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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

GO - Biological processi

  • myelination Source: UniProtKB
  • protein tetramerization Source: Ensembl
  • regulation of GTPase activity Source: InterPro

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 lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
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

PTM databases

DEPODiQ86WG5
iPTMnetiQ86WG5
PhosphoSitePlusiQ86WG5

Expressioni

Tissue specificityi

Widely expressed. Expressed in spinal cord.1 Publication

Gene expression databases

BgeeiENSG00000133812
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

Protein-protein interaction databases

BioGridi123597, 25 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

Phylogenomic databases

eggNOGiKOG1090 Eukaryota
KOG4471 Eukaryota
ENOG410XTJ1 LUCA
GeneTreeiENSGT00760000118819
HOVERGENiHBG052527
InParanoidiQ86WG5
KOiK18061
OMAiRFIDKVC
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, 2 hits
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

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

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

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: March 28, 2018
This is version 135 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. Human chromosome 11
    Human chromosome 11: 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

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