• Gene id: 6305

Gene Summary

• Gene Symbol: SBF1   Gene   UCSC   Ensembl
• Aliases: CMT4B3, DENND7A, MTMR5
• Gene name: SET binding factor 1
• Alternate names: myotubularin-related protein 5, DENN/MADD domain containing 7A,
• Gene location: 22q13.33 (50475070: 50444999)     Exons: 42     NC_000022.11
• Gene summary(Entrez): This gene encodes a member of the protein-tyrosine phosphatase family. However, the encoded protein does not appear to be a catalytically active phosphatase because it lacks several amino acids in the catalytic pocket. This protein contains a Guanine nucl
• OMIM: 603560

Protein Summary

• Protein general information: O95248  
  • Name: Myotubularin related protein 5 (SET binding factor 1) (Sbf1)
  • Length: 1868  
  • Mass: 208,443
• Sequence:

  MARLADYFVLVAFGPHPRGSGEGQGQILQRFPEKDWEDNPFPQGIELFCQPSGWQLCPERNPPTFFVAVLTDINS
  ERHYCACLTFWEPAEPSQQETTRVEDATEREEEGDEGGQTHLSPTAPAPSAQLFAPKTLVLVSRLDHTEVFRNSL
  GLIYAIHVEGLNVCLENVIGNLLTCTVPLAGGSQRTISLGAGDRQVIQTPLADSLPVSRCSVALLFRQLGITNVL
  SLFCAALTEHKVLFLSRSYQRLADACRGLLALLFPLRYSFTYVPILPAQLLEVLSTPTPFIIGVNAAFQAETQEL
  LDVIVADLDGGTVTIPECVHIPPLPEPLQSQTHSVLSMVLDPELELADLAFPPPTTSTSSLKMQDKELRAVFLRL
  FAQLLQGYRWCLHVVRIHPEPVIRFHKAAFLGQRGLVEDDFLMKVLEGMAFAGFVSERGVPYRPTDLFDELVAHE
  VARMRADENHPQRVLRHVQELAEQLYKNENPYPAVAMHKVQRPGESSHLRRVPRPFPRLDEGTVQWIVDQAAAKM
  QGAPPAVKAERRTTVPSGPPMTAILERCSGLHVNSARRLEVVRNCISYVFEGKMLEAKKLLPAVLRALKGRAARR
  CLAQELHLHVQQNRAVLDHQQFDFVVRMMNCCLQDCTSLDEHGIAAALLPLVTAFCRKLSPGVTQFAYSCVQEHV
  VWSTPQFWEAMFYGDVQTHIRALYLEPTEDLAPAQEVGEAPSQEDERSALDVASEQRRLWPTLSREKQQELVQKE
  ESTVFSQAIHYANRMSYLLLPLDSSKSRLLRERAGLGDLESASNSLVTNSMAGSVAESYDTESGFEDAETCDVAG
  AVVRFINRFVDKVCTESGVTSDHLKGLHVMVPDIVQMHIETLEAVQRESRRLPPIQKPKLLRPRLLPGEECVLDG
  LRVYLLPDGREEGAGGSAGGPALLPAEGAVFLTTYRVIFTGMPTDPLVGEQVVVRSFPVAALTKEKRISVQTPVD
  QLLQDGLQLRSCTFQLLKMAFDEEVGSDSAELFRKQLHKLRYPPDIRATFAFTLGSAHTPGRPPRVTKDKGPSLR
  TLSRNLVKNAKKTIGRQHVTRKKYNPPSWEHRGQPPPEDQEDEISVSEELEPSTLTPSSALKPSDRMTMSSLVER
  ACCRDYQRLGLGTLSSSLSRAKSEPFRISPVNRMYAICRSYPGLLIVPQSVQDNALQRVSRCYRQNRFPVVCWRS
  GRSKAVLLRSGGLHGKGVVGLFKAQNAPSPGQSQADSSSLEQEKYLQAVVSSMPRYADASGRNTLSGFSSAHMGS
  HGKWGSVRTSGRSSGLGTDVGSRLAGRDALAPPQANGGPPDPGFLRPQRAALYILGDKAQLKGVRSDPLQQWELV
  PIEVFEARQVKASFKKLLKACVPGCPAAEPSPASFLRSLEDSEWLIQIHKLLQVSVLVVELLDSGSSVLVGLEDG
  WDITTQVVSLVQLLSDPFYRTLEGFRLLVEKEWLSFGHRFSHRGAHTLAGQSSGFTPVFLQFLDCVHQVHLQFPM
  EFEFSQFYLKFLGYHHVSRRFRTFLLDSDYERIELGLLYEEKGERRGQVPCRSVWEYVDRLSKRTPVFHNYMYAP
  EDAEVLRPYSNVSNLKVWDFYTEETLAEGPPYDWELAQGPPEPPEEERSDGGAPQSRRRVVWPCYDSCPRAQPDA
  ISRLLEELQRLETELGQPAERWKDTWDRVKAAQRLEGRPDGRGTPSSLLVSTAPHHRRSLGVYLQEGPVGSTLSL
  SLDSDQSSGSTTSGSRQAARRSTSTLYSQFQTAESENRSYEGTLYKKGAFMKPWKARWFVLDKTKHQLRYYDHRV
  DTECKGVIDLAEVEAVAPGTPTMGAPKTVDEKAFFDVKTTRRVYNFCAQDVPSAQQWVDRIQSCLSDA

• Structural information:
  • Protein Domains: uDENN. (7-185)
    cDENN. (204-337)
    dDENN. (339-440)
    GRAM (881-969)
    Myotubularin (1121-1597)
  • Interpro: IPR001194  IPR005112  IPR004182  IPR030574  IPR010569   IPR030564  IPR011993  IPR001849  IPR029021  IPR022096  IPR037516  IPR005113  
  • Prosite: PS50211 PS50003 PS51339
  • STRING: ENSP00000370196
• Other Databases: GeneCards:  SBF1  Malacards:  SBF1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005634	nucleus	IEA	cellular component
GO:0006470	protein dephosphorylation	TAS	biological process
GO:0007283	spermatogenesis	IEA	biological process
GO:0008138	protein tyrosine/serine/threonine phosphatase activity	TAS	molecular function
GO:0016021	integral component of membrane	TAS	cellular component
GO:0017112	Rab guanyl-nucleotide exchange factor activity	IDA	molecular function
GO:0019208	phosphatase regulator activity	IEA	molecular function
GO:0043547	positive regulation of GTPase activity	IEA	biological process
GO:0005085	guanyl-nucleotide exchange factor activity	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0006470	protein dephosphorylation	TAS	biological process
GO:0007283	spermatogenesis	IEA	biological process
GO:0008138	protein tyrosine/serine/threonine phosphatase activity	TAS	molecular function
GO:0016021	integral component of membrane	TAS	cellular component
GO:0017112	Rab guanyl-nucleotide exchange factor activity	IDA	molecular function
GO:0019208	phosphatase regulator activity	IEA	molecular function
GO:0043087	regulation of GTPase activity	IEA	biological process
GO:0043547	positive regulation of GTPase activity	IEA	biological process
GO:0006470	protein dephosphorylation	TAS	biological process
GO:0008138	protein tyrosine/serine/threonine phosphatase activity	TAS	molecular function
GO:0016021	integral component of membrane	TAS	cellular component
GO:0017112	Rab guanyl-nucleotide exchange factor activity	IDA	molecular function

Diseases

Associated diseases	References
Apoplexy	GAD: 20198315
Hypertension	GAD: 19851296
Charcot-Marie-Tooth disease	KEGG: H00264
Azoospermia	GAD: 19369647
Male factor infertility	MIK: 19369647
Cryptorchidism	MIK: 28606200
Male infertility	MIK: 19369647
Spermatogenic defects	MIK: 31037746
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
19369647	Male infertility	SBF1 (T5A, F75L, E335K, K486E, R1059K, A1119V, L1693V), LIMK2 (G35S, D45N, R213C, P296R, R418C), LIPE(Y100H, Q127H, P146S, S177T, A194V, R217Q, R217L, K497N, N499H, R611C, G742R, R938S), TBPL1 (V44A, T72K, F179L)		78 infertile men	Male infertility	SBF1 LIMK2 LIPE TBPL1
27335132	Male infertility				Male infertility
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
31037746	Spermatogenic defects			16 (1 control, 15 cases)	Male infertility	GSE6023 analyzed using GEO2R