LHFPL1

LHFPL1
Identifiers
Aliases	LHFPL1 , lipoma HMGIC fusion partner-like 1, lipoma HMGIC fusion partner like 1, LHFPL tetraspan subfamily member 1
External IDs	OMIM: 300566 MGI: 1891214 HomoloGene: 18653 GeneCards: LHFPL1
Gene location (Human) Chr. X chromosome (human) [1] Band Xq23 Start 112,630,648 bp [1] End 112,680,054 bp [1]
Gene location (Mouse) Chr. X chromosome (mouse) [2] Band X|X F2 Start 144,073,355 bp [2] End 144,132,085 bp [2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in nucleus accumbens left coronary artery right coronary artery caudate nucleus putamen hypothalamus substantia nigra internal globus pallidus pituitary gland ascending aorta Top expressed in secondary oocyte esophagus lip zone of skin spinal ganglia neural tube hippocampus proper limb yolk sac stomach More reference expression data BioGPS 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: 144.07 – 144.13 Mb PubMed search [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

Lipoma HMGIC fusion partner-like 1 protein is a protein that in humans is encoded by the LHFPL1 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. 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. ^[6]

References

1. GRCh38: Ensembl release 89: ENSG00000182508 - Ensembl, May 2017
2. GRCm38: Ensembl release 89: ENSMUSG00000041700 - 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: 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. Bibcode:2005PNAS..102.7894L. 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. S2CID   22859348.
• 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. Bibcode:2002PNAS...9916899M. 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.