PUM3 (pumilio RNA binding family member 3)

Gene

• Entrez ID: 9933
• Gene name: Pumilio RNA binding family member 3
• Gene symbol: PUM3
• Synonyms (NCBI Gene): HA-8, HLA-HA8, KIAA0020, PEN, PUF-A, PUF6, XTP5
• Chromosome: 9
• Chromosome location: 9p24.2

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0003677	Function	DNA binding	IEA
GO:0003723	Function	RNA binding	HDA	22658674, 22681889
GO:0003723	Function	RNA binding	IEA
GO:0003729	Function	MRNA binding	IBA
GO:0005515	Function	Protein binding	IPI	21266351
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	IDA	21266351
GO:0005654	Component	Nucleoplasm	IEA
GO:0005694	Component	Chromosome	IDA	20813266
GO:0005694	Component	Chromosome	IEA
GO:0005730	Component	Nucleolus	IBA
GO:0005730	Component	Nucleolus	IDA	21266351
GO:0005730	Component	Nucleolus	IEA
GO:0005783	Component	Endoplasmic reticulum	IDA	10942595
GO:0006417	Process	Regulation of translation	IBA
GO:0010835	Process	Regulation of protein ADP-ribosylation	IMP	21266351

Other IDs

• MIM: 609960
• HGNC: 29676
• e!Ensembl: ENSG00000080608

Protein

• UniProt ID: Q15397
• Protein name: Pumilio homolog 3 (HBV X-transactivated gene 5 protein) (HBV XAg-transactivated protein 5) (Minor histocompatibility antigen HA-8) (HLA-HA8)
• Protein function: Inhibits the poly(ADP-ribosyl)ation activity of PARP1 and the degradation of PARP1 by CASP3 following genotoxic stress (PubMed:21266351). Binds to double-stranded RNA or DNA without sequence specificity (PubMed:25512524). Involved in development
• PDB: 4WZR, 4WZW
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF08144	CPL	434 → 574	CPL (NUC119) domain	Domain

• Tissue specificity: TISSUE SPECIFICITY: Widely expressed. {ECO:0000269|PubMed:7584026}.
• Sequence:

  MEVKGKKQFTGKSTKTAQEKNRFHKNSDSGSSKTFPTRKVAKEGGPKVTSRNFEKSITKL
  GKKGVKQFKNKQQGDKSPKNKFQPANKFNKKRKFQPDGRSDESAAKKPKWDDFKKKKKEL
  KQSRQLSDKTNYDIVVRAKQMWEILRRKDCDKEKRVKLMSDLQKLIQGKIKTIAFAHDST
  RVIQCYIQYGNEEQRKQAFEELRDDLVELSKAKYSRNIVKKFLMYGSKPQIAEIIRSFKG
  HVRKMLRHAEASAIVEYAYNDKAILEQRNMLTEELYGNTFQLYKSADHRTLDKVLEVQPE
  KLELIMDEMKQILTPMAQKEAVIKHSLVHKVFLDFFTYAPPKLRSEMIEAIREAVVYLAH
  THDGARVAMHCLWHGTPKDRKVIVKTMKTYVEKVANGQYSHLVLLAAFDCIDDTKLVKQI
  IISEIISSLPSIVNDKYGRKVLLYLLSPRDPAHTVREIIEVLQKGDGNAHSKKDTEVRRR
  ELLESISPALLSYLQEHAQEVVLDKSACVLVSDILGSATGDVQPTMNAIASLAATGLHPG
  GKDGELHIAEHPAGHLVLKWLIEQDKKMKENGREGCFAKTLVEHVGMKNLKSWASVNRGA
  IILSSLLQSCDLEVANKVKAALKSLIPTLEKTKSTSKGIEILLEKLST

• 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
Cervical cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colon adenocarcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colorectal cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of urinary bladder	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OBESITY	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Breast Carcinoma	Breast Carcinoma	BEFREE	28678532		★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	34407138	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Insulin-Dependent	Diabetes Mellitus	BEFREE	30464772		★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	BEFREE	28675047		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	28678532		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	30857829		★☆☆☆☆ Found in Text Mining only
Malnutrition	Malnutrition	BEFREE	30319081		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	30735385		★☆☆☆☆ Found in Text Mining only
Retinal Cone Dystrophy 3B	Retinal Cone Dystrophy	CLINVAR_DG	18235024, 21882291, 21911584, 23115240, 23885164		★☆☆☆☆ Found in Text Mining only
Small cell carcinoma of lung	Lung carcinoma	BEFREE	31649014		★☆☆☆☆ Found in Text Mining only