RNF170
entrez
81790
canonical
uniprot
Q96K19
canonical
ensembl
ENSG00000120925
resolver
ensp
ENSP00000325969
resolver
ensp
ENSP00000326138
resolver
ensp
ENSP00000434797
resolver
ensp
ENSP00000435782
resolver
ensp
ENSP00000445725
resolver
ensp
ENSP00000532813
resolver
ensp
ENSP00000532814
resolver
ensp
ENSP00000532818
resolver
ensp
ENSP00000532820
resolver
ensp
ENSP00000639293
resolver
ensp
ENSP00000668337
resolver
ensp
ENSP00000668339
resolver
genesymbol
RNF170
resolver
hgnc
HGNC:25358
resolver
uniprot
D3DSY6
resolver
uniprot
E9PIL4
resolver
uniprot
Q7Z483
resolver
uniprot
Q86YC0
resolver
uniprot
Q8IXR7
resolver
uniprot
Q8N2B5
resolver
uniprot
Q8N5G9
resolver
uniprot
Q8NG30
resolver
uniprot
Q9H0V6
resolver
uniprot_entry
RN170_HUMAN
resolver
uniprot_sec
D3DSY6
resolver
uniprot_sec
E9PIL4
resolver
uniprot_sec
Q7Z483
resolver
uniprot_sec
Q86YC0
resolver
uniprot_sec
Q8IXR7
resolver
uniprot_sec
Q8N2B5
resolver
uniprot_sec
Q8N5G9
resolver
uniprot_sec
Q8NG30
resolver
uniprot_sec
Q9H0V6
resolver
amino_acid_sequence
MAKYQGEVQSLKLDDDSVIEGVSDQVLVAVVVSFALIATLVYALFRNVHQNIHPENQELVRVLREQLQTEQDAPAATRQQFYTDMYCPICLHQASFPVETNCGHLFCGACIIAYWRYGSWLGAISCPICRQTVTLLLTVFGEDDQSQDVLRLHQDINDYNRRFSGQPRSIMERIMDLPTLLRHAFREMFSVGGLFWMFRIRIILCLMGAFFYLISPLDFVPEALFGILGFLDDFFVIFLLLIYISIMYREVITQRLTR
uniprot
proteins
disease_involvement
DISEASE: Ataxia, sensory, 1, autosomal dominant (SNAX1) [MIM:608984]: A rare disease characterized by progressive ataxia caused by degeneration of the posterior columns of the spinal cord. Affected individuals have a reduced ability to feel pain, temperature and vibration, particularly in the hands and feet. Their most prominent feature is an ataxic gait resulting from a severe loss of proprioception. Thus, patients rely on visual cues for maintaining proper body posture, such that they are unable to remain upright if their eyes are closed (Romberg sign). {ECO:0000269|PubMed:21115467}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Spastic paraplegia 85, autosomal recessive (SPG85) [MIM:619686]: A form of spastic paraplegia, a neurodegenerative disorder characterized by a slow, gradual, progressive weakness and spasticity of the lower limbs. Rate of progression and the severity of symptoms are quite variable. Initial symptoms may include difficulty with balance, weakness and stiffness in the legs, muscle spasms, and dragging the toes when walking. In some forms of the disorder, bladder symptoms (such as incontinence) may appear, or the weakness and stiffness may spread to other parts of the body. SPG85 is an autosomal recessive form characterized by onset of motor symptoms in the first few years of life. Patients may have upper limb involvement and demonstrate axonal polyneuropathy. Additional features include optic atrophy, dysarthria, dysphagia, ataxia, and urinary incontinence. Brain imaging may show cerebellar atrophy. {ECO:0000269|PubMed:31636353, ECO:0000269|PubMed:33165979, ECO:0000269|PubMed:35041108}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
2.3.2.27
uniprot
proteins
function
FUNCTION: E3 ubiquitin-protein ligase that plays an essential role in stimulus-induced inositol 1,4,5-trisphosphate receptor type 1 (ITPR1) ubiquitination and degradation via the endoplasmic reticulum-associated degradation (ERAD) pathway. Also involved in ITPR1 turnover in resting cells. Selectively inhibits the TLR3-triggered innate immune response by promoting the 'Lys-48'-linked polyubiquitination and degradation of TLR3 (PubMed:31076723). {ECO:0000269|PubMed:21610068, ECO:0000269|PubMed:31076723}.
uniprot
proteins
mass_dalton
29815
uniprot
proteins
mutagenesis
MUTAGEN 102; /note="C->S: Complete loss of E3 ligase activity; when associated with A-104."; /evidence="ECO:0000269|PubMed:31076723"; MUTAGEN 104; /note="H->A: Complete loss of E3 ligase activity; when associated with S-102."; /evidence="ECO:0000269|PubMed:31076723
uniprot
proteins
pathway_participation
PATHWAY: Protein modification; protein ubiquitination.
uniprot
proteins
pubmed
11230166
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16421571
uniprot
proteins
pubmed
21115467
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
21610068
uniprot
proteins
pubmed
29743376
uniprot
proteins
pubmed
31076723
uniprot
proteins
pubmed
31636353
uniprot
proteins
pubmed
33165979
uniprot
proteins
pubmed
35041108
uniprot
proteins
sequence_length
258
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Endoplasmic reticulum membrane {ECO:0000269|PubMed:21610068, ECO:0000269|PubMed:31076723}; Multi-pass membrane protein {ECO:0000269|PubMed:21610068}.
uniprot
proteins
transmembrane_region
TRANSMEM 25..45; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 202..222; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 224..244; /note="Helical"; /evidence="ECO:0000255
uniprot
proteins