Nephronophthisis (NPHP1) (NM_207181) Human Untagged Clone
CAT#: SC308407
NPHP1 (untagged)-Human nephronophthisis 1 (juvenile) (NPHP1), transcript variant 2
CNY 14060.00
Product images

Specifications
Product Data | |
Type | Human Untagged Clone |
Tag | Tag Free |
Synonyms | JBTS4; NPH1; SLSN1 |
Vector | pCMV6 series |
Sequence Data |
>NCBI ORF sequence for NM_207181, the custom clone sequence may differ by one or more nucleotides
ATGCTGGCGAGACGACAGCGAGATCCTCTCCAGGCCCTGCGGCGCCGCAATCAGGAGCTG AAGCAACAGGTTGATAGTTTGCTTTCTGAGAGCCAACTGAAAGAAGCTCTAGAACCCAAT AAAAGACAACATATTTATCAAAGATGTATCCAGTTAAAGCAGGCAATAGATGAAAATAAA AATGCTCTTCAAAAATTAAGCAAAGCTGATGAATCTGCACCTGTTGCAAACTATAATCAG AGAAAAGAAGAGGAGCATACTCTTTTGGACAAGCTTACCCAACAACTGCAGGGCCTTGCT GTGACAATAAGCAGAGAAAATATAACTGAAGTTGGGGCACCTACTGAAGAAGAGGAAGAA AGTGAAAGTGAAGATAGTGAAGACAGTGGTGGGGAGGAAGAAGATGCAGAGGAGGAAGAG GAAGAGAAAGAGGAAAATGAATCTCACAAATGGTCAACCGGTGAAGAATACATCGCTGTT GGAGATTTTACTGCTCAGCAAGTTGGAGATCTTACATTTAAGAAAGGGGAAATTCTCCTT GTAATTGAAAAAAAACCTGATGGTTGGTGGATAGCTAAGGATGCCAAAGGAAATGAAGGT CTTGTTCCCAGAACCTACCTAGAGCCTTATAGTGAAGAAGAAGAAGGCCAAGAGTCAAGT GAAGAGGGCAGTGAAGAAGATGTAGAGGCGGTGGATGAAACAGCAGATGGAGCAGAAGTT AAGCAAAGAACTGATCCCCACTGGAGTGCTGTTCAGAAAGCGATTTCAGAGGCGGGCATC TTCTGTCTTGTTAATCATGTCTCGTTTTGCTACCTAATAGTTCTGATGCGAAATAGGATG GAGACTGTGGAAGACACCAATGGATCTGAAACAGGGTTCAGGGCATGGAATGTACAGAGC AGAGGACGTATATTTCTGGTTTCTAAGCCTGTGCTCCAAATAAACACTGTTGATGTGTTA ACTACGATGGGAGCTATTCCTGCAGGGTTCAGGCCTTCCACGCTCTCACAGCTTCTGGAG GAAGGGAATCAATTTCGAGCAAATTACTTCTTACAACCAGAGCTCATGCCTTCACAACTG GCCTTCAGAGATCTGATGTGGGATGCTACAGAAGGCACTATTAGGTCGAGACCAAGTCGT ATTTCATTGATTCTGACATTATGGAGCTGTAAAATGATTCCTCTTCCAGGAATGAGCATA CAGGTTCTCAGCAGACATGTACGCCTCTGTCTATTTGATGGTAATAAGGTTCTGAGCAAC ATTCATACAGTCAGAGCCACATGGCAACCTAAAAAGCCCAAAACATGGACCTTTTCTCCC CAGGTTACTCGCATCTTACCATGTTTGCTTGATGGTGATTGCTTTATCAGGTCTAATTCT GCATCTCCAGATCTTGGAATATTATTTGAACTTGGAATTTCTTATATTCGCAATTCAACT GGTGAAAGAGGAGAGTTAAGCTGTGGCTGGGTGTTTCTTAAACTTTTTGATGCCAGTGGA GTTCCTATTCCAGCAAAAACTTATGAGCTTTTCTTGAATGGTGGTACTCCTTATGAAAAA GGTATTGAAGTGGACCCTTCAATATCCAGAAGAGCACACGGCAGTGTTTTCTACCAGATT ATGACAATGAGAAGGCAGCCTCAACTTCTAGTGAAACTGAGATCCTTGAACAGAAGATCA AGAAATGTACTAAGTCTACTGCCAGAAACATTAATTGGAAATATGTGTTCTATTCACTTG TTGATATTTTATCGACAAATTCTTGGAGATGTGCTCCTGAAAGACAGGATGAGCTTGCAA AGTACTGATTTAATTAGCCATCCCATGCTGGCCACCTTCCCCATGCTCTTGGAGCAGCCT GATGTGATGGATGCTCTCAGGAGTTCGTGGGCTGGAAAAGAAAGCACATTAAAAAGATCA GAGAAGAGAGACAAAGAGTTCCTGAAGTCCACGTTTCTCCTGGTTTACCATGACTGCGTG CTCCCACTTCTCCACTCCACACGCCTACCCCCATTCAGGTGGGCAGAAGAAGAGACTGAG ACTGCACGGTGGAAAGTTATCACTGACTTCCTTAAGCAAAACCAAGAAAACCAGGGCGCC CTCCAAGCTCTGCTGTCACCAGACGGAGTTCATGAACCTTTTGACCTTTCAGAGCAGACC TATGACTTCTTGGGTGAAATGAGAAAGAATGCAGTGTGA |
Restriction Sites | Please inquire |
ACCN | NM_207181 |
OTI Disclaimer | Our molecular clone sequence data has been matched to the reference identifier above as a point of reference. Note that the complete sequence of our molecular clones may differ from the sequence published for this corresponding reference, e.g., by representing an alternative RNA splicing form or single nucleotide polymorphism (SNP). |
OTI Annotation | This TrueClone is provided through our Custom Cloning Process that includes sub-cloning into OriGene's pCMV6 vector and full sequencing to provide a non-variant match to the expected reference without frameshifts, and is delivered as lyophilized plasmid DNA. |
Product Components | The ORF clone is ion-exchange column purified and shipped in a 2D barcoded Matrix tube containing 10ug of transfection-ready, dried plasmid DNA (reconstitute with 100 ul of water). |
Reconstitution | 1. Centrifuge at 5,000xg for 5min. 2. Carefully open the tube and add 100ul of sterile water to dissolve the DNA. 3. Close the tube and incubate for 10 minutes at room temperature. 4. Briefly vortex the tube and then do a quick spin (less than 5000xg) to concentrate the liquid at the bottom. 5. Store the suspended plasmid at -20°C. The DNA is stable for at least one year from date of shipping when stored at -20°C. |
Note | Plasmids are not sterile. For experiments where strict sterility is required, filtration with 0.22um filter is required. |
Reference Data | |
RefSeq | NM_207181.1, NP_997064.1 |
RefSeq Size | 753 bp |
RefSeq ORF | 366 bp |
Locus ID | 4867 |
UniProt ID | O15259 |
Protein Families | Druggable Genome |
Gene 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] Transcript Variant: This variant (2) uses an alternate in-frame splice acceptor site in the mid-coding region, compared to variant 1, resulting in an isoform (2) that lacks a residue, compared to isoform 1. |
Documents
Product Manuals |
FAQs |
SDS |
Resources
Other Versions
SKU | Description | Size | Price |
---|---|---|---|
RC229355 | NPHP1 (Myc-DDK-tagged)-Human nephronophthisis 1 (juvenile) (NPHP1), transcript variant 2 |
CNY 5800.00 |
|
RC229355L3 | Lenti-ORF clone of NPHP1 (Myc-DDK-tagged)-Human nephronophthisis 1 (juvenile) (NPHP1), transcript variant 2 |
CNY 7700.00 |
|
RC229355L4 | Lenti-ORF clone of NPHP1 (mGFP-tagged)-Human nephronophthisis 1 (juvenile) (NPHP1), transcript variant 2 |
CNY 7700.00 |
|
RG229355 | NPHP1 (tGFP-tagged) - Human nephronophthisis 1 (juvenile) (NPHP1), transcript variant 2 |
CNY 6370.00 |
|
SC327990 | NPHP1 (untagged)-Human nephronophthisis 1 (juvenile) (NPHP1) transcript variant 2 |
CNY 14060.00 |
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