HPS1 (NM_182639) Human Mass Spec Standard

Specifications

Product Data
Description	HPS1 MS Standard C13 and N15-labeled recombinant protein (NP_872577)
Species	Human
Expression Host	HEK293
Expression cDNA Clone or AA Sequence	RC213679
Predicted MW	36.3 kDa
Protein Sequence	Sequence Link (showhide) >RC213679 representing NM_182639 Red=Cloning site Green=Tags(s) MKCVLVATEGAEVLFYWTDQEFEESLRLKFGQSENEEEELPALEDQLSTLLAPVIISSMTMLEKLSDTYT CFSTENGNFLYVLHLFGECLFIAINGDHTESEGDLRRKLYVLKYLFEVHFGLVTVDGHLIRKELRPPDLA QRVQLWEHFQSLLWTYSRLREQEQCFAVEALERLIHPQLCELCIEALERHVIQAVNTSPERGGEEALHAF LLVHSKLLAFYSSHSASSLRPADLLALILLVQDLYPSESTAEDDIQPSPRRARSSQNIPVQQAWSPHSTG PTGGSSAETETDSFSLPEEYFTPAPSPGDQSSGEDRRKAGGNNS TRTRPLEQKLISEEDLAANDILDYKDDDDKV
Tag	C-Myc/DDK
Purity	> 80% as determined by SDS-PAGE and Coomassie blue staining
Concentration	>0.05 µg/µL as determined by microplate BCA method
Labeling Method	Labeled with [U- 13C6, 15N4]-L-Arginine and [U- 13C6, 15N2]-L-Lysine
Buffer	25 mM Tris-HCl, 100 mM glycine, pH 7.3
Reference Data
RefSeq	NP_872577
RefSeq Size	1625
RefSeq ORF	972
Synonyms	BLOC3S1; HPS
Locus ID	3257
Cytogenetics	10q24.2
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. Alternative splicing results in multiple transcript variants. A pseudogene related to this gene is located on chromosome 22. [provided by RefSeq, Aug 2015]

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