InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: PNPLA6

Summary

InnateDB Protein

IDBP-368381.5

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

PNPLA6

Protein Name

patatin-like phospholipase domain containing 6

Synonyms

BNHS; iPLA2delta; NTE; NTEMND; SPG39; sws;

Species

Homo sapiens

Ensembl Protein

ENSP00000394348

InnateDB Gene

IDBG-22916 (PNPLA6)

Protein Structure

UniProt Annotation

Function

Phospholipase B that deacylates intracellular phosphatidylcholine (PtdCho), generating glycerophosphocholine (GroPtdCho). This deacylation occurs at both sn-2 and sn-1 positions of PtdCho. Its specific chemical modification by certain organophosphorus (OP) compounds leads to distal axonopathy. {ECO:0000269PubMed:15044461, ECO:0000269PubMed:1666291}.

Subcellular Localization

Endoplasmic reticulum membrane {ECO:0000269PubMed:15044461}; Single-pass type I membrane protein {ECO:0000269PubMed:15044461}; Cytoplasmic side {ECO:0000269PubMed:15044461}. Note=Anchored to the cytoplasmic face of the endoplasmic reticulum by its amino-terminal transmembrane segment.

Disease Associations

Spastic paraplegia 39, autosomal recessive (SPG39) [MIM:612020]: A form of spastic paraplegia, a neurodegenerative disorder characterized by a slow, gradual, progressive weakness and spasticity of the lower limbs. Rate of progression and the severity of symptoms are quite variable. Initial symptoms may include difficulty with balance, weakness and stiffness in the legs, muscle spasms, and dragging the toes when walking. In some forms of the disorder, bladder symptoms (such as incontinence) may appear, or the weakness and stiffness may spread to other parts of the body. SPG39 is associated with a motor axonopathy affecting upper and lower limbs and resulting in progressive wasting of distal upper and lower extremity muscles. {ECO:0000269PubMed:18313024, ECO:0000269PubMed:24355708}. Note=The disease is caused by mutations affecting the gene represented in this entry.Boucher-Neuhauser syndrome (BNHS) [MIM:215470]: An autosomal recessive disorder characterized by spinocerebellar ataxia, hypogonadotropic hypogonadism, and visual impairment due to chorioretinal dystrophy. The age at onset is variable, but most patients develop 1 or more symptoms in the first decade of life. Chorioretinal dystrophy may not always be present. {ECO:0000269PubMed:24355708}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Expressed in brain, placenta, kidney, neuron and skeletal muscle. {ECO:0000269PubMed:9576844}.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 5 experimentally validated interaction(s) in this database.

Experimentally validated
Total	5 [view]
Protein-Protein	4 [view]
Protein-DNA	1 [view]
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Gene Ontology

Molecular Function

Accession	GO Term
GO:0004622	lysophospholipase activity

Biological Process

GO:0006629	lipid metabolic process
GO:0008152	metabolic process
GO:0008219	cell death
GO:0016042	lipid catabolic process
GO:0046470	phosphatidylcholine metabolic process

Cellular Component

GO:0005789	endoplasmic reticulum membrane
GO:0016020	membrane
GO:0016021	integral component of membrane

Protein Structure and Domains

PDB ID

InterPro

IPR000595 Cyclic nucleotide-binding domain
IPR002641 Patatin/Phospholipase A2-related
IPR016035 Acyl transferase/acyl hydrolase/lysophospholipase
IPR018490 Cyclic nucleotide-binding-like

PFAM

PF00027
PF01734

PRINTS

PIRSF

SMART

SM00100

TIGRFAMs

Post-translational Modifications

Modification

Cross-References

SwissProt

Q8IY17