• Gene id: 56949

Gene Summary

• Gene Symbol: XAB2   Gene   UCSC   Ensembl
• Aliases: HCNP, HCRN, NTC90, SYF1
• Gene name: XPA binding protein 2
• Alternate names: pre-mRNA-splicing factor SYF1, SYF1 homolog, RNA splicing factor, SYF1 pre-mRNA-splicing factor, crn-related protein kim1,
• Gene location: 19p13.2 (7629552: 7619524)     Exons: 19     NC_000019.10
• OMIM: 610850

Protein Summary

• Protein general information: Q9HCS7  
  • Name: Pre mRNA splicing factor SYF1 (Protein HCNP) (XPA binding protein 2)
  • Length: 855  
  • Mass: 100,010
• Sequence:

  MVVMARLSRPERPDLVFEEEDLPYEEEIMRNQFSVKCWLRYIEFKQGAPKPRLNQLYERALKLLPCSYKLWYRYL
  KARRAQVKHRCVTDPAYEDVNNCHERAFVFMHKMPRLWLDYCQFLMDQGRVTHTRRTFDRALRALPITQHSRIWP
  LYLRFLRSHPLPETAVRGYRRFLKLSPESAEEYIEYLKSSDRLDEAAQRLATVVNDERFVSKAGKSNYQLWHELC
  DLISQNPDKVQSLNVDAIIRGGLTRFTDQLGKLWCSLADYYIRSGHFEKARDVYEEAIRTVMTVRDFTQVFDSYA
  QFEESMIAAKMETASELGREEEDDVDLELRLARFEQLISRRPLLLNSVLLRQNPHHVHEWHKRVALHQGRPREII
  NTYTEAVQTVDPFKATGKPHTLWVAFAKFYEDNGQLDDARVILEKATKVNFKQVDDLASVWCQCGELELRHENYD
  EALRLLRKATALPARRAEYFDGSEPVQNRVYKSLKVWSMLADLEESLGTFQSTKAVYDRILDLRIATPQIVINYA
  MFLEEHKYFEESFKAYERGISLFKWPNVSDIWSTYLTKFIARYGGRKLERARDLFEQALDGCPPKYAKTLYLLYA
  QLEEEWGLARHAMAVYERATRAVEPAQQYDMFNIYIKRAAEIYGVTHTRGIYQKAIEVLSDEHAREMCLRFADME
  CKLGEIDRARAIYSFCSQICDPRTTGAFWQTWKDFEVRHGNEDTIKEMLRIRRSVQATYNTQVNFMASQMLKVSG
  SATGTVSDLAPGQSGMDDMKLLEQRAEQLAAEAERDQPLRAQSKILFVRSDASREELAELAQQVNPEEIQLGEDE
  DEDEMDLEPNEVRLEQQSVPAAVFGSLKED

• Structural information:
  • Interpro: IPR003107  IPR013026  IPR011990  IPR019734  
  • PDB: 5MQF 5XJC
  • PDBsum: 5MQF 5XJC
  • DIP: 31646
  • STRING: ENSP00000351137
• Other Databases: GeneCards:  XAB2  Malacards:  XAB2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0000349	generation of catalytic spliceosome for first transesterification step	IBA	biological process
GO:0000398	mRNA splicing, via spliceosome	IC	biological process
GO:0000974	Prp19 complex	IBA	cellular component
GO:0001824	blastocyst development	IEA	biological process
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:0005634	nucleus	IC	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0006283	transcription-coupled nucleotide-excision repair	IDA	biological process
GO:0006283	transcription-coupled nucleotide-excision repair	TAS	biological process
GO:0006351	transcription, DNA-templated	IDA	biological process
GO:0016020	membrane	IDA	cellular component
GO:0021987	cerebral cortex development	IEA	biological process
GO:0071010	prespliceosome	IBA	cellular component
GO:0071012	catalytic step 1 spliceosome	IBA	cellular component
GO:0071013	catalytic step 2 spliceosome	IDA	cellular component
GO:0071014	post-mRNA release spliceosomal complex	IBA	cellular component
GO:0000349	generation of catalytic spliceosome for first transesterification step	IBA	biological process
GO:0000398	mRNA splicing, via spliceosome	IC	biological process
GO:0000974	Prp19 complex	IBA	cellular component
GO:0001824	blastocyst development	IEA	biological process
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:0005634	nucleus	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005634	nucleus	IC	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005681	spliceosomal complex	IEA	cellular component
GO:0006281	DNA repair	IEA	biological process
GO:0006283	transcription-coupled nucleotide-excision repair	IDA	biological process
GO:0006283	transcription-coupled nucleotide-excision repair	TAS	biological process
GO:0006351	transcription, DNA-templated	IEA	biological process
GO:0006351	transcription, DNA-templated	IDA	biological process
GO:0006396	RNA processing	IEA	biological process
GO:0006397	mRNA processing	IEA	biological process
GO:0006974	cellular response to DNA damage stimulus	IEA	biological process
GO:0008380	RNA splicing	IEA	biological process
GO:0016020	membrane	IDA	cellular component
GO:0021987	cerebral cortex development	IEA	biological process
GO:0071010	prespliceosome	IBA	cellular component
GO:0071012	catalytic step 1 spliceosome	IBA	cellular component
GO:0071013	catalytic step 2 spliceosome	IDA	cellular component
GO:0071014	post-mRNA release spliceosomal complex	IBA	cellular component
GO:0000349	generation of catalytic spliceosome for first transesterification step	IBA	biological process
GO:0000398	mRNA splicing, via spliceosome	IC	biological process
GO:0000974	Prp19 complex	IBA	cellular component
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:0005634	nucleus	IC	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0006283	transcription-coupled nucleotide-excision repair	IDA	biological process
GO:0006283	transcription-coupled nucleotide-excision repair	TAS	biological process
GO:0006351	transcription, DNA-templated	IDA	biological process
GO:0016020	membrane	IDA	cellular component
GO:0071010	prespliceosome	IBA	cellular component
GO:0071012	catalytic step 1 spliceosome	IBA	cellular component
GO:0071013	catalytic step 2 spliceosome	IDA	cellular component
GO:0071014	post-mRNA release spliceosomal complex	IBA	cellular component

Diseases

Associated diseases	References
Multiple sclerosis	GAD: 20522537
Asthenozoospermia	MIK: 23455884
Cryptorchidism	MIK: 28606200
Idiopathic asthenozoospermia	MIK: 23455884

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
23455884	Idiopathic asthenozoospermia				Male infertility	GRP78 lactoferrin SPANXB PGK2 flagellin DJ-1 XPA binding protein 2 CAB2 GPX4 and GAPDH
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq