• Gene id: 7536

Gene Summary

• Gene Symbol: SF1   Gene   UCSC   Ensembl
• Aliases: BBP, D11S636, MBBP, ZCCHC25, ZFM1, ZNF162
• Gene name: splicing factor 1
• Alternate names: splicing factor 1, mammalian branch point-binding protein, transcription factor ZFM1, zinc finger gene in MEN1 locus, zinc finger protein 162,
• Gene location: 11q13.1 (64778843: 64764603)     Exons: 16     NC_000011.10
• Gene summary(Entrez): This gene encodes a nuclear pre-mRNA splicing factor. The encoded protein specifically recognizes the intron branch point sequence at the 3' splice site, together with the large subunit of U2 auxiliary factor (U2AF), and is required for the early stages o
• OMIM: 602220

Protein Summary

• Protein general information: Q15637  
  • Name: Splicing factor 1 (Mammalian branch point binding protein) (BBP) (mBBP) (Transcription factor ZFM1) (Zinc finger gene in MEN1 locus) (Zinc finger protein 162)
  • Length: 639  
  • Mass: 68330
  • Tissue specificity: Detected in lung, ovary, adrenal gland, colon, kidney, muscle, pancreas, thyroid, placenta, brain, liver and heart. {ECO
• Sequence:

  MATGANATPLDFPSKKRKRSRWNQDTMEQKTVIPGMPTVIPPGLTREQERAYIVQLQIEDLTRKLRTGDLGIPPN
  PEDRSPSPEPIYNSEGKRLNTREFRTRKKLEEERHNLITEMVALNPDFKPPADYKPPATRVSDKVMIPQDEYPEI
  NFVGLLIGPRGNTLKNIEKECNAKIMIRGKGSVKEGKVGRKDGQMLPGEDEPLHALVTANTMENVKKAVEQIRNI
  LKQGIETPEDQNDLRKMQLRELARLNGTLREDDNRILRPWQSSETRSITNTTVCTKCGGAGHIASDCKFQRPGDP
  QSAQDKARMDKEYLSLMAELGEAPVPASVGSTSGPATTPLASAPRPAAPANNPPPPSLMSTTQSRPPWMNSGPSE
  SRPYHGMHGGGPGGPGGGPHSFPHPLPSLTGGHGGHPMQHNPNGPPPPWMQPPPPPMNQGPHPPGHHGPPPMDQY
  LGSTPVGSGVYRLHQGKGMMPPPPMGMMPPPPPPPSGQPPPPPSGPLPPWQQQQQQPPPPPPPSSSMASSTPLPW
  QQNTTTTTTSAGTGSIPPWQQQQAAAAASPGAPQMQGNPTMVPLPPGVQPPLPPGAPPPPPPPPPGSAGMMYAPP
  PPPPPPMDPSNFVTMMGMGVAGMPPFGMPPAPPPPPPQN

• Structural information:
  • Protein Domains: (141..22-)
    (/note="KH-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00117"-)
  • Interpro: IPR031150  IPR004087  IPR004088  IPR036612  IPR032570   IPR001878  
  • Prosite: PS50084 PS50158
  • PDB: 1K1G 1O0P 1OPI 2M09 2M0G 4FXW 4FXX
  • PDBsum: 1K1G 1O0P 1OPI 2M09 2M0G 4FXW 4FXX
  • DIP: 29410
  • STRING: ENSP00000366604
• Other Databases: GeneCards:  SF1  Malacards:  SF1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005681	spliceosomal complex	IDA	cellular component
GO:0000389	mRNA 3'-splice site recognition	TAS	biological process
GO:0000398	mRNA splicing, via spliceosome	IC	biological process
GO:0000381	regulation of alternative mRNA splicing, via spliceosome	IBA	biological process
GO:0003729	mRNA binding	IBA	molecular function
GO:0005634	nucleus	IBA	cellular component
GO:0000398	mRNA splicing, via spliceosome	IEA	biological process
GO:0008270	zinc ion binding	IEA	molecular function
GO:0003676	nucleic acid binding	IEA	molecular function
GO:0003723	RNA binding	IEA	molecular function
GO:0045131	pre-mRNA branch point binding	IEA	molecular function
GO:0046872	metal ion binding	IEA	molecular function
GO:0005681	spliceosomal complex	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0003723	RNA binding	IEA	molecular function
GO:0008380	RNA splicing	IEA	biological process
GO:0006397	mRNA processing	IEA	biological process
GO:0003714	transcription corepressor activity	TAS	molecular function
GO:0000398	mRNA splicing, via spliceosome	TAS	biological process
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0042802	identical protein binding	IPI	molecular function
GO:0042802	identical protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0050810	regulation of steroid biosynthetic process	IEA	biological process
GO:0033327	Leydig cell differentiation	IEA	biological process
GO:0030575	nuclear body organization	IEA	biological process
GO:0030238	male sex determination	IEA	biological process
GO:0016604	nuclear body	IEA	cellular component
GO:0003723	RNA binding	IEA	molecular function
GO:0048662	negative regulation of smooth muscle cell proliferation	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:1903507	negative regulation of nucleic acid-templated transcription	IEA	biological process
GO:0003723	RNA binding	HDA	molecular function
GO:0003723	RNA binding	TAS	molecular function
GO:0005840	ribosome	NAS	cellular component
GO:0003723	RNA binding	HDA	molecular function
GO:0005634	nucleus	NAS	cellular component
GO:0000245	spliceosomal complex assembly	NAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881