PWP1 (PWP1 homolog, endonuclein)

Gene

• Entrez ID: 11137
• Gene name: PWP1 homolog, endonuclein
• Gene symbol: PWP1
• Synonyms (NCBI Gene): IEF-SSP-9502, NCLB
• Chromosome: 12
• Chromosome location: 12q23.3
• Summary: The protein encoded by this gene contains several WD-40 repeats and is found mostly in the nucleus. The expression and localization of this protein are cell cycle dependent. Expression of this gene is upregulated in pancreatic adenocarcinoma. Three transc

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT001339	hsa-miR-1-3p	pSILAC	18668040
MIRT001339	hsa-miR-1-3p	Proteomics;Other	18668040
MIRT047672	hsa-miR-10a-5p	CLASH	23622248
MIRT040698	hsa-miR-92b-3p	CLASH	23622248
MIRT1278667	hsa-miR-1	CLIP-seq
MIRT1278668	hsa-miR-206	CLIP-seq
MIRT1278669	hsa-miR-223	CLIP-seq
MIRT1278670	hsa-miR-3145-3p	CLIP-seq
MIRT1278671	hsa-miR-3646	CLIP-seq
MIRT1278672	hsa-miR-4697-3p	CLIP-seq
MIRT1278673	hsa-miR-4704-3p	CLIP-seq
MIRT1278674	hsa-miR-4709-3p	CLIP-seq
MIRT1278675	hsa-miR-613	CLIP-seq
MIRT1278667	hsa-miR-1	CLIP-seq
MIRT1278668	hsa-miR-206	CLIP-seq
MIRT2082139	hsa-miR-219-2-3p	CLIP-seq
MIRT1278669	hsa-miR-223	CLIP-seq
MIRT2082140	hsa-miR-2964a-3p	CLIP-seq
MIRT2082141	hsa-miR-335	CLIP-seq
MIRT1278671	hsa-miR-3646	CLIP-seq
MIRT2082142	hsa-miR-3653	CLIP-seq
MIRT2082143	hsa-miR-3658	CLIP-seq
MIRT2082144	hsa-miR-4282	CLIP-seq
MIRT1278672	hsa-miR-4697-3p	CLIP-seq
MIRT1278673	hsa-miR-4704-3p	CLIP-seq
MIRT2082145	hsa-miR-520d-5p	CLIP-seq
MIRT2082146	hsa-miR-524-5p	CLIP-seq
MIRT1278675	hsa-miR-613	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IEA
GO:0005634	Component	Nucleus	TAS	7828893
GO:0005694	Component	Chromosome	IEA
GO:0005730	Component	Nucleolus	IDA	29065309
GO:0005730	Component	Nucleolus	IEA
GO:0005794	Component	Golgi apparatus	IDA
GO:0006325	Process	Chromatin organization	IEA
GO:0006351	Process	DNA-templated transcription	TAS	7828893
GO:0006355	Process	Regulation of DNA-templated transcription	IEA
GO:0006364	Process	RRNA processing	IEA
GO:0042254	Process	Ribosome biogenesis	IEA
GO:0045892	Process	Negative regulation of DNA-templated transcription	IEA
GO:0140713	Function	Histone chaperone activity	IEA
GO:1901838	Process	Positive regulation of transcription of nucleolar large rRNA by RNA polymerase I	IDA	29065309
GO:1990889	Function	Histone H4K20me3 reader activity	IEA
GO:2000738	Process	Positive regulation of stem cell differentiation	IEA

Other IDs

• MIM: 620055
• HGNC: 17015
• e!Ensembl: ENSG00000136045

Protein

• UniProt ID: Q13610
• Protein name: Periodic tryptophan protein 1 homolog (Keratinocyte protein IEF SSP 9502)
• Protein function: Chromatin-associated factor that regulates transcription (PubMed:29065309). Regulates Pol I-mediated rRNA biogenesis and, probably, Pol III-mediated transcription (PubMed:29065309). Regulates the epigenetic status of rDNA (PubMed:29065309). {ECO
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00400	WD40	246 → 285	WD domain, G-beta repeat	Repeat
  PF00400	WD40	375 → 414	WD domain, G-beta repeat	Repeat

• Tissue specificity: TISSUE SPECIFICITY: High levels seen in the placenta, skeletal muscle, kidney and pancreas while lower levels were seen in the heart, brain and lung.
• Sequence:

  MNRSRQVTCVAWVRCGVAKETPDKVELSKEEVKRLIAEAKEKLQEEGGGSDEEETGSPSE
  DGMQSARTQARPREPLEDGDPEDDRTLDDDELAEYDLDKYDEEGDPDAETLGESLLGLTV
  YGSNDQDPYVTLKDTEQYEREDFLIKPSDNLIVCGRAEQDQCNLEVHVYNQEEDSFYVHH
  DILLSAYPLSVEWLNFDPSPDDSTGNYIAVGNMTPVIEVWDLDIVDSLEPVFTLGSKLSK
  KKKKKGKKSSSAEGHTDAVLDLSWNKLIRNVLASASADNTVILWDMSLGKPAASLAVHTD
  KVQTLQFHPFEAQTLISGSYDKSVALYDCRSPDESHRMWRFSGQIERVTWNHFSPCHFLA
  STDDGFVYNLDARSDKPIFTLNAHNDEISGLDLSSQIKGCLVTASADKYVKIWDILGDRP
  SLVHSRDMKMGVLFCSSCCPDLPFIYAFGGQKEGLRVWDISTVSSVNEAFGRRERLVLGS
  ARNSSISGPFGSRSSDTPMES

• Sequence length: 501

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Cervical cancer	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of urinary bladder	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MENTAL OR BEHAVIOURAL DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SUBSTANCE ABUSE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations