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Q86WG5 (MTMRD_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 97. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Web links·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Myotubularin-related protein 13
Alternative name(s):
SET-binding factor 2
Gene names
Name:SBF2
Synonyms:CMT4B2, KIAA1766, MTMR13
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length1849 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

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. Ref.10

Subunit structure

Interacts with MTMR2. Ref.8

Subcellular location

Cytoplasm. Membrane; Peripheral membrane protein. Note: Associated with membranes. Ref.8

Tissue specificity

Widely expressed. Expressed in spinal cord. Ref.1

Involvement in disease

Charcot-Marie-Tooth disease 4B2 (CMT4B2) [MIM:604563]: A 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.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.1 Ref.5 Ref.6 Ref.7

Sequence similarities

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

Contains 1 dDENN domain.

Contains 1 DENN domain.

Contains 1 GRAM domain.

Contains 1 myotubularin phosphatase domain.

Contains 1 PH domain.

Contains 1 uDENN domain.

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.

Alternative products

This entry describes 2 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: Q86WG5-1)

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.
Isoform 3 (identifier: Q86WG5-3)

The sequence of this isoform differs from the canonical sequence as follows:
     1152-1152: S → R
     1153-1849: Missing.
Note: No experimental confirmation available.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 18491849Myotubularin-related protein 13
PRO_0000094945

Regions

Domain18 – 8669UDENN
Domain116 – 298183DENN
Domain351 – 42070dDENN
Domain871 – 95787GRAM
Domain1108 – 1584477Myotubularin phosphatase
Domain1743 – 1847105PH
Region1630 – 168354Interaction with MTMR2

Amino acid modifications

Modified residue11271Phosphoserine Ref.11

Natural variations

Alternative sequence11521S → R in isoform 3.
VSP_017157
Alternative sequence1153 – 1849697Missing in isoform 3.
VSP_017158
Natural variant3031P → L.
Corresponds to variant rs16907355 [ dbSNP | Ensembl ].
VAR_051766
Natural variant6791E → K.
Corresponds to variant rs7102464 [ dbSNP | Ensembl ].
VAR_051767
Natural variant12161Q → E. Ref.2
Corresponds to variant rs12574508 [ dbSNP | Ensembl ].
VAR_051768

Experimental info

Sequence conflict15861E → G in CAH18167. Ref.4
Sequence conflict16651E → V in CAH18167. Ref.4

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 [UniParc].

Last modified June 1, 2003. Version 1.
Checksum: 9EDBA3E3AC05DD3E

FASTA1,849208,464
        10         20         30         40         50         60 
MARLADYFIV VGYDHEKPGS GEGLGKIIQR FPQKDWDDTP FPQGIELFCQ PGGWQLSRER 

        70         80         90        100        110        120 
KQPTFFVVVL TDIDSDRHYC SCLTFYEAEI NLQGTKKEEI EGEAKVSGLI QPAEVFAPKS 

       130        140        150        160        170        180 
LVLVSRLYYP EIFRACLGLI YTVYVDSLNV SLESLIANLC ACLVPAAGGS QKLFSLGAGD 

       190        200        210        220        230        240 
RQLIQTPLHD SLPITGTSVA LLFQQLGIQN VLSLFCAVLT ENKVLFHSAS FQRLSDACRA 

       250        260        270        280        290        300 
LESLMFPLKY SYPYIPILPA QLLEVLSSPT PFIIGVHSVF KTDVHELLDV IIADLDGGTI 

       310        320        330        340        350        360 
KIPECIHLSS LPEPLLHQTQ SALSLILHPD LEVADHAFPP PRTALSHSKM LDKEVRAVFL 

       370        380        390        400        410        420 
RLFAQLFQGY RSCLQLIRIH AEPVIHFHKT AFLGQRGLVE NDFLTKVLSG MAFAGFVSER 

       430        440        450        460        470        480 
GPPYRSCDLF DELVAFEVER IKVEENNPVK MIKHVRELAE QLFKNENPNP HMAFQKVPRP 

       490        500        510        520        530        540 
TEGSHLRVHI LPFPEINEAR VQELIQENVA KNQNAPPATR IEKKCVVPAG PPVVSIMDKV 

       550        560        570        580        590        600 
TTVFNSAQRL EVVRNCISFI FENKILETEK TLPAALRALK GKAARQCLTD ELGLHVQQNR 

       610        620        630        640        650        660 
AILDHQQFDY IIRMMNCTLQ DCSSLEEYNI AAALLPLTSA FYRKLAPGVS QFAYTCVQDH 

       670        680        690        700        710        720 
PIWTNQQFWE TTFYNAVQEQ VRSLYLSAKE DNHAPHLKQK DKLPDDHYQE KTAMDLAAEQ 

       730        740        750        760        770        780 
LRLWPTLSKS TQQELVQHEE STVFSQAIHF ANLMVNLLVP LDTSKNKLLR TSAPGDWESG 

       790        800        810        820        830        840 
SNSIVTNSIA GSVAESYDTE SGFEDSENTD IANSVVRFIT RFIDKVCTES GVTQDHIKSL 

       850        860        870        880        890        900 
HCMIPGIVAM HIETLEAVHR ESRRLPPIQK PKILRPALLP GEEIVCEGLR VLLDPDGREE 

       910        920        930        940        950        960 
ATGGLLGGPQ LLPAEGALFL TTYRILFRGT PHDQLVGEQT VVRSFPIASI TKEKKITMQN 

       970        980        990       1000       1010       1020 
QLQQNMQEGL QITSASFQLI KVAFDEEVSP EVVEIFKKQL MKFRYPQSIF STFAFAAGQT 

      1030       1040       1050       1060       1070       1080 
TPQIILPKQK EKNTSFRTFS KTIVKGAKRA GKMTIGRQYL LKKKTGTIVE ERVNRPGWNE 

      1090       1100       1110       1120       1130       1140 
DDDVSVSDES ELPTSTTLKA SEKSTMEQLV EKACFRDYQR LGLGTISGSS SRSRPEYFRI 

      1150       1160       1170       1180       1190       1200 
TASNRMYSLC RSYPGLLVVP QAVQDSSLPR VARCYRHNRL PVVCWKNSRS GTLLLRSGGF 

      1210       1220       1230       1240       1250       1260 
HGKGVVGLFK SQNSPQAAPT SSLESSSSIE QEKYLQALLN AVSVHQKLRG NSTLTVRPAF 

      1270       1280       1290       1300       1310       1320 
ALSPGVWASL RSSTRLISSP TSFIDVGARL AGKDHSASFS NSSYLQNQLL KRQAALYIFG 

      1330       1340       1350       1360       1370       1380 
EKSQLRNFKV EFALNCEFVP VEFHEIRQVK ASFKKLMRAC IPSTIPTDSE VTFLKALGDS 

      1390       1400       1410       1420       1430       1440 
EWFPQLHRIM QLAVVVSEVL ENGSSVLVCL EEGWDITAQV TSLVQLLSDP FYRTLEGFQM 

      1450       1460       1470       1480       1490       1500 
LVEKEWLSFG HKFSQRSSLT LNCQGSGFAP VFLQFLDCVH QVHNQYPTEF EFNLYYLKFL 

      1510       1520       1530       1540       1550       1560 
AFHYVSNRFK TFLLDSDYER LEHGTLFDDK GEKHAKKGVC IWECIDRMHK RSPIFFNYLY 

      1570       1580       1590       1600       1610       1620 
SPLEIEALKP NVNVSSLKKW DYYIEETLST GPSYDWMMLT PKHFPSEDSD LAGEAGPRSQ 

      1630       1640       1650       1660       1670       1680 
RRTVWPCYDD VSCTQPDALT SLFSEIEKLE HKLNQAPEKW QQLWERVTVD LKEEPRTDRS 

      1690       1700       1710       1720       1730       1740 
QRHLSRSPGI VSTNLPSYQK RSLLHLPDSS MGEEQNSSIS PSNGVERRAA TLYSQYTSKN 

      1750       1760       1770       1780       1790       1800 
DENRSFEGTL YKRGALLKGW KPRWFVLDVT KHQLRYYDSG EDTSCKGHID LAEVEMVIPA 

      1810       1820       1830       1840 
GPSMGAPKHT SDKAFFDLKT SKRVYNFCAQ DGQSAQQWMD KIQSCISDA 

« Hide

Isoform 3 [UniParc].

Checksum: AE52CCAFC9E5C70F
Show »

FASTA1,152129,344

References

« Hide 'large scale' references
[1]"Mutation of the SBF2 gene, encoding a novel member of the myotubularin family, in Charcot-Marie-Tooth neuropathy type 4B2/11p15."
Senderek J., Bergmann C., Weber S., Ketelsen U.-P., Schorle H., Rudnik-Schoeneborn S., Buettner R., Buchheim E., Zerres K.
Hum. Mol. Genet. 12:349-356(2003) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), INVOLVEMENT IN CMT4B2, TISSUE SPECIFICITY.
Tissue: Sciatic nerve.
[2]"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
The MGC Project Team
Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1), VARIANT GLU-1216.
Tissue: Brain, Cervix, Duodenum and Placenta.
[3]"Prediction of the coding sequences of unidentified human genes. XIX. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro."
Nagase T., Kikuno R., Hattori A., Kondo Y., Okumura K., Ohara O.
DNA Res. 7:347-355(2000) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 30-1152 (ISOFORM 3).
[4]"The full-ORF clone resource of the German cDNA consortium."
Bechtel S., Rosenfelder H., Duda A., Schmidt C.P., Ernst U., Wellenreuther R., Mehrle A., Schuster C., Bahr A., Bloecker H., Heubner D., Hoerlein A., Michel G., Wedler H., Koehrer K., Ottenwaelder B., Poustka A., Wiemann S., Schupp I.
BMC Genomics 8:399-399(2007) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 1187-1849 (ISOFORM 1).
Tissue: Fetal brain and Liver.
[5]"Mutations in MTMR13, a new pseudophosphatase homologue of MTMR2 and Sbf1, in two families with an autosomal recessive demyelinating form of Charcot-Marie-Tooth disease associated with early-onset glaucoma."
Azzedine H., Bolino A., Taieb T., Birouk N., Di Duca M., Bouhouche A., Benamou S., Mrabet A., Hammadouche T., Chkili T., Gouider R., Ravazzolo R., Brice A., Laporte J., LeGuern E.
Am. J. Hum. Genet. 72:1141-1153(2003) [PubMed] [Europe PMC] [Abstract]
Cited for: INVOLVEMENT IN CMT4B2.
[6]"SET binding factor 2 (SBF2) mutation causes CMT4B with juvenile onset glaucoma."
Hirano R., Takashima H., Umehara F., Arimura H., Michizono K., Okamoto Y., Nakagawa M., Boerkoel C.F., Lupski J.R., Osame M., Arimura K.
Neurology 63:577-580(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: INVOLVEMENT IN CMT4B2.
[7]"A new SBF2 mutation in a family with recessive demyelinating Charcot-Marie-Tooth (CMT4B2)."
Conforti F.L., Muglia M., Mazzei R., Patitucci A., Valentino P., Magariello A., Sprovieri T., Bono F., Bergmann C., Gabriele A.L., Peluso G., Nistico R., Senderek J., Quattrone A.
Neurology 63:1327-1328(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: INVOLVEMENT IN CMT4B2.
[8]"The phosphoinositide-3-phosphatase MTMR2 associates with MTMR13, a membrane-associated pseudophosphatase also mutated in type 4B Charcot-Marie-Tooth disease."
Robinson F.L., Dixon J.E.
J. Biol. Chem. 280:31699-31707(2005) [PubMed] [Europe PMC] [Abstract]
Cited for: INTERACTION WITH MTMR2, SUBCELLULAR LOCATION.
[9]"A quantitative atlas of mitotic phosphorylation."
Dephoure N., Zhou C., Villen J., Beausoleil S.A., Bakalarski C.E., Elledge S.J., Gygi S.P.
Proc. Natl. Acad. Sci. U.S.A. 105:10762-10767(2008) [PubMed] [Europe PMC] [Abstract]
Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
Tissue: Cervix carcinoma.
[10]"Family-wide characterization of the DENN domain Rab GDP-GTP exchange factors."
Yoshimura S., Gerondopoulos A., Linford A., Rigden D.J., Barr F.A.
J. Cell Biol. 191:367-381(2010) [PubMed] [Europe PMC] [Abstract]
Cited for: FUNCTION AS GUANYL-NUCLEOTIDE EXCHANGE FACTOR.
[11]"Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis."
Olsen J.V., Vermeulen M., Santamaria A., Kumar C., Miller M.L., Jensen L.J., Gnad F., Cox J., Jensen T.S., Nigg E.A., Brunak S., Mann M.
Sci. Signal. 3:RA3-RA3(2010) [PubMed] [Europe PMC] [Abstract]
Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-1127, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
Tissue: Cervix carcinoma.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
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.
CCDSCCDS31427.1. [Q86WG5-1]
RefSeqNP_112224.1. NM_030962.3. [Q86WG5-1]
UniGeneHs.577252.

3D structure databases

ProteinModelPortalQ86WG5.
SMRQ86WG5. Positions 27-420, 1136-1584, 1746-1847.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid123597. 3 interactions.
IntActQ86WG5. 1 interaction.

PTM databases

PhosphoSiteQ86WG5.

Polymorphism databases

DMDM74750502.

Proteomic databases

MaxQBQ86WG5.
PaxDbQ86WG5.
PRIDEQ86WG5.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000256190; ENSP00000256190; ENSG00000133812. [Q86WG5-1]
GeneID81846.
KEGGhsa:81846.
UCSCuc001mib.2. human. [Q86WG5-1]
uc001mif.3. human. [Q86WG5-3]

Organism-specific databases

CTD81846.
GeneCardsGC11M009800.
GeneReviewsSBF2.
HGNCHGNC:2135. SBF2.
HPAHPA050933.
MIM604563. phenotype.
607697. gene.
neXtProtNX_Q86WG5.
Orphanet99956. Charcot-Marie-Tooth disease type 4B2.
PharmGKBPA26649.
HUGESearch...
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG315534.
HOVERGENHBG052527.
InParanoidQ86WG5.
KOK18061.
OMANRAILDH.
OrthoDBEOG747PKH.
PhylomeDBQ86WG5.
TreeFamTF318583.

Gene expression databases

ArrayExpressQ86WG5.
BgeeQ86WG5.
GenevestigatorQ86WG5.

Family and domain databases

Gene3D2.30.29.30. 2 hits.
InterProIPR005112. dDENN_dom.
IPR001194. DENN_dom.
IPR004182. GRAM.
IPR010569. Myotubularin-like_Pase_dom.
IPR011993. PH_like_dom.
IPR001849. Pleckstrin_homology.
IPR029021. Prot-tyrosine_phosphatase-like.
IPR022096. SBF2.
IPR005113. uDENN_dom.
[Graphical view]
PfamPF03455. dDENN. 1 hit.
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.
[Graphical view]
SMARTSM00801. dDENN. 1 hit.
SM00799. DENN. 1 hit.
SM00568. GRAM. 1 hit.
SM00233. PH. 1 hit.
SM00800. uDENN. 1 hit.
[Graphical view]
SUPFAMSSF52799. SSF52799. 2 hits.
PROSITEPS50947. DDENN. 1 hit.
PS50211. DENN. 1 hit.
PS50003. PH_DOMAIN. 1 hit.
PS51339. PPASE_MYOTUBULARIN. 1 hit.
PS50946. UDENN. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

ChiTaRSSBF2. human.
GeneWikiSBF2.
GenomeRNAi81846.
NextBio72146.
PROQ86WG5.
SOURCESearch...

Entry information

Entry nameMTMRD_HUMAN
AccessionPrimary (citable) accession number: Q86WG5
Secondary accession number(s): Q3MJF0 expand/collapse secondary AC list , Q68DQ3, Q6P459, Q6PJD1, Q7Z325, Q7Z621, Q86VE2, Q96FE2, Q9C097
Entry history
Integrated into UniProtKB/Swiss-Prot: February 7, 2006
Last sequence update: June 1, 2003
Last modified: July 9, 2014
This is version 97 of the entry and version 1 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 11

Human chromosome 11: entries, gene names and cross-references to MIM