ZCWPW1 (zinc finger CW-type and PWWP domain containing 1)

Gene

• Entrez ID: 55063
• Gene name: Zinc finger CW-type and PWWP domain containing 1
• Gene symbol: ZCWPW1
• Synonyms (NCBI Gene): ZCW1
• Chromosome: 7
• Chromosome location: 7q22.1

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	26871637
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IDA	20826339
GO:0005634	Component	Nucleus	IEA
GO:0005634	Component	Nucleus	ISS
GO:0005694	Component	Chromosome	IEA
GO:0007127	Process	Meiosis I	ISS
GO:0007129	Process	Homologous chromosome pairing at meiosis	ISS
GO:0007129	Process	Homologous chromosome pairing at meiosis	ISS
GO:0007283	Process	Spermatogenesis	IEA
GO:0007283	Process	Spermatogenesis	ISS
GO:0008270	Function	Zinc ion binding	IEA
GO:0030154	Process	Cell differentiation	IEA
GO:0040029	Process	Epigenetic regulation of gene expression	IDA	20826339
GO:0045911	Process	Positive regulation of DNA recombination	ISS
GO:0046872	Function	Metal ion binding	IEA
GO:0140002	Function	Histone H3K4me3 reader activity	IMP	20826339
GO:0140002	Function	Histone H3K4me3 reader activity	ISS
GO:2000781	Process	Positive regulation of double-strand break repair	ISS

Other IDs

• MIM: 618900
• HGNC: 23486
• e!Ensembl: ENSG00000078487

Protein

• UniProt ID: Q9H0M4
• Protein name: Zinc finger CW-type PWWP domain protein 1
• Protein function: Dual histone methylation reader specific for PRDM9-catalyzed histone marks (H3K4me3 and H3K36me3) (PubMed:20826339, PubMed:32744506). Facilitates the repair of PRDM9-induced meiotic double-strand breaks (DSBs) (By similarity). Essential for male
• PDB: 2E61, 2RR4
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF07496	zf-CW	255 → 302	CW-type Zinc Finger	Domain
  PF00855	PWWP	315 → 413	PWWP domain	Domain

• Tissue specificity: TISSUE SPECIFICITY: Testis. {ECO:0000269|PubMed:32352380, ECO:0000269|PubMed:32744506}.
• Sequence:

  MMTTLQNKEECGKGPKRIFAPPAQKSYSLLPCSPNSPKEETPGISSPETEARISLPKASL
  KKKEEKATMKNVPSREQEKKRKAQINKQAEKKEKEKSSLTNAEFEEIVQIVLQKSLQECL
  GMGSGLDFAETSCAQPVVSTQSDKEPGITASATDTDNANGEEVPHTQEISVSWEGEAAPE
  IRTSKLGQPDPAPSKKKSNRLTLSKRKKEAHEKVEKTQGGHEHRQEDRLKKTVQDHSQIR
  DQQKGEISGFGQCLVWVQCSFPNCGKWRRLCGNIDPSVLPDNWSCDQNTDVQYNRCDIPE
  ETWTGLESDVAYASYIPGSIIWAKQYGYPWWPGMIESDPDLGEYFLFTSHLDSLPSKYHV
  TFFGETVSRAWIPVNMLKNFQELSLELSVMKKRRNDCSQKLGVALMMAQEAEQISIQERV
  NLFGFWSRFNGSNSNGERKDLQLSGLNSPGSCLEKKEKEEELEKEEGEKTDPILPIRKRV
  KIQTQKTKPRGLGGDAGTADGRGRTLQRKIMKRSLGRKSTAPPAPRMGRKEGQGNSDSDQ
  PGPKKKFKAPQSKALAASFSEGKEVRTVPKNLGLSACKGACPSSAKEEPRHREPLTQEAG
  SVPLEDEASSDLDLEQLMEDVGRELGQSGELQHSNSDGEDFPVALFGK

• Sequence length: 648

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
ALZHEIMER DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LATE-ONSET ALZHEIMER'S DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Relationship Type	References	Evidence Score
Alzheimer Disease	Associate	24439028, 24743338, 26004081, 26919393, 27781389, 28199971, 28322283, 28650998, 29181857, 31500627, 31561366, 36411364, 38527854	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lewy Body Disease	Associate	38527854	★☆☆☆☆ Found in Text Mining only
Macular Degeneration	Associate	24439028	★☆☆☆☆ Found in Text Mining only