Gene Gene information from NCBI Gene database.
Entrez ID 80279
Gene name CDK5 regulatory subunit associated protein 3
Gene symbol CDK5RAP3
Synonyms (NCBI Gene)
C53HSF-27IC53LZAPMST016OK/SW-cl.114PP1553
Chromosome 17
Chromosome location 17q21.32
Summary This gene encodes a protein that has been reported to function in signaling pathways governing transcriptional regulation and cell cycle progression. It may play a role in tumorigenesis and metastasis. A pseudogene of this gene is located on the long arm
miRNA miRNA information provided by mirtarbase database.
12
miRTarBase ID miRNA Experiments Reference
MIRT001561 hsa-miR-155-5p pSILAC 18668040
MIRT001561 hsa-miR-155-5p Proteomics;Other 20584899
MIRT881334 hsa-miR-4794 CLIP-seq
MIRT2197794 hsa-miR-140-3p CLIP-seq
MIRT2197795 hsa-miR-197 CLIP-seq
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
67
GO ID Ontology Definition Evidence Reference
GO:0000079 Process Regulation of cyclin-dependent protein serine/threonine kinase activity ISS
GO:0001889 Process Liver development IEA
GO:0001889 Process Liver development ISS
GO:0001933 Process Negative regulation of protein phosphorylation IMP 17785205
GO:0005515 Function Protein binding IPI 16169070, 16173922, 17785205, 20164180, 20228063, 25416956, 25910212, 31515488, 32296183, 33961781, 37595036
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
608202 18673 ENSG00000108465
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q96JB5
Protein name CDK5 regulatory subunit-associated protein 3 (CDK5 activator-binding protein C53) (LXXLL/leucine-zipper-containing ARF-binding protein) (Protein HSF-27)
Protein function Substrate adapter of E3 ligase complexes mediating ufmylation, the covalent attachment of the ubiquitin-like modifier UFM1 to substrate proteins, and which is involved in various processes, such as ribosome recycling and reticulophagy (also call
PDB 8OHD , 8OJ0 , 8OJ5 , 8QFC
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF05600 DUF773 4 503 CDK5 regulatory subunit-associated protein 3 Family
Tissue specificity TISSUE SPECIFICITY: Ubiquitously expressed (PubMed:10721722, PubMed:12054757). Expressed in heart, brain, placenta, lung, liver, skeletal muscle, kidney and pancreas. Isoform 3 is expressed in kidney, liver, skeletal muscle and placenta (PubMed:12737517).
Sequence
Sequence length 506
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
10
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 ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
ASTROCYTOMA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
BELL'S PALSY GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
EPILEPSY GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
GENERALISED EPILEPSY GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References Evidence Score
Adenocarcinoma of Lung Associate 17549666
★☆☆☆☆
Found in Text Mining only
Breast Neoplasms Associate 31765941
★☆☆☆☆
Found in Text Mining only
Carcinoma Hepatocellular Stimulate 22860085
★☆☆☆☆
Found in Text Mining only
Colorectal Neoplasms Stimulate 15457556
★☆☆☆☆
Found in Text Mining only
Kidney Neoplasms Inhibit 31061682
★☆☆☆☆
Found in Text Mining only
Meningeal Carcinomatosis Associate 17549666
★☆☆☆☆
Found in Text Mining only
Neoplasms Associate 17549666, 22860085, 31765941
★☆☆☆☆
Found in Text Mining only
Neoplasms Inhibit 19223857, 20164180, 21283629, 29540196, 31061682
★☆☆☆☆
Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck Associate 21283629
★☆☆☆☆
Found in Text Mining only
Stomach Neoplasms Associate 29540196
★☆☆☆☆
Found in Text Mining only