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Homo sapiens lipase, member H (LIPH), mRNA.


RefSeq Accession Definition Services Price Order
NM_139248 Homo sapiens lipase, member H (LIPH), mRNA. ORF Sequence $393.24
Peptide Services
Antibody Services
Protein Services


RefSeq Version NM_139248.2, 62241034
Length 2478 bp
Structure linear
Update Date 17-APR-2013
Organism Homo sapiens (human)
Definition Homo sapiens lipase, member H (LIPH), mRNA.
Product lipase member H precursor
Comment

Summary: This gene encodes a membrane-bound member of the mammalian triglyceride lipase family. It catalyzes the production of 2-acyl lysophosphatidic acid (LPA), which is a lipid mediator with diverse biological properties that include platelet aggregation, smooth muscle contraction, and stimulation of cell proliferation and motility. [provided by RefSeq, Jul 2008].

RefSeq NP_640341.1
CDS 111..1466
Misc Feature(1)66..68
Misc Feature(2)225..1019
Misc Feature(3)564..578
Misc Feature(4)order(570..572,642..644,852..854)
Misc Feature(5)order(807..812,843..848)
Exon (1)1..159
Gene:LIPH
Gene Synonym:AH; ARWH2; LAH2; LPDLR; mPA-PLA1; PLA1B
Exon (2)160..527
Gene:LIPH
Gene Synonym:AH; ARWH2; LAH2; LPDLR; mPA-PLA1; PLA1B
Exon (3)528..636
Gene:LIPH
Gene Synonym:AH; ARWH2; LAH2; LPDLR; mPA-PLA1; PLA1B
Exon (4)637..738
Gene:LIPH
Gene Synonym:AH; ARWH2; LAH2; LPDLR; mPA-PLA1; PLA1B
Exon (5)739..828
Gene:LIPH
Gene Synonym:AH; ARWH2; LAH2; LPDLR; mPA-PLA1; PLA1B
Exon (6)829..996
Gene:LIPH
Gene Synonym:AH; ARWH2; LAH2; LPDLR; mPA-PLA1; PLA1B
Exon (7)997..1092
Gene:LIPH
Gene Synonym:AH; ARWH2; LAH2; LPDLR; mPA-PLA1; PLA1B
Exon (8)1093..1204
Gene:LIPH
Gene Synonym:AH; ARWH2; LAH2; LPDLR; mPA-PLA1; PLA1B
Exon (9)1205..1378
Gene:LIPH
Gene Synonym:AH; ARWH2; LAH2; LPDLR; mPA-PLA1; PLA1B
Exon (10)1379..2474
Gene:LIPH
Gene Synonym:AH; ARWH2; LAH2; LPDLR; mPA-PLA1; PLA1B
Translation MLRFYLFISLLCLSRSDAEETCPSFTRLSFHSAVVGTGLNVRLMLYTRKNLTCAQTINSS AFGNLNVTKKTTFIVHGFRPTGSPPVWMDDLVKGLLSVEDMNVVVVDWNRGATTLIYTHA SSKTRKVAMVLKEFIDQMLAEGASLDDIYMIGVSLGAHISGFVGEMYDGWLGRITGLDPA GPLFNGKPHQDRLDPSDAQFVDVIHSDTDALGYKEPLGNIDFYPNGGLDQPGCPKTILGG FQYFKCDHQRSVYLYLSSLRESCTITAYPCDSYQDYRNGKCVSCGTSQKESCPLLGYYAD NWKDHLRGKDPPMTKAFFDTAEESPFCMYHYFVDIITWNKNVRRGDITIKLRDKAGNTTE SKINHEPTTFQKYHQVSLLARFNQDLDKVAAISLMFSTGSLIGPRYKLRILRMKLRSLAH PERPQLCRYDLVLMENVETVFQPILCPELQL
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Position Chain Variation Link
complement(56)-dbSNP:
complement(56)-g, adbSNP:113557528
complement(77)-t, adbSNP:201793169
complement(80)-g, cdbSNP:200259598
complement(98)-g, adbSNP:145856126
complement(118)-t, cdbSNP:149948165
complement(161)-dbSNP:
complement(161)-g, adbSNP:139264479
complement(231)-t, cdbSNP:61749467
complement(269)-g, adbSNP:61741645
complement(308)-g, adbSNP:202071682
complement(346)-t, cdbSNP:150941910
complement(357)-t, adbSNP:201629647
complement(368)-g, adbSNP:201236456
complement(416)-g, adbSNP:141937955
complement(419)-t, adbSNP:201500499
432+c, tdbSNP:267607219
complement(449)-t, cdbSNP:201972319
complement(451)-g, adbSNP:199508534
complement(461)-g, adbSNP:200623809
complement(471)-g, adbSNP:201061198
complement(518)-t, gdbSNP:200839025
complement(520)-t, cdbSNP:199726918
complement(649)-dbSNP:
complement(649)-g, cdbSNP:138900382
complement(793)-dbSNP:
complement(793)-c, adbSNP:146089796
complement(846)-dbSNP:
complement(846)-t, adbSNP:201249971
complement(852)-t, gdbSNP:201868115
complement(862)-g, adbSNP:141948236
complement(921)-t, cdbSNP:148130104
complement(962)-g, adbSNP:144288709
complement(967)-g, adbSNP:140565721
complement(968)-t, cdbSNP:139327062
complement(980)-g, cdbSNP:145766081
complement(996)-g, cdbSNP:141115870
complement(1008)-dbSNP:
complement(1008)-c, adbSNP:187535174
complement(1015)-c, adbSNP:183467748
complement(1029)-t, gdbSNP:199928391
complement(1030)-t, cdbSNP:147810274
complement(1051)-g, adbSNP:150268336
complement(1113)-dbSNP:
complement(1113)-t, cdbSNP:140838242
complement(1118)-t, cdbSNP:150976315
complement(1133)-g, adbSNP:142603972
complement(1226)-dbSNP:
complement(1226)-t, cdbSNP:61730237
complement(1292)-c, adbSNP:186353353
complement(1295)-t, cdbSNP:182644864
complement(1303)-g, adbSNP:145905764
complement(1392)-dbSNP:
complement(1392)-g, adbSNP:146753303
complement(1403)-g, adbSNP:143637393
complement(1552)-t, cdbSNP:55854644
complement(1565)-g, adbSNP:191380118
complement(1621)-t, cdbSNP:186055959
complement(1648)-g, adbSNP:6788865
complement(1751)-t, cdbSNP:139071142
complement(1861)-t, cdbSNP:115973917
complement(1893)-g, cdbSNP:181023264
complement(1917)-t, gdbSNP:146313680
complement(1986)-t, cdbSNP:192205909
complement(2060)-g, adbSNP:146218081
complement(2085)-t, cdbSNP:186138603
complement(2295)-g, adbSNP:1048823
complement(2406)-t, adbSNP:141497229
Gene SymbolLIPH
Gene SynonymAH; ARWH2; LAH2; LPDLR; mPA-PLA1; PLA1B
Chromosome3
Locus Map3q27
All Transcripts
RefSeq Accession Definition Sequence Price Select
NM_139248 Homo sapiens lipase, member H (LIPH), mRNA. Full Length $718.62
ORF Sequence $393.24
Title The beta9 loop domain of PA-PLA1alpha has a crucial role in autosomal recessive woolly hair/hypotrichosis .
Author Shinkuma,S., Inoue,A., Aoki,J., Nishie,W., Natsuga,K., Ujiie,H., Nomura,T., Abe,R., Akiyama,M. and Shimizu,H.
Journal J. Invest. Dermatol. 132 (8), 2093-2095 (2012)
Title A novel mutation in the Lipase H gene underlies autosomal recessive hypotrichosis and woolly hair .
Author Tariq,M., Azhar,A., Baig,S.M., Dahl,N. and Klar,J.
Journal Sci Rep 2, 730 (2012)
Title Identification of LIPH gene mutation in a consanguineous family segregating the woolly hair/hypotrichosis phenotype .
Author Shah,S.H., Abid,A., Shahid,S. and Khaliq,S.
Journal J Pak Med Assoc 61 (11), 1060-1064 (2011)
Title LPA-producing enzyme PA-PLA(1)alpha regulates hair follicle development by modulating EGFR signalling .
Author Inoue,A., Arima,N., Ishiguro,J., Prestwich,G.D., Arai,H. and Aoki,J.
Journal EMBO J. 30 (20), 4248-4260 (2011)
Title Mutations in the LPAR6 and LIPH genes underlie autosomal recessive hypotrichosis/woolly hair in 17 consanguineous families from Pakistan .
Author Khan,S., Habib,R., Mir,H., Umm-e-Kalsoom, Naz,G., Ayub,M., Shafique,S., Yamin,T., Ali,N., Basit,S., Wasif,N., Kamran-Ul-Hassan Naqvi,S., Ali,G., Wali,A., Ansar,M. and Ahmad,W.
Journal Clin. Exp. Dermatol. 36 (6), 652-654 (2011)
Title A novel locus for autosomal recessive form of hypotrichosis maps to chromosome 3q26.33-q27.3 .
Author Aslam,M., Chahrour,M.H., Razzaq,A., Haque,S., Yan,K., Leal,S.M. and Ahmad,W.
Journal J. Med. Genet. 41 (11), 849-852 (2004)
Title Biochemical and molecular characterization of two phosphatidic acid-selective phospholipase A1s, mPA-PLA1alpha and mPA-PLA1beta .
Author Hiramatsu,T., Sonoda,H., Takanezawa,Y., Morikawa,R., Ishida,M., Kasahara,K., Sanai,Y., Taguchi,R., Aoki,J. and Arai,H.
Journal J. Biol. Chem. 278 (49), 49438-49447 (2003)
Title Identification of a novel lipase gene mutated in lpd mice with hypertriglyceridemia and associated with dyslipidemia in humans .
Author 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. and Stewart,A.K.
Journal Hum. Mol. Genet. 12 (10), 1131-1143 (2003)
Title A novel phosphatidic acid-selective phospholipase A1 that produces lysophosphatidic acid .
Author Sonoda,H., Aoki,J., Hiramatsu,T., Ishida,M., Bandoh,K., Nagai,Y., Taguchi,R., Inoue,K. and Arai,H.
Journal J. Biol. Chem. 277 (37), 34254-34263 (2002)
Title Lipase H, a new member of the triglyceride lipase family synthesized by the intestine .
Author Jin,W., Broedl,U.C., Monajemi,H., Glick,J.M. and Rader,D.J.
Journal Genomics 80 (3), 268-273 (2002)

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