QuickView for KLHL3 (gene)

Gene Symbol:

KLHL3 Homo sapiens

Full name:

kelch like family member 3

Synonyms:

PHA2D, kelch-like protein 3

Genomic Location:

Chr 5: 136981088-137099362

Description:

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 ubiquiti...

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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.

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Orthologs:

Mus musculus ,  Rattus norvegicus ,  D. melanogaster ,  C. elegans ,  Macaca mulatta ,  Gallus gallus ,  Pan troglodytes ,  Canis lupus familiaris ,  Bos taurus ,  Danio rerio

External Links:

Entrez Gene

Transcription Factor
Binding Sites:

GTATTAT_MIR3693P ,  GTGCCAT_MIR183 ,  RYTTCCTG_ETS2_B ,  NFAT_Q6 ,  TGANNYRGCA_TCF11MAFG_01 ,  GCAAGGA_MIR502 ,  AAAYWAACM_HFH4_01 ,  AGCACTT_MIR93_MIR302A_MIR302B_MIR302C_MIR302D_MIR372_MIR373_MIR520E_MIR520A_MIR526B_MIR520B_MIR520C_MIR520D ,  CTATGCA_MIR153 ,  CAGCACT_MIR5123P ,  STAT6_01 ,  TAGCTTT_MIR9 ,  GGGAGGRR_MAZ_Q6 ,  AR_Q6 ,  TTGGGAG_MIR150 ,  CAGGTG_E12_Q6 ,  ACCAAAG_MIR9 ,  STAT5A_03 ,  SRF_Q4 ,  GFI1_01 ,  TTGTTT_FOXO4_01 ,  AAAYRNCTG_UNKNOWN ,  CAGTATT_MIR200B_MIR200C_MIR429 ,  GAGCCAG_MIR149 ,  RGAGGAARY_PU1_Q6 ,  CTGAGCC_MIR24 ,  AACTTT_UNKNOWN ,  PAX2_02 ,  ACACTGG_MIR199A_MIR199B

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miRNA binding sites
(Source: TargetScan):

Predicted Gene Targets for miR-150 ,  Predicted Gene Targets for miR-153 ,  Predicted Gene Targets for miR-183 ,  Predicted Gene Targets for miR-186 ,  Predicted Gene Targets for miR-199 ,  Predicted Gene Targets for miR-200b ,  Predicted Gene Targets for miR-24 ,  Predicted Gene Targets for miR-369-3p ,  Predicted Gene Targets for miR-377 ,  Predicted Gene Targets for miR-381 ,  Predicted Gene Targets for miR-448 ,  Predicted Gene Targets for miR-9 ,  Predicted Gene Targets for miR-93 ,  Predicted Gene Targets for miR-149

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Cytogenetic Map:

5q31.2

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