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

2006-10-01  

Identity

HGNC
HERC1
LOCATION
15q22.31
LOCUSID
8925
ALIAS
MDFPMR,p532,p619
FUSION GENES
Show Gene Fusions

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
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

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
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
379327662023CircHERC1 promotes non-small cell lung cancer cell progression by sequestering FOXO1 in the cytoplasm and regulating the miR-142-3p-HMGB1 axis.6
379327662023CircHERC1 promotes non-small cell lung cancer cell progression by sequestering FOXO1 in the cytoplasm and regulating the miR-142-3p-HMGB1 axis.6
349907972022The Herc1 gene in neurobiology.2
349907972022The Herc1 gene in neurobiology.2
344466012021Identification of a quality-control factor that monitors failures during proteasome assembly.12
344466012021Identification of a quality-control factor that monitors failures during proteasome assembly.12
319650022020The ubiquitin ligase HERC1 regulates cell migration via RAF-dependent regulation of MKK3/p38 signaling.12
329215822020A new homozygous HERC1 gain-of-function variant in MDFPMR syndrome leads to mTORC1 hyperactivation and reduced autophagy during cell catabolism.4
319650022020The ubiquitin ligase HERC1 regulates cell migration via RAF-dependent regulation of MKK3/p38 signaling.12
329215822020A new homozygous HERC1 gain-of-function variant in MDFPMR syndrome leads to mTORC1 hyperactivation and reduced autophagy during cell catabolism.4
271089992016A splice site mutation in HERC1 leads to syndromic intellectual disability with macrocephaly and facial dysmorphism: Further delineation of the phenotypic spectrum.17
271089992016A splice site mutation in HERC1 leads to syndromic intellectual disability with macrocephaly and facial dysmorphism: Further delineation of the phenotypic spectrum.17
254085012015Resistance to UV-induced apoptosis by β-HPV5 E6 involves targeting of activated BAK for proteolysis by recruitment of the HERC1 ubiquitin ligase.25
261381172015Biallelic HERC1 mutations in a syndromic form of overgrowth and intellectual disability.22
254085012015Resistance to UV-induced apoptosis by β-HPV5 E6 involves targeting of activated BAK for proteolysis by recruitment of the HERC1 ubiquitin ligase.25

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-(hect-and-rld-domain-containing-e3-ubiquitin-protein-ligase-family-member-1)