Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
10273
Gene name Gene Name - the full gene name approved by the HGNC.
STIP1 homology and U-box containing protein 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
STUB1
Synonyms (NCBI Gene) Gene synonyms aliases
CHIP, HSPABP2, NY-CO-7, SCA48, SCAR16, SDCCAG7, UBOX1
Chromosome Chromosome number
16
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
16p13.3
Summary Summary of gene provided in NCBI Entrez Gene.
This gene encodes a protein containing tetratricopeptide repeat and a U-box that functions as a ubiquitin ligase/cochaperone. The encoded protein binds to and ubiquitinates shock cognate 71 kDa protein (Hspa8) and DNA polymerase beta (Polb), among other t
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT028574 hsa-miR-30a-5p Proteomics 18668040
MIRT029709 hsa-miR-26b-5p Microarray 19088304
MIRT1399920 hsa-miR-1178 CLIP-seq
MIRT1399921 hsa-miR-1275 CLIP-seq
MIRT1399922 hsa-miR-1290 CLIP-seq
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0000151 Component Ubiquitin ligase complex IDA 12150907, 16275660, 16307917
GO:0000165 Process MAPK cascade IEA
GO:0000165 Process MAPK cascade ISS
GO:0000209 Process Protein polyubiquitination IBA
GO:0000209 Process Protein polyubiquitination IDA 15781469, 16275660
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
607207 11427 ENSG00000103266
Protein
UniProt ID Q9UNE7
Protein name E3 ubiquitin-protein ligase CHIP (EC 2.3.2.27) (Antigen NY-CO-7) (CLL-associated antigen KW-8) (Carboxy terminus of Hsp70-interacting protein) (RING-type E3 ubiquitin transferase CHIP) (STIP1 homology and U box-containing protein 1)
Protein function E3 ubiquitin-protein ligase which targets misfolded chaperone substrates towards proteasomal degradation (PubMed:10330192, PubMed:11146632, PubMed:11557750, PubMed:23990462, PubMed:26265139). Plays a role in the maintenance of mitochondrial morp
PDB 4KBQ , 6EFK , 6NSV , 7TB1 , 8EHZ , 8EI0 , 8F14 , 8F15 , 8F16 , 8F17 , 8FYU , 8GCK , 8SUV , 9DRY
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF12895 ANAPC3 39 120 Domain
PF18391 CHIP_TPR_N 142 225 CHIP N-terminal tetratricopeptide repeat domain Domain
PF04564 U-box 227 299 U-box domain Domain
Tissue specificity TISSUE SPECIFICITY: Expressed in differentiated myotubes (at protein level) (PubMed:17369820). Highly expressed in skeletal muscle, heart, pancreas, brain and placenta (PubMed:10330192, PubMed:11435423). Detected in kidney, liver and lung (PubMed:10330192
Sequence
Sequence length 303
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG   Reactome
  Ubiquitin mediated proteolysis
Protein processing in endoplasmic reticulum
  Downregulation of TGF-beta receptor signaling
Downregulation of ERBB2 signaling
Regulation of RUNX2 expression and activity
Regulation of PTEN stability and activity
Antigen processing: Ubiquitination & Proteasome degradation
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Spinocerebellar Ataxia Spinocerebellar ataxia 48, Autosomal recessive spinocerebellar ataxia 16 rs754446573, rs587777347, rs690016544, rs1555475283, rs587777340, rs1555475375, rs587777341, rs760424025, rs587777342, rs1555475794, rs587777344, rs748984540, rs587777345, rs1567283195, rs587777346 N/A
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Alopecia Associate 25258038
Alzheimer Disease Associate 21220432
Arthritis Rheumatoid Stimulate 35943876
Arthritis Rheumatoid Associate 37604355
Ataxia Associate 24742043, 28193273, 32713943, 33811518, 34070858, 36422518
Ataxia Sensory Autosomal Dominant Associate 33811518
Atrophy Associate 36476347
Autonomic Nervous System Diseases Associate 28193273
Breast Neoplasms Associate 29510992
Carcinoma Hepatocellular Associate 37515378