HECTD1 (HECT domain E3 ubiquitin protein ligase 1)

2014-11-01  

Identity

HGNC
HECTD1
LOCATION
14q12
LOCUSID
25831
ALIAS
EULIR
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 25831
MIM: 618649
HGNC: 20157
Ensembl: ENSG00000092148

Variants:

dbSNP: 25831
ClinVar: 25831
TCGA: ENSG00000092148
COSMIC: HECTD1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000092148ENST00000399332Q9ULT8
ENSG00000092148ENST00000553700Q9ULT8
ENSG00000092148ENST00000553957H0YJP0
ENSG00000092148ENST00000554471A0A087WVU6
ENSG00000092148ENST00000554882H0YJD4
ENSG00000092148ENST00000555915H0YJ72
ENSG00000092148ENST00000556224G3V4V5
ENSG00000092148ENST00000557369H0YJV8
ENSG00000092148ENST00000611816A0A087X2H1

Expression (GTEx)

0
10
20
30
40
50
60
70
80
90
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
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
appendix
spleen
lymph node
tonsil

References

Pubmed IDYearTitleCitations
379937502024Nucleoporin 93, a new substrate of the E3 ubiquitin protein ligase HECTD1, promotes esophageal squamous cell carcinoma progression.0
384512912024Identification and functional analysis of rare HECTD1 missense variants in human neural tube defects.0
379937502024Nucleoporin 93, a new substrate of the E3 ubiquitin protein ligase HECTD1, promotes esophageal squamous cell carcinoma progression.0
384512912024Identification and functional analysis of rare HECTD1 missense variants in human neural tube defects.0
359152032022The E3 ubiquitin ligase HECTD1 contributes to cell proliferation through an effect on mitosis.6
359152032022The E3 ubiquitin ligase HECTD1 contributes to cell proliferation through an effect on mitosis.6
335613152021Circular RNA circHECTD1 facilitates glioma progression by regulating the miR-296-3p/SLC10A7 axis.9
338537582021The deubiquitinase TRABID stabilizes the K29/K48-specific E3 ubiquitin ligase HECTD1.12
335613152021Circular RNA circHECTD1 facilitates glioma progression by regulating the miR-296-3p/SLC10A7 axis.9
338537582021The deubiquitinase TRABID stabilizes the K29/K48-specific E3 ubiquitin ligase HECTD1.12
317996322020HECTD1 promotes base excision repair in nucleosomes through chromatin remodelling.12
323195762020HECTD1 regulates the expression of SNAIL: Implications for epithelial‑mesenchymal transition.14
326757462020CircHECTD1 up-regulates mucin 1 expression to accelerate hepatocellular carcinoma development by targeting microRNA-485-5p via a competing endogenous RNA mechanism.11
317996322020HECTD1 promotes base excision repair in nucleosomes through chromatin remodelling.12
323195762020HECTD1 regulates the expression of SNAIL: Implications for epithelial‑mesenchymal transition.14

Citation

Dessen P

HECTD1 (HECT domain E3 ubiquitin protein ligase 1)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/64227/css/js/web-card-gene.js