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HPS4

Official Full Name

Hermansky-Pudlak syndrome 4
Overview

Hermansky-Pudlak syndrome is a disorder of organelle biogenesis in which oculocutaneous albinism, bleeding, and pulmonary fibrosis result from defects of melanosomes, platelet dense granules, and lysosomes. Mutations in this gene as well as several others can cause this syndrome. The protein encoded by this gene appears to be important in organelle biogenesis and is similar to the mouse light ear protein. Multiple transcript variants encoding different isoforms have been found for this gene.
Synonyms

HPS4; Hermansky-Pudlak syndrome 4; Hermansky-Pudlak syndrome 4 protein; KIAA1667; LE; Hermansky Pudlak syndrome 4 protein; Light ear protein homolog; light-ear protein homolog; bK1048E9.4; bK1048E9.5;

Species	Cat.#	Product name	Source (Host)	Tag	Protein Length	Price
Human	HPS4-13927H	Recombinant Human HPS4, His-tagged	E.coli	His	1-350a.a.	$319 / 25ug
Human	HPS4-5395HCL	Recombinant Human HPS4 293 Cell Lysate	HEK293	N/A		Inquiry
Mouse	Hps4-3436M	Recombinant Mouse Hps4 Protein, Myc/DDK-tagged	HEK293T	Myc/DDK		Inquiry
Mouse	Hps4-1858M	Recombinant Mouse Hps4 protein, His & T7-tagged	E.coli	His/T7	Leu20~Leu214 (Accession # Q99KG7)	Inquiry
Zebrafish	HPS4-10653Z	Recombinant Zebrafish HPS4	Mammalian Cell	His		Inquiry

Involved Pathway
Protein Function
Interacting Protein
HPS4 Related Articles

HPS4 involved in several pathways and played different roles in them. We selected most pathways HPS4 participated on our site, such as , which may be useful for your reference. Also, other proteins which involved in the same pathway with HPS4 were listed below. Creative BioMart supplied nearly all the proteins listed, you can search them on our site.

Pathway Name	Pathway Related Protein

HPS4 has several biochemical functions, for example, protein binding, protein dimerization activity, protein homodimerization activity. Some of the functions are cooperated with other proteins, some of the functions could acted by HPS4 itself. We selected most functions HPS4 had, and list some proteins which have the same functions with HPS4. You can find most of the proteins on our site.

Function	Related Protein
protein binding	MEAF6;ARHGAP4;NAPG;SSNA1;DERL2;PRKG1;SETBP1;STRADB;C21orf2
protein dimerization activity	MTOR;MNT;KIF9;ABCG1;DAO1;HER13;ATOH7;HER11;FBXW11B
protein homodimerization activity	PEX11A;PLEK;GREM2;EXT1;KCNK3;HIF1AN;TRPM8;SPPL3;SYT14

HPS4 has direct interactions with proteins and molecules. Those interactions were detected by several methods such as yeast two hybrid, co-IP, pull-down and so on. We selected proteins and molecules interacted with HPS4 here. Most of them are supplied by our site. Hope this information will be useful for your research of HPS4.

HPS1; RAC1

Nazarian, R; Huizing, M; et al. An immunoblotting assay to facilitate the molecular diagnosis of Hermansky-Pudlak syndrome. MOLECULAR GENETICS AND METABOLISM 93:134-144(2008).

Starcevic, M; Dell'Angelica, EC; et al. Identification of snapin and three novel proteins (BLOS1, BLOS2, and BLOS3/reduced pigmentation) as subunits of biogenesis of lysosome-related organelles complex-1 (BLOC-1). JOURNAL OF BIOLOGICAL CHEMISTRY 279:28393-28401(2004).