NPHP1 (Human) Recombinant Protein (Q01)
* The price is valid only in USA. Please select country.
-
More Files
- More Functions
-
Specification
Product Description
Human NPHP1 partial ORF ( NP_997064.1, 22 a.a. - 121 a.a.) recombinant protein with GST-tag at N-terminal.
Sequence
QQVDSLLSESQLKEALEPNKRQHIYQRCIQLKQAIDENKNALQKLSKADESAPVANYNQRKEEEHTLLDKLTQQLQGLAVTISRENITEYASFLPFFFLF
Host
Wheat Germ (in vitro)
Theoretical MW (kDa)
36.74
Preparation Method
Purification
Glutathione Sepharose 4 Fast Flow
Quality Control Testing
12.5% SDS-PAGE Stained with Coomassie Blue.
Storage Buffer
50 mM Tris-HCI, 10 mM reduced Glutathione, pH=8.0 in the elution buffer.
Storage Instruction
Store at -80°C. Aliquot to avoid repeated freezing and thawing.
Note
Best use within three months from the date of receipt of this protein.
-
Applications
Enzyme-linked Immunoabsorbent Assay
Western Blot (Recombinant protein)
Antibody Production
Protein Array
-
Gene Info — NPHP1
Entrez GeneID
4867GeneBank Accession#
NM_207181Protein Accession#
NP_997064.1Gene Name
NPHP1
Gene Alias
FLJ97602, JBTS4, NPH1, SLSN1
Gene Description
nephronophthisis 1 (juvenile)
Gene Ontology
HyperlinkGene Summary
This gene encodes a protein with src homology domain 3 (SH3) patterns. This protein interacts with Crk-associated substrate, and it appears to function in the control of cell division, as well as in cell-cell and cell-matrix adhesion signaling, likely as part of a multifunctional complex localized in actin- and microtubule-based structures. Mutations in this gene cause familial juvenile nephronophthisis type 1, a kidney disorder involving both tubules and glomeruli. Defects in this gene are also associated with Senior-Loken syndrome type 1, also referred to as juvenile nephronophthisis with Leber amaurosis, which is characterized by kidney and eye disease, and with Joubert syndrome type 4, which is characterized by cerebellar ataxia, oculomotor apraxia, psychomotor delay and neonatal breathing abnormalities, sometimes including retinal dystrophy and renal disease. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq
Other Designations
nephrocystin-1
-
Interactome
-
Disease
- +1-909-264-1399
+1-909-992-0619
Toll Free : +1-877-853-6098 - +1-909-992-3401
- sales@abnova.com