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UniProtKB - Q86WG5 (MTMRD_HUMAN)

Protein

Myotubularin-related protein 13

Gene

SBF2

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

Functioni

Guanine nucleotide exchange factor (GEF) which may activate RAB28. Promotes the exchange of GDP to GTP, converting inactive GDP-bound Rab proteins into their active GTP-bound form.1 Publication

Caution

In contrast to other members of the family, it lacks a canonical protein-tyrosine phosphatase domain and lacks the conserved Cys residue in position 1410 which is replaced by a Leu residue. It therefore probably does not have phosphatase activity.Curated

GO - Molecular functioni

View the complete GO annotation on QuickGO ...

GO - Biological processi

  • myelination Source: UniProtKB
  • protein tetramerization Source: Ensembl
  • regulation of GTPase activity Source: InterPro
View the complete GO annotation on QuickGO ...

Keywordsi

Molecular functionGuanine-nucleotide releasing factor

Enzyme and pathway databases

ReactomeiR-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 13
Alternative name(s):
SET-binding factor 2
Gene namesi
Name:SBF2
Synonyms:CMT4B2, KIAA1766, MTMR13
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 11

Organism-specific databases

EuPathDBiHostDB:ENSG00000133812.14
HGNCiHGNC:2135 SBF2
MIMi607697 gene
neXtProtiNX_Q86WG5

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

Cytoplasm, Membrane

Pathology & Biotechi

Involvement in diseasei

Charcot-Marie-Tooth disease 4B2 (CMT4B2)4 Publications
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:604563

Keywords - Diseasei

Charcot-Marie-Tooth disease, Neurodegeneration, Neuropathy

Organism-specific databases

DisGeNETi81846
GeneReviewsiSBF2
MalaCardsiSBF2
MIMi604563 phenotype
OpenTargetsiENSG00000133812
Orphaneti99956 Charcot-Marie-Tooth disease type 4B2
PharmGKBiPA26649

Polymorphism and mutation databases

BioMutaiSBF2
DMDMi74750502

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000949451 – 1849Myotubularin-related protein 13Add BLAST1849

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei1127PhosphoserineCombined sources1
Modified residuei1279PhosphoserineCombined sources1

Keywords - PTMi

Phosphoprotein

Proteomic databases

EPDiQ86WG5
MaxQBiQ86WG5
PaxDbiQ86WG5
PeptideAtlasiQ86WG5
PRIDEiQ86WG5
ProteomicsDBi70158
70159 [Q86WG5-3]

PTM databases

DEPODiQ86WG5
iPTMnetiQ86WG5
PhosphoSitePlusiQ86WG5

Expressioni

Tissue specificityi

Widely expressed. Expressed in spinal cord.1 Publication

Gene expression databases

BgeeiENSG00000133812 Expressed in 196 organ(s), highest expression level in epithelial cell of pancreas
ExpressionAtlasiQ86WG5 baseline and differential
GenevisibleiQ86WG5 HS

Organism-specific databases

HPAiHPA050933

Interactioni

Subunit structurei

Interacts with MTMR2.1 Publication

Binary interactionsi

WithEntry#Exp.IntActNotes
RBPMSQ930623EBI-2683289,EBI-740322

GO - Molecular functioni

View the complete GO annotation on QuickGO ...

Protein-protein interaction databases

BioGridi123597, 26 interactors
IntActiQ86WG5, 9 interactors
STRINGi9606.ENSP00000256190

Structurei

3D structure databases

ProteinModelPortaliQ86WG5
SMRiQ86WG5
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini7 – 172uDENNPROSITE-ProRule annotationAdd BLAST166
Domaini191 – 324cDENNPROSITE-ProRule annotationAdd BLAST134
Domaini326 – 427dDENNPROSITE-ProRule annotationAdd BLAST102
Domaini871 – 957GRAMAdd BLAST87
Domaini1108 – 1584Myotubularin phosphatasePROSITE-ProRule annotationAdd BLAST477
Domaini1743 – 1847PHPROSITE-ProRule annotationAdd BLAST105

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni1630 – 1683Interaction with MTMR21 PublicationAdd BLAST54

Sequence similaritiesi

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

Phylogenomic databases

eggNOGiKOG1090 Eukaryota
KOG4471 Eukaryota
ENOG410XTJ1 LUCA
GeneTreeiENSGT00760000118832
HOVERGENiHBG052527
InParanoidiQ86WG5
KOiK18061
OMAiCVPSTIP
OrthoDBiEOG091G00CQ
PhylomeDBiQ86WG5
TreeFamiTF318583

Family and domain databases

CDDicd13339 PH-GRAM_MTMR13, 1 hit
Gene3Di2.30.29.30, 1 hit
InterProiView protein in InterPro
IPR001194 cDENN_dom
IPR005112 dDENN_dom
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
PANTHERiPTHR10807 PTHR10807, 1 hit
PTHR10807:SF4 PTHR10807:SF4, 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 (2+)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 2 described isoforms and 3 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: Q86WG5-1) [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
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
Length:1,849
Mass (Da):208,464
Last modified:June 1, 2003 - v1
Checksum:i9EDBA3E3AC05DD3E
GO
Isoform 3 (identifier: Q86WG5-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1152-1152: S → R
     1153-1849: Missing.

Note: No experimental confirmation available.
Show »
Length:1,152
Mass (Da):129,344
Checksum:iAE52CCAFC9E5C70F
GO

Computationally mapped potential isoform sequencesi

There are 3 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
H0YD05H0YD05_HUMAN
Myotubularin-related protein 13
SBF2
331Annotation score:
H0Y767H0Y767_HUMAN
Myotubularin-related protein 13
SBF2
396Annotation score:
H0YDZ1H0YDZ1_HUMAN
Myotubularin-related protein 13
SBF2
132Annotation score:

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti1586E → G in CAH18167 (PubMed:17974005).Curated1
Sequence conflicti1665E → V in CAH18167 (PubMed:17974005).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_051766303P → L. Corresponds to variant dbSNP:rs16907355Ensembl.1
Natural variantiVAR_051767679E → K. Corresponds to variant dbSNP:rs7102464EnsemblClinVar.1
Natural variantiVAR_0517681216Q → E1 PublicationCorresponds to variant dbSNP:rs12574508EnsemblClinVar.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0171571152S → R in isoform 3. 1 Publication1
Alternative sequenceiVSP_0171581153 – 1849Missing in isoform 3. 1 PublicationAdd BLAST697

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
CCDSiCCDS31427.1 [Q86WG5-1]
RefSeqiNP_112224.1, NM_030962.3 [Q86WG5-1]
UniGeneiHs.577252

Genome annotation databases

EnsembliENST00000256190; ENSP00000256190; ENSG00000133812 [Q86WG5-1]
GeneIDi81846
KEGGihsa:81846
UCSCiuc001mib.2 human [Q86WG5-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar 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
CCDSiCCDS31427.1 [Q86WG5-1]
RefSeqiNP_112224.1, NM_030962.3 [Q86WG5-1]
UniGeneiHs.577252

3D structure databases

ProteinModelPortaliQ86WG5
SMRiQ86WG5
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi123597, 26 interactors
IntActiQ86WG5, 9 interactors
STRINGi9606.ENSP00000256190

PTM databases

DEPODiQ86WG5
iPTMnetiQ86WG5
PhosphoSitePlusiQ86WG5

Polymorphism and mutation databases

BioMutaiSBF2
DMDMi74750502

Proteomic databases

EPDiQ86WG5
MaxQBiQ86WG5
PaxDbiQ86WG5
PeptideAtlasiQ86WG5
PRIDEiQ86WG5
ProteomicsDBi70158
70159 [Q86WG5-3]

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000256190; ENSP00000256190; ENSG00000133812 [Q86WG5-1]
GeneIDi81846
KEGGihsa:81846
UCSCiuc001mib.2 human [Q86WG5-1]

Organism-specific databases

CTDi81846
DisGeNETi81846
EuPathDBiHostDB:ENSG00000133812.14
GeneCardsiSBF2
GeneReviewsiSBF2
HGNCiHGNC:2135 SBF2
HPAiHPA050933
MalaCardsiSBF2
MIMi604563 phenotype
607697 gene
neXtProtiNX_Q86WG5
OpenTargetsiENSG00000133812
Orphaneti99956 Charcot-Marie-Tooth disease type 4B2
PharmGKBiPA26649
HUGEiSearch...
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG1090 Eukaryota
KOG4471 Eukaryota
ENOG410XTJ1 LUCA
GeneTreeiENSGT00760000118832
HOVERGENiHBG052527
InParanoidiQ86WG5
KOiK18061
OMAiCVPSTIP
OrthoDBiEOG091G00CQ
PhylomeDBiQ86WG5
TreeFamiTF318583

Enzyme and pathway databases

ReactomeiR-HSA-1660499 Synthesis of PIPs at the plasma membrane
R-HSA-8876198 RAB GEFs exchange GTP for GDP on RABs

Miscellaneous databases

ChiTaRSiSBF2 human
GeneWikiiSBF2
GenomeRNAii81846
PROiPR:Q86WG5
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000133812 Expressed in 196 organ(s), highest expression level in epithelial cell of pancreas
ExpressionAtlasiQ86WG5 baseline and differential
GenevisibleiQ86WG5 HS

Family and domain databases

CDDicd13339 PH-GRAM_MTMR13, 1 hit
Gene3Di2.30.29.30, 1 hit
InterProiView protein in InterPro
IPR001194 cDENN_dom
IPR005112 dDENN_dom
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
PANTHERiPTHR10807 PTHR10807, 1 hit
PTHR10807:SF4 PTHR10807:SF4, 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 nameiMTMRD_HUMAN
AccessioniPrimary (citable) accession number: Q86WG5
Secondary accession number(s): Q3MJF0
, Q68DQ3, Q6P459, Q6PJD1, Q7Z325, Q7Z621, Q86VE2, Q96FE2, Q9C097
Entry historyiIntegrated into UniProtKB/Swiss-Prot: February 7, 2006
Last sequence update: June 1, 2003
Last modified: November 7, 2018
This is version 139 of the entry and version 1 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 11
    Human chromosome 11: entries, gene names and cross-references to MIM
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