HERC1 (HECT and RLD domain containing E3 ubiquitin protein ligase family member 1)

2006-10-01  

Identity

HGNC
LOCATION
15q22.31
LOCUSID
ALIAS
MDFPMR,p532,p619
FUSION GENES

Other Information

Locus ID:

NCBI: 8925
MIM: 605109
HGNC: 4867
Ensembl: ENSG00000103657

Variants:

dbSNP: 8925
ClinVar: 8925
TCGA: ENSG00000103657
COSMIC: HERC1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000103657ENST00000443617Q15751
ENSG00000103657ENST00000443617A0A024R5W0
ENSG00000103657ENST00000558324H0YLG2
ENSG00000103657ENST00000558532H0YL74
ENSG00000103657ENST00000559715H0YK45
ENSG00000103657ENST00000560316H0YL07
ENSG00000103657ENST00000560462H0YKW7
ENSG00000103657ENST00000560897H0YK60
ENSG00000103657ENST00000561359H0YMH0
ENSG00000103657ENST00000561400H0YNB1

Expression (GTEx)

0
5
10
15
20
25
30
35
40

Pathways

PathwaySourceExternal ID
Ubiquitin mediated proteolysisKEGGko04120
Ubiquitin mediated proteolysisKEGGhsa04120
Immune SystemREACTOMER-HSA-168256
Adaptive Immune SystemREACTOMER-HSA-1280218
Class I MHC mediated antigen processing & presentationREACTOMER-HSA-983169
Antigen processing: Ubiquitination & Proteasome degradationREACTOMER-HSA-983168

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
254085012015Resistance to UV-induced apoptosis by β-HPV5 E6 involves targeting of activated BAK for proteolysis by recruitment of the HERC1 ubiquitin ligase.18
126509302003Interaction between HERC1 and M2-type pyruvate kinase.10
156423422005Requirement of phosphatidylinositol-4,5-bisphosphate for HERC1-mediated guanine nucleotide release from ARF proteins.6
261381172015Biallelic HERC1 mutations in a syndromic form of overgrowth and intellectual disability.6
271089992016A splice site mutation in HERC1 leads to syndromic intellectual disability with macrocephaly and facial dysmorphism: Further delineation of the phenotypic spectrum.4
149603112004The giant protein HERC1 is recruited to aluminum fluoride-induced actin-rich surface protrusions in HeLa cells.3
196184022009HERC1 polymorphisms: population-specific variations in haplotype composition.1
196184022009HERC1 polymorphisms: population-specific variations in haplotype composition.1

Citation

Dessen P

HERC1 (HECT and RLD domain containing E3 ubiquitin protein ligase family member 1)

Atlas Genet Cytogenet Oncol Haematol. 2006-10-01

Online version: http://atlasgeneticsoncology.org/gene/43306/herc1