• Gene id: 55660

Gene Summary

• Gene Symbol: PRPF40A   Gene   UCSC   Ensembl
• Aliases: FBP-11, FBP11, FLAF1, FNBP3, HIP-10, HIP10, HYPA, NY-REN-6, Prp40
• Gene name: pre-mRNA processing factor 40 homolog A
• Alternate names: pre-mRNA-processing factor 40 homolog A, Fas-ligand associated factor 1, Huntingtin-interacting protein A, NY-REN-6 antigen, PRP40 pre-mRNA processing factor 40 homolog A, fas ligand-associated factor 1, formin binding protein 3, formin-binding protein 11, huntin,
• Gene location: 2q23.3 (152718018: 152651592)     Exons: 74     NC_000002.12
• OMIM: 612941

Protein Summary

• Protein general information: O75400  
  • Name: Pre mRNA processing factor 40 homolog A (Fas ligand associated factor 1) (Formin binding protein 11) (Formin binding protein 3) (Huntingtin yeast partner A) (Huntingtin interacting protein 10) (HIP 10) (Huntingtin interacting protein A) (Renal carcinoma a
  • Length: 957  
  • Mass: 108805
  • Tissue specificity: Expressed in the brain cortex (at protein level). Widely expressed. {ECO
• Sequence:

  MRPGTGAERGGLMVSEMESHPPSQGPGDGERRLSGSSLCSGSWVSADGFLRRRPSMGHPGMHYAPMGMHPMGQRA
  NMPPVPHGMMPQMMPPMGGPPMGQMPGMMSSVMPGMMMSHMSQASMQPALPPGVNSMDVAAGTASGAKSMWTEHK
  SPDGRTYYYNTETKQSTWEKPDDLKTPAEQLLSKCPWKEYKSDSGKPYYYNSQTKESRWAKPKELEDLEGYQNTI
  VAGSLITKSNLHAMIKAEESSKQEECTTTSTAPVPTTEIPTTMSTMAAAEAAAAVVAAAAAAAAAAAAANANAST
  SASNTVSGTVPVVPEPEVTSIVATVVDNENTVTISTEEQAQLTSTPAIQDQSVEVSSNTGEETSKQETVADFTPK
  KEEEESQPAKKTYTWNTKEEAKQAFKELLKEKRVPSNASWEQAMKMIINDPRYSALAKLSEKKQAFNAYKVQTEK
  EEKEEARSKYKEAKESFQRFLENHEKMTSTTRYKKAEQMFGEMEVWNAISERDRLEIYEDVLFFLSKKEKEQAKQ
  LRKRNWEALKNILDNMANVTYSTTWSEAQQYLMDNPTFAEDEELQNMDKEDALICFEEHIRALEKEEEEEKQKSL
  LRERRRQRKNRESFQIFLDELHEHGQLHSMSSWMELYPTISSDIRFTNMLGQPGSTALDLFKFYVEDLKARYHDE
  KKIIKDILKDKGFVVEVNTTFEDFVAIISSTKRSTTLDAGNIKLAFNSLLEKAEAREREREKEEARKMKRKESAF
  KSMLKQAAPPIELDAVWEDIRERFVKEPAFEDITLESERKRIFKDFMHVLEHECQHHHSKNKKHSKKSKKHHRKR
  SRSRSGSDSDDDDSHSKKKRQRSESRSASEHSSSAESERSYKKSKKHKKKSKKRRHKSDSPESDAEREKDKKEKD
  RESEKDRTRQRSESKHKSPKKKTGKDSGNWDTSGSELSEGELEKRRRTLLEQLDDDQ

• Structural information:
  • Protein Domains: (140..17-)
    (/note="WW-1)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00224-)
    (181..21-)
    (/note="WW-2)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00224-)
    (393..44-)
    (/note="FF-1)
    (460..51-)
    (/note="FF-2)
    (527..58-)
    (/note="-)
  • Interpro: IPR002713  IPR036517  IPR039726  IPR001202  IPR036020  
  • Prosite: PS51676 PS01159 PS50020
  • CDD: cd00201
  • PDB: 1UZC 1YWI 1YWJ 1ZR7 2CQN 2DYF 2KZG 2L5F 2L9V 2LKS
  • PDBsum: 1UZC 1YWI 1YWJ 1ZR7 2CQN 2DYF 2KZG 2L5F 2L9V 2LKS
  • STRING: ENSP00000386458
• Other Databases: GeneCards:  PRPF40A  Malacards:  PRPF40A

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0000398	mRNA splicing, via spliceosome	IBA	biological process
GO:0003723	RNA binding	IBA	molecular function
GO:0005685	U1 snRNP	IBA	cellular component
GO:0071004	U2-type prespliceosome	IBA	cellular component
GO:0016363	nuclear matrix	IDA	cellular component
GO:0016477	cell migration	IMP	biological process
GO:0008360	regulation of cell shape	IMP	biological process
GO:0007010	cytoskeleton organization	IMP	biological process
GO:0032465	regulation of cytokinesis	IMP	biological process
GO:0045292	mRNA cis splicing, via spliceosome	IEA	biological process
GO:0051301	cell division	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0006397	mRNA processing	IEA	biological process
GO:0007049	cell cycle	IEA	biological process
GO:0008380	RNA splicing	IEA	biological process
GO:0000398	mRNA splicing, via spliceosome	TAS	biological process
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	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:0016363	nuclear matrix	IEA	cellular component
GO:0016607	nuclear speck	IEA	cellular component
GO:0016607	nuclear speck	IDA	cellular component
GO:0005829	cytosol	IDA	cellular component
GO:0016020	membrane	HDA	cellular component
GO:0003723	RNA binding	HDA	molecular function

KEGG pathways

Pathway id	Pathway name
hsa03040	Spliceosome

Diseases

Associated diseases	References
Spermatogenic defects	MIK: 31037746
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)
31037746	Spermatogenic defects			16 (1 control, 15 cases)	Male infertility	GSE6023 analyzed using GEO2R