PNPLA1
entrez
285848
canonical
uniprot
Q8N8W4
canonical
ensembl
ENSG00000180316
resolver
ensp
ENSP00000321116
resolver
ensp
ENSP00000373367
resolver
ensp
ENSP00000378072
resolver
ensp
ENSP00000490785
resolver
enst
ENST00000636260
resolver
genesymbol
PNPLA1
resolver
hgnc
HGNC:21246
resolver
uniprot
A0A1B0GW56
resolver
uniprot
A3RMU3
resolver
uniprot
B8XXQ3
resolver
uniprot
J3JS20
resolver
uniprot
Q2A6N1
resolver
uniprot
Q3SY95
resolver
uniprot
Q3SY96
resolver
uniprot
Q5R3L2
resolver
uniprot_entry
A0A1B0GW56_HUMAN
resolver
uniprot_entry
B8XXQ3_HUMAN
resolver
uniprot_entry
PLPL1_HUMAN
resolver
uniprot_sec
A3RMU3
resolver
uniprot_sec
J3JS20
resolver
uniprot_sec
Q2A6N1
resolver
uniprot_sec
Q3SY95
resolver
uniprot_sec
Q3SY96
resolver
uniprot_sec
Q5R3L2
resolver
amino_acid_sequence
MEEQVFKGDPDTPHSISFSGSGFLSFYQAGAVDALRDLAPRMLETAHRFAGTSAGAVIAALAICGIEMDEYLRVLNVGVAEVKKSFLGPLSPSCKMVQMMRQFLYRVLPEDSYKVTTGKLHVSLTRLTDGENVVVSEFTSKEELIEALYCSCFVPVYCGLIPPTYRGVRYIDGGFTGMQPCAFWTDAITISTFSGQQDICPRDCPAIFHDFRMFNCSFQFSLENIARMTHALFPPDLVILHDYYYRGYEDAVLYLRRLNAVYLNSSSKRVIFPRVEVYCQIELALGNECPERSQPSLRARQASLEGATQPHKEWVPKGDGRGSHGPPVSQPVQTLEFTCESPVSAPVSPLEQPPAQPLASSTPLSLSGMPPVSFPAVHKPPSSTPGSSLPTPPPGLSPLSPQQQVQPSGSPARSLHSQAPTSPRPSLGPSTVGAPQTLPRSSLSAFPAQPPVEELGQEQPQAVALLVSSKPKSAVPLVHVKETVSKPYVTESPAEDSNWVNKVFKKNKQKTSGTRKGFPRHSGSKKPSSKVQ
uniprot
proteins
disease_involvement
DISEASE: Ichthyosis, congenital, autosomal recessive 10 (ARCI10) [MIM:615024]: A form of autosomal recessive congenital ichthyosis, a disorder of keratinization with abnormal differentiation and desquamation of the epidermis, resulting in abnormal skin scaling over the whole body. The main skin phenotypes are lamellar ichthyosis (LI) and non-bullous congenital ichthyosiform erythroderma (NCIE), although phenotypic overlap within the same patient or among patients from the same family can occur. Lamellar ichthyosis is a condition often associated with an embedment in a collodion-like membrane at birth; skin scales later develop, covering the entire body surface. Non-bullous congenital ichthyosiform erythroderma characterized by fine whitish scaling on an erythrodermal background; larger brownish scales are present on the buttocks, neck and legs. {ECO:0000269|PubMed:22246504, ECO:0000269|PubMed:24344921, ECO:0000269|PubMed:28248318}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
2.3.1.296
uniprot
proteins
function
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). Catalyzes the last step of the synthesis of omega-O-acylceramides by transferring linoleic acid from triglycerides to an omega-hydroxyceramide (PubMed:27751867, PubMed:28248318). Omega-O-acylceramides, are required for the biogenesis of lipid lamellae in the stratum corneum and the formation of the cornified lipid envelope which are essential for the epidermis barrier function (PubMed:22246504, PubMed:27751867, PubMed:28248318). These lipids also play a role in keratinocyte differentiation (By similarity). May also act on omega-hydroxylated ultra-long chain fatty acids (omega-OH ULCFA) and acylglucosylceramides (GlcEOS) (By similarity). {ECO:0000250|UniProtKB:Q3V1D5, ECO:0000269|PubMed:22246504, ECO:0000269|PubMed:27751867, ECO:0000269|PubMed:28248318}.
uniprot
proteins
mass_dalton
57875
uniprot
proteins
pubmed
14574404
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16799181
uniprot
proteins
pubmed
22246504
uniprot
proteins
pubmed
24344921
uniprot
proteins
pubmed
27751867
uniprot
proteins
pubmed
28248300
uniprot
proteins
pubmed
28248318
uniprot
proteins
sequence_length
532
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:22246504}.
uniprot
proteins