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

Gene Gene information from NCBI Gene database. Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	29763
Gene name	Protein kinase C and casein kinase substrate in neurons 3
Gene symbol	PACSIN3
Synonyms (NCBI Gene)	SDPIII
Chromosome	11
Chromosome location	11p11.2
Summary	This gene is a member of the protein kinase C and casein kinase substrate in neurons family. The encoded protein is involved in linking the actin cytoskeleton with vesicle formation. Alternative splicing results in multiple transcript variants. [provided

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miRTarBase ID	miRNA	Experiments	Reference
MIRT020805	hsa-miR-155-5p	Proteomics	18668040
MIRT022858	hsa-miR-124-3p	Proteomics;Microarray	18668037
MIRT023821	hsa-miR-1-3p	Proteomics	18668040
MIRT030478	hsa-miR-24-3p	Microarray	19748357
MIRT031829	hsa-miR-16-5p	Proteomics	18668040
MIRT1210143	hsa-miR-1197	CLIP-seq
MIRT1210144	hsa-miR-298	CLIP-seq
MIRT1210145	hsa-miR-3154	CLIP-seq
MIRT1210146	hsa-miR-4436a	CLIP-seq
MIRT1210147	hsa-miR-4446-3p	CLIP-seq
MIRT1210148	hsa-miR-4675	CLIP-seq
MIRT1210149	hsa-miR-4741	CLIP-seq
MIRT1210143	hsa-miR-1197	CLIP-seq
MIRT1210150	hsa-miR-1343	CLIP-seq
MIRT1210144	hsa-miR-298	CLIP-seq
MIRT1210151	hsa-miR-3150a-3p	CLIP-seq
MIRT1210145	hsa-miR-3154	CLIP-seq
MIRT1210152	hsa-miR-3175	CLIP-seq
MIRT1210153	hsa-miR-3182	CLIP-seq
MIRT1210154	hsa-miR-320e	CLIP-seq
MIRT1210155	hsa-miR-3678-3p	CLIP-seq
MIRT1210156	hsa-miR-378g	CLIP-seq
MIRT1210157	hsa-miR-4256	CLIP-seq
MIRT1210158	hsa-miR-4269	CLIP-seq
MIRT1210159	hsa-miR-4434	CLIP-seq
MIRT1210146	hsa-miR-4436a	CLIP-seq
MIRT1210160	hsa-miR-4437	CLIP-seq
MIRT1210147	hsa-miR-4446-3p	CLIP-seq
MIRT1210161	hsa-miR-4516	CLIP-seq
MIRT1210162	hsa-miR-4539	CLIP-seq
MIRT1210163	hsa-miR-4645-5p	CLIP-seq
MIRT1210164	hsa-miR-4667-5p	CLIP-seq
MIRT1210165	hsa-miR-4673	CLIP-seq
MIRT1210166	hsa-miR-4674	CLIP-seq
MIRT1210148	hsa-miR-4675	CLIP-seq
MIRT1210167	hsa-miR-4700-5p	CLIP-seq
MIRT1210149	hsa-miR-4741	CLIP-seq
MIRT1210168	hsa-miR-555	CLIP-seq
MIRT1210169	hsa-miR-760	CLIP-seq
MIRT1210170	hsa-miR-939	CLIP-seq
MIRT2288656	hsa-miR-617	CLIP-seq

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GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	10531379, 14679214, 16318909, 16374509, 25036101, 25416956, 28514442, 31515488, 32296183, 33961781, 35271311
GO:0005543	Function	Phospholipid binding	IBA
GO:0005737	Component	Cytoplasm	IBA
GO:0005737	Component	Cytoplasm	IEA
GO:0005737	Component	Cytoplasm	ISS
GO:0005768	Component	Endosome	IBA
GO:0005829	Component	Cytosol	IDA
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IDA
GO:0005886	Component	Plasma membrane	IEA
GO:0006897	Process	Endocytosis	IEA
GO:0007010	Process	Cytoskeleton organization	IBA
GO:0008092	Function	Cytoskeletal protein binding	IEA
GO:0008092	Function	Cytoskeletal protein binding	ISS
GO:0008289	Function	Lipid binding	IDA	23236520
GO:0008289	Function	Lipid binding	IEA
GO:0016020	Component	Membrane	IEA
GO:0019855	Function	Calcium channel inhibitor activity	IEA
GO:0019855	Function	Calcium channel inhibitor activity	ISS
GO:0030100	Process	Regulation of endocytosis	IBA
GO:0042802	Function	Identical protein binding	IPI	32296183
GO:0045806	Process	Negative regulation of endocytosis	IEA
GO:0045806	Process	Negative regulation of endocytosis	ISS
GO:0051044	Process	Positive regulation of membrane protein ectodomain proteolysis	IMP	15280379
GO:0051926	Process	Negative regulation of calcium ion transport	IEA
GO:0051926	Process	Negative regulation of calcium ion transport	ISS
GO:0070062	Component	Extracellular exosome	HDA	19056867, 23533145
GO:0097320	Process	Plasma membrane tubulation	IBA
GO:0097320	Process	Plasma membrane tubulation	IDA	23236520
GO:0097320	Process	Plasma membrane tubulation	IEA

MIM	HGNC	e!Ensembl
606513	8572	ENSG00000165912

Q9UKS6

Protein name

Protein kinase C and casein kinase substrate in neurons protein 3 (SH3 domain-containing protein 6511)

Protein function

Plays a role in endocytosis and regulates internalization of plasma membrane proteins. Overexpression impairs internalization of SLC2A1/GLUT1 and TRPV4 and increases the levels of SLC2A1/GLUT1 and TRPV4 at the cell membrane. Inhibits the TRPV4 c

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00611	FCH	21 → 97	Fes/CIP4, and EFC/F-BAR homology domain	Family
PF14604	SH3_9	370 → 420	Variant SH3 domain	Domain

Tissue specificity

TISSUE SPECIFICITY: Widely expressed, with highest levels in heart and skeletal muscle, intermediate levels in placenta, liver and pancreas, and very low levels in brain, lung and kidney. {ECO:0000269|PubMed:11082044, ECO:0000269|PubMed:11179684}.

Sequence

MAPEEDAGGEALGGSFWEAGNYRRTVQRVEDGHRLCGDLVSCFQERARIEKAYAQQLADW
ARKWRGTVEKGPQYGTLEKAWHAFFTAAERLSALHLEVREKLQGQDSERVRAWQRGAFHR
PVLGGFRESRAAEDGFRKAQKPWLKRLKEVEASKKSYHAARKDEKTAQTRESHAKADSAV
SQEQLRKLQERVERCAKEAEKTKAQYEQTLAELHRYTPRYMEDMEQAFETCQAAERQRLL
FFKDMLLTLHQHLDLSSSEKFHELHRDLHQGIEAASDEEDLRWWRSTHGPGMAMNWPQFE
EWSLDTQRTISRKEKGGRSPDEVTLTSIVPTRDGTAPPPQSPGSPGTGQDEEWSDEESPR
KAATGVRVRALYDYAGQEADELSFRAGEELLKMSEEDEQGWCQGQLQSGRIGLYPANYVE
CVGA

Sequence length

424

Interactions

View interactions

	Reactome
			Clathrin-mediated endocytosis

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 (6)

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.
ATTENTION DEFICIT HYPERACTIVITY DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERTENSION	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MYOPATHY	—	Disgenet, GenCC Disgenet, GenCC	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SUBSTANCE ABUSE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
VENOUS THROMBOEMBOLISM	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

PACSIN3 (protein kinase C and casein kinase substrate in neurons 3)