PACSIN1 (protein kinase C and casein kinase substrate in neurons 1)

2014-11-01  

Identity

HGNC
LOCATION
6p21.31
LOCUSID
ALIAS
SDPI
FUSION GENES

Other Information

Locus ID:

NCBI: 29993
MIM: 606512
HGNC: 8570
Ensembl: ENSG00000124507

Variants:

dbSNP: 29993
ClinVar: 29993
TCGA: ENSG00000124507
COSMIC: PACSIN1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000124507ENST00000244458Q9BY11
ENSG00000124507ENST00000244458Q5TZC3
ENSG00000124507ENST00000374043F6U236
ENSG00000124507ENST00000538621Q9BY11
ENSG00000124507ENST00000538621Q5TZC3
ENSG00000124507ENST00000620693Q9BY11
ENSG00000124507ENST00000620693Q5TZC3

Expression (GTEx)

0
50
100
150
200
250
300
350

Pathways

PathwaySourceExternal ID
Vesicle-mediated transportREACTOMER-HSA-5653656
Membrane TraffickingREACTOMER-HSA-199991
Clathrin-mediated endocytosisREACTOMER-HSA-8856828

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
366223352023De Novo PACSIN1 Gene Variant Found in Childhood Lupus and a Role for PACSIN1/TRAF4 Complex in Toll-like Receptor 7 Activation.2
366223352023De Novo PACSIN1 Gene Variant Found in Childhood Lupus and a Role for PACSIN1/TRAF4 Complex in Toll-like Receptor 7 Activation.2
342900822021Regulation of Synapse Weakening through Interactions of the Microtubule Associated Protein Tau with PACSIN1.4
342900822021Regulation of Synapse Weakening through Interactions of the Microtubule Associated Protein Tau with PACSIN1.4
306838962019Investigation of F-BAR domain PACSIN proteins uncovers membrane tubulation function in cilia assembly and transport.30
316019442019Curvature induction and sensing of the F-BAR protein Pacsin1 on lipid membranes via molecular dynamics simulations.10
306838962019Investigation of F-BAR domain PACSIN proteins uncovers membrane tubulation function in cilia assembly and transport.30
316019442019Curvature induction and sensing of the F-BAR protein Pacsin1 on lipid membranes via molecular dynamics simulations.10
242058262014Identification of novel human kinases that suppress hepatitis C virus infection.1
247515382014ProSAP1 and membrane nanodomain-associated syndapin I promote postsynapse formation and function.24
242058262014Identification of novel human kinases that suppress hepatitis C virus infection.1
247515382014ProSAP1 and membrane nanodomain-associated syndapin I promote postsynapse formation and function.24
238982002013Polyglutamine domain flexibility mediates the proximity between flanking sequences in huntingtin.63
238982002013Polyglutamine domain flexibility mediates the proximity between flanking sequences in huntingtin.63
223551352012Phosphorylation of syndapin I F-BAR domain at two helix-capping motifs regulates membrane tubulation.16

Citation

Dessen P

PACSIN1 (protein kinase C and casein kinase substrate in neurons 1)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/71624/pacsin1-(protein-kinase-c-and-casein-kinase-substrate-in-neurons-1)