NPHP1 Polyclonal Antibody

CAT: 0763-E-AB-19106-03Size: 120 µLDry Ice: NoHazardous: No

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CAT#:0763-E-AB-19106-03Size:120 µL

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24/48H Stock Items & 2 to 6 Weeks non Stock Items.

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Background

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.

Abbreviation

NPHP1

UniProt

O15259

Host

Rabbit

Reactivity

Human

Immunogen

Fusion protein of human NPHP1

Target

JBTS4; Juvenile nephronophthisis 1 protein; Nephrocystin 1; nephronophthisis 1 (juvenile) ; Nephronophthisis; NPH1; NPHP1; SLSN1

Clonality

Polyclonal

Conjugation

Unconjugated

Applications

IHC

Field of Research

Cell Biology; Signal transduction

Purification

Antigen affinity purification

Concentration

1.32 mg/mL

Dilution

IHC 1:50-1:300

Buffer

PBS with 0.05% NaN3 and 40% Glycerol, pH7.4

Shipping Conditions

The product is shipped with ice pack, upon receipt, store it immediately at the temperature recommended.

Storage Conditions

Store at -20°C Valid for 12 months. Avoid freeze / thaw cycles.

Isotype

IgG

UniProtKB · O15259

Nephrocystin-1

NPHP1_HUMAN · Homo sapiens

View on UniProt ↗

Primary accession: O15259
Review status: UniProtKB reviewed (Swiss-Prot)
Gene: NPHP1
Protein existence: 1: Evidence at protein level
Organism: Homo sapiens (Human)
Taxonomy ID: 9606
Alternative names: —
EC number: —
Processing: —
Secondary accessions: O14837

Protein keywords

Technical term

3D-structureProteomics identificationReference proteome

Coding sequence diversity

Alternative splicing

Cellular component

Cell junctionCell projectionCiliumCytoplasmCytoskeletonTight junction

Disease

CiliopathyDisease variantJoubert syndromeLeber congenital amaurosisNephronophthisisSenior-Loken syndrome

Biological process

Cilium biogenesis/degradationDifferentiationSpermatogenesis

Domain

Coiled coilSH3 domain

PTM

Phosphoprotein

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