LHFPL1
| Lipoma HMGIC fusion partner-like 1 | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Identifiers | |||||||||
| Symbols | LHFPL1 ; MGC118798; MGC118800; MGC118801 | ||||||||
| External IDs | OMIM: 300566 MGI: 1891214 HomoloGene: 18653 GeneCards: LHFPL1 Gene | ||||||||
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| RNA expression pattern | |||||||||
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| More reference expression data | |||||||||
| Orthologs | |||||||||
| Species | Human | Mouse | |||||||
| Entrez | 340596 | 237091 | |||||||
| Ensembl | ENSG00000182508 | ENSMUSG00000041700 | |||||||
| UniProt | Q86WI0 | Q80SV1 | |||||||
| RefSeq (mRNA) | NM_178175 | NM_178358 | |||||||
| RefSeq (protein) | NP_835469 | NP_848135 | |||||||
| Location (UCSC) |
Chr X: 112.63 – 112.68 Mb |
Chr X: 145.29 – 145.35 Mb | |||||||
| PubMed search | |||||||||
Lipoma HMGIC fusion partner-like 1 protein is a protein that in humans is encoded by the LHFPL1 gene.[1][2]
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.[2]
References
- ↑ 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.
- 1 2 "Entrez Gene: LHFPL1 lipoma HMGIC fusion partner-like 1".
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. doi:10.1073/pnas.0500760102. PMC 1142366. 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. doi:10.1080/10425170412331279620. 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. PMC 528928. 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. PMC 403697. 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. PMC 139241. PMID 12477932.
- 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. doi:10.1101/gr.6.9.807. PMID 8889549.
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