Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
285848
Gene name Gene Name - the full gene name approved by the HGNC.
Patatin like domain 1, omega-hydroxyceramide transacylase
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
PNPLA1
Synonyms (NCBI Gene) Gene synonyms aliases
ARCI10, dJ50J22.1
Disease Acronyms (UniProt) Disease acronyms from UniProt database
ARCI10
Chromosome Chromosome number
6
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
6p21.31
Summary Summary of gene provided in NCBI Entrez Gene.
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
SNPs SNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs140585347 C>T Conflicting-interpretations-of-pathogenicity Missense variant, upstream transcript variant, coding sequence variant, genic upstream transcript variant
rs200806519 C>A,T Pathogenic Genic upstream transcript variant, coding sequence variant, upstream transcript variant, synonymous variant, missense variant
rs369445146 C>A Pathogenic, likely-pathogenic Genic upstream transcript variant, missense variant, coding sequence variant, upstream transcript variant
rs371307766 C>G,T Likely-pathogenic Genic upstream transcript variant, missense variant, coding sequence variant, upstream transcript variant
rs373148099 G>A Pathogenic Missense variant, coding sequence variant, 5 prime UTR variant
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT1245377 hsa-miR-1266 CLIP-seq
MIRT1245378 hsa-miR-1273f CLIP-seq
MIRT1245379 hsa-miR-197 CLIP-seq
MIRT1245380 hsa-miR-24 CLIP-seq
MIRT1245381 hsa-miR-2467-5p CLIP-seq
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0004806 Function Triglyceride lipase activity IBA 21873635
GO:0005737 Component Cytoplasm IBA 21873635
GO:0005737 Component Cytoplasm IDA 22246504
GO:0005811 Component Lipid droplet IBA 21873635
GO:0016020 Component Membrane IBA 21873635
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
612121 21246 ENSG00000180316
Protein
UniProt ID Q8N8W4
Protein name Omega-hydroxyceramide transacylase (EC 2.3.1.296) (Patatin-like phospholipase domain-containing protein 1)
Protein function Omega-hydroxyceramide transacylase involved in the synthesis of omega-O-acylceramides (esterified omega-hydroxyacyl-sphingosine; EOS), which are extremely hydrophobic lipids involved in skin barrier formation (PubMed:27751867, PubMed:28248318).
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF01734 Patatin 16 84 Patatin-like phospholipase Family
Tissue specificity TISSUE SPECIFICITY: Expressed in the digestive system. Expressed in the epidermis of skin keratinocytes. Strongly expressed in the granular layer. Expressed in the upper epidermis and eccrine sweat glands of the dermis and in the region of keratin filamen
Sequence
MEEQVFKGDPDTPHSISFSGSGFLSFYQAGAVDALRDLAPRMLETAHRFAGTSAGAVIAA
LAICGIEMDEYLRVLNVGVAEVKK
SFLGPLSPSCKMVQMMRQFLYRVLPEDSYKVTTGKL
HVSLTRLTDGENVVVSEFTSKEELIEALYCSCFVPVYCGLIPPTYRGVRYIDGGFTGMQP
CAFWTDAITISTFSGQQDICPRDCPAIFHDFRMFNCSFQFSLENIARMTHALFPPDLVIL
HDYYYRGYEDAVLYLRRLNAVYLNSSSKRVIFPRVEVYCQIELALGNECPERSQPSLRAR
QASLEGATQPHKEWVPKGDGRGSHGPPVSQPVQTLEFTCESPVSAPVSPLEQPPAQPLAS
STPLSLSGMPPVSFPAVHKPPSSTPGSSLPTPPPGLSPLSPQQQVQPSGSPARSLHSQAP
TSPRPSLGPSTVGAPQTLPRSSLSAFPAQPPVEELGQEQPQAVALLVSSKPKSAVPLVHV
KETVSKPYVTESPAEDSNWVNKVFKKNKQKTSGTRKGFPRHSGSKKPSSKVQ
Sequence length 532
Interactions View interactions
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Congenital ichthyosis Congenital ichthyosis rs118203935, rs118203936, rs118203937, rs199422216, rs199422217, rs1561831582, rs28940268, rs28940269, rs28940568, rs28940270, rs387906284, rs387906285, rs137853289, rs267606622, rs121434232
View all (226 more)
Ichthyosis Ichthyoses rs199766569, rs587776996, rs587777262, rs863223405, rs370031870, rs1569044747, rs200806519 22246504
Ichthyosis with hypotrichosis ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 10 rs1114167426, rs1114167425, rs1114167424, rs762765702, rs530109812, rs774363396, rs760309815, rs140526640, rs1303127476 26778108, 22246504, 28369476
Keratitis Keratitis rs587776571
Unknown
Disease term Disease name Evidence References Source
Congenital Ichthyosis autosomal recessive congenital ichthyosis 10 GenCC
Congenital Nonbullous Ichthyosiform Erythroderma congenital non-bullous ichthyosiform erythroderma GenCC
Associations from Text Mining
Disease Name Relationship Type References
Esophageal Squamous Cell Carcinoma Associate 35789548
Hypoxia Associate 35789548
Ichthyosiform Erythroderma Congenital Associate 27025581
Ichthyosis Associate 27025581, 28248318
Lamellar ichthyosis type 3 Associate 27025581, 27884779, 29624231, 30978464, 31120544, 31833240, 36980989
Obesity Associate 19390624