PNPLA1 - patatin like phospholipase domain containing 1 Gene

Homo sapiens

Also known as ARCI10; dJ50J22.1

Gene ID: 285848 | Gene type: protein coding

About PNPLA1

Cytogenetic location: 6p21.31 Genomic coordinates (GRCh38): 6:36,243,168-36,313,955 (from NCBI)

This gene has 5 transcripts (splice variants), 128 orthologues, 4 paralogues and is associated with 3 phenotypes. Biased expression in skin (RPKM 6.2), kidney (RPKM 1.5) and 2 other tissues.

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]

PNPLA1 Products(4)

mRNA	Protein	Name
NM_001145716.2	NP_001139188.1	omega-hydroxyceramide transacylase isoform 2
NM_001145717.1	NP_001139189.2	omega-hydroxyceramide transacylase isoform 3
NM_001374623.1	NP_001361552.1	omega-hydroxyceramide transacylase isoform 4
NM_173676.2	NP_775947.2	omega-hydroxyceramide transacylase isoform 1

PNPLA1 Protein Structure

Patatin

0
100
200
300
400
500
532 a.a.

Protein Preferred Names

Protein Names

omega-hydroxyceramide transacylase

patatin-like phospholipase domain-containing protein 1

Related Diseases

Diseases

Alias

Ichthyosis, Congenital, Autosomal Recessive 10

Autosomal Recessive Congenital Ichthyosis 10	ARCI10
Ichthyosis, Congenital, Autosomal Recessive, Type 10

Autosomal Recessive Congenital Ichthyosis

Lamellar Ichthyosis	Congenital Ichthyosiform Erythroderma
Li	Congenital Nonbullous Ichthyosiform Erythroderma
Arci	Congenital Lamellar Ichthyosis
Nonbullous Congenital Ichthyosiform Erythroderma	Cie
Congenital Non-Bullous Ichthyosiform Erythroderma	Erythrodermic Ichthyosis
Nbcie	Ncie
Non-Bullous Congenital Ichthyosiform Erythroderma	Collodion Baby
Ichthyosis, Lamellar	Non Bullous Congenital Ichthyosiform Erythroderma
Ichthyosiform Erythroderma, Brocq Congenital, Nonbullous Form	Ichthyosiform Erythroderma, Congenital, Nonbullous, 1
Collodion Baby Syndrome	Ichthyoses, Lamellar
Nbie	Nonbullous Ichthyosiform Erythroderma
Classic Lamellar Ichthyosis	Ichthyosiform Erythroderma Nonbullous Congenital
Ichthyosiform Erythroderma Congenital	Ichthyosis, Congenital, Autosomal Recessive
Ichthyosiform Erythroderma, Congenital	Collodion Fetus
Non-Bullous Ichthyosiform Erythroderma

Ichthyosis

Ichthyoses	Non-Syndromic Ichthyosis
Congenital Ichthyosis

Skin Disease

Skin Diseases	Genodermatosis
Abnormality Of The Skin	Skin Diseases, Genetic
Skin And Subcutaneous Tissue Disease	Dermatologic Disorders

Trichothiodystrophy 1, Photosensitive

TTD1	Tay Syndrome
Trichothiodystrophy With Congenital Ichthyosis	Photosensitive Trichothiodystrophy
Ibids Syndrome	Ttdp
Ichthyosiform Erythroderma With Hair Abnormality And Mental And Growth Retardation	Ichthyosis, Congenital, With Trichothiodystrophy
Pibids Syndrome	Photosensitive Trichothiodystrophy 1
Trichothiodystrophy, Photosensitive	Sulfur-Deficient Brittle Hair Syndrome
Ttd-P	Ichthyosis With Brittle Hair, Intellectual Impairment, Decreased Fertility And Short Stature
Trichothiodystrophy Photosensitive	Trichothiodystrophy, Type 1
Tricho-Thiodystrophy Disorder	Trichothiodystrophy Syndromes
Amish Brittle Hair Brain Syndrome

Ichthyosis, Congenital, Autosomal Recessive 7

ARCI7

Autosomal Recessive Congenital Ichthyosis 7

Spastic Paraplegia 39, Autosomal Recessive

SPG39	Ntemnd
Hereditary Spastic Paraplegia 39	Nte-Related Motor Neuron Disorder
Autosomal Recessive Spastic Paraplegia Type 39	Spastic Paraplegia Due To Neuropathy Target Esterase Mutation
Spastic Paraplegia Due To Nte Mutation	Spastic Paraplegia 39
Autosomal Recessive Spastic Paraplegia 39	Nte Related Motor Neuron Disorder
Paraplegia, Spastic, Type 39

Ichthyosis, Congenital, Autosomal Recessive 2

Autosomal Recessive Congenital Ichthyosis 2	ARCI2
Ncie1	Ichthyosiform Erythroderma, Congenital
Collodion Baby, Self-Healing	Ichthyosiform Erythroderma, Nonbullous Congenital, 1, Formerly
Ncie1, Formerly	Ichthyosiform Erythroderma, Brocq Congenital, Nonbullous Form, Formerly
Brocq Congenital Ichthyosiform Erythroderma Nonbullous Form	Nonbullous Congenital Ichthyosiform Erythroderma 1
Cie	Ichthyosiform Erythroderma Brocq Congenital Non-Bullous Form
Iecn1	Non-Bullous Congenital Ichthyosiform Erythroderma Type 1
Self-Healing Collodion Baby	Ichthyosis, Congenital, Autosomal Recessive, Type 2
Ichthyosiform Erythroderma, Congenital, Nonbullous, 1

Chanarin-Dorfman Syndrome

Neutral Lipid Storage Disease	CDS
Neutral Lipid Storage Disease With Ichthyosis	Triglyceride Storage Disease With Impaired Long-Chain Fatty Acid Oxidation
Triglyceride Storage Disease With Ichthyosis	Nlsdi
Ichthyotic Neutral Lipid Storage Disease	Dorfman-Chanarin Syndrome
Dcs	Chanarin-Dorfman Disease
Ichthyosiform Erythroderma With Leukocyte Vacuolation	Lipidosis With Triglyceride Storage Disease
Disorder Of Cornification 12	Dorfman Chanarin Syndrome
Neutral Lipid Storage Disease With Ichthyotic	Dorfman-Chanarin Disease

Ichthyosis, Congenital, Autosomal Recessive 4b

Harlequin Ichthyosis	Autosomal Recessive Congenital Ichthyosis 4b
Hi	Harlequin Fetus
ARCI4B	Ichthyosis Congenita, Harlequin Fetus Type
Harlequin Type Ichthyosis	'Harlequin Fetus'
Harlequin Type Ichthyosis Congenita	Harlequin Type Ichthyosis Fetalis
Harlequin Baby Syndrome	Ichthyosis Congenita, Harlequin Type
Ichthyosis Fetalis, Harlequin Type	Ichthyosis Congenita Harlequin Fetus Type
Ichthyosis, Harlequin	Ichthyosis, Congenital, Autosomal Recessive, Type 4b

Ichthyosis, Congenital, Autosomal Recessive 1

Collodion Fetus	Autosomal Recessive Congenital Ichthyosis 1
ARCI1	Ichthyosis Congenita
Lamellar Exfoliation Of Newborn	Desquamation Of Newborn
Ichthyosis Congenita Ii	Shcb
Icr2	Bathing Suit Ichthyosis
Li1	Self-Healing Collodion Baby
Ichthyosis, Congenital, Autosomal Recessive 1, With Bathing Suit Distribution	Collodion Baby, Self-Healing
Ichthyosis, Lamellar, 1, Formerly	Li1, Formerly
Ichthyosis Lamellar 1	Lamellar Ichthyosis, Type 1
Bsi	Autosomal Recessive Congenital Ichthyosis 1 With Bathing Suit Distribution
Autosomal Recessive Congenital Ichthyosis Tgm1-Related	Lamellar Ichthyosis 1
Non-Erythrodermic Ichthyosis	Ichthyosis, Congenital, Autosomal Recessive, Type 1
Congenital Ichthyosis

Ainhum

Dactylolysis Spontanea

Spontaneous Dactylolysis

Ichthyosis, Congenital, Autosomal Recessive 4a

Ichthyosis Congenita Iib	Icr2b
Autosomal Recessive Congenital Ichthyosis 4a	ARCI4A
Lamellar Ichthyosis 2	Li2
Ichthyosis, Lamellar, 2, Formerly	Li2, Formerly
Ichthyosis Lamellar 2	Lamellar Ichthyosis, Type 2
Ichthyosis, Lamellar 2	Ichthyosis, Congenital, Autosomal Recessive, Type 4a

Epidermolytic Hyperkeratosis

Bullous Congenital Ichthyosiform Erythroderma	Bullous Ichthyosiform Erythroderma
EHK	Bullous Erythroderma Ichthyosiformis Congenita Of Brocq
Bcie	Bie
Epidermolytic Ichthyosis	Ichthyosis Bullosa Of Siemens
Superficial Epidermolytic Ichthyosis	Hyperkeratosis, Epidermolytic
Congenital Bullous Ichthyosiform Erythroderma	Bullous Type Ichthyosis
Epidermolytic Palmoplantar Hyperkeratosis	Bullous Ichthyosiform Erythroderma Congenita
Bullous Erythroderma Ichthyosiforme	Sei
Epidermolytic Hyperkeratosis Late-Onset	Epidermolytic Hyperkeratosis, Late-Onset

Ectropion

Ectropion Of Eyelid	Everted Margin
Eversion Of The Eyelid	Eyelashes Turned Out
Eyelid Everted	Eyelid Turned Out
Unspecified Ectropion Of Unspecified Eye

Eyelid Disease

Eyelid Diseases

Eyelid Disorders

Seborrheic Infantile Dermatitis

Cradle Cap	Infantile Seborrhoeic Dermatitis
Seborrhoea Capitis	Seborrhoeic Dermatitis Of Scalp
Seborrhoeic Eczema Of Scalp	Complement 5 Dysfunction
Generalized Seborrheic Dermatitis Of Infants	Infantile Seborrheic Dermatitis
Pityriasis Capitis	Seborrhea Capitis
Seborrhea Sicca	Dandruff
Complement Component 5 Deficiency	Seborrheic Dermatitis
Seborrheic Dermatitis Of Scalp	Scurfiness Of Scalp
Seborrheic Dermatitis Of Infancy	Infantile Seborrhoeic Eczema
Neonatal Seborrhoeic Dermatitis	Infantile Seborrhoeic Dermatitis Of The Scalp

White-Sutton Syndrome

WHSUS	Mrd37
Intellectual Disability-Microcephaly-Strabismus-Behavioral Abnormalities Syndrome	Mental Retardation, Autosomal Dominant 37
Autosomal Dominant Mental Retardation 37	Pogz-Related Intellectual Disability Syndrome

Ichthyosis, X-Linked

X-Linked Ichthyosis	Steroid Sulfatase Deficiency
Placental Steroid Sulfatase Deficiency	Steroid Sulfatase Deficiency Disease
XLI	Sts Deficiency
Ssdd	X-Linked Recessive Ichthyosis
X-Linked Ichthyosis With Steryl-Sulphatase Deficiency	X-Linked Placental Steryl-Sulphatase Deficiency
Ssd	X Linked Ichthyosis
Recessive X-Linked Ichthyosis	Rxli
Syndromic Recessive X-Linked Ichthyosis	Recessive X-Linked Ichthyosis With Extracutaneous Manifestations
Syndromic Rxli	X-Linked Ichthyosis Syndrome
IXL	Ichthyosis X-Linked
Sex-Linked Ichthyosis	X-Linked Ichthyosis With Steryl-Sulfatase Deficiency

Erythrokeratodermia Variabilis Et Progressiva 1

Erythrokeratodermia Variabilis	Erythrokeratodermia Variabilis Et Progressiva
Greither Disease	Ekv
Ekvp	PSEK
Erythrokeratodermia Variabilis With Erythema Gyratum Repens	Keratosis Palmoplantaris Transgrediens Et Progrediens
Transgrediens Et Progrediens Palmoplantar Keratoderma	EKVP1
Erythrokeratodermia, Progressive Symmetric	Erythrokeratodermia Figurata, Congenital Familial, In Plaques
Keratoderma Palmoplantaris Transgrediens	Keratosis Extremitatum Hereditaria Progrediens
Erythrokeratodermia Variabilis, Mendes Da Costa Type	Progressive Symmetric Erythrokeratodermia
Erythrokeratodermia Figurata Variabilis	Greither'S Disease
Ekv-P	Erythrokeratodermia Variabilis Of Mendes Da Costa
Progressive Symmetrical Erythrokeratoderma Of Gottron	Progressive Diffuse Ppk
Progressive Diffuse Palmoplantar Keratoderma	Transgrediens Et Progrediens Ppk
Darier-Gottron Disease	Erythrokeratodermia Progressiva Symmetrica
Progressive Symmetric Erythrokeratodermia, Gottron Type	Congenital Familial Erythrokeratodermia Figurata In Plaques
Erythrokeratodermia Progressive Symmetric	Erythrokeratodermia Variabilis Mendes Da Costa Type

Ichthyosis Vulgaris

Ichthyosis Simplex	Dominant Congenital Ichthyosiform Erythroderma
Common Ichthyosis	Fish Scale Disease
VI	Ichthyoses
Congenital Ichthyosis

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS10790	PNPLA1 Human Pre-designed siRNA Set A		/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Felis catus	PNPLA1	VGNC	VGNC:64263
Macaca mulatta	PNPLA1	VGNC	VGNC:83446
Mus musculus	PNPLA1	MGD	MGI:3617850
Canis familiaris	PNPLA1	VGNC	VGNC:44752
Rattus norvegicus	PNPLA1	RGD	RGD:1306685
Bos taurus	PNPLA1	VGNC	VGNC:33090

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