Cell atlas - PNPLA1 - The Human Protein Atlas

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PNPLA1

TISSUE

CELL

PATHOLOGY

CELL ATLAS RNA EXPRESSION HUMAN CELLS

GENE/PROTEIN

Antibody validation

Dictionary
	Intermediate filaments

Human cell
	Intermediate Filaments

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GENERAL INFORMATION
Gene name	PNPLA1
Gene description	Patatin-like phospholipase domain containing 1
Protein class	Disease related genes Predicted intracellular proteins
Predicted localization	Intracellular
Number of transcripts	4
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HUMAN PROTEIN ATLAS INFORMATION
Summary	Localized to the intermediate filaments.
RNA cell category	Cell line enriched (U-937)
Protein evidence	Evidence at protein level
Main location	Localized to the Intermediate filaments (uncertain)

DATA RELIABILITY
Reliability score	Uncertain based on 1 antibody. HPA037853
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ASSAYS

RNA EXPRESSION OVERVIEW
RNA cell line category: Cell line enriched (U-937) Organ Origin Category Expression Alphabetical Cell lines sorted after organ of phenotypic resemblance. Cell lines sorted after biological source for establishment. Cell lines sorted after the cell line category according to Cellosaurus. Cell lines sorted on descending RNA expression. Cell lines sorted alphabetically.

HUMAN CELLS

Summary

Localized to the intermediate filaments.

Main location

Intermediate filaments (uncertain)


	Toggle channels	Low High G1 S G2 M N/A

Thumbnail	Antibody	Cell line	Location	Single-cell variation	Cell cycle dependent variation
	HPA037853	U-2 OS	Intermediate filaments

GENE INFORMATION
Gene name	PNPLA1 (HGNC Symbol)
Synonyms	dJ50J22.1, FLJ38755
Description	Patatin-like phospholipase domain containing 1 (HGNC Symbol)
Entrez gene summary	The protein encoded by this gene belongs to the patatin-like phospholipase (PNPLA) family, which is characterized by the presence of a highly conserved patatin domain. PNPLA family members have diverse lipolytic and acyltransferase activities, and are key elements in lipid metabolism. While other members of this family have been well characterized, the function of this gene remained an enigma. However, recent studies show that this gene is expressed in the skin epidermal keratinocytes, and has a role in glycerophospholipid metabolism in the cutaneous barrier. Consistent with these observations, mutations in this gene are associated with ichthyosis in human (autosomal recessive congenital ichthyoses, ARCI) and dog. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2012]
Chromosome	6
Cytoband	p21.31
Chromosome location (bp)	36243203 - 36308595
Protein evidence	Evidence at protein level (all genes)
Ensembl	ENSG00000180316 (version 83.38)
Entrez gene	285848
UniProt	Q8N8W4 (UniProt - Evidence at protein level)
neXtProt	NX_Q8N8W4
Antibodypedia	PNPLA1 antibodies

PROTEIN BROWSER

PNPLA1-001	PNPLA1-002	PNPLA1-003	PNPLA1-004

PROTEIN INFORMATION
Splice variant	UniProt	Protein class	Gene ontology	Length & mass	Signal peptide (predicted)	Transmembrane regions (predicted)
PNPLA1-001 ENSP00000391868 ENST00000457797	A0A0C4DG24 [Direct mapping] Patatin-like phospholipase domain-containing protein 1 Show all	MEMSAT3 predicted membrane proteins SPOCTOPUS predicted membrane proteins THUMBUP predicted membrane proteins Predicted intracellular proteins Show all	GO:0006629 [lipid metabolic process] GO:0008152 [metabolic process] Show all	533 aa 57.9 kDa	No	0
PNPLA1-002 ENSP00000373367 ENST00000388715	Q8N8W4 [Direct mapping] Patatin-like phospholipase domain-containing protein 1 Show all	Predicted intracellular proteins Disease related genes Show all	GO:0005737 [cytoplasm] GO:0008152 [metabolic process] GO:0016042 [lipid catabolic process] GO:0016787 [hydrolase activity] Show all	437 aa 47.8 kDa	No	0
PNPLA1-003 ENSP00000321116 ENST00000312917	Q8N8W4 [Direct mapping] Patatin-like phospholipase domain-containing protein 1 Show all	THUMBUP predicted membrane proteins Predicted intracellular proteins Disease related genes Show all	GO:0005737 [cytoplasm] GO:0008152 [metabolic process] GO:0016042 [lipid catabolic process] GO:0016787 [hydrolase activity] Show all	446 aa 48.9 kDa	No	0
PNPLA1-004 ENSP00000378072 ENST00000394571	Q8N8W4 [Direct mapping] Patatin-like phospholipase domain-containing protein 1 B8XXQ3 [Target identity:100%; Query identity:100%] Patatin-like phospholipase 1 Show all	MEMSAT3 predicted membrane proteins SPOCTOPUS predicted membrane proteins THUMBUP predicted membrane proteins Predicted intracellular proteins Disease related genes Show all	GO:0005737 [cytoplasm] GO:0006629 [lipid metabolic process] GO:0008152 [metabolic process] GO:0016042 [lipid catabolic process] GO:0016787 [hydrolase activity] Show all	532 aa 57.9 kDa	No	0

Contact

contact@proteinatlas.org

The Project

The Human Protein Atlas

The Human Protein Atlas project is funded
by the Knut & Alice Wallenberg foundation.