Antibody Name:	Anti-NPHP1 Antibody
Antibody SKU:	CAB6674
Antibody Size:	20uL, 50uL, 100uL
Application:	WB IF
Reactivity:	Human, Mouse, Rat
Host Species:	Rabbit
Immunogen:	Recombinant fusion protein containing a sequence corresponding to amino acids 345-614 of human NPHP1 (NP_001121651.1).

Application:	WB IF
Recommended Dilution:	WB 1:500 - 1:2000 IF 1:50 - 1:100
Reactivity:	Human, Mouse, Rat
Positive Samples:	Mouse lung, Rat brain

Immunogen:	Recombinant fusion protein containing a sequence corresponding to amino acids 345-614 of human NPHP1 (NP_001121651.1).
Purification Method:	Affinity purification
Storage Buffer:	Store at -20'C. Avoid freeze / thaw cycles. Buffer: PBS with 0.02% sodium azide, 50% glycerol, pH7.3.
Isotype:	IgG
Sequence:	PDLG ILFE LGIS YIRN STGE RGEL SCGW VFLK LFDA SGVP IPAK TYEL FLNG GTPY EKGI EVDP SISR RAHG SVFY QIMT MRRQ PQLL VKLR SLNR RSRN VLSL LPET LIGN MCSI HLLI FYRQ ILGD VLLK DRMS LQST DLIS HPML ATFP MLLE QPDV MDAL RSSW AGKE STLK RSEK RDKE FLKS TFLL VYHD CVLP LLHS TRLP PFRW AEEE TETA RWKV ITDF LKQN QENQ GALQ ALLS PDGV HEPF DLSE QTYD FLGE MRKN AV
Gene ID:	4867
Uniprot:	O15259
Cellular Location:	Cell junction, Cell projection, Cytoplasm, adherens junction, cilium, cilium axoneme, cytoskeleton, tight junction
Calculated MW:	69kDa/77kDa/83kDa
Observed MW:	83kDa

Synonyms:

NPHP1, JBTS4, NPH1, SLSN1

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.

UniProt Protein Function:	NPHP1: 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 seem to be strictly required for ciliogenesis. 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. Interacts with BCAR1, PTK2B/PYK2 and tensin. Interacts with INVS and NPHP3. Interacts with PACS1; the interaction is dependent on NPHP1 phosphorylation by CK2. Interatcs with KIF7. Interacts with AHI1 and TNK2. Interacts with NPHP4 in a complex containing NPHP1, NPHP4 and RPGRIP1L. Interacts with IQCB1; the interaction likely requires additional interactors. 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. Belongs to the nephrocystin-1 family. 4 isoforms of the human protein are produced by alternative splicing.
UniProt Protein Details:	Protein type:Cell adhesion Chromosomal Location of Human Ortholog: 2q13 Cellular Component: cytoskeleton; adherens junction; tight junction; membrane; intercellular junction; cytosol; photoreceptor connecting cilium Molecular Function:protein binding; structural molecule activity Biological Process: spermatid differentiation; cell-cell adhesion; cell projection organization and biogenesis; retina development in camera-type eye; organelle organization and biogenesis; excretion; signal transduction; actin cytoskeleton organization and biogenesis; visual behavior Disease: Senior-loken Syndrome 1; Nephronophthisis 1; Joubert Syndrome 4
NCBI 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, Jul 2008]
UniProt Code:	O15259
NCBI GenInfo Identifier:	17367909
NCBI Gene ID:	4867
NCBI Accession:	O15259.1
UniProt Secondary Accession:	O15259,O14837,
UniProt Related Accession:	O15259
Molecular Weight:	732
NCBI Full Name:	Nephrocystin-1
NCBI Synonym Full Names:	nephronophthisis 1 (juvenile)
NCBI Official Symbol:	NPHP1
NCBI Official Synonym Symbols:	NPH1; JBTS4; SLSN1
NCBI Protein Information:	nephrocystin-1; nephrocystin 1; juvenile nephronophthisis 1 protein
UniProt Protein Name:	Nephrocystin-1
UniProt Synonym Protein Names:	Juvenile nephronophthisis 1 protein
Protein Family:	Nephrocystin
UniProt Gene Name:	NPHP1
UniProt Entry Name:	NPHP1_HUMAN

	Western blot analysis of extracts of various cell lines, using NPHP1 antibody (CAB6674) at 1:1000 dilution._Secondary antibody: HRP Goat Anti-Rabbit IgG (H+L) (CABS014) at 1:10000 dilution._Lysates/proteins: 25ug per lane._Blocking buffer: 3% nonfat dry milk in TBST._Detection: ECL Basic Kit (RM00020)._Exposure time: 900s.
	Immunofluorescence analysis of MCF7 cells using NPHP1 antibody (CAB6674). Blue: DAPI for nuclear staining.