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Nephrocystin-4 rabbit pAb

CAT: 0855-ES5472-01Size: 50 µLDry Ice: NoHazardous: No
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Background
This gene encodes a protein involved in renal tubular development and function. This protein interacts with nephrocystin, and belongs to a multifunctional complex that is localized to actin- and microtubule-based structures. Mutations in this gene are associated with nephronophthisis type 4, a renal disease, and with Senior-Loken syndrome type 4, a combination of nephronophthisis and retinitis pigmentosa. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2014]
Description
This gene encodes a protein involved in renal tubular development and function. This protein interacts with nephrocystin, and belongs to a multifunctional complex that is localized to actin- and microtubule-based structures. Mutations in this gene are associated with nephronophthisis type 4, a renal disease, and with Senior-Loken syndrome type 4, a combination of nephronophthisis and retinitis pigmentosa. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2014],
UniProt
O75161
Swiss Prot
O75161
Reactivity
Human; Rat; Mouse
Immunogen
The antiserum was produced against synthesized peptide derived from human NPHP4. AA range:877-926
Clonality
Polyclonal
Source
Rabbit
Applications
IHC; IF; ELISA
Concentration
1 mg/ml
Dilution
Immunohistochemistry: 1/100 - 1/300. ELISA: 1/40000. Not yet tested in other applications.
Storage Conditions
-20°C/1 year
Fragment
IgG
Subcellular Location
Cytoplasm, cytoskeleton, cilium basal body . Cytoplasm, cytoskeleton, microtubule organizing center, centrosome . Cell junction, tight junction . Nucleus . In cultured renal cells, it localizes diffusely in the cytoplasm but, as cells approach confluence, it accumulates to basolateral tight junctions (By similarity) . Localizes to the ciliary transition zone (By similarity) . In the retinal photoreceptor cell layer, localizes at the connecting cilium (By similarity) . .
Other Product Names
NPHP4; KIAA0673; Nephrocystin-4; Nephroretinin
Gene ID (Human)
261734

UniProtKB · O75161

Nephrocystin-4

NPHP4_HUMAN · Homo sapiens

View on UniProt ↗
Primary accession
O75161
Review status
UniProtKB reviewed (Swiss-Prot)
Gene
NPHP4
Protein existence
1: Evidence at protein level
Organism
Homo sapiens (Human)
Taxonomy ID
9606
Alternative names
—
EC number
—
Processing
—
Secondary accessions
Q8IWC0
Protein keywords

Coding sequence diversity

Alternative splicing

Cellular component

Cell junctionCell projectionCiliumCytoplasmCytoskeletonNucleusTight junction

Disease

CiliopathyDisease variantLeber congenital amaurosisNephronophthisisSenior-Loken syndrome

PTM

Phosphoprotein

Technical term

Proteomics identificationReference proteome

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