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Q8N8W4 (PLPL1_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 92. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Patatin-like phospholipase domain-containing protein 1

EC=3.1.1.-
Gene names
Name:PNPLA1
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length532 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

Lipid hydrolase. Important in the formation of the epidermal lipid barrier. Plays a role in glycerophospholipid metabolism. Ref.5

Subcellular location

Cytoplasm. Note: Clearly distributed in the cytoplasm of keratinocytes. Ref.5

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 filament bundles, which is more pronounced in upper epidermal layers and in the lower cornified layers. Ref.1 Ref.5

Involvement in 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.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.5

Sequence similarities

Contains 1 patatin domain.

Sequence caution

The sequence CAI21612.2 differs from that shown. Reason: Erroneous gene model prediction.

Ontologies

Keywords
   Biological processLipid degradation
Lipid metabolism
   Cellular componentCytoplasm
   Coding sequence diversityAlternative splicing
Polymorphism
   DiseaseDisease mutation
Ichthyosis
   Molecular functionHydrolase
   Technical termComplete proteome
Reference proteome
Gene Ontology (GO)
   Biological_processlipid catabolic process

Inferred from electronic annotation. Source: UniProtKB-KW

   Cellular_componentcytoplasm

Inferred from direct assay Ref.5. Source: UniProtKB

   Molecular_functionhydrolase activity

Inferred from electronic annotation. Source: UniProtKB-KW

Complete GO annotation...

Alternative products

This entry describes 3 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: Q8N8W4-1)

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.
Isoform 2 (identifier: Q8N8W4-2)

The sequence of this isoform differs from the canonical sequence as follows:
     1-95: Missing.
Note: Inactive.
Isoform 3 (identifier: Q8N8W4-3)

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.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 532532Patatin-like phospholipase domain-containing protein 1
PRO_0000292019

Regions

Domain16 – 185170Patatin
Motif51 – 555GXSXG
Compositional bias326 – 451126Pro-rich

Sites

Active site531 By similarity

Natural variations

Alternative sequence1 – 9595Missing in isoform 2 and isoform 3.
VSP_026371
Alternative sequence1681V → VWAFLTLPPQ in isoform 3.
VSP_026372
Natural variant591A → V in ARCI10. Ref.5
VAR_069566
Natural variant4231P → H. Ref.2 Ref.4
Corresponds to variant rs12199580 [ dbSNP | Ensembl ].
VAR_032929
Natural variant4901T → M. Ref.4
Corresponds to variant rs12197079 [ dbSNP | Ensembl ].
VAR_032930
Natural variant5221S → P. Ref.4
Corresponds to variant rs4713956 [ dbSNP | Ensembl ].
VAR_032931

Experimental info

Sequence conflict1471A → AA in CAJ58679. Ref.1

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 [UniParc].

Last modified May 18, 2010. Version 3.
Checksum: 175852A0FFABE035

FASTA53257,875
        10         20         30         40         50         60 
MEEQVFKGDP DTPHSISFSG SGFLSFYQAG AVDALRDLAP RMLETAHRFA GTSAGAVIAA 

        70         80         90        100        110        120 
LAICGIEMDE YLRVLNVGVA EVKKSFLGPL SPSCKMVQMM RQFLYRVLPE DSYKVTTGKL 

       130        140        150        160        170        180 
HVSLTRLTDG ENVVVSEFTS KEELIEALYC SCFVPVYCGL IPPTYRGVRY IDGGFTGMQP 

       190        200        210        220        230        240 
CAFWTDAITI STFSGQQDIC PRDCPAIFHD FRMFNCSFQF SLENIARMTH ALFPPDLVIL 

       250        260        270        280        290        300 
HDYYYRGYED AVLYLRRLNA VYLNSSSKRV IFPRVEVYCQ IELALGNECP ERSQPSLRAR 

       310        320        330        340        350        360 
QASLEGATQP HKEWVPKGDG RGSHGPPVSQ PVQTLEFTCE SPVSAPVSPL EQPPAQPLAS 

       370        380        390        400        410        420 
STPLSLSGMP PVSFPAVHKP PSSTPGSSLP TPPPGLSPLS PQQQVQPSGS PARSLHSQAP 

       430        440        450        460        470        480 
TSPRPSLGPS TVGAPQTLPR SSLSAFPAQP PVEELGQEQP QAVALLVSSK PKSAVPLVHV 

       490        500        510        520        530 
KETVSKPYVT ESPAEDSNWV NKVFKKNKQK TSGTRKGFPR HSGSKKPSSK VQ 

« Hide

Isoform 2 [UniParc].

Checksum: 47DE95860E41E305
Show »

FASTA43747,830
Isoform 3 [UniParc].

Checksum: 6543ABDB0D7D0853
Show »

FASTA44648,884

References

« Hide 'large scale' references
[1]"Characterization of the human patatin-like phospholipase family."
Wilson P.A., Gardner S.D., Lambie N.M., Commans S.A., Crowther D.J.
J. Lipid Res. 47:1940-1949(2006) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), TISSUE SPECIFICITY.
[2]"Complete sequencing and characterization of 21,243 full-length human cDNAs."
Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S. expand/collapse author list , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2), VARIANT HIS-423.
Tissue: Kidney.
[3]"The DNA sequence and analysis of human chromosome 6."
Mungall A.J., Palmer S.A., Sims S.K., Edwards C.A., Ashurst J.L., Wilming L., Jones M.C., Horton R., Hunt S.E., Scott C.E., Gilbert J.G.R., Clamp M.E., Bethel G., Milne S., Ainscough R., Almeida J.P., Ambrose K.D., Andrews T.D. expand/collapse author list , Ashwell R.I.S., Babbage A.K., Bagguley C.L., Bailey J., Banerjee R., Barker D.J., Barlow K.F., Bates K., Beare D.M., Beasley H., Beasley O., Bird C.P., Blakey S.E., Bray-Allen S., Brook J., Brown A.J., Brown J.Y., Burford D.C., Burrill W., Burton J., Carder C., Carter N.P., Chapman J.C., Clark S.Y., Clark G., Clee C.M., Clegg S., Cobley V., Collier R.E., Collins J.E., Colman L.K., Corby N.R., Coville G.J., Culley K.M., Dhami P., Davies J., Dunn M., Earthrowl M.E., Ellington A.E., Evans K.A., Faulkner L., Francis M.D., Frankish A., Frankland J., French L., Garner P., Garnett J., Ghori M.J., Gilby L.M., Gillson C.J., Glithero R.J., Grafham D.V., Grant M., Gribble S., Griffiths C., Griffiths M.N.D., Hall R., Halls K.S., Hammond S., Harley J.L., Hart E.A., Heath P.D., Heathcott R., Holmes S.J., Howden P.J., Howe K.L., Howell G.R., Huckle E., Humphray S.J., Humphries M.D., Hunt A.R., Johnson C.M., Joy A.A., Kay M., Keenan S.J., Kimberley A.M., King A., Laird G.K., Langford C., Lawlor S., Leongamornlert D.A., Leversha M., Lloyd C.R., Lloyd D.M., Loveland J.E., Lovell J., Martin S., Mashreghi-Mohammadi M., Maslen G.L., Matthews L., McCann O.T., McLaren S.J., McLay K., McMurray A., Moore M.J.F., Mullikin J.C., Niblett D., Nickerson T., Novik K.L., Oliver K., Overton-Larty E.K., Parker A., Patel R., Pearce A.V., Peck A.I., Phillimore B.J.C.T., Phillips S., Plumb R.W., Porter K.M., Ramsey Y., Ranby S.A., Rice C.M., Ross M.T., Searle S.M., Sehra H.K., Sheridan E., Skuce C.D., Smith S., Smith M., Spraggon L., Squares S.L., Steward C.A., Sycamore N., Tamlyn-Hall G., Tester J., Theaker A.J., Thomas D.W., Thorpe A., Tracey A., Tromans A., Tubby B., Wall M., Wallis J.M., West A.P., White S.S., Whitehead S.L., Whittaker H., Wild A., Willey D.J., Wilmer T.E., Wood J.M., Wray P.W., Wyatt J.C., Young L., Younger R.M., Bentley D.R., Coulson A., Durbin R.M., Hubbard T., Sulston J.E., Dunham I., Rogers J., Beck S.
Nature 425:805-811(2003) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[4]"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
The MGC Project Team
Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 2 AND 3), VARIANTS HIS-423; MET-490 AND PRO-522.
[5]"PNPLA1 mutations cause autosomal recessive congenital ichthyosis in golden retriever dogs and humans."
Grall A., Guaguere E., Planchais S., Grond S., Bourrat E., Hausser I., Hitte C., Le Gallo M., Derbois C., Kim G.J., Lagoutte L., Degorce-Rubiales F., Radner F.P., Thomas A., Kuery S., Bensignor E., Fontaine J., Pin D. expand/collapse author list , Zimmermann R., Zechner R., Lathrop M., Galibert F., Andre C., Fischer J.
Nat. Genet. 44:140-147(2012) [PubMed] [Europe PMC] [Abstract]
Cited for: FUNCTION, SUBCELLULAR LOCATION, TISSUE SPECIFICITY, VARIANT ARCI10 VAL-59.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
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.
CCDSCCDS34438.1. [Q8N8W4-2]
CCDS47416.1. [Q8N8W4-3]
CCDS54997.1. [Q8N8W4-1]
RefSeqNP_001139188.1. NM_001145716.2. [Q8N8W4-3]
NP_001139189.2. NM_001145717.1. [Q8N8W4-1]
NP_775947.2. NM_173676.2. [Q8N8W4-2]
UniGeneHs.407002.

3D structure databases

ProteinModelPortalQ8N8W4.
SMRQ8N8W4. Positions 224-291.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

STRING9606.ENSP00000321116.

PTM databases

PhosphoSiteQ8N8W4.

Polymorphism databases

DMDM296452995.

Proteomic databases

PaxDbQ8N8W4.
PRIDEQ8N8W4.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000312917; ENSP00000321116; ENSG00000180316. [Q8N8W4-3]
ENST00000388715; ENSP00000373367; ENSG00000180316. [Q8N8W4-2]
ENST00000394571; ENSP00000378072; ENSG00000180316. [Q8N8W4-1]
ENST00000457797; ENSP00000391868; ENSG00000180316.
GeneID285848.
KEGGhsa:285848.
UCSCuc003olw.1. human. [Q8N8W4-1]
uc010jwe.1. human. [Q8N8W4-3]

Organism-specific databases

CTD285848.
GeneCardsGC06P036337.
GeneReviewsPNPLA1.
H-InvDBHIX0005818.
HGNCHGNC:21246. PNPLA1.
HPAHPA037853.
MIM612121. gene.
615024. phenotype.
neXtProtNX_Q8N8W4.
Orphanet79394. Congenital non-bullous ichthyosiform erythroderma.
PharmGKBPA134887192.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG287365.
HOGENOMHOG000285962.
HOVERGENHBG108272.
InParanoidQ8N8W4.
KOK16813.
OrthoDBEOG7J9VQR.
PhylomeDBQ8N8W4.
TreeFamTF314272.

Gene expression databases

ArrayExpressQ8N8W4.
BgeeQ8N8W4.
CleanExHS_PNPLA1.
GenevestigatorQ8N8W4.

Family and domain databases

InterProIPR016035. Acyl_Trfase/lysoPLipase.
IPR002641. Patatin/PLipase_A2-rel.
[Graphical view]
PfamPF01734. Patatin. 1 hit.
[Graphical view]
SUPFAMSSF52151. SSF52151. 1 hit.
ProtoNetSearch...

Other

ChiTaRSPNPLA1. human.
GenomeRNAi285848.
NextBio35534725.
PROQ8N8W4.
SOURCESearch...

Entry information

Entry namePLPL1_HUMAN
AccessionPrimary (citable) accession number: Q8N8W4
Secondary accession number(s): A3RMU3 expand/collapse secondary AC list , J3JS20, Q2A6N1, Q3SY95, Q3SY96, Q5R3L2
Entry history
Integrated into UniProtKB/Swiss-Prot: June 26, 2007
Last sequence update: May 18, 2010
Last modified: July 9, 2014
This is version 92 of the entry and version 3 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 6

Human chromosome 6: entries, gene names and cross-references to MIM