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Protein

Patatin-like phospholipase domain-containing protein 1

Gene

PNPLA1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

Lipid hydrolase. Important in the formation of the epidermal lipid barrier. Plays a role in glycerophospholipid metabolism.1 Publication

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Active sitei53NucleophilePROSITE-ProRule annotation1
Active sitei172Proton acceptorPROSITE-ProRule annotation1

GO - Molecular functioni

GO - Biological processi

Complete GO annotation...

Keywords - Molecular functioni

Hydrolase

Keywords - Biological processi

Lipid degradation, Lipid metabolism

Enzyme and pathway databases

BioCyciZFISH:ENSG00000180316-MONOMER.

Names & Taxonomyi

Protein namesi
Recommended name:
Patatin-like phospholipase domain-containing protein 1 (EC:3.1.1.-)
Gene namesi
Name:PNPLA1
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 6

Organism-specific databases

HGNCiHGNC:21246. PNPLA1.

Subcellular locationi

GO - Cellular componenti

  • cytoplasm Source: UniProtKB
  • lipid particle Source: GO_Central
  • membrane Source: GO_Central
Complete GO annotation...

Keywords - Cellular componenti

Cytoplasm

Pathology & Biotechi

Involvement in diseasei

Ichthyosis, congenital, autosomal recessive 10 (ARCI10)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA 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.
See also OMIM:615024
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_06956659A → V in ARCI10. 1 Publication1

Keywords - Diseasei

Disease mutation, Ichthyosis

Organism-specific databases

DisGeNETi285848.
MalaCardsiPNPLA1.
MIMi615024. phenotype.
OpenTargetsiENSG00000180316.
Orphaneti79394. Congenital non-bullous ichthyosiform erythroderma.
PharmGKBiPA134887192.

Polymorphism and mutation databases

BioMutaiPNPLA1.
DMDMi296452995.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00002920191 – 532Patatin-like phospholipase domain-containing protein 1Add BLAST532

Proteomic databases

PaxDbiQ8N8W4.
PRIDEiQ8N8W4.

PTM databases

iPTMnetiQ8N8W4.
PhosphoSitePlusiQ8N8W4.

Expressioni

Tissue specificityi

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 filament bundles, which is more pronounced in upper epidermal layers and in the lower cornified layers.2 Publications

Gene expression databases

BgeeiENSG00000180316.
CleanExiHS_PNPLA1.
ExpressionAtlasiQ8N8W4. baseline and differential.
GenevisibleiQ8N8W4. HS.

Organism-specific databases

HPAiHPA037853.

Interactioni

Protein-protein interaction databases

BioGridi130231. 11 interactors.
STRINGi9606.ENSP00000378072.

Structurei

3D structure databases

ProteinModelPortaliQ8N8W4.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini16 – 185PNPLAPROSITE-ProRule annotationAdd BLAST170

Motif

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Motifi51 – 55GXSXGPROSITE-ProRule annotation5
Motifi172 – 174DGA/GPROSITE-ProRule annotation3

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi326 – 451Pro-richAdd BLAST126

Sequence similaritiesi

Contains 1 PNPLA (patatin-like phospholipase) domain.PROSITE-ProRule annotation

Phylogenomic databases

eggNOGiKOG3773. Eukaryota.
ENOG410XSQS. LUCA.
GeneTreeiENSGT00390000005295.
HOGENOMiHOG000285962.
HOVERGENiHBG108272.
InParanoidiQ8N8W4.
KOiK16813.
PhylomeDBiQ8N8W4.
TreeFamiTF314272.

Family and domain databases

InterProiIPR016035. Acyl_Trfase/lysoPLipase.
IPR002641. Patatin/PLipase_A2-rel.
IPR033562. PLPL.
[Graphical view]
PANTHERiPTHR12406. PTHR12406. 1 hit.
PfamiPF01734. Patatin. 1 hit.
[Graphical view]
SUPFAMiSSF52151. SSF52151. 1 hit.
PROSITEiPS51635. PNPLA. 1 hit.
[Graphical view]

Sequences (3)i

Sequence statusi: Complete.

This entry describes 3 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q8N8W4-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        10         20         30         40         50
MEEQVFKGDP DTPHSISFSG SGFLSFYQAG AVDALRDLAP RMLETAHRFA
60 70 80 90 100
GTSAGAVIAA LAICGIEMDE YLRVLNVGVA EVKKSFLGPL SPSCKMVQMM
110 120 130 140 150
RQFLYRVLPE DSYKVTTGKL HVSLTRLTDG ENVVVSEFTS KEELIEALYC
160 170 180 190 200
SCFVPVYCGL IPPTYRGVRY IDGGFTGMQP CAFWTDAITI STFSGQQDIC
210 220 230 240 250
PRDCPAIFHD FRMFNCSFQF SLENIARMTH ALFPPDLVIL HDYYYRGYED
260 270 280 290 300
AVLYLRRLNA VYLNSSSKRV IFPRVEVYCQ IELALGNECP ERSQPSLRAR
310 320 330 340 350
QASLEGATQP HKEWVPKGDG RGSHGPPVSQ PVQTLEFTCE SPVSAPVSPL
360 370 380 390 400
EQPPAQPLAS STPLSLSGMP PVSFPAVHKP PSSTPGSSLP TPPPGLSPLS
410 420 430 440 450
PQQQVQPSGS PARSLHSQAP TSPRPSLGPS TVGAPQTLPR SSLSAFPAQP
460 470 480 490 500
PVEELGQEQP QAVALLVSSK PKSAVPLVHV KETVSKPYVT ESPAEDSNWV
510 520 530
NKVFKKNKQK TSGTRKGFPR HSGSKKPSSK VQ
Length:532
Mass (Da):57,875
Last modified:May 18, 2010 - v3
Checksum:i175852A0FFABE035
GO
Isoform 2 (identifier: Q8N8W4-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-95: Missing.

Note: Inactive.
Show »
Length:437
Mass (Da):47,830
Checksum:i47DE95860E41E305
GO
Isoform 3 (identifier: Q8N8W4-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-95: Missing.
     168-168: V → VWAFLTLPPQ

Note: Inactive. No experimental confirmation available.
Show »
Length:446
Mass (Da):48,884
Checksum:i6543ABDB0D7D0853
GO

Sequence cautioni

The sequence CAI21612 differs from that shown. Reason: Erroneous gene model prediction.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti147A → AA in CAJ58679 (PubMed:16799181).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_06956659A → V in ARCI10. 1 Publication1
Natural variantiVAR_032929423P → H.2 PublicationsCorresponds to variant rs12199580dbSNPEnsembl.1
Natural variantiVAR_032930490T → M.1 PublicationCorresponds to variant rs12197079dbSNPEnsembl.1
Natural variantiVAR_032931522S → P.1 PublicationCorresponds to variant rs4713956dbSNPEnsembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0263711 – 95Missing in isoform 2 and isoform 3. 2 PublicationsAdd BLAST95
Alternative sequenceiVSP_026372168V → VWAFLTLPPQ in isoform 3. 1 Publication1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AM182887 mRNA. Translation: CAJ58679.1.
AK096074 mRNA. Translation: BAC04697.1.
Z84484 Genomic DNA. Translation: CAI21612.2. Sequence problems.
Z84484 Genomic DNA. Translation: CAI21613.1.
Z84484 Genomic DNA. Translation: CAM45844.1.
BC103905 mRNA. Translation: AAI03906.1.
BC103906 mRNA. Translation: AAI03907.1.
BC103907 mRNA. Translation: AAI03908.1.
CCDSiCCDS34438.1. [Q8N8W4-2]
CCDS47416.1. [Q8N8W4-3]
CCDS54997.1. [Q8N8W4-1]
RefSeqiNP_001139188.1. NM_001145716.2. [Q8N8W4-3]
NP_001139189.2. NM_001145717.1. [Q8N8W4-1]
NP_775947.2. NM_173676.2. [Q8N8W4-2]
UniGeneiHs.407002.

Genome annotation databases

EnsembliENST00000312917; ENSP00000321116; ENSG00000180316. [Q8N8W4-3]
ENST00000388715; ENSP00000373367; ENSG00000180316. [Q8N8W4-2]
ENST00000394571; ENSP00000378072; ENSG00000180316. [Q8N8W4-1]
GeneIDi285848.
KEGGihsa:285848.
UCSCiuc003olw.2. human. [Q8N8W4-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AM182887 mRNA. Translation: CAJ58679.1.
AK096074 mRNA. Translation: BAC04697.1.
Z84484 Genomic DNA. Translation: CAI21612.2. Sequence problems.
Z84484 Genomic DNA. Translation: CAI21613.1.
Z84484 Genomic DNA. Translation: CAM45844.1.
BC103905 mRNA. Translation: AAI03906.1.
BC103906 mRNA. Translation: AAI03907.1.
BC103907 mRNA. Translation: AAI03908.1.
CCDSiCCDS34438.1. [Q8N8W4-2]
CCDS47416.1. [Q8N8W4-3]
CCDS54997.1. [Q8N8W4-1]
RefSeqiNP_001139188.1. NM_001145716.2. [Q8N8W4-3]
NP_001139189.2. NM_001145717.1. [Q8N8W4-1]
NP_775947.2. NM_173676.2. [Q8N8W4-2]
UniGeneiHs.407002.

3D structure databases

ProteinModelPortaliQ8N8W4.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi130231. 11 interactors.
STRINGi9606.ENSP00000378072.

PTM databases

iPTMnetiQ8N8W4.
PhosphoSitePlusiQ8N8W4.

Polymorphism and mutation databases

BioMutaiPNPLA1.
DMDMi296452995.

Proteomic databases

PaxDbiQ8N8W4.
PRIDEiQ8N8W4.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000312917; ENSP00000321116; ENSG00000180316. [Q8N8W4-3]
ENST00000388715; ENSP00000373367; ENSG00000180316. [Q8N8W4-2]
ENST00000394571; ENSP00000378072; ENSG00000180316. [Q8N8W4-1]
GeneIDi285848.
KEGGihsa:285848.
UCSCiuc003olw.2. human. [Q8N8W4-1]

Organism-specific databases

CTDi285848.
DisGeNETi285848.
GeneCardsiPNPLA1.
GeneReviewsiPNPLA1.
H-InvDBHIX0005818.
HGNCiHGNC:21246. PNPLA1.
HPAiHPA037853.
MalaCardsiPNPLA1.
MIMi612121. gene.
615024. phenotype.
neXtProtiNX_Q8N8W4.
OpenTargetsiENSG00000180316.
Orphaneti79394. Congenital non-bullous ichthyosiform erythroderma.
PharmGKBiPA134887192.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG3773. Eukaryota.
ENOG410XSQS. LUCA.
GeneTreeiENSGT00390000005295.
HOGENOMiHOG000285962.
HOVERGENiHBG108272.
InParanoidiQ8N8W4.
KOiK16813.
PhylomeDBiQ8N8W4.
TreeFamiTF314272.

Enzyme and pathway databases

BioCyciZFISH:ENSG00000180316-MONOMER.

Miscellaneous databases

ChiTaRSiPNPLA1. human.
GenomeRNAii285848.
PROiQ8N8W4.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000180316.
CleanExiHS_PNPLA1.
ExpressionAtlasiQ8N8W4. baseline and differential.
GenevisibleiQ8N8W4. HS.

Family and domain databases

InterProiIPR016035. Acyl_Trfase/lysoPLipase.
IPR002641. Patatin/PLipase_A2-rel.
IPR033562. PLPL.
[Graphical view]
PANTHERiPTHR12406. PTHR12406. 1 hit.
PfamiPF01734. Patatin. 1 hit.
[Graphical view]
SUPFAMiSSF52151. SSF52151. 1 hit.
PROSITEiPS51635. PNPLA. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiPLPL1_HUMAN
AccessioniPrimary (citable) accession number: Q8N8W4
Secondary accession number(s): A3RMU3
, J3JS20, Q2A6N1, Q3SY95, Q3SY96, Q5R3L2
Entry historyi
Integrated into UniProtKB/Swiss-Prot: June 26, 2007
Last sequence update: May 18, 2010
Last modified: November 30, 2016
This is version 112 of the entry and version 3 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 6
    Human chromosome 6: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.