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Q8N8W4

- PLPL1_HUMAN

UniProt

Q8N8W4 - PLPL1_HUMAN

Protein

Patatin-like phospholipase domain-containing protein 1

Gene

PNPLA1

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 4 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 93 (01 Oct 2014)
      Sequence version 3 (18 May 2010)
      Previous versions | rss
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    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 – 531By similarity

    GO - Molecular functioni

    1. hydrolase activity Source: UniProtKB-KW

    GO - Biological processi

    1. lipid catabolic process Source: UniProtKB-KW

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

    GO - Cellular componenti

    1. cytoplasm Source: UniProtKB

    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.1 Publication
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    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 1PRO_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.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Domains and Repeats

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

    Motif

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

    Compositional bias

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

    Sequence similaritiesi

    Contains 1 patatin domain.Curated

    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.

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti147 – 1471A → AA in CAJ58679. (PubMed:16799181)Curated

    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. 2 PublicationsVSP_026371Add
    BLAST
    Alternative sequencei168 – 1681V → VWAFLTLPPQ in isoform 3. 1 PublicationVSP_026372

    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

    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: October 1, 2014
    This is version 93 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