ATXN3 report

I. Expression across cell types

II. Expression across tissues

III. Associated gene sets

GO_0071108Biological processprotein K48-linked deubiquitination
GO_0034605Biological processcellular response to heat
GO_0006289Biological processnucleotide-excision repair
GO_0006511Biological processubiquitin-dependent protein catabolic process
GO_0071218Biological processcellular response to misfolded protein
GO_0010810Biological processregulation of cell-substrate adhesion
GO_1904327Biological processprotein localization to cytosolic proteasome complex
GO_0035520Biological processmonoubiquitinated protein deubiquitination
GO_0030036Biological processactin cytoskeleton organization
GO_0070536Biological processprotein K63-linked deubiquitination
GO_0006515Biological processprotein quality control for misfolded or incompletely synthesized proteins
GO_2000060Biological processpositive regulation of ubiquitin-dependent protein catabolic process
GO_0007268Biological processchemical synaptic transmission
GO_0045104Biological processintermediate filament cytoskeleton organization
GO_0034198Biological processcellular response to amino acid starvation
GO_0000226Biological processmicrotubule cytoskeleton organization
GO_0016579Biological processprotein deubiquitination
GO_1904294Biological processpositive regulation of ERAD pathway
GO_1904262Biological processnegative regulation of TORC1 signaling
GO_0007399Biological processnervous system development
GO_0043161Biological processproteasome-mediated ubiquitin-dependent protein catabolic process
GO_0042405Cellular componentnuclear inclusion body
GO_0005730Cellular componentnucleolus
GO_0005886Cellular componentplasma membrane
GO_0005789Cellular componentendoplasmic reticulum membrane
GO_0031966Cellular componentmitochondrial membrane
GO_0005654Cellular componentnucleoplasm
GO_0016363Cellular componentnuclear matrix
GO_0005829Cellular componentcytosol
GO_0045202Cellular componentsynapse
GO_0005759Cellular componentmitochondrial matrix
GO_0005737Cellular componentcytoplasm
GO_0005765Cellular componentlysosomal membrane
GO_0005634Cellular componentnucleus
GO_0004843Molecular functioncysteine-type deubiquitinase activity
GO_0031625Molecular functionubiquitin protein ligase binding
GO_0061578Molecular functionK63-linked deubiquitinase activity
GO_1990380Molecular functionK48-linked deubiquitinase activity
GO_0051117Molecular functionATPase binding
GO_0005515Molecular functionprotein binding

IV. Literature review

[source]
Gene nameATXN3
Protein nameubiquitinyl hydrolase 1 (EC 3.4.19.12)
Ataxin 3 variant h
Ataxin-3 (EC 3.4.19.12) (Machado-Joseph disease protein 1) (Spinocerebellar ataxia type 3 protein)
Ataxin 3 variant an
Ataxin 3
Ataxin 3 variant e
SynonymsATX3
MJD
SCA3
MJD1
DescriptionFUNCTION: Deubiquitinating enzyme involved in protein homeostasis maintenance, transcription, cytoskeleton regulation, myogenesis and degradation of misfolded chaperone substrates . Binds long polyubiquitin chains and trims them, while it has weak or no activity against chains of 4 or less ubiquitins . Involved in degradation of misfolded chaperone substrates via its interaction with STUB1/CHIP: recruited to monoubiquitinated STUB1/CHIP, and restricts the length of ubiquitin chain attached to STUB1/CHIP substrates and preventing further chain extension (By similarity). Interacts with key regulators of transcription and represses transcription: acts as a histone-binding protein that regulates transcription . Acts as a negative regulator of mTORC1 signaling in response to amino acid deprivation by mediating deubiquitination of RHEB, thereby promoting RHEB inactivation by the TSC-TBC complex . Regulates autophagy via the deubiquitination of 'Lys-402' of BECN1 leading to the stabilization of BECN1 . .

AccessionsD3VVA7
D3VVB8
D3VVF1
D3VVH1
D3VVM6
D3VVI7
D3VVF5
ENST00000554350.5
D3VVC3
D3VVB6
ENST00000556958.5
ENST00000526872.3
A0A2R8Y888
D3VVN4
D3VVL6
D3VVB1
D3VVI6
ENST00000556898.5
D3VVM4
D3VVJ5
D3VVN9
D3VVD6
D3VVE6
D3VVG6
D3VVK7
D3VVA8
D3VVH4
D3VVP2
G3V3A6
ENST00000556315.6
D3VVC6
G3V4U9
D3VVI1
D3VVJ3
F5H211
D3VVN1
D3VVP0
ENST00000340660.10 [P54252-3]
D3VVN0
D3VVN2
D3VVG4
A0A2R8Y3X7
D3VVL1
D3VVR7
D3VVR9
D3VVJ0
D3VVS9
D3VVB3
D3VVJ1
D3VVM3
ENST00000429774.6
D3VVE0
D3VVL8
ENST00000557311.6
ENST00000545170.5
D3VVQ3
D3VVK4
ENST00000515746.6
D3VVB2
C9JQV6
D3VVR0
D3VVQ6
D3VVE5
D3VVR3
D3VVH8
D3VVI2
D3VVE4
D3VVT1
D3VVL0
D6R9I5
G3V2G1
D3VVG9
ENST00000556082.6
D3VVQ2
D3VVN5
G3V390
D3VVN7
G3V5H3
D3VVP5
D3VVL9
D3VVB4
ENST00000555816.5
D3VVH2
D3VVS2
D3VVI5
D3VVF6
G3V3T6
A0A0A0MS38
D3VVT4
D3VVB0
D3VVA9
D3VVL3
E9PJN5
D3VVP1
D3VVJ7
D3VVK3
ENST00000556288.5
D3VVF3
D3VVF4
D3VVJ2
D3VVE1
D3VVK2
D3VVF8
ENST00000359366.10
D3VVS8
G3V4F4
D3VVG7
D3VVQ5
D3VVG2
D3VVI3
ENST00000553491.5
D3VVE8
D3VVR8
D3VVJ8
D3VVH7
D3VVT6
D3VVF9
D3VVD4
D3VVS0
D3VVK0
D3VVP8
D3VVF7
ENST00000503767.5 [P54252-4]
D3VVQ8
D3VVR6
B9W0P3
D3VVE7
D3VVQ0
D3VVE3
ENST00000556374.5
D3VVG3
D3VVD2
Q4VBR4
D3VVS1
D3VVP6
ENST00000646485.1
ENST00000554672.6
D3VVK1
D3VVQ4
ENST00000556671.5
D3VVQ7
G3V3T0
G3V4F5
D3VVI9
D3VVG1
D3VVD3
D3VVM9
D3VVB9
D3VVR5
ENST00000553570.5
D3VVM5
ENST00000532032.5 [P54252-1]
D3VVE2
D3VVM0
G3V4B1
D3VVD5
D3VVC7
D3VVP3
D3VVH9
D3VVB5
ENST00000647161.1
D3VVL2
D3VVC8
D3VVD1
D3VVD9
D3VVT0
D3VVC0
D3VVL5
D3VVC1
D3VVF2
D3VVF0
D3VVM2
ENST00000556220.5
D3VVM7
ENST00000502250.5 [P54252-5]
D3VVD7
D3VVR1
D3VVN3
ENST00000556274.5
D3VVP7
D3VVM1
D3VVH6
D3VVQ9
D3VVJ4
S4R399
D3VVC2
D3VVR2
D3VVJ9
D3VVR4
D3VVN6
D3VVH0
D3VVG8
ENST00000553488.5
D3VVE9
D3VVC9
D3VVQ1
D3VVS7
D3VVD8
D3VVT2
D3VVI0
D3VVH5
P54252
D3VVJ6
D3VVI4
D3VVK5
D3VVC5
D3VVI8
D3VVT5
D3VVM8
G3V3R7
ENST00000557030.6
D3VVS4
D3VVP4
D3VVG0
ENST00000554592.5
ENST00000555381.5
ENST00000554994.5
D3VVK9
D3VVD0
G3V2G2
D3VVG5
D3VVS6
ENST00000506466.5
ENST00000554673.5
G3V328
D3VVS5
D3VVL7
D3VVC4
ENST00000644486.2 [P54252-2]
D3VVS3
D3VVK8
D3VVK6
G3V526
D3VVN8
G3V3S5
D3VVL4
D3VVH3
ENST00000393287.9
D3VVP9