Antibody Name:	Anti-HPS1 Antibody
Antibody SKU:	CAB6621
Antibody Size:	20uL, 50uL, 100uL
Application:	WB IHC IF
Reactivity:	Human, Mouse, Rat
Host Species:	Rabbit
Immunogen:	Recombinant fusion protein containing a sequence corresponding to amino acids 1-324 of human HPS1 (NP_872577.1).

Application:	WB IHC IF
Recommended Dilution:	WB 1:500 - 1:2000 IHC 1:50 - 1:100 IF 1:50 - 1:100
Reactivity:	Human, Mouse, Rat
Positive Samples:

Immunogen:	Recombinant fusion protein containing a sequence corresponding to amino acids 1-324 of human HPS1 (NP_872577.1).
Purification Method:	Affinity purification
Storage Buffer:	Store at -20'C. Avoid freeze / thaw cycles. Buffer: PBS with 0.02% sodium azide, 50% glycerol, pH7.3.
Isotype:	IgG
Sequence:	MKCV LVAT EGAE VLFY WTDQ EFEE SLRL KFGQ SENE EEEL PALE DQLS TLLA PVII SSMT MLEK LSDT YTCF STEN GNFL YVLH LFGE CLFI AING DHTE SEGD LRRK LYVL KYLF EVHF GLVT VDGH LIRK ELRP PDLA QRVQ LWEH FQSL LWTY SRLR EQEQ CFAV EALE RLIH PQLC ELCI EALE RHVI QAVN TSPE RGGE EALH AFLL VHSK LLAF YSSH SASS LRPA DLLA LILL VQDL YPSE STAE DDIQ PSPR RARS SQNI PVQQ AWSP HSTG PTGG SSAE TETD SFSL PEEY FTPA PSPG DQSS GEDR RKAG GNNS
Gene ID:	3257
Uniprot:	Q92902
Cellular Location:
Calculated MW:	36kDa/75kDa/76kDa/79kDa
Observed MW:	Refer to Figures

Synonyms:

HPS1, BLOC3S1, HPS

Background:

This gene encodes a protein that may play a role in organelle biogenesis associated with melanosomes, platelet dense granules, and lysosomes. The encoded protein is a component of three different protein complexes termed biogenesis of lysosome-related organelles complex (BLOC)-3, BLOC4, and BLOC5. Mutations in this gene are associated with Hermansky-Pudlak syndrome type 1. Alternative splicing results in multiple transcript variants. A pseudogene related to this gene is located on chromosome 22.

UniProt Protein Function:	HPS1: Component of multiple cytoplasmic organelles. Apparently crucial for their normal development and function. May be involved in intracellular protein sorting. Defects in HPS1 are the cause of Hermansky-Pudlak syndrome type 1 (HPS1). Hermansky-Pudlak syndrome (HPS) is a genetically heterogeneous, rare, autosomal recessive disorder characterized by oculocutaneous albinism, bleeding due to platelet storage pool deficiency, and lysosomal storage defects. This syndrome results from defects of diverse cytoplasmic organelles including melanosomes, platelet dense granules and lysosomes. Ceroid storage in the lungs is associated with pulmonary fibrosis, a common cause of premature death in individuals with HPS. 4 isoforms of the human protein are produced by alternative splicing.
UniProt Protein Details:	Protein type:Unknown function Chromosomal Location of Human Ortholog: 10q23.1-q23.3 Cellular Component: integral to plasma membrane; lysosome; cytoplasmic membrane-bound vesicle; cytoplasm Molecular Function:protein dimerization activity; protein binding Biological Process: secretion of lysosomal enzymes; visual perception; retina development in camera-type eye; lysosome organization and biogenesis; melanocyte differentiation; blood coagulation; positive regulation of natural killer cell activation; eye pigmentation Disease: Hermansky-pudlak Syndrome 1
NCBI Summary:	This gene encodes a protein that may play a role in organelle biogenesis associated with melanosomes, platelet dense granules, and lysosomes. The encoded protein is a component of three different protein complexes termed biogenesis of lysosome-related organelles complex (BLOC)-3, BLOC4, and BLOC5. Mutations in this gene are associated with Hermansky-Pudlak syndrome type 1. Multiple transcript variants encoding distinct isoforms have been identified for this gene; the full-length sequences of some of these have not been determined yet. [provided by RefSeq, Jul 2008]
UniProt Code:	Q92902
NCBI GenInfo Identifier:	68067891
NCBI Gene ID:	3257
NCBI Accession:	Q92902.2
UniProt Secondary Accession:	Q92902,O15402, O15502, Q5TAA3, Q8WXE5, A8MRT2,
UniProt Related Accession:	Q92902
Molecular Weight:	700
NCBI Full Name:	Hermansky-Pudlak syndrome 1 protein
NCBI Synonym Full Names:	Hermansky-Pudlak syndrome 1
NCBI Official Symbol:	HPS1
NCBI Official Synonym Symbols:	HPS
NCBI Protein Information:	Hermansky-Pudlak syndrome 1 protein
UniProt Protein Name:	Hermansky-Pudlak syndrome 1 protein
Protein Family:	Hermansky-Pudlak syndrome 1 protein
UniProt Gene Name:	HPS1
UniProt Entry Name:	HPS1_HUMAN

	Immunohistochemistry of paraffin-embedded mouse stomach using HPS1 antibody (CAB6621) at dilution of 1:100 (40x lens).
	Immunohistochemistry of paraffin-embedded rat kidney using HPS1 antibody (CAB6621) at dilution of 1:100 (40x lens).
	Immunohistochemistry of paraffin-embedded human stomach using HPS1 antibody (CAB6621) at dilution of 1:100 (40x lens).
	Immunofluorescence analysis of MCF7 cells using HPS1 antibody (CAB6621). Blue: DAPI for nuclear staining.