• Gene id: 9169

Gene Summary

• Gene Symbol: SCAF11   Gene   UCSC   Ensembl
• Aliases: CASP11, SFRS2IP, SIP1, SRRP129, SRSF2IP
• Gene name: SR-related CTD associated factor 11
• Alternate names: protein SCAF11, CTD-associated SR protein 11, SC35-interacting protein 1, SFRS2-interacting protein, SR-related and CTD-associated factor 11, SRSF2-interacting protein, renal carcinoma antigen NY-REN-40, serine/arginine-rich splicing factor 2-interacting protein,
• Gene location: 12q12 (45992039: 45919130)     Exons: 20     NC_000012.12
• OMIM: 603668

Protein Summary

• Protein general information: Q99590  
  • Name: Protein SCAF11 (CTD associated SR protein 11) (Renal carcinoma antigen NY REN 40) (SC35 interacting protein 1) (SR related and CTD associated factor 11) (SRSF2 interacting protein) (Serine/arginine rich splicing factor 2 interacting protein) (Splicing fac
  • Length: 1463  
  • Mass: 164652
  • Tissue specificity: Widely expressed. {ECO
• Sequence:

  MKKKTVCTLNMGDKKYEDMEGEENGDNTISTGLLYSEADRCPICLNCLLEKEVGFPESCNHVFCMTCILKWAETL
  ASCPIDRKPFQAVFKFSALEGYVKVQVKKQLRETKDKKNENSFEKQVSCHENSKSCIRRKAIVREDLLSAKVCDL
  KWIHRNSLYSETGGKKNAAIKINKPQRSNWSTNQCFRNFFSNMFSSVSHSGESSFTYRAYCTEFIEASEISALIR
  QKRHELELSWFPDTLPGIGRIGFIPWNVETEVLPLISSVLPRTIFPTSTISFEHFGTSCKGYALAHTQEGEEKKQ
  TSGTSNTRGSRRKPAMTTPTRRSTRNTRAETASQSQRSPISDNSGCDAPGNSNPSLSVPSSAESEKQTRQAPKRK
  SVRRGRKPPLLKKKLRSSVAAPEKSSSNDSVDEETAESDTSPVLEKEHQPDVDSSNICTVQTHVENQSANCLKSC
  NEQIEESEKHTANYDTEERVGSSSSESCAQDLPVLVGEEGEVKKLENTGIEANVLCLESEISENILEKGGDPLEK
  QDQISGLSQSEVKTDVCTVHLPNDFPTCLTSESKVYQPVSCPLSDLSENVESVVNEEKITESSLVEITEHKDFTL
  KTEELIESPKLESSEGEIIQTVDRQSVKSPEVQLLGHVETEDVEIIATCDTFGNEDFNNIQDSENNLLKNNLLNT
  KLEKSLEEKNESLTEHPRSTELPKTHIEQIQKHFSEDNNEMIPMECDSFCSDQNESEVEPSVNADLKQMNENSVT
  HCSENNMPSSDLADEKVETVSQPSESPKDTIDKTKKPRTRRSRFHSPSTTWSPNKDTPQEKKRPQSPSPRRETGK
  ESRKSQSPSPKNESARGRKKSRSQSPKKDIARERRQSQSRSPKRDTTRESRRSESLSPRRETSRENKRSQPRVKD
  SSPGEKSRSQSRERESDRDGQRRERERRTRKWSRSRSHSRSPSRCRTKSKSSSFGRIDRDSYSPRWKGRWANDGW
  RCPRGNDRYRKNDPEKQNENTRKEKNDIHLDADDPNSADKHRNDCPNWITEKINSGPDPRTRNPEKLKESHWEEN
  RNENSGNSWNKNFGSGWVSNRGRGRGNRGRGTYRSSFAYKDQNENRWQNRKPLSGNSNSSGSESFKFVEQQSYKR
  KSEQEFSFDTPADRSGWTSASSWAVRKTLPADVQNYYSRRGRNSSGPQSGWMKQEEETSGQDSSLKDQTNQQVDG
  SQLPINMMQPQMNVMQQQMNAQHQPMNIFPYPVGVHAPLMNIQRNPFNIHPQLPLHLHTGVPLMQVATPTSVSQG
  LPPPPPPPPPSQQVNYIASQPDGKQLQGIPSSSHVSNNMSTPVLPAPTAAPGNTGMVQGPSSGNTSSSSHSKASN
  AAVKLAESKVSVAVEASADSSKTDKKLQIQEKAAQEVKLAIKPFYQNKDITKEEYKEIVRKAVDKVCHSKSGEVN
  STKVANLVKAYVDKYKYSRKGSQKKTLEEPVSTEKNIG

• Structural information:
  • Interpro: IPR001841  IPR013083  IPR017907  
  • Prosite: PS00518 PS50089
  • STRING: ENSP00000358374
• Other Databases: GeneCards:  SCAF11  Malacards:  SCAF11

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0000245	spliceosomal complex assembly	IBA	biological process
GO:0046872	metal ion binding	IEA	molecular function
GO:0006397	mRNA processing	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0008380	RNA splicing	IEA	biological process
GO:0006397	mRNA processing	TAS	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0016604	nuclear body	IDA	cellular component
GO:0005730	nucleolus	IDA	cellular component
GO:0000245	spliceosomal complex assembly	IDA	biological process
GO:0000375	RNA splicing, via transesterification reactions	IDA	biological process
GO:0008380	RNA splicing	IDA	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0003723	RNA binding	HDA	molecular function
GO:0003723	RNA binding	HDA	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function

Diseases

Associated diseases	References
Hypospermatogenesis	MIK: 28361989
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
28361989	Hypospermatogenesis			6 (3 controls, 3 Klienfelter syndrome	Male infertility	Microarray