mutLBSgeneDB |
Gene summary for PACSIN1 |
Gene summary |
Basic gene Info. | Gene symbol | PACSIN1 |
Gene name | protein kinase C and casein kinase substrate in neurons 1 | |
Synonyms | SDPI | |
Cytomap | UCSC genome browser: 6p21.3 | |
Type of gene | protein-coding | |
RefGenes | NM_001199583.2, NM_020804.4, | |
Description | protein kinase C and casein kinase substrate in neurons protein 1syndapin 1syndapin Isyndapin-1 | |
Modification date | 20141207 | |
dbXrefs | MIM : 606512 | |
HGNC : HGNC | ||
Ensembl : ENSG00000124507 | ||
HPRD : 05936 | ||
Vega : OTTHUMG00000014547 | ||
Protein | UniProt: Q9BY11 go to UniProt's Cross Reference DB Table | |
Expression | CleanEX: HS_PACSIN1 | |
BioGPS: 29993 | ||
Pathway | NCI Pathway Interaction Database: PACSIN1 | |
KEGG: PACSIN1 | ||
REACTOME: PACSIN1 | ||
Pathway Commons: PACSIN1 | ||
Context | iHOP: PACSIN1 | |
ligand binding site mutation search in PubMed: PACSIN1 | ||
UCL Cancer Institute: PACSIN1 | ||
Assigned class in mutLBSgeneDB | C: This gene just belongs to mutLBSgenes. |
Gene ontology having evidence of Inferred from Direct Assay (IDA) from Entrez |
GO ID | GO Term | PubMed ID | GO:0097320 | membrane tubulation | 19549836 |
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Ligand binding site mutations for PACSIN1 |
Cancer type specific mutLBS sorted by frequency |
LBS | AAchange of nsSNV | Cancer type | # samples | P75 | P75Q | LUAD | 1 |
cf) Cancer type abbreviation. BLCA: Bladder urothelial carcinoma, BRCA: Breast invasive carcinoma, CESC: Cervical squamous cell carcinoma and endocervical adenocarcinoma, COAD: Colon adenocarcinoma, GBM: Glioblastoma multiforme, LGG: Brain lower grade glioma, HNSC: Head and neck squamous cell carcinoma, KICH: Kidney chromophobe, KIRC: Kidney renal clear cell carcinoma, KIRP: Kidney renal papillary cell carcinoma, LAML: Acute myeloid leukemia, LUAD: Lung adenocarcinoma, LUSC: Lung squamous cell carcinoma, OV: Ovarian serous cystadenocarcinoma, PAAD: Pancreatic adenocarcinoma, PRAD: Prostate adenocarcinoma, SKCM: Skin cutaneous melanoma, STAD: Stomach adenocarcinoma, THCA: Thyroid carcinoma, UCEC: Uterine corpus endometrial carcinoma. |
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Protein structure related information for PACSIN1 |
Relative protein structure stability change (ΔΔE) using Mupro 1.1 Mupro score denotes assessment of the effect of mutations on thermodynamic stability. (ΔΔE<0: mutation decreases stability, ΔΔE>0: mutation increases stability) |
: nsSNV at non-LBS: nsSNV at LBS |
nsSNVs sorted by the relative stability change of protein structure by each mutation Blue: mutations of positive stability change. and red : the most recurrent mutation for this gene. |
LBS | AAchange of nsSNV | Relative stability change | P75 | P75Q | -0.9033563 |
(MuPro1.1: Jianlin Cheng et al., Prediction of Protein Stability Changes for Single-Site Mutations Using Support Vector Machines, PROTEINS: Structure, Function, and Bioinformatics. 2006, 62:1125-1132) |
Structure image for PACSIN1 from PDB |
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Differential gene expression and gene-gene network for PACSIN1 |
Differential gene expression between mutated and non-mutated LBS samples in all 16 major cancer types |
Differential co-expressed gene network based on protein-protein interaction data (CePIN) |
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Phenotype information for PACSIN1 |
Gene level disease information (DisGeNet) |
Disease ID | Disease name | # PubMed | Association type |
Mutation level pathogenic information (ClinVar annotation) |
Allele ID | AA change | Clinical significance | Origin | Phenotype IDs |
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Pharmacological information for PACSIN1 |
Drug information targeting mutLBSgene (Approved drugs only) |
Drug status | DrugBank ID | Name | Type | Drug structure |
Gene-centered ligand-gene interaction network |
Ligands binding to mutated ligand binding site of PACSIN1 go to BioLip |
Ligand ID | Ligand short name | Ligand long name | PDB ID | PDB name | mutLBS | CA | CALCIUM(2+) | 3q84 | M | P75 | CA | CALCIUM(2+) | 3q84 | N | P75 | CA | CALCIUM(2+) | 3qni | A | P75 |
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Conservation information for LBS of PACSIN1 |
Multiple alignments for Q9BY11 in multiple species |
LBS | AA sequence | # species | Species | E72 | WRQLIEKGPQY | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | E72 | WRQLVERGPQY | 1 | Danio rerio | E72 | WRQLLEKGPQY | 1 | Bos taurus | E81 | QYGSLERAWGA | 4 | Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus | E81 | QYGTLERAWLA | 1 | Danio rerio | G74 | QLIEKGPQYGS | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | G74 | QLVERGPQYGT | 1 | Danio rerio | G74 | QLLEKGPQYGS | 1 | Bos taurus | I71 | RWRQLIEKGPQ | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | I71 | RWRQLVERGPQ | 1 | Danio rerio | I71 | RWRQLLEKGPQ | 1 | Bos taurus | P75 | LIEKGPQYGSL | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | P75 | LVERGPQYGTL | 1 | Danio rerio | P75 | LLEKGPQYGSL | 1 | Bos taurus | Q76 | IEKGPQYGSLE | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | Q76 | VERGPQYGTLE | 1 | Danio rerio | Q76 | LEKGPQYGSLE | 1 | Bos taurus | Y77 | EKGPQYGSLER | 4 | Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus | Y77 | ERGPQYGTLER | 1 | Danio rerio |
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