBF2, human |
GeneWikii | SBF2 |
GenomeRNAii | 81846 |
Pharosi | Q86WG5, Tbio |
PROi | PR:Q86WG5 |
RNActi | Q86WG5, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000133812, Expressed in epithelial cell of pancreas and 208 other tissues |
ExpressionAtlasi | Q86WG5, baseline and differential |
Genevisiblei | Q86WG5, HS |
Family and domain databases
CDDi | cd13339, PH-GRAM_MTMR13, 1 hit |
Gene3Di | 2.30.29.30, 1 hit 3.40.50.11500, 1 hit |
InterProi | View protein in InterPro IPR001194, cDENN_dom IPR005112, dDENN_dom IPR043153, DENN_C IPR004182, GRAM IPR030567, MTMR13 IPR037823, MTMR13_PH-GRAM 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 |
PANTHERi | PTHR10807, PTHR10807, 1 hit PTHR10807:SF4, PTHR10807:SF4, 1 hit |
Pfami | View 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 |
SMARTi | View protein in SMART SM00801, dDENN, 1 hit SM00799, DENN, 1 hit SM00568, GRAM, 1 hit SM00233, PH, 1 hit SM00800, uDENN, 1 hit |
SUPFAMi | SSF52799, SSF52799, 1 hit |
PROSITEi | View protein in PROSITE PS50211, DENN, 1 hit PS50003, PH_DOMAIN, 1 hit PS51339, PPASE_MYOTUBULARIN, 1 hit |
ProtoNeti | Search... |
MobiDBi | Search... |
Entry informationi
Entry namei | MTMRD_HUMAN | |
Accessioni | Q86WG5Primary (citable) accession number: Q86WG5 Secondary accession number(s): Q3MJF0 Q9C097 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | February 7, 2006 |
Last sequence update: | June 1, 2003 | |
Last modified: | December 2, 2020 | |
This is version 155 of the entry and version 1 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any 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
Reference proteomeDocuments
- Human polymorphisms and disease mutations
Index of human polymorphisms and disease mutations - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot - SIMILARITY comments
Index of protein domains and families - Human chromosome 11
Human chromosome 11: entries, gene names and cross-references to MIM - Human entries with polymorphisms or disease mutations
List of human entries with polymorphisms or disease mutations