Gene Gene information from NCBI Gene database.
Entrez ID 8851
Gene name Cyclin dependent kinase 5 regulatory subunit 1
Gene symbol CDK5R1
Synonyms (NCBI Gene)
CDK5P35CDK5RNCK5Ap23p25p35p35nck5a
Chromosome 17
Chromosome location 17q11.2
Summary The protein encoded by this gene (p35) is a neuron-specific activator of cyclin-dependent kinase 5 (CDK5); the activation of CDK5 is required for proper development of the central nervous system. The p35 form of this protein is proteolytically cleaved by
miRNA miRNA information provided by mirtarbase database.
434
miRTarBase ID miRNA Experiments Reference
MIRT029817 hsa-miR-26b-5p Microarray 19088304
MIRT042678 hsa-miR-196b-5p CLASH 23622248
MIRT054108 hsa-miR-1207-5p Microarray 22995316
MIRT250939 hsa-miR-25-3p PAR-CLIP 20371350
MIRT250944 hsa-miR-92b-3p PAR-CLIP 20371350
Transcription factors Transcription factors information provided by TRRUST V2 database.
2
Transcription factor Regulation Reference
EGR1 Activation 15289351
JUN Unknown 22550165
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
96
GO ID Ontology Definition Evidence Reference
GO:0000079 Process Regulation of cyclin-dependent protein serine/threonine kinase activity TAS 7592934
GO:0000226 Process Microtubule cytoskeleton organization TAS 17491008
GO:0000307 Component Cyclin-dependent protein kinase holoenzyme complex IPI 16039528
GO:0001764 Process Neuron migration IEA
GO:0001764 Process Neuron migration ISS
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
603460 1775 ENSG00000176749
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q15078
Protein name Cyclin-dependent kinase 5 activator 1 (CDK5 activator 1) (Cyclin-dependent kinase 5 regulatory subunit 1) (TPKII regulatory subunit) [Cleaved into: Cyclin-dependent kinase 5 activator 1, p35 (p35); Cyclin-dependent kinase 5 activator 1, p25 (p25) (Tau pro
Protein function p35 is a neuron specific activator of CDK5. The complex p35/CDK5 is required for neurite outgrowth and cortical lamination. Involved in dendritic spine morphogenesis by mediating the EFNA1-EPHA4 signaling. Activator of TPKII. The complex p35/CDK
PDB 1H4L , 1UNG , 1UNH , 1UNL , 3O0G , 6LDP , 7CNG , 7VDP , 7VDQ , 7VDR , 7VDS
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF03261 CDK5_activator 106 295 Cyclin-dependent kinase 5 activator protein Family
Tissue specificity TISSUE SPECIFICITY: Brain and neuron specific.
Sequence
Sequence length 307
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Alzheimer disease
Pathways of neurodegeneration - multiple diseases
Cocaine addiction
  CRMPs in Sema3A signaling
Regulation of TP53 Activity through Phosphorylation
Deregulated CDK5 triggers multiple neurodegenerative pathways in Alzheimer's disease models
NGF-stimulated transcription
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
6
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
ALZHEIMERS DISEASE Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
BRAIN DISEASES CTD, Disgenet
CTD, Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CDK5R1-related disorder Benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
COGNITION DISORDERS CTD
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Adenocarcinoma of lung (disorder) Lung adenocarcinoma BEFREE 27880046
★☆☆☆☆
Found in Text Mining only
Adult T-Cell Lymphoma/Leukemia T-Cell Lymphoma/Leukemia BEFREE 2895757
★☆☆☆☆
Found in Text Mining only
Alzheimer Disease Alzheimer disease Pubtator 12230554, 12826674, 20513426, 27343180, 28578378, 29027727, 29997370 Associate
★☆☆☆☆
Found in Text Mining only
Alzheimer Disease Alzheimer disease Pubtator 12860412 Stimulate
★☆☆☆☆
Found in Text Mining only
Alzheimer Disease Alzheimer disease Pubtator 36561735 Inhibit
★☆☆☆☆
Found in Text Mining only
Alzheimer Disease, Early Onset Alzheimer disease BEFREE 15917097
★☆☆☆☆
Found in Text Mining only
Amyloidosis Amyloidosis BEFREE 28912154
★☆☆☆☆
Found in Text Mining only
Amyotrophic Lateral Sclerosis Amyotrophic Lateral Sclerosis BEFREE 12657672, 22262900, 28444573, 29602913
★☆☆☆☆
Found in Text Mining only
ANOPHTHALMIA AND PULMONARY HYPOPLASIA Syndromic microphthalmia BEFREE 21825040
★☆☆☆☆
Found in Text Mining only
Aortic Valve Insufficiency Aortic Valve Insufficiency BEFREE 25241147
★☆☆☆☆
Found in Text Mining only