功能： disease:Defects in NPHP1 are the cause of Joubert syndrome type 4 (JBTS4) [MIM:609583]. JBTS is an autosomal recessive disorder presenting with cerebellar ataxia, oculomotor apraxia, hypotonia, neonatal breathing abnormalities and psychomotor delay. Neuroradiologically, it is characterized by cerebellar vermian hypoplasia/aplasia, thickened and reoriented superior cerebellar peduncles, and an abnormally large interpeduncular fossa, giving the appearance of a molar tooth on transaxial slices (molar tooth sign). Additional variable features include retinal dystrophy and renal disease. JBTS4 is a phenotypically mild form.,disease:Defects in NPHP1 are the cause of nephronophthisis type 1 (NPHP1) [MIM:256100]; also known as familial juvenile nephronophthisis 1. NPHP1 is an autosomal recessive inherited disease characterized by anemia, polyuria, polydipsia, isosthenuria and death in uremia. Symmetrical destruction of the kidneys involving both tubules and glomeruli occurs. The underlying pathology is a chronic tubulo-interstitial nephropathy with characteristic tubular basement membrane thickening and medullary cyst formation. Associations with extrarenal symptoms, especially ocular lesions, are frequent. The age at death ranges from about 4 to 15 years.,disease:Defects in NPHP1 are the cause of Senior-Loken syndrome type 1 (SLSN1) [MIM:266900]; also known as juvenile nephronophthisis with Leber amaurosis. SLSN is a renal-retinal disorder characterized by progressive wasting of the filtering unit of the kidney, with or without medullary cystic renal disease, and progressive eye disease. Typically this disorder becomes apparent during the first year of life.,domain:The SH3 domain mediates the stable interaction with Cas.,function:Together with Cas it may play a role in the control of epithelial cell polarity. Seems to help to recruit protein tyrosine kinase 2 beta (PTK2B) to cell matrix adhesions, thereby initiating phosphorylation of PTK2B and PTK2B-dependent signaling.,similarity:Belongs to the nephrocystin-1 family.,similarity:Contains 1 SH3 domain.,subcellular location:Localizes at or near the cell-cell adherens junctions.,subunit:Interacts with Crk-associated substrate (Cas), NPHP4, PTK2B and tensin. Interacts with INVS and NPHP3.,tissue specificity: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.,
相关产品： RS0001,RS0002,YM3028,YM3029
细胞定位： Cell junction . Cell junction, adherens junction . Cell projection, cilium . Cytoplasm, cytoskeleton, cilium axoneme . Cell junction, tight junction. In the retinal photoreceptor cell layer, localizes at the connecting cilium (By similarity). Colocalizes with E-cadherin and BCAR1 at or near the cell-cell adherens junctions (By similarity). Localized to respiratory cilia axoneme (PubMed:16308564, PubMed:16885411). Localized to the transition zone of respiratory cilia (PubMed:16885411). Localized to the transition zone of photoreceptor-connecting cilia and renal monocilia (By similarity). In cultured renal cells, it localizes diffusely in the cytoplasm but, as cells approach confluence, it accumulates at basolateral tight junctions (By similarity). .
组织表达： 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 (at protein level) (PubMed:16308564). Expressed in the renal collecting duct (at protein level) (PubMed:18477472).
功能： disease:Defects in NPHP1 are the cause of Joubert syndrome type 4 (JBTS4) [MIM:609583]. JBTS is an autosomal recessive disorder presenting with cerebellar ataxia, oculomotor apraxia, hypotonia, neonatal breathing abnormalities and psychomotor delay. Neuroradiologically, it is characterized by cerebellar vermian hypoplasia/aplasia, thickened and reoriented superior cerebellar peduncles, and an abnormally large interpeduncular fossa, giving the appearance of a molar tooth on transaxial slices (molar tooth sign). Additional variable features include retinal dystrophy and renal disease. JBTS4 is a phenotypically mild form.,disease:Defects in NPHP1 are the cause of nephronophthisis type 1 (NPHP1) [MIM:256100]; also known as familial juvenile nephronophthisis 1. NPHP1 is an autosomal recessive inherited disease characterized by anemia, polyuria, polydipsia, isosthenuria and death in uremia. Symmetrical destruction of the kidneys involving both tubules and glomeruli occurs. The underlying pathology is a chronic tubulo-interstitial nephropathy with characteristic tubular basement membrane thickening and medullary cyst formation. Associations with extrarenal symptoms, especially ocular lesions, are frequent. The age at death ranges from about 4 to 15 years.,disease:Defects in NPHP1 are the cause of Senior-Loken syndrome type 1 (SLSN1) [MIM:266900]; also known as juvenile nephronophthisis with Leber amaurosis. SLSN is a renal-retinal disorder characterized by progressive wasting of the filtering unit of the kidney, with or without medullary cystic renal disease, and progressive eye disease. Typically this disorder becomes apparent during the first year of life.,domain:The SH3 domain mediates the stable interaction with Cas.,function:Together with Cas it may play a role in the control of epithelial cell polarity. Seems to help to recruit protein tyrosine kinase 2 beta (PTK2B) to cell matrix adhesions, thereby initiating phosphorylation of PTK2B and PTK2B-dependent signaling.,similarity:Belongs to the nephrocystin-1 family.,similarity:Contains 1 SH3 domain.,subcellular location:Localizes at or near the cell-cell adherens junctions.,subunit:Interacts with Crk-associated substrate (Cas), NPHP4, PTK2B and tensin. Interacts with INVS and NPHP3.,tissue specificity: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.,
相关产品： RS0001,RS0002,YM3028,YM3029
细胞定位： Cell junction . Cell junction, adherens junction . Cell projection, cilium . Cytoplasm, cytoskeleton, cilium axoneme . Cell junction, tight junction. In the retinal photoreceptor cell layer, localizes at the connecting cilium (By similarity). Colocalizes with E-cadherin and BCAR1 at or near the cell-cell adherens junctions (By similarity). Localized to respiratory cilia axoneme (PubMed:16308564, PubMed:16885411). Localized to the transition zone of respiratory cilia (PubMed:16885411). Localized to the transition zone of photoreceptor-connecting cilia and renal monocilia (By similarity). In cultured renal cells, it localizes diffusely in the cytoplasm but, as cells approach confluence, it accumulates at basolateral tight junctions (By similarity). .
组织表达： 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 (at protein level) (PubMed:16308564). Expressed in the renal collecting duct (at protein level) (PubMed:18477472).
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