Molecular weight (DA)
481kD
Immunogen
Synthesized peptide derived from part region of human protein
Specificity
HUWE1 Polyclonal Antibody detects endogenous levels of protein.
Formulation
Liquid in PBS containing 50% glycerol, and 0.02% sodium azide.
Dilution rate
IHC-p 1:50-300. IF 1:50-200
Purification process (Immunogen)
The antibody was affinity-purified from rabbit antiserum by affinity-chromatography using epitope-specific immunogen.
Background
This gene encodes a protein containing a C-terminal HECT (E6AP type E3 ubiquitin protein ligase) domain that functions as an E3 ubiquitin ligase. The encoded protein is required for the ubiquitination and subsequent degradation of the anti-apoptotic protein Mcl1 (myeloid cell leukemia sequence 1 (BCL2-related)). This protein also ubiquitinates the p53 tumor suppressor, core histones, and DNA polymerase beta. Mutations in this gene are associated with Turner type X-linked syndromic mental retardation. [provided by RefSeq, Aug 2013],
Function
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 macrocep
Gene Name
HUWE1 KIAA0312 KIAA1578 UREB1 HSPC272
Protein name
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) (L
Fields
>>Ubiquitin mediated proteolysis
Human protein sequence Database
Q7Z6Z7
Mouse protein sequence database
Q7TMY8
Rat protein sequence database
P51593
Cellular localization
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). .
Tissue expression
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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