功能： disease:A chromosomal microduplication involving HUWE1 and HSD17B10 is the cause of mental retardation X-linked type 17 (MRX17) [MIM:300705]; also known as mental retardation X-linked type 31 (MRX31). Mental retardation is characterized by significantly sub-average general intellectual functioning associated with impairments in adaptative behavior and manifested during the developmental period. In contrast to syndromic or specific X-linked mental retardation which also present with associated physical, neurological and/or psychiatric manifestations, intellectual deficiency is the only primary symptom of non-syndromic X-linked mental retardation.,disease:Defects in HUWE1 are the cause of mental retardation syndromic X-linked Turner type (MRXST) [MIM:300706]; also known as mental retardation and macrocephaly syndrome. MRXST shows clinical variability. Associated phenotypes include macrocephaly and variable contractures.,domain:The HECT domain mediates inhibition of the transcriptional activity of p53.,function:E3 ubiquitin-protein ligase which mediates ubiquitination and subsequent proteasomal degradation of target proteins. Regulates apoptosis by catalyzing the polyubiquitination and degradation of MCL1. Also ubiquitinates the p53 tumor suppressor and core histones including H1, H2A, H2B, H3 and H4. Binds to an upstream initiator-like sequence in the preprodynorphin gene. Regulates neural differentiation and proliferation by catalyzing the polyubiquitination and degradation of MYCN. May regulate abundance of CDC6 after DNA damage by polyubiquitinating and targeting CDC6 to degradation.,pathway:Protein modification; protein ubiquitination.,PTM:Phosphorylated on tyrosine; phosphorylation is probably required for its ability to inhibit TP53 transactivation.,PTM:Phosphorylated upon DNA damage, probably by ATM or ATR.,sequence caution:Chimeric cDNA, contains the C-terminal part of ATP5I.,similarity:Belongs to the TOM1/PTR1 family.,similarity:Contains 1 HECT (E6AP-type E3 ubiquitin-protein ligase) domain.,similarity:Contains 1 UBA domain.,similarity:Contains 1 UIM (ubiquitin-interacting motif) repeat.,similarity:Contains 1 WWE domain.,subcellular location:Mainly expressed in the cytoplasm of most tissues, except in the nucleus of spermatogonia, primary spermatocytes and neuronal cells (By similarity). Predominantly cytosolic or perinuclear in some colorectal carcinoma cells.,subunit:Interacts with isoform p14ARF of CDKN2A which strongly inhibits HUWE1 ubiquitin ligase activity. Interacts with MYCN and CDC6.,tissue specificity:Weakly expressed in heart, brain and placenta but not in other tissues. Expressed in a number of cell lines, predominantly in those from colorectal carcinomas.,
相关产品： RS0001,RS0002,YM3028,YM3029
细胞定位： Cytoplasm . Nucleus . Mitochondrion . Mainly expressed in the cytoplasm of most tissues, except in the nucleus of spermatogonia, primary spermatocytes and neuronal cells (By similarity). Recruited to mitochondria following interaction with AMBRA1 (PubMed:30217973). .
组织表达： Weakly expressed in heart, brain and placenta but not in other tissues. Expressed in a number of cell lines, predominantly in those from colorectal carcinomas.
科研货号： PLA007684
HUWE1 Polyclonal Antibody
Catalog NoPLA007684
Product information
基因名称： HUWE1 KIAA0312 KIAA1578 UREB1 HSPC272
蛋白名称： E3 ubiquitin-protein ligase HUWE1 (EC 6.3.2.-) (ARF-binding protein 1) (ARF-BP1) (HECT, UBA and WWE domain-containing protein 1) (Homologous to E6AP carboxyl terminus homologous protein 9) (HectH9) (Large structure of UREB1) (LASU1) (Mcl-1 ubiquitin ligase E3) (Mule) (Upstream regulatory element-binding protein 1) (URE-B1) (URE-binding protein 1)
功能： disease:A chromosomal microduplication involving HUWE1 and HSD17B10 is the cause of mental retardation X-linked type 17 (MRX17) [MIM:300705]; also known as mental retardation X-linked type 31 (MRX31). Mental retardation is characterized by significantly sub-average general intellectual functioning associated with impairments in adaptative behavior and manifested during the developmental period. In contrast to syndromic or specific X-linked mental retardation which also present with associated physical, neurological and/or psychiatric manifestations, intellectual deficiency is the only primary symptom of non-syndromic X-linked mental retardation.,disease:Defects in HUWE1 are the cause of mental retardation syndromic X-linked Turner type (MRXST) [MIM:300706]; also known as mental retardation and macrocephaly syndrome. MRXST shows clinical variability. Associated phenotypes include macrocephaly and variable contractures.,domain:The HECT domain mediates inhibition of the transcriptional activity of p53.,function:E3 ubiquitin-protein ligase which mediates ubiquitination and subsequent proteasomal degradation of target proteins. Regulates apoptosis by catalyzing the polyubiquitination and degradation of MCL1. Also ubiquitinates the p53 tumor suppressor and core histones including H1, H2A, H2B, H3 and H4. Binds to an upstream initiator-like sequence in the preprodynorphin gene. Regulates neural differentiation and proliferation by catalyzing the polyubiquitination and degradation of MYCN. May regulate abundance of CDC6 after DNA damage by polyubiquitinating and targeting CDC6 to degradation.,pathway:Protein modification; protein ubiquitination.,PTM:Phosphorylated on tyrosine; phosphorylation is probably required for its ability to inhibit TP53 transactivation.,PTM:Phosphorylated upon DNA damage, probably by ATM or ATR.,sequence caution:Chimeric cDNA, contains the C-terminal part of ATP5I.,similarity:Belongs to the TOM1/PTR1 family.,similarity:Contains 1 HECT (E6AP-type E3 ubiquitin-protein ligase) domain.,similarity:Contains 1 UBA domain.,similarity:Contains 1 UIM (ubiquitin-interacting motif) repeat.,similarity:Contains 1 WWE domain.,subcellular location:Mainly expressed in the cytoplasm of most tissues, except in the nucleus of spermatogonia, primary spermatocytes and neuronal cells (By similarity). Predominantly cytosolic or perinuclear in some colorectal carcinoma cells.,subunit:Interacts with isoform p14ARF of CDKN2A which strongly inhibits HUWE1 ubiquitin ligase activity. Interacts with MYCN and CDC6.,tissue specificity:Weakly expressed in heart, brain and placenta but not in other tissues. Expressed in a number of cell lines, predominantly in those from colorectal carcinomas.,
相关产品： RS0001,RS0002,YM3028,YM3029
细胞定位： Cytoplasm . Nucleus . Mitochondrion . Mainly expressed in the cytoplasm of most tissues, except in the nucleus of spermatogonia, primary spermatocytes and neuronal cells (By similarity). Recruited to mitochondria following interaction with AMBRA1 (PubMed:30217973). .
组织表达： Weakly expressed in heart, brain and placenta but not in other tissues. Expressed in a number of cell lines, predominantly in those from colorectal carcinomas.
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