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
195498362009Molecular mechanism of membrane constriction and tubulation mediated by the F-BAR protein Pacsin/Syndapin.90
238982002013Polyglutamine domain flexibility mediates the proximity between flanking sequences in huntingtin.41
224883612012PACSIN1 regulates the TLR7/9-mediated type I interferon response in plasmacytoid dendritic cells.14
247515382014ProSAP1 and membrane nanodomain-associated syndapin I promote postsynapse formation and function.13
223551352012Phosphorylation of syndapin I F-BAR domain at two helix-capping motifs regulates membrane tubulation.11
232365202012Versatile membrane deformation potential of activated pacsin.10
186493582008Replication of a genome-wide case-control study of esophageal squamous cell carcinoma.6
306838962019Investigation of F-BAR domain PACSIN proteins uncovers membrane tubulation function in cilia assembly and transport.4
200570762010Crystallization and preliminary X-ray crystallographic analysis of human PACSIN 1 protein.3
242058262014Identification of novel human kinases that suppress hepatitis C virus infection.1

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