SHARPIN (SHANK associated RH domain interactor)

2010-10-01  

Identity

HGNC
SHARPIN
LOCATION
8q24.3
LOCUSID
81858
ALIAS
SIPL1

Other Information

Locus ID:

NCBI: 81858
MIM: 611885
HGNC: 25321
Ensembl: ENSG00000179526

Variants:

dbSNP: 81858
ClinVar: 81858
TCGA: ENSG00000179526
COSMIC: SHARPIN

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000179526ENST00000359551Q9H0F6
ENSG00000179526ENST00000398712Q9H0F6
ENSG00000179526ENST00000532536H0YCU2

Expression (GTEx)

0
50
100
150
200
250
300
350
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
NOD-like receptor signaling pathwayKEGGko04621
NOD-like receptor signaling pathwayKEGGhsa04621
Neuronal SystemREACTOMER-HSA-112316
Signal TransductionREACTOMER-HSA-162582
Death Receptor SignallingREACTOMER-HSA-73887
TNF signalingREACTOMER-HSA-75893
TNFR1-induced NFkappaB signaling pathwayREACTOMER-HSA-5357956
Regulation of TNFR1 signalingREACTOMER-HSA-5357905
Protein-protein interactions at synapsesREACTOMER-HSA-6794362
Interactions of neurexins and neuroligins at synapsesREACTOMER-HSA-6794361

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
386095462024Biallelic human SHARPIN loss of function induces autoinflammation and immunodeficiency.0
386095462024Biallelic human SHARPIN loss of function induces autoinflammation and immunodeficiency.0
379768372023Mechanistic insights into the homo-dimerization of HOIL-1L and SHARPIN.1
379768372023Mechanistic insights into the homo-dimerization of HOIL-1L and SHARPIN.1
347373882022A functional variant of SHARPIN confers increased risk of late-onset Alzheimer's disease.7
349654682022Biochemical and functional characterization of the N-terminal ubiquitin-like domain of human SHARPIN.0
359686032022SHARPIN promotes cell proliferation of cholangiocarcinoma and inhibits ferroptosis via p53/SLC7A11/GPX4 signaling.28
347373882022A functional variant of SHARPIN confers increased risk of late-onset Alzheimer's disease.7
349654682022Biochemical and functional characterization of the N-terminal ubiquitin-like domain of human SHARPIN.0
359686032022SHARPIN promotes cell proliferation of cholangiocarcinoma and inhibits ferroptosis via p53/SLC7A11/GPX4 signaling.28
335480832021Downregulation of SHANK-associated RH domain-interacting protein elevates interleukin-33 expression by stimulating the Janus kinase 2/signal transducer and activator of transcription signalling pathway in HaCaT cells.1
343395582021SHARPIN regulates the development of clear cell renal cell carcinoma by promoting von Hippel-Lindau protein ubiquitination and degradation.7
347856432021A missense variant in SHARPIN mediates Alzheimer's disease-specific brain damages.8
335480832021Downregulation of SHANK-associated RH domain-interacting protein elevates interleukin-33 expression by stimulating the Janus kinase 2/signal transducer and activator of transcription signalling pathway in HaCaT cells.1
343395582021SHARPIN regulates the development of clear cell renal cell carcinoma by promoting von Hippel-Lindau protein ubiquitination and degradation.7

Citation

Dessen P

SHARPIN (SHANK associated RH domain interactor)

Atlas Genet Cytogenet Oncol Haematol. 2010-10-01

Online version: http://atlasgeneticsoncology.org/gene/51680