LHFPL1

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Lipoma HMGIC fusion partner-like 1
Identifiers
Symbol(s) LHFPL1; MGC118798; MGC118800; MGC118801
External IDs OMIM: 300566 MGI: 1891214 HomoloGene: 18653
RNA expression pattern

More reference expression data
Orthologs
Human Mouse
Entrez 340596 237091
Ensembl ENSG00000182508 ENSMUSG00000041700
Uniprot Q86WI0 Q80SV1
Refseq NM_178175 (mRNA)
NP_835469 (protein)		 NM_178358 (mRNA)
NP_848135 (protein)
Location Chr X: 111.76 - 111.81 Mb Chr X: 140.54 - 140.6 Mb
Pubmed search [1] [2]

Lipoma HMGIC fusion partner-like 1, also known as LHFPL1, is a human gene.[1]

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. Mutations in one LHFP-like gene result in deafness in humans and mice, and a second LHFP-like gene is fused to a high-mobility group gene in a translocation-associated lipoma. Alternatively spliced transcript variants have been found, but their biological validity has not been determined.[1]

[edit] References

  1. ^ a b Entrez Gene: LHFPL1 lipoma HMGIC fusion partner-like 1.

[edit] 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. 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. doi:10.1073/pnas.0500760102. PMID 15905332. 
  • Huang C, Guo J, Liu S, et al. (2005). "Isolation, tissue distribution and prokaryotic expression of a novel human X-linked gene LHFPL1.". DNA Seq. 15 (4): 299–302. PMID 15620218. 
  • 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. PMID 15489334. 
  • Clark HF, Gurney AL, Abaya E, et al. (2003). "The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment.". Genome Res. 13 (10): 2265–70. doi:10.1101/gr.1293003. PMID 12975309. 
  • 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. doi:10.1073/pnas.242603899. PMID 12477932. 
  • Petit MM, Schoenmakers EF, Huysmans C, et al. (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. 
  • Hillier LD, Lennon G, Becker M, et al. (1997). "Generation and analysis of 280,000 human expressed sequence tags.". Genome Res. 6 (9): 807–28. PMID 8889549. 
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