Name: Anti-HPS5 Antibody (CAB12079)
Brand: Cell Biology Antibodies 2
SKU: CAB12079
Availability: OutOfStock

Antibody Name:	Anti-HPS5 Antibody
Antibody SKU:	CAB12079
Antibody Size:	20uL, 50uL, 100uL
Application:	WB
Reactivity:	Human
Host Species:	Rabbit
Immunogen:	Recombinant fusion protein containing a sequence corresponding to amino acids 340-600 of human HPS5 (NP_009147.3).

Application:	WB
Recommended Dilution:	WB 1:500 - 1:2000
Reactivity:	Human
Positive Samples:	Jurkat, 293T, B cells

Immunogen:	Recombinant fusion protein containing a sequence corresponding to amino acids 340-600 of human HPS5 (NP_009147.3).
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:	IISS RRGS QSDE DSCS LHSQ TLSE DERF KEFT SQQE EDLP DQCC GSHG NEDN VSHA PVMF ETDK NETF LPFG IPLP FRSP SPLV SLQA VKES VSSF VRKT TEKI GTLH TSPD LKVR PELR GDEQ SCEE DVSS DTCP KEED TEEE KEVT SPPP EEDR FQEL KVAT AEAM TKLQ DPLV LFES ESLR MVLQ EWLS HLEK TFAM KDFS GVSD TDNS SMKL NQDV LLVN ESKK GILD EDNE KEKR DSLG NEES VDKT ACEC VRSP R
Gene ID:	11234
Uniprot:	Q9UPZ3
Cellular Location:	Cytoplasm, cytosol
Calculated MW:	114kDa/127kDa
Observed MW:	130kDa

Synonyms:

HPS5, AIBP63, BLOC2S2

Background:

This gene encodes a protein that may play a role in organelle biogenesis associated with melanosomes, platelet dense granules, and lysosomes. This protein interacts with Hermansky-Pudlak syndrome 6 protein and may interact with the cytoplasmic domain of integrin, alpha-3. Mutations in this gene are associated with Hermansky-Pudlak syndrome type 5. Multiple transcript variants encoding two distinct isoforms have been identified for this gene.

UniProt Protein Function:	HPS5: May regulate the synthesis and function of lysosomes and of highly specialized organelles, such as melanosomes and platelet dense granules. Regulates intracellular vesicular trafficking in fibroblasts. May be involved in the regulation of general functions of integrins. Defects in HPS5 are the cause of Hermansky-Pudlak syndrome type 5 (HPS5). 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. Belongs to the HPS5 family. 2 isoforms of the human protein are produced by alternative splicing.
UniProt Protein Details:	Chromosomal Location of Human Ortholog: 11p14 Biological Process: pigmentation; organelle organization and biogenesis; blood coagulation Disease: Hermansky-pudlak Syndrome 5
NCBI Summary:	This gene encodes a protein that may play a role in organelle biogenesis associated with melanosomes, platelet dense granules, and lysosomes. This protein interacts with Hermansky-Pudlak syndrome 6 protein and may interact with the cytoplasmic domain of integrin, alpha-3. Mutations in this gene are associated with Hermansky-Pudlak syndrome type 5. Multiple transcript variants encoding two distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008]
UniProt Code:	Q9UPZ3
NCBI GenInfo Identifier:	29429222
NCBI Gene ID:	11234
NCBI Accession:	Q9UPZ3.2
UniProt Secondary Accession:	Q9UPZ3,O95942, Q8N4U0, A8K6J8, A8K8S1, D3DQX9, D3DQY0
UniProt Related Accession:	Q9UPZ3
Molecular Weight:	1129
NCBI Full Name:	Hermansky-Pudlak syndrome 5 protein
NCBI Synonym Full Names:	Hermansky-Pudlak syndrome 5
NCBI Official Symbol:	HPS5
NCBI Official Synonym Symbols:	AIBP63
NCBI Protein Information:	Hermansky-Pudlak syndrome 5 protein; ruby-eye protein 2 homolog; alpha integrin binding protein 63; alpha-integrin-binding protein 63
UniProt Protein Name:	Hermansky-Pudlak syndrome 5 protein
UniProt Synonym Protein Names:	Alpha-integrin-binding protein 63; Ruby-eye protein 2 homolog; Ru2
Protein Family:	Hermansky-Pudlak syndrome 5 protein
UniProt Gene Name:	HPS5
UniProt Entry Name:	HPS5_HUMAN

Western blot analysis of extracts of various cell lines, using HPS5 antibody (CAB12079) at 1:3000 dilution. Secondary antibody: HRP Goat Anti-Rabbit IgG (H+L) (CABS014) at 1:10000 dilution. Lysates/proteins: 25ug per lane. Blocking buffer: 3% nonfat dry milk in TBST. Detection: ECL Basic Kit (RM00020). Exposure time: 90s.

Antibodies

HPS5 Antibody (PACO09791)

Secondary Antibody

Anti-HRP Goat Anti-Rabbit IgG (H+L) Antibody (CABS014)