LHFP

LHFPL6
Identifiers
Aliases	LHFPL6 , LHFP, lipoma HMGIC fusion partner, LHFPL tetraspan subfamily member 6
External IDs	OMIM: 606710 MGI: 1920048 HomoloGene: 4223 GeneCards: LHFPL6
Gene location (Human) Chr. Chromosome 13 (human) [1] Band 13q13.3-q14.11 Start 39,209,116 bp [1] End 39,603,528 bp [1]
Gene location (Mouse) Chr. Chromosome 3 (mouse) [2] Band 3|3 C Start 52,948,949 bp [2] End 53,169,100 bp [2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in vena cava Achilles tendon synovial joint right coronary artery superficial temporal artery saphenous vein tibial nerve cerebellar vermis left coronary artery subcutaneous adipose tissue Top expressed in ascending aorta aortic valve molar right lung hand calvaria right lung lobe body of femur sciatic nerve otolith organ More reference expression data BioGPS More reference expression data
Orthologs Species Human Mouse Entrez 10186 108927 Ensembl ENSG00000183722 ENSMUSG00000048332 UniProt Q9Y693 Q8BM86 RefSeq (mRNA) NM_005780 NM_175386 RefSeq (protein) NP_005771 NP_780595 Location (UCSC) Chr 13: 39.21 – 39.6 Mb Chr 3: 52.95 – 53.17 Mb PubMed search [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

Lipoma HMGIC fusion partner is a protein that in humans is encoded by the LHFP gene. ^{[5] [6]}

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

1. GRCh38: Ensembl release 89: ENSG00000183722 - Ensembl, May 2017
2. GRCm38: Ensembl release 89: ENSMUSG00000048332 - Ensembl, May 2017
3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
5. 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.
6. "Entrez Gene: LHFP lipoma HMGIC fusion partner".

Further reading

• 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. 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

• LHFP human gene location in the UCSC Genome Browser .
• LHFP human gene details in the UCSC Genome Browser .