Summary: Hermansky-Pudlak syndrome 3
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Hermansky-Pudlak syndrome 3 Provide feedback
This domain is at the N-terminus of these vertebrate proteins. This region carries the clathrin-binding motif LLDFE at residues 172-176 in SwissProt:Q969F9. There is also reference to a human Mendelian disease at 614072 .
Anikster Y, Huizing M, White J, Shevchenko YO, Fitzpatrick DL, Touchman JW, Compton JG, Bale SJ, Swank RT, Gahl WA, Toro JR;, Nat Genet. 2001;28:376-380.: Mutation of a new gene causes a unique form of Hermansky-Pudlak syndrome in a genetic isolate of central Puerto Rico. PUBMED:11455388 EPMC:11455388
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This tab holds annotation information from the InterPro database.
InterPro entry IPR029437
This entry represents the N-terminal domain of the Hermansky-Pudlak syndrome 3 (HPS3) protein. In human HPS3, this region carries the clathrin-binding motif LLDFE at residues 172-176. Hermansky-Pudlak syndrome caused by mutations in HPS3 gene is a genetically heterogeneous autosomal recessive disorder characterised by oculocutaneous albinism, bleeding due to platelet storage pool deficiency, and lysosomal storage defects [PUBMED:11455388, PUBMED:11590544].
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Curation and family details
|Number in seed:||25|
|Number in full:||151|
|Average length of the domain:||190.00 aa|
|Average identity of full alignment:||33 %|
|Average coverage of the sequence by the domain:||17.94 %|
|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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