Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.
Basket 0
(max 400 entries)x

Your basket is currently empty.

Select item(s) and click on "Add to basket" to create your own collection here
(400 entries max)

Q8WWY8

- LIPH_HUMAN

UniProt

Q8WWY8 - LIPH_HUMAN

Protein

Lipase member H

Gene

LIPH

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
    • BLAST
    • Align
    • Format
    • Add to basket
    • History
      Entry version 100 (01 Oct 2014)
      Sequence version 1 (01 Mar 2002)
      Previous versions | rss
    • Help video
    • Feedback
    • Comment

    Functioni

    Hydrolyzes specifically phosphatidic acid (PA) to produce 2-acyl lysophosphatidic acid (LPA; a potent bioactive lipid mediator) and fatty acid. Does not hydrolyze other phospholipids, like phosphatidylserine (PS), phosphatidylcholine (PC) and phosphatidylethanolamine (PE) or triacylglycerol (TG).2 Publications

    Enzyme regulationi

    Inhibited by sodium vanadate.1 Publication

    Sites

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Active sitei154 – 1541Nucleophile
    Active sitei178 – 1781Charge relay systemBy similarity
    Active sitei248 – 2481Charge relay systemBy similarity

    GO - Molecular functioni

    1. heparin binding Source: UniProtKB
    2. phospholipase activity Source: UniProtKB

    GO - Biological processi

    1. lipid catabolic process Source: UniProtKB

    Keywords - Molecular functioni

    Hydrolase

    Keywords - Biological processi

    Lipid degradation, Lipid metabolism

    Keywords - Ligandi

    Heparin-binding

    Enzyme and pathway databases

    BRENDAi3.1.1.32. 2681.

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Lipase member H (EC:3.1.1.-)
    Short name:
    LIPH
    Alternative name(s):
    LPD lipase-related protein
    Membrane-associated phosphatidic acid-selective phospholipase A1-alpha
    Short name:
    mPA-PLA1 alpha
    Phospholipase A1 member B
    Gene namesi
    Name:LIPH
    Synonyms:LPDLR, MPAPLA1, PLA1B
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 3

    Organism-specific databases

    HGNCiHGNC:18483. LIPH.

    Subcellular locationi

    GO - Cellular componenti

    1. extracellular space Source: UniProtKB
    2. plasma membrane Source: UniProtKB

    Keywords - Cellular componenti

    Membrane, Secreted

    Pathology & Biotechi

    Involvement in diseasei

    Hypotrichosis 7 (HYPT7) [MIM:604379]: A condition characterized by the presence of less than the normal amount of hair. Affected individuals have sparse or absent scalp, axillary and body hair and sparse eyebrows and eyelashes.2 Publications
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti108 – 1081W → R in HYPT7 and ARWH2. 2 Publications
    VAR_059050
    Natural varianti172 – 20534Missing in HYPT7. 1 Publication
    VAR_030125Add
    BLAST
    Woolly hair autosomal recessive 2 (ARWH2) [MIM:604379]: A hair shaft disorder characterized by fine and tightly curled hair. Compared to normal curly hair that is observed in some populations, woolly hair grows slowly and stops growing after a few inches. Under light microscopy, woolly hair shows some structural anomalies, including trichorrhexis nodosa and tapered ends. Some individuals may present with hypotrichosis.1 Publication
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti108 – 1081W → R in HYPT7 and ARWH2. 2 Publications
    VAR_059050

    Mutagenesis

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Mutagenesisi154 – 1541S → A: Loss of lipase activity. 1 Publication

    Keywords - Diseasei

    Disease mutation, Hypotrichosis

    Organism-specific databases

    MIMi604379. phenotype.
    Orphaneti55654. Hypotrichosis simplex.
    170. Woolly hair.
    PharmGKBiPA134934352.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Signal peptidei1 – 1818Sequence AnalysisAdd
    BLAST
    Chaini19 – 451433Lipase member HPRO_0000273321Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Glycosylationi50 – 501N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi66 – 661N-linked (GlcNAc...)Sequence Analysis
    Disulfide bondi233 ↔ 246By similarity
    Disulfide bondi270 ↔ 281By similarity
    Disulfide bondi284 ↔ 292By similarity
    Glycosylationi357 – 3571N-linked (GlcNAc...)Sequence Analysis
    Disulfide bondi427 ↔ 446By similarity

    Keywords - PTMi

    Disulfide bond, Glycoprotein

    Proteomic databases

    PaxDbiQ8WWY8.
    PRIDEiQ8WWY8.

    PTM databases

    PhosphoSiteiQ8WWY8.

    Expressioni

    Tissue specificityi

    Present in intestine (at protein level). Expressed in colon, prostate, kidney, pancreas, ovary, testis, intestine, lung and pancreas. Expressed at lower level in brain, spleen and heart. In hair, it is prominently expressed in hair follicles, including the stem cell-rich bulge region.4 Publications

    Gene expression databases

    ArrayExpressiQ8WWY8.
    BgeeiQ8WWY8.
    CleanExiHS_LIPH.
    GenevestigatoriQ8WWY8.

    Organism-specific databases

    HPAiHPA049079.

    Interactioni

    Protein-protein interaction databases

    BioGridi128352. 1 interaction.
    STRINGi9606.ENSP00000296252.

    Structurei

    3D structure databases

    ProteinModelPortaliQ8WWY8.
    SMRiQ8WWY8. Positions 39-443.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Sequence similaritiesi

    Belongs to the AB hydrolase superfamily. Lipase family.Curated

    Keywords - Domaini

    Signal

    Phylogenomic databases

    eggNOGiNOG39787.
    HOGENOMiHOG000234386.
    HOVERGENiHBG080640.
    InParanoidiQ8WWY8.
    OMAiITAYPCD.
    OrthoDBiEOG79PJP2.
    PhylomeDBiQ8WWY8.
    TreeFamiTF324997.

    Family and domain databases

    Gene3Di3.40.50.1820. 1 hit.
    InterProiIPR029058. AB_hydrolase.
    IPR000734. Lipase.
    IPR013818. Lipase_N.
    IPR016272. Lipoprotein_lipase_LIPH.
    [Graphical view]
    PANTHERiPTHR11610. PTHR11610. 1 hit.
    PfamiPF00151. Lipase. 1 hit.
    [Graphical view]
    PIRSFiPIRSF000865. Lipoprotein_lipase_LIPH. 1 hit.
    PRINTSiPR00821. TAGLIPASE.
    SUPFAMiSSF53474. SSF53474. 1 hit.

    Sequencei

    Sequence statusi: Complete.

    Sequence processingi: The displayed sequence is further processed into a mature form.

    Q8WWY8-1 [UniParc]FASTAAdd to Basket

    « Hide

    MLRFYLFISL LCLSRSDAEE TCPSFTRLSF HSAVVGTGLN VRLMLYTRKN    50
    LTCAQTINSS AFGNLNVTKK TTFIVHGFRP TGSPPVWMDD LVKGLLSVED 100
    MNVVVVDWNR GATTLIYTHA SSKTRKVAMV LKEFIDQMLA EGASLDDIYM 150
    IGVSLGAHIS GFVGEMYDGW LGRITGLDPA GPLFNGKPHQ DRLDPSDAQF 200
    VDVIHSDTDA LGYKEPLGNI DFYPNGGLDQ PGCPKTILGG FQYFKCDHQR 250
    SVYLYLSSLR ESCTITAYPC DSYQDYRNGK CVSCGTSQKE SCPLLGYYAD 300
    NWKDHLRGKD PPMTKAFFDT AEESPFCMYH YFVDIITWNK NVRRGDITIK 350
    LRDKAGNTTE SKINHEPTTF QKYHQVSLLA RFNQDLDKVA AISLMFSTGS 400
    LIGPRYKLRI LRMKLRSLAH PERPQLCRYD LVLMENVETV FQPILCPELQ 450
    L 451
    Length:451
    Mass (Da):50,859
    Last modified:March 1, 2002 - v1
    Checksum:i949CE32B0C15868B
    GO

    Sequence cautioni

    The sequence BAB85023.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti108 – 1081W → R in HYPT7 and ARWH2. 2 Publications
    VAR_059050
    Natural varianti172 – 20534Missing in HYPT7. 1 Publication
    VAR_030125Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AY036912 mRNA. Translation: AAK63178.1.
    AY093498 mRNA. Translation: AAM18803.1.
    EF186229 mRNA. Translation: ABM67095.1.
    AK074229 mRNA. Translation: BAB85023.1. Different initiation.
    AK122651 mRNA. Translation: BAG53642.1.
    CH471052 Genomic DNA. Translation: EAW78218.1.
    BC064941 mRNA. Translation: AAH64941.1.
    CCDSiCCDS3272.1.
    RefSeqiNP_640341.1. NM_139248.2.
    UniGeneiHs.68864.

    Genome annotation databases

    EnsembliENST00000296252; ENSP00000296252; ENSG00000163898.
    GeneIDi200879.
    KEGGihsa:200879.
    UCSCiuc003fpm.3. human.

    Polymorphism databases

    DMDMi74762634.

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AY036912 mRNA. Translation: AAK63178.1 .
    AY093498 mRNA. Translation: AAM18803.1 .
    EF186229 mRNA. Translation: ABM67095.1 .
    AK074229 mRNA. Translation: BAB85023.1 . Different initiation.
    AK122651 mRNA. Translation: BAG53642.1 .
    CH471052 Genomic DNA. Translation: EAW78218.1 .
    BC064941 mRNA. Translation: AAH64941.1 .
    CCDSi CCDS3272.1.
    RefSeqi NP_640341.1. NM_139248.2.
    UniGenei Hs.68864.

    3D structure databases

    ProteinModelPortali Q8WWY8.
    SMRi Q8WWY8. Positions 39-443.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 128352. 1 interaction.
    STRINGi 9606.ENSP00000296252.

    PTM databases

    PhosphoSitei Q8WWY8.

    Polymorphism databases

    DMDMi 74762634.

    Proteomic databases

    PaxDbi Q8WWY8.
    PRIDEi Q8WWY8.

    Protocols and materials databases

    DNASUi 200879.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000296252 ; ENSP00000296252 ; ENSG00000163898 .
    GeneIDi 200879.
    KEGGi hsa:200879.
    UCSCi uc003fpm.3. human.

    Organism-specific databases

    CTDi 200879.
    GeneCardsi GC03M185224.
    HGNCi HGNC:18483. LIPH.
    HPAi HPA049079.
    MIMi 604379. phenotype.
    607365. gene.
    neXtProti NX_Q8WWY8.
    Orphaneti 55654. Hypotrichosis simplex.
    170. Woolly hair.
    PharmGKBi PA134934352.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG39787.
    HOGENOMi HOG000234386.
    HOVERGENi HBG080640.
    InParanoidi Q8WWY8.
    OMAi ITAYPCD.
    OrthoDBi EOG79PJP2.
    PhylomeDBi Q8WWY8.
    TreeFami TF324997.

    Enzyme and pathway databases

    BRENDAi 3.1.1.32. 2681.

    Miscellaneous databases

    ChiTaRSi LIPH. human.
    GeneWikii LIPH.
    GenomeRNAii 200879.
    NextBioi 89990.
    PROi Q8WWY8.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi Q8WWY8.
    Bgeei Q8WWY8.
    CleanExi HS_LIPH.
    Genevestigatori Q8WWY8.

    Family and domain databases

    Gene3Di 3.40.50.1820. 1 hit.
    InterProi IPR029058. AB_hydrolase.
    IPR000734. Lipase.
    IPR013818. Lipase_N.
    IPR016272. Lipoprotein_lipase_LIPH.
    [Graphical view ]
    PANTHERi PTHR11610. PTHR11610. 1 hit.
    Pfami PF00151. Lipase. 1 hit.
    [Graphical view ]
    PIRSFi PIRSF000865. Lipoprotein_lipase_LIPH. 1 hit.
    PRINTSi PR00821. TAGLIPASE.
    SUPFAMi SSF53474. SSF53474. 1 hit.
    ProtoNeti Search...

    Publicationsi

    1. "A novel phosphatidic acid-selective phospholipase A1 that produces lysophosphatidic acid."
      Sonoda H., Aoki J., Hiramatsu T., Ishida M., Bandoh K., Nagai Y., Taguchi R., Inoue K., Arai H.
      J. Biol. Chem. 277:34254-34263(2002) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA], FUNCTION, ENZYME ACTIVITY, SUBCELLULAR LOCATION, TISSUE SPECIFICITY, MUTAGENESIS OF SER-154.
    2. "Lipase h, a new member of the triglyceride lipase family synthesized by the intestine."
      Jin W., Broedl U., Monajemi H., Glick J., Rader D.
      Genomics 80:268-273(2002) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA], TISSUE SPECIFICITY.
    3. "Human hair growth deficiency is linked to a genetic defect in the phospholipase gene LIPH."
      Kazantseva A., Goltsov A., Zinchenko R., Grigorenko A.P., Abrukova A.V., Moliaka Y.K., Kirillov A.G., Guo Z., Lyle S., Ginter E.K., Rogaev E.I.
      Science 314:982-985(2006) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA], VARIANT HYPT7 172-GLY--HIS-205 DEL, TISSUE SPECIFICITY.
      Tissue: Pancreas.
    4. "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].
      Tissue: Colon.
    5. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    6. "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].
      Tissue: Lung.
    7. "Identification of a novel lipase gene mutated in lpd mice with hypertriglyceridemia and associated with dyslipidemia in humans."
      Wen X.-Y., Hegele R.A., Wang J., Wang D.Y., Cheung J., Wilson M., Yahyapour M., Bai Y., Zhuang L., Skaug J., Young T.K., Connelly P.W., Koop B.F., Tsui L.-C., Stewart A.K.
      Hum. Mol. Genet. 12:1131-1143(2003) [PubMed] [Europe PMC] [Abstract]
      Cited for: TISSUE SPECIFICITY.
    8. "Biochemical and molecular characterization of two phosphatidic acid-selective phospholipase A1s, mPA-PLA1alpha and mPA-PLA1beta."
      Hiramatsu T., Sonoda H., Takanezawa Y., Morikawa R., Ishida M., Kasahara K., Sanai Y., Taguchi R., Aoki J., Arai H.
      J. Biol. Chem. 278:49438-49447(2003) [PubMed] [Europe PMC] [Abstract]
      Cited for: FUNCTION, ENZYME REGULATION, SUBCELLULAR LOCATION.
    9. "Novel missense mutations in lipase H (LIPH) gene causing autosomal recessive hypotrichosis (LAH2)."
      Naz G., Khan B., Ali G., Azeem Z., Wali A., Ansar M., Ahmad W.
      J. Dermatol. Sci. 54:12-16(2009) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT HYPT7 ARG-108.
    10. "Mutations in the lipase H gene underlie autosomal recessive woolly hair/hypotrichosis."
      Shimomura Y., Wajid M., Petukhova L., Shapiro L., Christiano A.M.
      J. Invest. Dermatol. 129:622-628(2009) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT ARWH2 ARG-108.

    Entry informationi

    Entry nameiLIPH_HUMAN
    AccessioniPrimary (citable) accession number: Q8WWY8
    Secondary accession number(s): A2IBA7, Q8TEC7
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: January 23, 2007
    Last sequence update: March 1, 2002
    Last modified: October 1, 2014
    This is version 100 of the entry and version 1 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 3
      Human chromosome 3: 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