PUM3 (pumilio RNA binding family member 3)

Gene
Gene Gene ontology Other IDs Protein Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
9933
Gene name Gene Name - the full gene name approved by the HGNC.
Pumilio RNA binding family member 3
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
PUM3
Synonyms (NCBI Gene) Gene synonyms aliases
HA-8, HLA-HA8, KIAA0020, PEN, PUF-A, PUF6, XTP5
Chromosome Chromosome number
9
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
9p24.2
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene Gene ontology Other IDs Protein Associated diseases
Show/Hide all(11)
GO ID Ontology Definition Evidence Reference
GO:0003677 Function DNA binding IEA
GO:0003723 Function RNA binding HDA 22658674, 22681889
GO:0003729 Function MRNA binding IBA 21873635
GO:0005515 Function Protein binding IPI 21266351
GO:0005654 Component Nucleoplasm IDA 21266351
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
609960 29676 ENSG00000080608
Protein
Gene Gene ontology Other IDs Protein Associated diseases
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
Interactions View interactions
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Gene Gene ontology Other IDs Protein Associated diseases
Show/Hide Causal Diseases (1)
Causal
Disease term Disease name dbSNP ID References
Retinal cone dystrophy Retinal Cone Dystrophy 3B rs200311463 23885164, 21911584, 21882291, 23115240, 18235024
Show/Hide Text Mining Associations (2)
Associations from Text Mining
Disease Name Relationship Type References
Carcinogenesis Associate 34407138
Neoplasms Associate 34407138