Summary: Lipoma HMGIC fusion partner-like protein
Lipoma HMGIC fusion partner-like protein Provide feedback
This is a group of proteins expressed from a series of genes referred to as Lipoma HGMIC fusion partner-like. The proteins carry four highly conserved transmembrane domains in this entry. In certain instances, eg in LHFPL5, mutations cause deafness in humans  and hypospadias  and LHFPL1 is transcribed in six liver tumour cell lines .
Kalay E, Li Y, Uzumcu A, Uyguner O, Collin RW, Caylan R, Ulubil-Emiroglu M, Kersten FF, Hafiz G, van Wijk E, Kayserili H, Rohmann E, Wagenstaller J, Hoefsloot LH, Strom TM, Nurnberg G, Baserer N, den Hollander AI, Cremers FP, Cremers CW, Becker C, Brunner, Hum Mutat. 2006;27:633-639.: Mutations in the lipoma HMGIC fusion partner-like 5 (LHFPL5) gene cause autosomal recessive nonsyndromic hearing loss. PUBMED:16752389 EPMC:16752389
Huang C, Guo J, Liu S, Shan Y, Wu S, Cai Y, Yu L; , DNA Seq. 2004;15:299-302.: Isolation, tissue distribution and prokaryotic expression of a novel human X-linked gene LHFPL1. PUBMED:15620218 EPMC:15620218
Mansouri MR, Carlsson B, Davey E, Nordenskjold A, Wester T, Anneren G, Lackgren G, Dahl N; , Hum Genet. 2006;119:162-168.: Molecular genetic analysis of a de novo balanced translocation t(6;17)(p21.31;q11.2) associated with hypospadias and anorectal malformation. PUBMED:16395596 EPMC:16395596
External database links
This tab holds annotation information from the InterPro database.
InterPro entry IPR019372
This is a group of proteins expressed from a series of genes referred to as Lipoma HGMIC fusion partner-like. The proteins carry four highly conserved transmembrane domains. In certain instances, as in LHFPL5, mutations cause deafness in humans [PUBMED:16752389] or hypospadias [PUBMED:16395596]. LHFPL1 is transcribed in six liver tumour cell lines [PUBMED:15620218].
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This example describes an architecture with one
Gladomain, followed by two consecutive
EGFdomains, and finally a single
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Curation and family details
|Seed source:||KOGs (KOG4026)|
|Author:||KOGs, Finn RD, Coggill PC|
|Number in seed:||18|
|Number in full:||458|
|Average length of the domain:||165.10 aa|
|Average identity of full alignment:||32 %|
|Average coverage of the sequence by the domain:||78.27 %|
|HMM build commands:||
build method: hmmbuild -o /dev/null HMM SEED
search method: hmmsearch -Z 23193494 -E 1000 --cpu 4 HMM pfamseq
|Family (HMM) version:||4|
|Download:||download the raw HMM for this family|
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