PNPLA1 - patatin like phospholipase domain containing 1 Gene

Also Known as ARCI10; dJ50J22.1

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 285848

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

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables acyltransferase activity, transferring groups other than amino-acyl groups	IMP IMP: Inferred from mutant phenotype	27751867	GOA
enables omega-hydroxyceramide transacylase activity	IDA IDA: Inferred from direct assay	28248318	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in ceramide biosynthetic process	IMP IMP: Inferred from mutant phenotype	27751867	GOA
involved in omega-hydroxyceramide biosynthetic process	IMP IMP: Inferred from mutant phenotype	28248318	GOA

Cellular Component GO Annotation	Evidence	References	Source
located in cytoplasm	IDA IDA: Inferred from direct assay	22246504	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

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

Pre-clinical Phase

Bioactive Molecules (1)

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