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Q8WWY8 (LIPH_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 99. 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·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Lipase member H

Short name=LIPH
EC=3.1.1.-
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 names
Name:LIPH
Synonyms:LPDLR, MPAPLA1, PLA1B
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length451 AA.
Sequence statusComplete.
Sequence processingThe displayed sequence is further processed into a mature form.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

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). Ref.1 Ref.8

Enzyme regulation

Inhibited by sodium vanadate. Ref.8

Subcellular location

Secreted. Membrane; Peripheral membrane protein Ref.1 Ref.8.

Tissue specificity

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. Ref.1 Ref.2 Ref.3 Ref.7

Involvement in disease

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.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.3 Ref.9

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.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.10

Sequence similarities

Belongs to the AB hydrolase superfamily. Lipase family.

Sequence caution

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

Ontologies

Keywords
   Biological processLipid degradation
Lipid metabolism
   Cellular componentMembrane
Secreted
   DiseaseDisease mutation
Hypotrichosis
   DomainSignal
   LigandHeparin-binding
   Molecular functionHydrolase
   PTMDisulfide bond
Glycoprotein
   Technical termComplete proteome
Reference proteome
Gene Ontology (GO)
   Biological_processlipid catabolic process

Inferred from direct assay Ref.8. Source: UniProtKB

   Cellular_componentextracellular space

Inferred from direct assay Ref.8. Source: UniProtKB

plasma membrane

Inferred from direct assay Ref.8. Source: UniProtKB

   Molecular_functionheparin binding

Inferred from direct assay Ref.8. Source: UniProtKB

phospholipase activity

Inferred from direct assay Ref.8. Source: UniProtKB

Complete GO annotation...

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Signal peptide1 – 1818 Potential
Chain19 – 451433Lipase member H
PRO_0000273321

Sites

Active site1541Nucleophile
Active site1781Charge relay system By similarity
Active site2481Charge relay system By similarity

Amino acid modifications

Glycosylation501N-linked (GlcNAc...) Potential
Glycosylation661N-linked (GlcNAc...) Potential
Glycosylation3571N-linked (GlcNAc...) Potential
Disulfide bond233 ↔ 246 By similarity
Disulfide bond270 ↔ 281 By similarity
Disulfide bond284 ↔ 292 By similarity
Disulfide bond427 ↔ 446 By similarity

Natural variations

Natural variant1081W → R in HYPT7 and ARWH2. Ref.9 Ref.10
VAR_059050
Natural variant172 – 20534Missing in HYPT7.
VAR_030125

Experimental info

Mutagenesis1541S → A: Loss of lipase activity. Ref.1

Sequences

Sequence LengthMass (Da)Tools
Q8WWY8 [UniParc].

Last modified March 1, 2002. Version 1.
Checksum: 949CE32B0C15868B

FASTA45150,859
        10         20         30         40         50         60 
MLRFYLFISL LCLSRSDAEE TCPSFTRLSF HSAVVGTGLN VRLMLYTRKN LTCAQTINSS 

        70         80         90        100        110        120 
AFGNLNVTKK TTFIVHGFRP TGSPPVWMDD LVKGLLSVED MNVVVVDWNR GATTLIYTHA 

       130        140        150        160        170        180 
SSKTRKVAMV LKEFIDQMLA EGASLDDIYM IGVSLGAHIS GFVGEMYDGW LGRITGLDPA 

       190        200        210        220        230        240 
GPLFNGKPHQ DRLDPSDAQF VDVIHSDTDA LGYKEPLGNI DFYPNGGLDQ PGCPKTILGG 

       250        260        270        280        290        300 
FQYFKCDHQR SVYLYLSSLR ESCTITAYPC DSYQDYRNGK CVSCGTSQKE SCPLLGYYAD 

       310        320        330        340        350        360 
NWKDHLRGKD PPMTKAFFDT AEESPFCMYH YFVDIITWNK NVRRGDITIK LRDKAGNTTE 

       370        380        390        400        410        420 
SKINHEPTTF QKYHQVSLLA RFNQDLDKVA AISLMFSTGS LIGPRYKLRI LRMKLRSLAH 

       430        440        450 
PERPQLCRYD LVLMENVETV FQPILCPELQ L 

« Hide

References

« Hide 'large scale' references
[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. 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].
Tissue: Colon.
[5]Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. expand/collapse author list , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., Venter J.C.
Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases
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.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
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.
CCDSCCDS3272.1.
RefSeqNP_640341.1. NM_139248.2.
UniGeneHs.68864.

3D structure databases

ProteinModelPortalQ8WWY8.
SMRQ8WWY8. Positions 39-443.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid128352. 1 interaction.
STRING9606.ENSP00000296252.

PTM databases

PhosphoSiteQ8WWY8.

Polymorphism databases

DMDM74762634.

Proteomic databases

PaxDbQ8WWY8.
PRIDEQ8WWY8.

Protocols and materials databases

DNASU200879.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000296252; ENSP00000296252; ENSG00000163898.
GeneID200879.
KEGGhsa:200879.
UCSCuc003fpm.3. human.

Organism-specific databases

CTD200879.
GeneCardsGC03M185224.
HGNCHGNC:18483. LIPH.
HPAHPA049079.
MIM604379. phenotype.
607365. gene.
neXtProtNX_Q8WWY8.
Orphanet55654. Hypotrichosis simplex.
170. Woolly hair.
PharmGKBPA134934352.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG39787.
HOGENOMHOG000234386.
HOVERGENHBG080640.
InParanoidQ8WWY8.
OMAITAYPCD.
OrthoDBEOG79PJP2.
PhylomeDBQ8WWY8.
TreeFamTF324997.

Enzyme and pathway databases

BRENDA3.1.1.32. 2681.

Gene expression databases

ArrayExpressQ8WWY8.
BgeeQ8WWY8.
CleanExHS_LIPH.
GenevestigatorQ8WWY8.

Family and domain databases

Gene3D3.40.50.1820. 1 hit.
InterProIPR029058. AB_hydrolase.
IPR000734. Lipase.
IPR013818. Lipase_N.
IPR016272. Lipoprotein_lipase_LIPH.
[Graphical view]
PANTHERPTHR11610. PTHR11610. 1 hit.
PfamPF00151. Lipase. 1 hit.
[Graphical view]
PIRSFPIRSF000865. Lipoprotein_lipase_LIPH. 1 hit.
PRINTSPR00821. TAGLIPASE.
SUPFAMSSF53474. SSF53474. 1 hit.
ProtoNetSearch...

Other

ChiTaRSLIPH. human.
GeneWikiLIPH.
GenomeRNAi200879.
NextBio89990.
PROQ8WWY8.
SOURCESearch...

Entry information

Entry nameLIPH_HUMAN
AccessionPrimary (citable) accession number: Q8WWY8
Secondary accession number(s): A2IBA7, Q8TEC7
Entry history
Integrated into UniProtKB/Swiss-Prot: January 23, 2007
Last sequence update: March 1, 2002
Last modified: July 9, 2014
This is version 99 of the entry and version 1 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 3

Human chromosome 3: entries, gene names and cross-references to MIM