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Q8N8W4

- PLPL1_HUMAN

UniProt

Q8N8W4 - PLPL1_HUMAN

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Protein
Patatin-like phospholipase domain-containing protein 1
Gene
PNPLA1
Organism
Homo sapiens (Human)
Status
Reviewed - 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)LengthDescriptionGraphical viewFeature identifierActions
Active sitei53 – 531 By similarity

GO - Molecular functioni

  1. hydrolase activity Source: UniProtKB-KW

GO - Biological processi

  1. lipid catabolic process Source: UniProtKB-KW
Complete GO annotation...

Keywords - Molecular functioni

Hydrolase

Keywords - Biological processi

Lipid degradation, Lipid metabolism

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
ProteomesiUP000005640: Chromosome 6

Organism-specific databases

HGNCiHGNC:21246. PNPLA1.

Subcellular locationi

Cytoplasm
Note: Clearly distributed in the cytoplasm of keratinocytes.1 Publication

GO - Cellular componenti

  1. cytoplasm Source: UniProtKB
Complete GO annotation...

Keywords - Cellular componenti

Cytoplasm

Pathology & Biotechi

Involvement in diseasei

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.1 Publication
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti59 – 591A → V in ARCI10. 1 Publication
VAR_069566

Keywords - Diseasei

Disease mutation, Ichthyosis

Organism-specific databases

MIMi615024. phenotype.
Orphaneti79394. Congenital non-bullous ichthyosiform erythroderma.
PharmGKBiPA134887192.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 532532Patatin-like phospholipase domain-containing protein 1
PRO_0000292019Add
BLAST

Proteomic databases

PaxDbiQ8N8W4.
PRIDEiQ8N8W4.

PTM databases

PhosphoSiteiQ8N8W4.

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

ArrayExpressiQ8N8W4.
BgeeiQ8N8W4.
CleanExiHS_PNPLA1.
GenevestigatoriQ8N8W4.

Organism-specific databases

HPAiHPA037853.

Interactioni

Protein-protein interaction databases

STRINGi9606.ENSP00000321116.

Structurei

3D structure databases

ProteinModelPortaliQ8N8W4.
SMRiQ8N8W4. Positions 224-291.

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini16 – 185170Patatin
Add
BLAST

Motif

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Motifi51 – 555GXSXG

Compositional bias

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Compositional biasi326 – 451126Pro-rich
Add
BLAST

Sequence similaritiesi

Contains 1 patatin domain.

Phylogenomic databases

eggNOGiNOG287365.
HOGENOMiHOG000285962.
HOVERGENiHBG108272.
InParanoidiQ8N8W4.
KOiK16813.
OrthoDBiEOG7J9VQR.
PhylomeDBiQ8N8W4.
TreeFamiTF314272.

Family and domain databases

InterProiIPR016035. Acyl_Trfase/lysoPLipase.
IPR002641. Patatin/PLipase_A2-rel.
[Graphical view]
PfamiPF01734. Patatin. 1 hit.
[Graphical view]
SUPFAMiSSF52151. SSF52151. 1 hit.

Sequences (3)i

Sequence statusi: Complete.

This entry describes 3 isoformsi produced by alternative splicing. Align

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

MEEQVFKGDP DTPHSISFSG SGFLSFYQAG AVDALRDLAP RMLETAHRFA    50
GTSAGAVIAA LAICGIEMDE YLRVLNVGVA EVKKSFLGPL SPSCKMVQMM 100
RQFLYRVLPE DSYKVTTGKL HVSLTRLTDG ENVVVSEFTS KEELIEALYC 150
SCFVPVYCGL IPPTYRGVRY IDGGFTGMQP CAFWTDAITI STFSGQQDIC 200
PRDCPAIFHD FRMFNCSFQF SLENIARMTH ALFPPDLVIL HDYYYRGYED 250
AVLYLRRLNA VYLNSSSKRV IFPRVEVYCQ IELALGNECP ERSQPSLRAR 300
QASLEGATQP HKEWVPKGDG RGSHGPPVSQ PVQTLEFTCE SPVSAPVSPL 350
EQPPAQPLAS STPLSLSGMP PVSFPAVHKP PSSTPGSSLP TPPPGLSPLS 400
PQQQVQPSGS PARSLHSQAP TSPRPSLGPS TVGAPQTLPR SSLSAFPAQP 450
PVEELGQEQP QAVALLVSSK PKSAVPLVHV KETVSKPYVT ESPAEDSNWV 500
NKVFKKNKQK TSGTRKGFPR HSGSKKPSSK VQ 532
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 CAI21612.2 differs from that shown. Reason: Erroneous gene model prediction.

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti59 – 591A → V in ARCI10. 1 Publication
VAR_069566
Natural varianti423 – 4231P → H.2 Publications
Corresponds to variant rs12199580 [ dbSNP | Ensembl ].
VAR_032929
Natural varianti490 – 4901T → M.1 Publication
Corresponds to variant rs12197079 [ dbSNP | Ensembl ].
VAR_032930
Natural varianti522 – 5221S → P.1 Publication
Corresponds to variant rs4713956 [ dbSNP | Ensembl ].
VAR_032931

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei1 – 9595Missing in isoform 2 and isoform 3.
VSP_026371Add
BLAST
Alternative sequencei168 – 1681V → VWAFLTLPPQ in isoform 3.
VSP_026372

Sequence conflict

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti147 – 1471A → AA in CAJ58679. 1 Publication

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
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]
ENST00000457797; ENSP00000391868; ENSG00000180316.
GeneIDi285848.
KEGGihsa:285848.
UCSCiuc003olw.1. human. [Q8N8W4-1]
uc010jwe.1. human. [Q8N8W4-3]

Polymorphism databases

DMDMi296452995.

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
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 .
CCDSi CCDS34438.1. [Q8N8W4-2 ]
CCDS47416.1. [Q8N8W4-3 ]
CCDS54997.1. [Q8N8W4-1 ]
RefSeqi NP_001139188.1. NM_001145716.2. [Q8N8W4-3 ]
NP_001139189.2. NM_001145717.1. [Q8N8W4-1 ]
NP_775947.2. NM_173676.2. [Q8N8W4-2 ]
UniGenei Hs.407002.

3D structure databases

ProteinModelPortali Q8N8W4.
SMRi Q8N8W4. Positions 224-291.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

STRINGi 9606.ENSP00000321116.

PTM databases

PhosphoSitei Q8N8W4.

Polymorphism databases

DMDMi 296452995.

Proteomic databases

PaxDbi Q8N8W4.
PRIDEi Q8N8W4.

Protocols and materials databases

Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000312917 ; ENSP00000321116 ; ENSG00000180316 . [Q8N8W4-3 ]
ENST00000388715 ; ENSP00000373367 ; ENSG00000180316 . [Q8N8W4-2 ]
ENST00000394571 ; ENSP00000378072 ; ENSG00000180316 . [Q8N8W4-1 ]
ENST00000457797 ; ENSP00000391868 ; ENSG00000180316 .
GeneIDi 285848.
KEGGi hsa:285848.
UCSCi uc003olw.1. human. [Q8N8W4-1 ]
uc010jwe.1. human. [Q8N8W4-3 ]

Organism-specific databases

CTDi 285848.
GeneCardsi GC06P036337.
GeneReviewsi PNPLA1.
H-InvDB HIX0005818.
HGNCi HGNC:21246. PNPLA1.
HPAi HPA037853.
MIMi 612121. gene.
615024. phenotype.
neXtProti NX_Q8N8W4.
Orphaneti 79394. Congenital non-bullous ichthyosiform erythroderma.
PharmGKBi PA134887192.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG287365.
HOGENOMi HOG000285962.
HOVERGENi HBG108272.
InParanoidi Q8N8W4.
KOi K16813.
OrthoDBi EOG7J9VQR.
PhylomeDBi Q8N8W4.
TreeFami TF314272.

Miscellaneous databases

ChiTaRSi PNPLA1. human.
GenomeRNAii 285848.
NextBioi 35534725.
PROi Q8N8W4.
SOURCEi Search...

Gene expression databases

ArrayExpressi Q8N8W4.
Bgeei Q8N8W4.
CleanExi HS_PNPLA1.
Genevestigatori Q8N8W4.

Family and domain databases

InterProi IPR016035. Acyl_Trfase/lysoPLipase.
IPR002641. Patatin/PLipase_A2-rel.
[Graphical view ]
Pfami PF01734. Patatin. 1 hit.
[Graphical view ]
SUPFAMi SSF52151. SSF52151. 1 hit.
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  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.
    , 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.
    , 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. Cited for: FUNCTION, SUBCELLULAR LOCATION, TISSUE SPECIFICITY, VARIANT ARCI10 VAL-59.

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: July 9, 2014
This is version 92 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

External Data

Dasty 3

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