• Gene id: 22827

Gene Summary

• Gene Symbol: PUF60   Gene   UCSC   Ensembl
• Aliases: FIR, RoBPI, SIAHBP1, VRJS
• Gene name: poly(U) binding splicing factor 60
• Alternate names: poly(U)-binding-splicing factor PUF60, FBP interacting repressor, FUSE-binding protein-interacting repressor, Ro ribonucleoprotein-binding protein 1, Siah binding protein 1, poly(U) binding splicing factor 60KDa, pyrimidine tract binding splicing factor,
• Gene location: 8q24.3 (143829314: 143816343)     Exons: 11     NC_000008.11
• Gene summary(Entrez): This gene encodes a nucleic acid-binding protein that plays a role in a variety of nuclear processes, including pre-mRNA splicing and transcriptional regulation. The encoded protein forms a complex with the far upstream DNA element (FUSE) and FUSE-binding
• OMIM: 604819

Protein Summary

• Protein general information: Q9UHX1  
  • Name: Poly(U) binding splicing factor PUF60 (60 kDa poly(U) binding splicing factor) (FUSE binding protein interacting repressor) (FBP interacting repressor) (Ro binding protein 1) (RoBP1) (Siah binding protein 1) (Siah BP1)
  • Length: 559  
  • Mass: 59875
  • Tissue specificity: Isoform 2 is expressed in colonic epithelium and colorectal epithelium cancer (at protein level). Isoform 6 is expressed in colorectal epithelial cancer but below detection level in colonic epithelium. Expressed in heart, brain, placen
• Sequence:

  MATATIALQVNGQQGGGSEPAAAAAVVAAGDKWKPPQGTDSIKMENGQSTAAKLGLPPLTPEQQEALQKAKKYAM
  EQSIKSVLVKQTIAHQQQQLTNLQMAAVTMGFGDPLSPLQSMAAQRQRALAIMCRVYVGSIYYELGEDTIRQAFA
  PFGPIKSIDMSWDSVTMKHKGFAFVEYEVPEAAQLALEQMNSVMLGGRNIKVGRPSNIGQAQPIIDQLAEEARAF
  NRIYVASVHQDLSDDDIKSVFEAFGKIKSCTLARDPTTGKHKGYGFIEYEKAQSSQDAVSSMNLFDLGGQYLRVG
  KAVTPPMPLLTPATPGGLPPAAAVAAAAATAKITAQEAVAGAAVLGTLGTPGLVSPALTLAQPLGTLPQAVMAAQ
  APGVITGVTPARPPIPVTIPSVGVVNPILASPPTLGLLEPKKEKEEEELFPESERPEMLSEQEHMSISGSSARHM
  VMQKLLRKQESTVMVLRNMVDPKDIDDDLEGEVTEECGKFGAVNRVIIYQEKQGEEEDAEIIVKIFVEFSIASET
  HKAIQALNGRWFAGRKVVAEVYDQERFDNSDLSA

• Structural information:
  • Protein Domains: (129..20-)
    (/note="RRM-1)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00176-)
    (226..30-)
    (/note="RRM-2)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00176-)
    (462..54-)
    (/note="RRM-)
    (-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU0-)
  • Interpro: IPR012677  IPR006532  IPR034209  IPR034211  IPR034212   IPR035979  IPR000504  IPR003954  
  • Prosite: PS50102
  • CDD: cd12370 cd12371 cd12648
  • PDB: 2DNY 2KXF 2KXH 2QFJ 3DXB 3UE2 3US5 3UWT 5KVY 5KW1 5KW6 5KWQ
  • PDBsum: 2DNY 2KXF 2KXH 2QFJ 3DXB 3UE2 3US5 3UWT 5KVY 5KW1 5KW6 5KWQ
  • DIP: 34636
  • STRING: ENSP00000434359
• Other Databases: GeneCards:  PUF60  Malacards:  PUF60

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0006376	mRNA splice site selection	IBA	biological process
GO:0000381	regulation of alternative mRNA splicing, via spliceosome	IBA	biological process
GO:0000380	alternative mRNA splicing, via spliceosome	IBA	biological process
GO:0003676	nucleic acid binding	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0006915	apoptotic process	IEA	biological process
GO:0008380	RNA splicing	IEA	biological process
GO:0003723	RNA binding	IEA	molecular function
GO:0006397	mRNA processing	IEA	biological process
GO:0003677	DNA binding	IEA	molecular function
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:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
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: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:0045296	cadherin binding	HDA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0030054	cell junction	IDA	cellular component
GO:0003723	RNA binding	HDA	molecular function
GO:0003723	RNA binding	HDA	molecular function

KEGG pathways

Pathway id	Pathway name
hsa03040	Spliceosome

Diseases

Associated diseases	References
Verheij syndrome	KEGG:H01800
Verheij syndrome	KEGG:H01800
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
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)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881