KLHL3 (NM_001257194) Human Untagged Clone
CAT#: SC330575
KLHL3 (untagged) - Homo sapiens kelch-like family member 3 (KLHL3), transcript variant 2
"NM_001257194" in other vectors (2)
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Specifications
Product Data | |
Type | Human Untagged Clone |
Tag | Tag Free |
Symbol | KLHL3 |
Synonyms | PHA2D |
Vector | pCMV6 series |
Sequence Data |
>NCBI ORF sequence for NM_001257194, the custom clone sequence may differ by one or more nucleotides
ATGGGGAAAGCATTCAAGGTTATGAATGAACTGCGGAGTAAACAGCTGTTGTGTGACGTGATGATTGTGG CAGAAGATGTCGAGATAGAAGCCCACCGTGTGGTCCTGGCAGCCTGCAGCCCCTACTTCTGTGCGATGTT CACAGGTGACATGTCTGAGAGTAAAGCCAAAAAGATAGAAATCAAGGACGTGGATGGGCAGACGCTGAGT AAGCTGATTGACTACATCTATACTGCTGAAATCGAGGTGACTGAAGAGAATGTCCAGGTGCTGCTCCCGG CAGCCAGCTTGCTGCAGCTCATGGATGTTCGGCAGAACTGCTGTGACTTCCTGCAGTCTCAGTTGCATCC CACCAATTGCCTGGGCATCCGTGCATTTGCAGATGTACACACCTGCACTGACCTTCTGCAGCAGGCCAAT GCCTACGCAGAGCAGCACTTTCCAGAGGTGATGCTAGGAGAAGAATTTCTTAGCCTGAGTCTGGACCAGG TGTGCAGCTTGATATCCAGCGACAAGCTGACCGTTTCTTCAGAAGAGAAGGTGTTTGAAGCTGTGATCTC ATGGATCAATTATGAGAAAGAAACCCGTTTAGAGCACATGGCAAAGCTGATGGAACATGTCCGACTTCCT CTCTTACCTAGGGACTACCTAGTCCAAACGGTTGAAGAAGAAGCTTTGATAAAGAATAACAACACCTGTA AAGACTTCCTCATTGAGGCCATGAAATACCATCTCCTCCCTCTGGATCAGAGACTATTGATTAAGAACCC AAGGACCAAGCCCAGGACTCCAGTCAGCCTTCCCAAGGTCATGATTGTGGTTGGCGGCCAGGCACCCAAG GCAATCCGCAGTGTGGAGTGCTATGATTTCGAGGAGGACCGGTGGGATCAGATTGCTGAGCTTCCTTCCA GAAGATGCAGAGCAGGTGTGGTGTTCATGGCTGGCCACGTGTATGCCGTGGGAGGGTTTAATGGCTCACT GCGGGTGCGGACAGTGGATGTGTATGACGGCGTGAAGGACCAGTGGACGTCCATTGCCAGCATGCAGGAG CGCCGGAGCACACTGGGCGCAGCGGTGCTCAATGACTTGCTCTACGCAGTGGGAGGCTTTGATGGCAGTA CTGGCCTAGCATCGGTGGAAGCCTACAGCTACAAGACCAACGAGTGGTTCTTTGTGGCCCCGATGAACAC GCGGCGGAGCAGTGTGGGTGTGGGCGTTGTGGAGGGGAAGCTATATGCTGTTGGGGGTTATGATGGAGCT TCCCGCCAGTGTCTGAGCACTGTGGAGCAGTACAACCCAGCGACCAATGAATGGATATACGTGGCGGACA TGAGCACCCGCCGCAGTGGCGCAGGGGTTGGAGTGCTTAGCGGACAGCTGTACGCCACAGGTGGGCATGA TGGGCCTTTGGTGAGGAAGAGCGTTGAGGTTTACGATCCTGGAACAAATACCTGGAAGCAAGTGGCAGAC ATGAACATGTGCCGGCGCAACGCAGGGGTCTGTGCAGTAAATGGGCTCCTGTATGTGGTTGGAGGGGATG ATGGATCCTGCAACTTGGCTTCGGTGGAGTACTACAATCCTGTCACTGACAAATGGACGCTGCTTCCAAC GAACATGAGCACGGGGCGGAGCTATGCAGGTGTTGCCGTGATTCACAAGTCCTTGTGA |
Restriction Sites | SgfI-MluI |
ACCN | NM_001257194 |
ORF Size | 1668 bp |
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). |
Reference Data | |
RefSeq | NM_001257194.1, NP_001244123.1 |
RefSeq Size | 6981 |
RefSeq ORF | 1668 |
Locus ID | 26249 |
Gene Summary | This gene is ubiquitously expressed and encodes a full-length protein which has an N-terminal BTB domain followed by a BACK domain and six kelch-like repeats in the C-terminus. These kelch-like repeats promote substrate ubiquitination of bound proteins via interaction of the BTB domain with the CUL3 (cullin 3) component of a cullin-RING E3 ubiquitin ligase (CRL) complex. Muatations in this gene cause pseudohypoaldosteronism type IID (PHA2D); a rare Mendelian syndrome featuring hypertension, hyperkalaemia and metabolic acidosis. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Mar 2012] Transcript Variant: This variant (2) lacks a 5' coding exon and has an alternate 5' exon which results in the use of a downstream in-frame start codon, compared to variant 1. These differences result in a protein (isoform 2; also known as KLHL3b) with a shorter N-terminus, compared to isoform 1. Sequence Note: This RefSeq record was created from transcript and genomic sequence data to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on transcript alignments. |
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