Comparison

Recombinant Human Nephrocystin-1(NPHP1),partial

Manufacturer Cusabio
Category
Type Proteins
Specific against other
Amount 100ug
Host E.coli
Item no. CSB-EP015985HU-100
eClass 6.1 34160400
eClass 9.0 42020190
Available
Research Topic
Metabolism
Uniprot ID
O15259
Gene Names
NPHP1
Organism
Homo sapiens (Human)
AA Sequence
MLARRQRDPLQALRRRNQELKQQVDSLLSESQLKE ALEPNKRQHIYQRCIQLKQAIDENKNALQKLSKAD ESAPVANYNQRKEEEHTLLDKLTQQLQGLAVTISR ENIT
Expression Region
1-109aa
Sequence Info
Partial
Source
E.coli
Tag Info
N-terminal GST-tagged
MW
39.7 kDa
Alternative Name
Juvenile nephronophthisis 1 protein
Relevance
Together with BCAR1 it may play a role in the control of epithelial cell polarity. Involved in the organization of apical junctions in kidney cells together with NPHP4 and RPGRIP1L/NPHP8 . Does not se to be strictly required for ciliogenesis . Ses to help to recruit PTK2B/PYK2 to cell matrix adhesions, thereby initiating phosphorylation of PTK2B/PYK2 and PTK2B/PYK2-dependent signaling. May play a role in the regulation of intraflagellar transport (IFT) during cilia assbly. Required for normal retina development. In connecting photoreceptor cilia influences the movent of some IFT proteins such as IFT88 and WDR19. Involved in spermatogenesis .
Reference
Mutations in KIF7 link Joubert syndrome with Sonic Hedgehog signaling and microtubule dynamics.Dafinger C., Liebau M.C., Elsayed S.M., Hellenbroich Y., Boltshauser E., Korenke G.C., Fabretti F., Janecke A.R., Ebermann I., Nurnberg G., Nurnberg P., Zentgraf H., Koerber F., Addicks K., Elsobky E., Benzing T., Schermer B., Bolz H.J.J. Clin. Invest. 121:2662-2667(2011)
Purity
Greater than 90% as determined by SDS-PAGE.
Storage Buffer
Tris-based buffer, 50% glycerol
Storage
The shelf life is related to many factors, storage state, buffer ingredients, storage temperature and the stability of the protein itself.
Generally, the shelf life of liquid form is 6 months at -20C/-80C. The shelf life of lyophilized form is 12 months at -20C/-80C.
Notes
Repeated freezing and thawing is not recommended. Store working aliquots at 4C for up to one week.
Function
Together with BCAR1 it may play a role in the control of epithelial cell polarity. Involved in the organization of apical junctions in kidney cells together with NPHP4 and RPGRIP1L/NPHP8 (By similarity). Does not seem to be strictly required for ciliogenesis (By similarity). Seems to help to recruit PTK2B/PYK2 to cell matrix adhesions, thereby initiating phosphorylation of PTK2B/PYK2 and PTK2B/PYK2-dependent signaling. May play a role in the regulation of intraflagellar transport (IFT) during cilia assembly. Required for normal retina development. In connecting photoreceptor cilia influences the movement of some IFT proteins such as IFT88 and WDR19. Involved in spermatogenesis (By similarity).
Involvement in disease
Nephronophthisis 1 (NPHP1); Senior-Loken syndrome 1 (SLSN1); Joubert syndrome 4 (JBTS4)
Subcellular Location
Cell junction, adherens junction, Cell projection, cilium, Cytoplasm, cytoskeleton, cilium axoneme, Cell junction, tight junction
Protein Families
Nephrocystin-1 family
Tissue Specificity
Widespread expression, with highest levels in pituitary gland, spinal cord, thyroid gland, testis, skeletal muscle, lymph node and trachea. Weakly expressed in heart, kidney and pancreas. Expressed in nasal epithelial cells (at protein level).
Amount: 100ug
Available: In stock
Listprice: €405.35
Price: €405.35
lieferbar

Compare

Get an offer

Questions about this Product?
 
Close