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NPHP3 rabbit pAb

CAT: 0855-ES14461-02Size: 100 µLDry Ice: NoHazardous: No
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CAT#:0855-ES14461-02Size:100 µL
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Background
This gene encodes a protein containing a coiled-coil (CC) domain, a tubulin-tyrosine ligase (TTL) domain, and a tetratrico peptide repeat (TPR) domain. The encoded protein interacts with nephrocystin, it is required for normal ciliary development, and it functions in renal tubular development. Mutations in this gene are associated with nephronophthisis type 3, and also with renal-hepatic-pancreatic dysplasia, and Meckel syndrome type 7. Naturally occurring read-through transcripts exist between this gene and the downstream ACAD11 (acyl-CoA dehydrogenase family, member 11) gene. [provided by RefSeq, Feb 2011]
Description
This gene encodes a protein containing a coiled-coil (CC) domain, a tubulin-tyrosine ligase (TTL) domain, and a tetratrico peptide repeat (TPR) domain. The encoded protein interacts with nephrocystin, it is required for normal ciliary development, and it functions in renal tubular development. Mutations in this gene are associated with nephronophthisis type 3, and also with renal-hepatic-pancreatic dysplasia, and Meckel syndrome type 7. Naturally occurring read-through transcripts exist between this gene and the downstream ACAD11 (acyl-CoA dehydrogenase family, member 11) gene. [provided by RefSeq, Feb 2011],
UniProt
Q7Z494
Swiss Prot
Q7Z494
Reactivity
Human; Mouse
Immunogen
Synthesized peptide derived from human NPHP3 AA range: 1092-1142
Target
NPHP3
Clonality
Polyclonal
Source
Rabbit
Applications
WB
Concentration
1 mg/ml
Dilution
WB 1:500-2000
Buffer
-20°C/1 year
Storage Conditions
-20°C/1 year
Fragment
IgG
Subcellular Location
Cell projection, cilium . Localization to cilium is mediated via interaction with UNC119 and UNC119B, which bind to the myristoyl moiety of the N-terminus.
Gene ID (Human)
27031

UniProtKB · Q7Z494

Nephrocystin-3

NPHP3_HUMAN · Homo sapiens

View on UniProt ↗
Primary accession
Q7Z494
Review status
UniProtKB reviewed (Swiss-Prot)
Gene
NPHP3
Protein existence
1: Evidence at protein level
Organism
Homo sapiens (Human)
Taxonomy ID
9606
Alternative names
—
EC number
—
Processing
—
Secondary accessions
Q5JPE3, Q5JPE6, Q68D99, Q6NVH3, Q7Z492, Q7Z493, Q8N9R2, Q8NCM5, Q96N70, Q96NK2
Protein keywords

Technical term

3D-structureProteomics identificationReference proteome

Coding sequence diversity

Alternative splicing

Cellular component

Cell projectionCilium

Disease

CiliopathyDisease variantMeckel syndromeNephronophthisis

Domain

Coiled coilRepeatTPR repeat

PTM

LipoproteinMyristate

Biological process

Wnt signaling pathway

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