Gene

pnpla6

ID

ZDB-GENE-050107-4

Name

patatin-like phospholipase domain containing 6

Symbol

pnpla6 Nomenclature History

Previous Names

nte (1)
wu:fy20f06

Type

protein_coding_gene

Location

Chr: 1 Mapping Details/Browsers

Description

Predicted to have lysophospholipase activity. Involved in anterior/posterior axis specification; axonogenesis; and negative regulation of BMP signaling pathway. Predicted to localize to endoplasmic reticulum. Human ortholog(s) of this gene implicated in Boucher-Neuhauser syndrome; Laurence-Moon syndrome; Oliver-McFarlane syndrome; and hereditary spastic paraplegia 39. Orthologous to human PNPLA6 (patatin like phospholipase domain containing 6).

Genome Resources

Note

None

Comparative Information

Expression

All Expression Data

No data available

Cross-Species Comparison

High Throughput Data

Expression Atlas

UO scRNA-seq (UCSC browser)

Single Cell Expression Atlas

Thisse Expression Data

No data available

Wild Type Expression Summary

Phenotype

All Phenotype Data: 4 figures from 2 publications
Cross-Species Comparison: Alliance

Phenotype Summary

Mutations

Mutants

Sequence Targeting Reagents

Human Disease

Associated With pnpla6 Human Ortholog

Disease Ontology Term	Multi-Species Data	OMIM Term	OMIM Phenotype ID
Boucher-Neuhauser syndrome	Alliance	Boucher-Neuhauser syndrome	215470
hereditary spastic paraplegia 39	Alliance	Spastic paraplegia 39, autosomal recessive	612020
Laurence-Moon syndrome	Alliance	?Laurence-Moon syndrome	245800
Oliver-McFarlane syndrome	Alliance	Oliver-McFarlane syndrome	275400

Associated With pnpla6 Via Experimental Models

No data available

Gene Ontology

Protein Domains

Domain, Family, and Site Summary

Type	InterPro ID	Name
Conserved_site	IPR001423	Lysophospholipase patatin, conserved site
Domain	IPR000595	Cyclic nucleotide-binding domain
Domain	IPR002641	Patatin-like phospholipase domain
Homologous_superfamily	IPR014710	RmlC-like jelly roll fold
Homologous_superfamily	IPR016035	Acyl transferase/acyl hydrolase/lysophospholipase
Homologous_superfamily	IPR018490	Cyclic nucleotide-binding domain superfamily

Domain Details Per Protein

Protein	Length	Acyl transferase/acyl hydrolase/lysophospholipase	Cyclic nucleotide-binding domain	Cyclic nucleotide-binding domain superfamily	Lysophospholipase patatin, conserved site	Patatin-like phospholipase domain	RmlC-like jelly roll fold
UniProtKB:A0A8M2B6R2 InterPro	1343
UniProtKB:A0A8M2B788 InterPro	1343
UniProtKB:F1R844 InterPro	1342

Transcripts

Genome Browsers

NCBI

Ensembl

ZFIN

Type	Name	Annotation Method	Length (nt)	Analysis
mRNA	pnpla6-201 (1) Ensembl	Havana	771 nt	Select Tool ZFIN BLAST NCBI BLAST Ensembl UCSC BLAT
mRNA	pnpla6-202 (1) Ensembl	Havana	7644 nt	Select Tool ZFIN BLAST NCBI BLAST Ensembl UCSC BLAT
mRNA	pnpla6-203 (1) Ensembl	Havana	638 nt	Select Tool ZFIN BLAST NCBI BLAST Ensembl UCSC BLAT

Interactions and Pathways

No data available

Antibodies

No data available

Plasmids

No data available

Constructs

Marker Relationships

Sequences

Orthology

Comparative Orthology: Alliance
Gene Tree: Ensembl

Citations