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; GeneCards: LHFPL1
Gene location (Human)
Chr.	X chromosome (human)
End	112,680,054 bp
Gene location (Mouse)
Chr.	X chromosome (mouse)
End	144,132,085 bp
RNA expression pattern
	Top expressed in
	testicle; ; gonad; ; nucleus accumbens; ; left coronary artery; ; right coronary artery; ; caudate nucleus; ; Descending thoracic aorta; ; putamen; ; hypothalamus; ; substantia nigra;
	Top expressed in
	zygote; ; secondary oocyte; ; esophagus; ; embryo; ; lip; ; primary oocyte; ; embryo; ; genital tubercle; ; zone of skin; ; spinal ganglia;
	More reference expression data
	More reference expression data
Orthologs
Databases	NCBI: entry; OMA: entry
	340596
	237091
	ENSG00000182508
	ENSMUSG00000041700
	Q86WI0
	Q80SV1
	NM_178175
	NM_178358
	NP_835469
	NP_848135
	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

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000182508 – Ensembl, May 2017
^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000041700 – 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: LHFPL1 lipoma HMGIC fusion partner-like 1".

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.

This article on a gene on the human X chromosome and/or its associated protein is a stub. You can help Wikipedia by adding missing information.

[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000182508 – Ensembl, May 2017

[refGRCm38Ensembl-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.

[pmid10329012-5] 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.

[entrez-6] "Entrez Gene: LHFPL1 lipoma HMGIC fusion partner-like 1".

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PROFILPELAJAR.COM

LHFPL1

References

Further reading

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