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Q8WWY8

- LIPH_HUMAN

UniProt

Q8WWY8 - LIPH_HUMAN

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Protein

Lipase member H

Gene

LIPH

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

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
Complete GO annotation...

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
Complete GO annotation...

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

BgeeiQ8WWY8.
CleanExiHS_LIPH.
ExpressionAtlasiQ8WWY8. baseline and differential.
GenevestigatoriQ8WWY8.

Organism-specific databases

HPAiHPA049079.

Interactioni

Protein-protein interaction databases

BioGridi128352. 50 interactions.
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.
GeneTreeiENSGT00760000119069.
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

        10         20         30         40         50
MLRFYLFISL LCLSRSDAEE TCPSFTRLSF HSAVVGTGLN VRLMLYTRKN
60 70 80 90 100
LTCAQTINSS AFGNLNVTKK TTFIVHGFRP TGSPPVWMDD LVKGLLSVED
110 120 130 140 150
MNVVVVDWNR GATTLIYTHA SSKTRKVAMV LKEFIDQMLA EGASLDDIYM
160 170 180 190 200
IGVSLGAHIS GFVGEMYDGW LGRITGLDPA GPLFNGKPHQ DRLDPSDAQF
210 220 230 240 250
VDVIHSDTDA LGYKEPLGNI DFYPNGGLDQ PGCPKTILGG FQYFKCDHQR
260 270 280 290 300
SVYLYLSSLR ESCTITAYPC DSYQDYRNGK CVSCGTSQKE SCPLLGYYAD
310 320 330 340 350
NWKDHLRGKD PPMTKAFFDT AEESPFCMYH YFVDIITWNK NVRRGDITIK
360 370 380 390 400
LRDKAGNTTE SKINHEPTTF QKYHQVSLLA RFNQDLDKVA AISLMFSTGS
410 420 430 440 450
LIGPRYKLRI LRMKLRSLAH PERPQLCRYD LVLMENVETV FQPILCPELQ

L
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. 50 interactions.
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.
GeneTreei ENSGT00760000119069.
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

Bgeei Q8WWY8.
CleanExi HS_LIPH.
ExpressionAtlasi Q8WWY8. baseline and differential.
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

« Hide 'large scale' publications
  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 29, 2014
This is version 101 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