QuickView for angelman syndrome (gene)

Gene Symbol:

UBE3A Homo sapiens

Full name:

ubiquitin protein ligase E3A

Synonyms:

ANCR, AS, E6-AP, EPVE6AP, HPVE6A, ubiquitin-protein ligase E3A, CTCL tumor antigen se37-2, E6AP ubiquitin-protein ligase, HECT-type ubiquitin transferase E3A, human papilloma virus E6-associated protein, human papillomavirus E6-associated protein, oncogenic protein-associated protein E6-AP, renal carcinoma antigen NY-REN-54

Genomic Location:

Chr 15: 23133489-23235221

Description:

This gene encodes an E3 ubiquitin-protein ligase, part of the ubiquitin protein degradation system. This imprinted gene is maternally expressed in brain and biallelically expressed in other tissues. Maternally inherited deletion of this gene causes Angelman Syndrome, characterized by severe motor and intellectual retardation, ataxia, hypotonia, epi...

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This gene encodes an E3 ubiquitin-protein ligase, part of the ubiquitin protein degradation system. This imprinted gene is maternally expressed in brain and biallelically expressed in other tissues. Maternally inherited deletion of this gene causes Angelman Syndrome, characterized by severe motor and intellectual retardation, ataxia, hypotonia, epilepsy, absence of speech, and characteristic facies. The protein also interacts with the E6 protein of human papillomavirus types 16 and 18, resulting in ubiquitination and proteolysis of tumor protein p53. Alternative splicing of this gene results in three transcript variants encoding three isoforms with different N-termini. Additional transcript variants have been described, but their full length nature has not been determined.

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Orthologs:

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

External Links:

Entrez Gene

Transcription Factor
Binding Sites:

PR_Q2 ,  CTTGTAT_MIR381 ,  OCT1_07 ,  OCT1_05 ,  TGANTCA_AP1_C ,  GATA1_03 ,  TTANTCA_UNKNOWN ,  TTTTGAG_MIR373 ,  GATA_C ,  CATTGTYY_SOX9_B1 ,  AAAYWAACM_HFH4_01 ,  TTTGTAG_MIR520D ,  CAGTGTT_MIR141_MIR200A ,  ATGTACA_MIR493 ,  HNF1_C ,  CTTTGA_LEF1_Q2 ,  MYB_Q5_01 ,  GCCATNTTG_YY1_Q6 ,  GATA1_04 ,  TCF4_Q5 ,  AP1_Q6_01 ,  SOX9_B1 ,  YY1_Q6 ,  MEF2_01 ,  YY1_01 ,  AP1FJ_Q2 ,  EGR_Q6 ,  ATTCTTT_MIR186 ,  GTAAGAT_MIR200A ,  GTTTGTT_MIR495 ,  GGGCGGR_SP1_Q6 ,  GACAATC_MIR219 ,  AP1_Q2_01 ,  AAGWWRNYGGC_UNKNOWN ,  CCAWNWWNNNGGC_UNKNOWN ,  HFH4_01 ,  AP1_Q4 ,  GACAGGG_MIR339 ,  GTGCCTT_MIR506 ,  TTGTTT_FOXO4_01 ,  GR_01 ,  GATA1_05 ,  SREBP_Q3 ,  TGCACTT_MIR519C_MIR519B_MIR519A ,  AP1_Q2 ,  TGACAGNY_MEIS1_01 ,  GRE_C ,  MMEF2_Q6 ,  ACCATTT_MIR522 ,  GGGTGGRR_PAX4_03 ,  MYB_Q3

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miRNA binding sites
(Source: TargetScan):

Predicted Gene Targets for miR-186 ,  Predicted Gene Targets for miR-141 ,  Predicted Gene Targets for miR-218 ,  Predicted Gene Targets for miR-219 ,  Predicted Gene Targets for miR-26 ,  Predicted Gene Targets for miR-339 ,  Predicted Gene Targets for miR-381 ,  Predicted Gene Targets for miR-93 ,  Predicted Gene Targets for miR-124a ,  Predicted Gene Targets for miR-140 ,  Predicted Gene Targets for miR-188 ,  Predicted Gene Targets for miR-375 ,  Predicted Gene Targets for miR-493-5p ,  Predicted Gene Targets for miR-495 ,  Predicted Gene Targets for miR-378

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Cytogenetic Map:

15q11.2

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