PNPLA1 (patatin like phospholipase domain containing 1)

2014-08-01 Affiliation

Identity

HGNC

PNPLA1

LOCATION

6p21.31

LOCUSID

285848

ALIAS

ARCI10,dJ50J22.1

FUSION GENES

Show Gene Fusions

Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool

Other Information

Locus ID:

NCBI: 285848
MIM: 612121
HGNC: 21246
Ensembl: ENSG00000180316

Variants:

dbSNP: 285848
ClinVar: 285848
TCGA: ENSG00000180316
COSMIC: PNPLA1

RNA/Proteins

Gene ID	Transcript ID	Uniprot
ENSG00000180316	ENST00000312917	Q8N8W4
ENSG00000180316	ENST00000388715	Q8N8W4
ENSG00000180316	ENST00000394571	Q8N8W4
ENSG00000180316	ENST00000394571	B8XXQ3
ENSG00000180316	ENST00000457797	A0A0C4DG24
ENSG00000180316	ENST00000636260	A0A1B0GW56

Expression (GTEx)

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

References

Pubmed ID	Year	Title	Citations
18414634	2008	Genetic variants associated with arsenic susceptibility: study of purine nucleoside phosphorylase, arsenic (+3) methyltransferase, and glutathione S-transferase omega genes.	24
19390624	2009	Genetic variance in the adiponutrin gene family and childhood obesity.	14
19390624	2009	Genetic variance in the adiponutrin gene family and childhood obesity.	14
30527376	2018	Molecular mechanism of the ichthyosis pathology of Chanarin-Dorfman syndrome: Stimulation of PNPLA1-catalyzed ω-O-acylceramide production by ABHD5.	9
22246504	2012	PNPLA1 mutations cause autosomal recessive congenital ichthyosis in golden retriever dogs and humans.	0
24057234	2013	Identification of human patatin-like phospholipase domain-containing protein 1 and a mutant in human cervical cancer HeLa cells.	0
24344921	2014	Identification of a novel PNPLA1 mutation in a Spanish family with autosomal recessive congenital ichthyosis.	0
26691440	2016	A novel missense variant in the PNPLA1 gene underlies congenital ichthyosis in three consanguineous families.	0
26778108	2016	Whole exome analysis reveals a novel missense PNPLA1 variant that causes autosomal recessive congenital ichthyosis in a Pakistani family.	0
27751867	2017	PNPLA1 Deficiency in Mice and Humans Leads to a Defect in the Synthesis of Omega-O-Acylceramides.	0

Citation

Dessen P

PNPLA1 (patatin like phospholipase domain containing 1)

Atlas Genet Cytogenet Oncol Haematol. 2014-08-01

Online version: http://atlasgeneticsoncology.org/gene/54547/pnpla1-(patatin-like-phospholipase-domain-containing-1)