• Gene id: 9698

Gene Summary

• Gene Symbol: PUM1   Gene   UCSC   Ensembl
• Aliases: HSPUM, PUMH, PUMH1, PUML1, SCA47
• Gene name: pumilio RNA binding family member 1
• Alternate names: pumilio homolog 1, pumilio-1,
• Gene location: 1p35.2 (51316860: 51016211)     Exons: 18     NC_000007.14
• Gene summary(Entrez): This gene encodes a member of the PUF family, evolutionarily conserved RNA-binding proteins related to the Pumilio proteins of Drosophila and the fem-3 mRNA binding factor proteins of C. elegans. The encoded protein contains a sequence-specific RNA bindin
• OMIM: 607204

Protein Summary

• Protein general information: Q14671  
  • Name: Pumilio homolog 1 (HsPUM) (Pumilio 1)
  • Length: 1186  
  • Mass: 126473
  • Tissue specificity: Expressed in brain, heart, kidney, muscle, intestine and stomach. Not expressed in cerebellum, corpus callosum, caudate nucleus, hippocampus, medulla oblongata and putamen. Expressed in all fetal tissues tested. {ECO
• Sequence:

  MSVACVLKRKAVLWQDSFSPHLKHHPQEPANPNMPVVLTSGTGSQAQPQPAANQALAAGTHSSPVPGSIGVAGRS
  QDDAMVDYFFQRQHGEQLGGGGSGGGGYNNSKHRWPTGDNIHAEHQVRSMDELNHDFQALALEGRAMGEQLLPGK
  KFWETDESSKDGPKGIFLGDQWRDSAWGTSDHSVSQPIMVQRRPGQSFHVNSEVNSVLSPRSESGGLGVSMVEYV
  LSSSPGDSCLRKGGFGPRDADSDENDKGEKKNKGTFDGDKLGDLKEEGDVMDKTNGLPVQNGIDADVKDFSRTPG
  NCQNSANEVDLLGPNQNGSEGLAQLTSTNGAKPVEDFSNMESQSVPLDPMEHVGMEPLQFDYSGTQVPVDSAAAT
  VGLFDYNSQQQLFQRPNALAVQQLTAAQQQQYALAAAHQPHIGLAPAAFVPNPYIISAAPPGTDPYTAGLAAAAT
  LGPAVVPHQYYGVTPWGVYPASLFQQQAAAAAAATNSANQQTTPQAQQGQQQVLRGGASQRPLTPNQNQQGQQTD
  PLVAAAAVNSALAFGQGLAAGMPGYPVLAPAAYYDQTGALVVNAGARNGLGAPVRLVAPAPVIISSSAAQAAVAA
  AAASANGAAGGLAGTTNGPFRPLGTQQPQPQPQQQPNNNLASSSFYGNNSLNSNSQSSSLFSQGSAQPANTSLGF
  GSSSSLGATLGSALGGFGTAVANSNTGSGSRRDSLTGSSDLYKRTSSSLTPIGHSFYNGLSFSSSPGPVGMPLPS
  QGPGHSQTPPPSLSSHGSSSSLNLGGLTNGSGRYISAAPGAEAKYRSASSASSLFSPSSTLFSSSRLRYGMSDVM
  PSGRSRLLEDFRNNRYPNLQLREIAGHIMEFSQDQHGSRFIQLKLERATPAERQLVFNEILQAAYQLMVDVFGNY
  VIQKFFEFGSLEQKLALAERIRGHVLSLALQMYGCRVIQKALEFIPSDQQNEMVRELDGHVLKCVKDQNGNHVVQ
  KCIECVQPQSLQFIIDAFKGQVFALSTHPYGCRVIQRILEHCLPDQTLPILEELHQHTEQLVQDQYGNYVIQHVL
  EHGRPEDKSKIVAEIRGNVLVLSQHKFASNVVEKCVTHASRTERAVLIDEVCTMNDGPHSALYTMMKDQYANYVV
  QKMIDVAEPGQRKIVMHKIRPHIATLRKYTYGKHILAKLEKYYMKNGVDLGPICGPPNGII

• Structural information:
  • Protein Domains: (828..116-)
    (/note="PUM-HD-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00318"-)
  • Interpro: IPR011989  IPR016024  IPR033133  IPR033712  IPR001313  
  • Prosite: PS50302 PS50303
  • CDD: cd07920
  • PDB: 1IB2 1M8W 1M8X 1M8Y 1M8Z 2YJY 3BSB 3BSX 3Q0L 3Q0M 3Q0N 3Q0O 3Q0P 5YKH 5YKI
  • PDBsum: 1IB2 1M8W 1M8X 1M8Y 1M8Z 2YJY 3BSB 3BSX 3Q0L 3Q0M 3Q0N 3Q0O 3Q0P 5YKH 5YKI
  • DIP: 29082
  • STRING: ENSP00000391723
• Other Databases: GeneCards:  PUM1  Malacards:  PUM1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0003730	mRNA 3'-UTR binding	IBA	molecular function
GO:0005737	cytoplasm	IBA	cellular component
GO:0010608	posttranscriptional regulation of gene expression	IBA	biological process
GO:0035196	production of miRNAs involved in gene silencing by miRNA	IBA	biological process
GO:0003729	mRNA binding	IBA	molecular function
GO:0005829	cytosol	IBA	cellular component
GO:0043488	regulation of mRNA stability	IBA	biological process
GO:0035198	miRNA binding	IDA	molecular function
GO:0043488	regulation of mRNA stability	IDA	biological process
GO:0051983	regulation of chromosome segregation	IDA	biological process
GO:0003723	RNA binding	IDA	molecular function
GO:0010494	cytoplasmic stress granule	IDA	cellular component
GO:2000637	positive regulation of gene silencing by miRNA	IDA	biological process
GO:0051726	regulation of cell cycle	IDA	biological process
GO:2000637	positive regulation of gene silencing by miRNA	IDA	biological process
GO:0000932	P-body	IDA	cellular component
GO:1900246	positive regulation of RIG-I signaling pathway	IDA	biological process
GO:0003730	mRNA 3'-UTR binding	IDA	molecular function
GO:0003730	mRNA 3'-UTR binding	IDA	molecular function
GO:0003730	mRNA 3'-UTR binding	IDA	molecular function
GO:0003730	mRNA 3'-UTR binding	IDA	molecular function
GO:0048863	stem cell differentiation	ISS	biological process
GO:0016441	posttranscriptional gene silencing	ISS	biological process
GO:0008344	adult locomotory behavior	ISS	biological process
GO:0007283	spermatogenesis	ISS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0010608	posttranscriptional regulation of gene expression	IMP	biological process
GO:0035196	production of miRNAs involved in gene silencing by miRNA	IMP	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0061157	mRNA destabilization	ISS	biological process
GO:0060964	regulation of gene silencing by miRNA	TAS	biological process
GO:0003723	RNA binding	IEA	molecular function
GO:0006417	regulation of translation	IEA	biological process
GO:0030154	cell differentiation	IEA	biological process
GO:0007283	spermatogenesis	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0003723	RNA binding	IEA	molecular function
GO:0010608	posttranscriptional regulation of gene expression	IDA	biological process
GO:0005829	cytosol	TAS	cellular component
GO:0048863	stem cell differentiation	IEA	biological process
GO:0016441	posttranscriptional gene silencing	IEA	biological process
GO:0008344	adult locomotory behavior	IEA	biological process
GO:0007283	spermatogenesis	IEA	biological process
GO:0061157	mRNA destabilization	IEA	biological process
GO:0010608	posttranscriptional regulation of gene expression	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0003730	mRNA 3'-UTR binding	IEA	molecular function
GO:0000932	P-body	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0005829	cytosol	IDA	cellular component
GO:0003723	RNA binding	HDA	molecular function
GO:0003723	RNA binding	HDA	molecular function

KEGG pathways

Pathway id	Pathway name
hsa05017	Spinocerebellar ataxia

Diseases

Associated diseases	References
Spinocerebellar ataxia	KEGG:H00063
Spinocerebellar ataxia	KEGG:H00063
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)