This gene is a member of the lipoma HMGIC fusion partner (LHFP) gene family, which is a subset of the superfamily of tetraspan transmembrane protein encoding genes. This gene is fused to a high-mobility group gene in a translocation-associated lipoma. Mutations in another LHFP-like gene (LHFPL1, LHFPL2) result in deafness in humans and mice. Alternatively spliced transcript variants have been found; however, their full-length nature is not known.[6]
Referencesedit
^ abcGRCh38: Ensembl release 89: ENSG00000183722 – Ensembl, May 2017
^ abcGRCm38: Ensembl release 89: ENSMUSG00000048332 – Ensembl, May 2017
^"Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^"Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^Petit MM, Schoenmakers EF, Huysmans C, Geurts JM, Mandahl N, Van de Ven WJ (Aug 1999). "LHFP, a novel translocation partner gene of HMGIC in a lipoma, is a member of a new family of LHFP-like genes". Genomics. 57 (3): 438–41. doi:10.1006/geno.1999.5778. PMID 10329012.
Kimura K, Wakamatsu A, Suzuki Y, et al. (2006). "Diversification of transcriptional modulation: Large-scale identification and characterization of putative alternative promoters of human genes". Genome Res. 16 (1): 55–65. doi:10.1101/gr.4039406. PMC1356129. PMID 16344560.
Longo-Guess CM, Gagnon LH, Cook SA, et al. (2005). "A missense mutation in the previously undescribed gene Tmhs underlies deafness in hurry-scurry (hscy) mice". Proc. Natl. Acad. Sci. U.S.A. 102 (22): 7894–9. Bibcode:2005PNAS..102.7894L. doi:10.1073/pnas.0500760102. PMC1142366. PMID 15905332.
Gerhard DS, Wagner L, Feingold EA, et al. (2004). "The Status, Quality, and Expansion of the NIH Full-Length cDNA Project: The Mammalian Gene Collection (MGC)". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMC528928. PMID 15489334.
Dunham A, Matthews LH, Burton J, et al. (2004). "The DNA sequence and analysis of human chromosome 13". Nature. 428 (6982): 522–8. Bibcode:2004Natur.428..522D. doi:10.1038/nature02379. PMC2665288. PMID 15057823.
Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. Bibcode:2002PNAS...9916899M. doi:10.1073/pnas.242603899. PMC139241. PMID 12477932.
Suzuki Y, Yoshitomo-Nakagawa K, Maruyama K, et al. (1997). "Construction and characterization of a full length-enriched and a 5'-end-enriched cDNA library". Gene. 200 (1–2): 149–56. doi:10.1016/S0378-1119(97)00411-3. PMID 9373149.
Maruyama K, Sugano S (1994). "Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides". Gene. 138 (1–2): 171–4. doi:10.1016/0378-1119(94)90802-8. PMID 8125298.
lhfp, lipoma, hmgic, fusion, partner, protein, that, humans, encoded, gene, l6identifiersaliasesl6, lipoma, hmgic, fusion, partner, tetraspan, subfamily, member, 6external, idsomim, 606710, 1920048, homologene, 4223, genecards, l6gene, location, human, chromos. Lipoma HMGIC fusion partner is a protein that in humans is encoded by the LHFP gene 5 6 LHFPL6IdentifiersAliasesLHFPL6 LHFP lipoma HMGIC fusion partner LHFPL tetraspan subfamily member 6External IDsOMIM 606710 MGI 1920048 HomoloGene 4223 GeneCards LHFPL6Gene location Human Chr Chromosome 13 human 1 Band13q13 3 q14 11Start39 209 116 bp 1 End39 603 528 bp 1 Gene location Mouse Chr Chromosome 3 mouse 2 Band3 3 CStart52 948 949 bp 2 End53 169 100 bp 2 RNA expression patternBgeeHumanMouse ortholog Top expressed invena cavaAchilles tendonsynovial jointright coronary arterysuperficial temporal arterysaphenous veintibial nervecerebellar vermisleft coronary arterysubcutaneous adipose tissueTop expressed inascending aortaaortic valvemolarright lunghandcalvariaright lung lobebody of femursciatic nerveotolith organMore reference expression dataBioGPSMore reference expression dataOrthologsSpeciesHumanMouseEntrez10186108927EnsemblENSG00000183722ENSMUSG00000048332UniProtQ9Y693Q8BM86RefSeq mRNA NM 005780NM 175386RefSeq protein NP 005771NP 780595Location UCSC Chr 13 39 21 39 6 MbChr 3 52 95 53 17 MbPubMed search 3 4 WikidataView Edit HumanView Edit Mouse This gene is a member of the lipoma HMGIC fusion partner LHFP gene family which is a subset of the superfamily of tetraspan transmembrane protein encoding genes This gene is fused to a high mobility group gene in a translocation associated lipoma Mutations in another LHFP like gene LHFPL1 LHFPL2 result in deafness in humans and mice Alternatively spliced transcript variants have been found however their full length nature is not known 6 References edit a b c GRCh38 Ensembl release 89 ENSG00000183722 Ensembl May 2017 a b c GRCm38 Ensembl release 89 ENSMUSG00000048332 Ensembl May 2017 Human PubMed Reference National Center for Biotechnology Information U S National Library of Medicine Mouse PubMed Reference National Center for Biotechnology Information U S National Library of Medicine Petit MM Schoenmakers EF Huysmans C Geurts JM Mandahl N Van de Ven WJ Aug 1999 LHFP a novel translocation partner gene of HMGIC in a lipoma is a member of a new family of LHFP like genes Genomics 57 3 438 41 doi 10 1006 geno 1999 5778 PMID 10329012 a b Entrez Gene LHFP lipoma HMGIC fusion partner Further reading editKimura K Wakamatsu A Suzuki Y et al 2006 Diversification of transcriptional modulation Large scale identification and characterization of putative alternative promoters of human genes Genome Res 16 1 55 65 doi 10 1101 gr 4039406 PMC 1356129 PMID 16344560 Longo Guess CM Gagnon LH Cook SA et al 2005 A missense mutation in the previously undescribed gene Tmhs underlies deafness in hurry scurry hscy mice Proc Natl Acad Sci U S A 102 22 7894 9 Bibcode 2005PNAS 102 7894L doi 10 1073 pnas 0500760102 PMC 1142366 PMID 15905332 Gerhard DS Wagner L Feingold EA et al 2004 The Status Quality and Expansion of the NIH Full Length cDNA Project The Mammalian Gene Collection MGC Genome Res 14 10B 2121 7 doi 10 1101 gr 2596504 PMC 528928 PMID 15489334 Dunham A Matthews LH Burton J et al 2004 The DNA sequence and analysis of human chromosome 13 Nature 428 6982 522 8 Bibcode 2004Natur 428 522D doi 10 1038 nature02379 PMC 2665288 PMID 15057823 Strausberg RL Feingold EA Grouse LH et al 2003 Generation and initial analysis of more than 15 000 full length human and mouse cDNA sequences Proc Natl Acad Sci U S A 99 26 16899 903 Bibcode 2002PNAS 9916899M doi 10 1073 pnas 242603899 PMC 139241 PMID 12477932 Suzuki Y Yoshitomo Nakagawa K Maruyama K et al 1997 Construction and characterization of a full length enriched and a 5 end enriched cDNA library Gene 200 1 2 149 56 doi 10 1016 S0378 1119 97 00411 3 PMID 9373149 Maruyama K Sugano S 1994 Oligo capping a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides Gene 138 1 2 171 4 doi 10 1016 0378 1119 94 90802 8 PMID 8125298 External links editLHFP human gene location in the UCSC Genome Browser LHFP human gene details in the UCSC Genome Browser nbsp This article on a gene on human chromosome 13 is a stub You can help Wikipedia by expanding it vte Retrieved from https en wikipedia org w index php title LHFP amp oldid 1116587301, wikipedia, wiki, book, books, library,
