Summary: LRRC37A/B like protein 1 C-terminal domain
LRRC37A/B like protein 1 C-terminal domain Provide feedback
This family represents the C-terminal domain of the putative Leucine Rich Repeat Containing protein 37A or protein 37B (LRRC37A/B) found in eukaryotes. The Leucine Rich Repeats (LRR) lies in the central region. The gene that encodes this protein is found in the chromosomal position 17q11.2, and its microdeletion results in the disease, neurofibromatosis type-1 (NF1) . The function of the protein, LRRC37B is unknown, however experimental data shows expression in the aorta, heart, skeletal muscle, liver and brain during gestation .
Bengesser K, Cooper DN, Steinmann K, Kluwe L, Chuzhanova NA, Wimmer K, Tatagiba M, Tinschert S, Mautner VF, Kehrer-Sawatzki H;, Hum Mutat. 2010;31:742-751.: A novel third type of recurrent NF1 microdeletion mediated by nonallelic homologous recombination between LRRC37B-containing low-copy repeats in 17q11.2. PUBMED:20506354 EPMC:20506354
Venturin M, Bentivegna A, Moroni R, Larizza L, Riva P;, Ann Hum Genet. 2005;69:508-516.: Evidence by expression analysis of candidate genes for congenital heart defects in the NF1 microdeletion interval. PUBMED:16138909 EPMC:16138909
External database links
This tab holds annotation information from the InterPro database.
InterPro entry IPR029423
This entry represents the C-terminal domain of the putative Leucine Rich Repeat Containing protein 37A or protein 37B (LRRC37A/B) found in eukaryotes. The Leucine Rich Repeats (LRR) lies in the central region. The gene that encodes this protein is found in the chromosomal position 17q11.2, and its microdeletion results in the disease, neurofibromatosis type-1 (NF1) [PUBMED:20506354]. The function of the protein, LRRC37B is unknown, however experimental data shows expression in the aorta, heart, skeletal muscle, liver and brain during gestation [PUBMED:16138909].
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Curation and family details
|Author:||Coggill P, Hetherington K|
|Number in seed:||25|
|Number in full:||162|
|Average length of the domain:||130.40 aa|
|Average identity of full alignment:||59 %|
|Average coverage of the sequence by the domain:||14.62 %|
|HMM build commands:||
build method: hmmbuild -o /dev/null HMM SEED
search method: hmmsearch -Z 80369284 -E 1000 --cpu 4 HMM pfamseq
|Family (HMM) version:||2|
|Download:||download the raw HMM for this family|
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