PLB1 (phospholipase B1)

2018-02-01  

Identity

HGNC
PLB1
LOCATION
2p23.2
LOCUSID
151056
ALIAS
PLB,PLB/LIP
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 151056
MIM: 610179
HGNC: 30041
Ensembl: ENSG00000163803

Variants:

dbSNP: 151056
ClinVar: 151056
TCGA: ENSG00000163803
COSMIC: PLB1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000163803ENST00000327757Q6P1J6
ENSG00000163803ENST00000404858H7BYX7
ENSG00000163803ENST00000411743H7C2A5
ENSG00000163803ENST00000416713C9JYQ2
ENSG00000163803ENST00000422425Q6P1J6
ENSG00000163803ENST00000436544H7C012
ENSG00000163803ENST00000436775H7C1D3
ENSG00000163803ENST00000444257H7BZW4

Expression (GTEx)

0
5
10
15
20
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Pathways

PathwaySourceExternal ID
Glycerophospholipid metabolismKEGGko00564
Ether lipid metabolismKEGGko00565
Arachidonic acid metabolismKEGGko00590
Linoleic acid metabolismKEGGko00591
alpha-Linolenic acid metabolismKEGGko00592
Glycerophospholipid metabolismKEGGhsa00564
Ether lipid metabolismKEGGhsa00565
Arachidonic acid metabolismKEGGhsa00590
Linoleic acid metabolismKEGGhsa00591
alpha-Linolenic acid metabolismKEGGhsa00592
Metabolic pathwaysKEGGhsa01100
Vitamin digestion and absorptionKEGGko04977
Vitamin digestion and absorptionKEGGhsa04977
Signal TransductionREACTOMER-HSA-162582
Visual phototransductionREACTOMER-HSA-2187338
Retinoid metabolism and transportREACTOMER-HSA-975634
MetabolismREACTOMER-HSA-1430728
Metabolism of lipids and lipoproteinsREACTOMER-HSA-556833
Phospholipid metabolismREACTOMER-HSA-1483257
Glycerophospholipid biosynthesisREACTOMER-HSA-1483206
Acyl chain remodelling of PCREACTOMER-HSA-1482788
Metabolism of vitamins and cofactorsREACTOMER-HSA-196854
Metabolism of fat-soluble vitaminsREACTOMER-HSA-6806667

PharmGKB

Entity IDNameTypeEvidenceAssociationPKPDPMIDs
PA443434Arthritis, RheumatoidDiseaseMultilinkAnnotationassociated24520335

References

Pubmed IDYearTitleCitations
281045362017Exome-Wide Association Study Identifies Low-Frequency Coding Variants in 2p23.2 and 7p11.2 Associated with Survival of Non-Small Cell Lung Cancer Patients.6
281045362017Exome-Wide Association Study Identifies Low-Frequency Coding Variants in 2p23.2 and 7p11.2 Associated with Survival of Non-Small Cell Lung Cancer Patients.6
245203352014Integration of sequence data from a Consanguineous family with genetic data from an outbred population identifies PLB1 as a candidate rheumatoid arthritis risk gene.14
245203352014Integration of sequence data from a Consanguineous family with genetic data from an outbred population identifies PLB1 as a candidate rheumatoid arthritis risk gene.14
121509572002Human epidermis is a novel site of phospholipase B expression.9
121509572002Human epidermis is a novel site of phospholipase B expression.9

Citation

Dessen P

PLB1 (phospholipase B1)

Atlas Genet Cytogenet Oncol Haematol. 2018-02-01

Online version: http://atlasgeneticsoncology.org/gene/57357/gene-fusions/gene-explorer/