Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene miRNA Gene ontology Other IDs Protein Associated diseases
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

Show/Hide all (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
MIRT2197796	hsa-miR-3123	CLIP-seq
MIRT2197797	hsa-miR-3674	CLIP-seq
MIRT2197798	hsa-miR-3925-5p	CLIP-seq
MIRT2197799	hsa-miR-4705	CLIP-seq
MIRT2197800	hsa-miR-4732-5p	CLIP-seq
MIRT2197801	hsa-miR-578	CLIP-seq
MIRT2197802	hsa-miR-643	CLIP-seq

Show/Hide all (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
GO:0005634	Component	Nucleus	IDA	16173922
GO:0005634	Component	Nucleus	IEA
GO:0005730	Component	Nucleolus	IDA	16173922
GO:0005730	Component	Nucleolus	IDA
GO:0005737	Component	Cytoplasm	IDA	15790566, 16173922, 19223857, 20531390
GO:0005737	Component	Cytoplasm	IEA
GO:0005783	Component	Endoplasmic reticulum	IEA
GO:0005789	Component	Endoplasmic reticulum membrane	IDA	36543799, 38383785, 38383789
GO:0005789	Component	Endoplasmic reticulum membrane	IEA
GO:0005813	Component	Centrosome	IDA	19223857
GO:0005813	Component	Centrosome	IEA
GO:0005829	Component	Cytosol	IDA
GO:0005856	Component	Cytoskeleton	IEA
GO:0005874	Component	Microtubule	IDA	23478299
GO:0007095	Process	Mitotic G2 DNA damage checkpoint signaling	IMP	15790566
GO:0007346	Process	Regulation of mitotic cell cycle	IBA
GO:0007420	Process	Brain development	NAS	10915792
GO:0008015	Process	Blood circulation	TAS	1400360
GO:0008283	Process	Cell population proliferation	IDA	12054757
GO:0010921	Process	Regulation of phosphatase activity	IMP	21283629
GO:0012505	Component	Endomembrane system	IBA
GO:0016020	Component	Membrane	HDA	19946888
GO:0016020	Component	Membrane	IEA
GO:0019901	Function	Protein kinase binding	IPI	19223857
GO:0019901	Function	Protein kinase binding	NAS	10721722
GO:0030262	Process	Apoptotic nuclear changes	IMP	23478299
GO:0030332	Function	Cyclin binding	IPI	15790566
GO:0030968	Process	Endoplasmic reticulum unfolded protein response	IMP	23152784
GO:0031398	Process	Positive regulation of protein ubiquitination	IDA	16173922
GO:0032088	Process	Negative regulation of NF-kappaB transcription factor activity	IMP	17785205, 20228063
GO:0032790	Process	Ribosome disassembly	IDA	36517592
GO:0032790	Process	Ribosome disassembly	IDA	38383785, 38383789
GO:0032991	Component	Protein-containing complex	IDA	20531390
GO:0034976	Process	Response to endoplasmic reticulum stress	IEA
GO:0034976	Process	Response to endoplasmic reticulum stress	ISS
GO:0042177	Process	Negative regulation of protein catabolic process	IDA	16173922
GO:0043407	Process	Negative regulation of MAP kinase activity	IMP	21283629
GO:0044387	Process	Negative regulation of protein kinase activity by regulation of protein phosphorylation	IMP	21283629
GO:0044389	Function	Ubiquitin-like protein ligase binding	IDA	20531390
GO:0044389	Function	Ubiquitin-like protein ligase binding	IEA
GO:0044818	Process	Mitotic G2/M transition checkpoint	IMP	19223857
GO:0045664	Process	Regulation of neuron differentiation	NAS	10721722
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IEA
GO:0051019	Function	Mitogen-activated protein kinase binding	IPI	21283629
GO:0051059	Function	NF-kappaB binding	IPI	17785205
GO:0060318	Process	Definitive erythrocyte differentiation	IEA
GO:0060318	Process	Definitive erythrocyte differentiation	ISS
GO:0071569	Process	Protein ufmylation	IDA	23152784
GO:0071569	Process	Protein ufmylation	IDA	36121123, 36543799, 37595036, 38383785, 38383789
GO:0071569	Process	Protein ufmylation	IEA
GO:0071569	Process	Protein ufmylation	IMP	30635284
GO:0071901	Process	Negative regulation of protein serine/threonine kinase activity	IMP	19223857
GO:0072344	Process	Rescue of stalled ribosome	IDA	37595036, 38383785, 38383789
GO:0072344	Process	Rescue of stalled ribosome	IMP	32851973
GO:0097371	Function	MDM2/MDM4 family protein binding	IPI	16173922
GO:0140501	Process	Positive regulation of reticulophagy	IDA	36543799
GO:0140501	Process	Positive regulation of reticulophagy	IMP	32851973
GO:1900182	Process	Positive regulation of protein localization to nucleus	IDA	16173922
GO:1901798	Process	Positive regulation of signal transduction by p53 class mediator	IDA	16173922
GO:1903052	Process	Positive regulation of proteolysis involved in protein catabolic process	IDA	36543799
GO:1990756	Function	Ubiquitin-like ligase-substrate adaptor activity	IDA	36121123, 36543799, 37595036, 38383785, 38383789
GO:2000060	Process	Positive regulation of ubiquitin-dependent protein catabolic process	IDA	16173922

MIM	HGNC	e!Ensembl
608202	18673	ENSG00000108465

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

MEDHQHVPIDIQTSKLLDWLVDRRHCSLKWQSLVLTIREKINAAIQDMPESEEIAQLLSG
SYIHYFHCLRILDLLKGTEASTKNIFGRYSSQRMKDWQEIIALYEKDNTYLVELSSLLVR
NVNYEIPSLKKQIAKCQQLQQEYSRKEEECQAGAAEMREQFYHSCKQYGITGENVRGELL
ALVKDLPSQLAEIGAAAQQSLGEAIDVYQASVGFVCESPTEQVLPMLRFVQKRGNSTVYE
WRTGTEPSVVERPHLEELPEQVAEDAIDWGDFGVEAVSEGTDSGISAEAAGIDWGIFPES
DSKDPGGDGIDWGDDAVALQITVLEAGTQAPEGVARGPDALTLLEYTETRNQFLDELMEL
EIFLAQRAVELSEEADVLSVSQFQLAPAILQGQTKEKMVTMVSVLEDLIGKLTSLQLQHL
FMILASPRYVDRVTEFLQQKLKQSQLLALKKELMVQKQQEALEEQAALEPKLDLLLEKTK
ELQKLIEADISKRYSGRPVNLMGTSL

Sequence length

506

Interactions

View interactions

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)

Show/Hide Unknown Diseases (10)

Phenotype Name	Clinical Significance	Source	Evidence Score
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.
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
METABOLIC SYNDROME	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEOARTHRITIS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEOARTHRITIS, HIP	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROSTATE CANCER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROSTATE CARCINOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (25)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Adenocarcinoma	Adenocarcinoma	LHGDN	17549666		★★★★★ ★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of colon	Adenocarcinoma Of Colon	BEFREE	21394385		★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	31765941	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	22860085	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Colon Carcinoma	Colon Carcinoma	BEFREE	21394385		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colonic Neoplasms	Colonic Neoplasms	LHGDN	16327995		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	21394385		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	15457556	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Congestive heart failure	Congestive Heart Failure	BEFREE	12054757		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes	Diabetes	BEFREE	31829413		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	31829413		★★★★★ ★☆☆☆☆ Found in Text Mining only
Epilepsy, Generalized	Epilepsy	GWASCAT_DG	30531953		★★★★★ ★☆☆☆☆ Found in Text Mining only
Heart failure	Heart Failure	BEFREE	12054757		★★★★★ ★☆☆☆☆ Found in Text Mining only
Kidney Failure, Acute	Kidney Failure	BEFREE	22860085		★★★★★ ★☆☆☆☆ Found in Text Mining only
Kidney Neoplasms	Kidney neoplasm	Pubtator	31061682	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	12737517, 21385901, 22028922, 22860085		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of kidney	Kidney Cancer	BEFREE	31061682		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	27793695, 29540196, 30228783		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	BEFREE	21394385		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	12054757, 21394385, 22028922, 22860085, 23028987, 27793695, 28027003, 30228783, 30864700, 31728130		★★★★★ ★☆☆☆☆ Found in Text Mining only
Renal carcinoma	Renal Carcinoma	BEFREE	31061682		★★★★★ ★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	21283629	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	27793695, 29540196, 30228783		★★★★★ ★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	29540196	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	30228783	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only

CDK5RAP3 (CDK5 regulatory subunit associated protein 3)