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STUB1 Gene(Protein Coding)

STIP1 Homology And U-Box Containing Protein 1

GCID:
GC16P000964
GIFtS:
55
Genes Participants
UDN Logo

Aliases for STUB1 Gene

Aliases for STUB1 Gene

  • STIP1 Homology And U-Box Containing Protein 1 2 3 5
  • Carboxy Terminus Of Hsp70-Interacting Protein 3 4
  • RING-Type E3 Ubiquitin Transferase CHIP 3 4
  • CLL-Associated Antigen KW-8 3 4
  • Antigen NY-CO-7 3 4
  • CHIP 3 4
  • STIP1 Homology And U-Box Containing Protein 1, E3 Ubiquitin Protein Ligase 3
  • Heat Shock Protein A Binding Protein 2 (C-Terminal) 3
  • STIP1 Homology And U Box-Containing Protein 1 4
  • Serologically Defined Colon Cancer Antigen 7 3
  • E3 Ubiquitin-Protein Ligase CHIP 3
  • EC 2.3.2.27 4
  • HSPABP2 3
  • NY-CO-7 3
  • SDCCAG7 3
  • SCAR16 3
  • UBOX1 3

External Ids for STUB1 Gene

Previous GeneCards Identifiers for STUB1 Gene

  • GC16P000749
  • GC16P000670
  • GC16P000731
  • GC16P000652
  • GC16P000734
  • GC16P000735
  • GC16P000736
  • GC16P000769
  • GC16P000823
  • GC16P000848
  • GC16P000818
  • GC16P000858
  • GC16P000836
  • GC16P000872
  • GC16P000902
  • GC16P000921
  • GC16P000943

Summaries for STUB1 Gene

Entrez Gene Summary for STUB1 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 targets. Mutations in this gene cause spinocerebellar ataxia, autosomal recessive 16. Alternative splicing results in multiple transcript variants. There is a pseudogene for this gene on chromosome 2. [provided by RefSeq, Jun 2014]

GeneCards Summary for STUB1 Gene

STUB1 (STIP1 Homology And U-Box Containing Protein 1) is a Protein Coding gene. Diseases associated with STUB1 include Spinocerebellar Ataxia, Autosomal Recessive 16 and Gordon Holmes Syndrome. Among its related pathways are Innate Immune System and Transcriptional activity of SMAD2/SMAD3-SMAD4 heterotrimer. Gene Ontology (GO) annotations related to this gene include protein homodimerization activity and ligase activity.

UniProtKB/Swiss-Prot for STUB1 Gene

  • E3 ubiquitin-protein ligase which targets misfolded chaperone substrates towards proteasomal degradation. Collaborates with ATXN3 in the degradation of misfolded chaperone substrates: ATXN3 restricting the length of ubiquitin chain attached to STUB1/CHIP substrates and preventing further chain extension. Ubiquitinates NOS1 in concert with Hsp70 and Hsp40. Modulates the activity of several chaperone complexes, including Hsp70, Hsc70 and Hsp90. Mediates transfer of non-canonical short ubiquitin chains to HSPA8 that have no effect on HSPA8 degradation. Mediates polyubiquitination of DNA polymerase beta (POLB) at Lys-41, Lys-61 and Lys-81, thereby playing a role in base-excision repair: catalyzes polyubiquitination by amplifying the HUWE1/ARF-BP1-dependent monoubiquitination and leading to POLB-degradation by the proteasome. Mediates polyubiquitination of CYP3A4. Ubiquitinates EPHA2 and may regulate the receptor stability and activity through proteasomal degradation. Acts as a co-chaperone for HSPA1A and HSPA1B chaperone proteins and promotes ubiquitin-mediated protein degradation (PubMed:27708256). Negatively regulates the suppressive function of regulatory T-cells (Treg) during inflammation by mediating the ubiquitination and degradation of FOXP3 in a HSPA1A/B-dependent manner (PubMed:23973223). Negatively regulates TGF-beta signaling by modulating the basal level of SMAD3 via ubiquitin-mediated degradation (PubMed:24613385).

Gene Wiki entry for STUB1 Gene

Additional gene information for STUB1 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for STUB1 Gene

Genomics for STUB1 Gene

Products:

  1. Regulatory Element

GeneHancer (GH) Regulatory Elements for STUB1 Gene

Promoters and enhancers for STUB1 Gene
GeneHancer (GH) Identifier GH Type GH
Score		 GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites		 Gene Targets
GH16I000678 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 550.8 +0.3 299 3.7 PKNOX1 ARID4B SIN3A DMAP1 ZNF2 ZBTB7B YY1 POLR2B ZNF213 ZNF207 LOC105371184 ENSG00000279441 PIR59271 STUB1 WDR90 ENSG00000260051 ENSG00000260646 WDR24 ENSG00000228779 WASH4P
GH16I000679 Enhancer 0.4 ENCODE 550.8 -1.8 -1775 0.2 SCRT1 BCL11A PATZ1 ENSG00000279441 STUB1 RHBDL1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around STUB1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the STUB1 gene promoter:

Genomic Locations for STUB1 Gene

Genomic Locations for STUB1 Gene
chr16:680,111-682,870
(GRCh38/hg38)
Size:
2,760 bases
Orientation:
Plus strand
chr16:730,115-732,870
(GRCh37/hg19)

Genomic View for STUB1 Gene

Genes around STUB1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
STUB1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for STUB1 Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for STUB1 Gene

Proteins for STUB1 Gene

Products:

  1. Antibody
  2. Protein
  3. Assay

  • Protein details for STUB1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9UNE7-CHIP_HUMAN
    Recommended name:
    E3 ubiquitin-protein ligase CHIP
    Protein Accession:
    Q9UNE7
    Secondary Accessions:
    • A2IDB9
    • O60526
    • Q969U2
    • Q9HBT1

    Protein attributes for STUB1 Gene

    Size:
    303 amino acids
    Molecular mass:
    34856 Da
    Quaternary structure:
    • Homodimer (By similarity). Interacts with BAG2 (PubMed:16169850). Interacts with E2 ubiquitin conjugating enzymes UBE2D1, UBE2D2 and UBE2D3 (PubMed:11557750). Detected in a ternary complex containing STUB1, HSPA1A and HSPBP1 (PubMed:15215316). Interacts with MKKS (PubMed:18094050). Interacts with DNAAF4 (PubMed:19423554). Interacts with POLB (PubMed:19713937). Interacts (when monoubiquitinated) with ATXN3. Interacts with UBE2W. Interacts (via the U-box domain) with the UBE2V2-UBE2N heterodimer; the complex has a specific Lys-63-linked polyubiquitination activity (By similarity). Interacts with DNAJB6 (PubMed:22366786). Interacts with FOXP3 (PubMed:23973223). Interacts with FLCN (PubMed:27353360). Interacts with HSP90AA1 (PubMed:27353360, PubMed:24613385). Interacts with HSP90 (PubMed:11146632). Interacts with UBE2N and UBE2V1 (PubMed:16307917). Interacts (via TPR repeats) with the C-terminal domain of HSPA1A (PubMed:10330192). Interacts with the non-acetylated form of HSPA1A and HSPA1B (PubMed:27708256). Interacts (via TPR repeats) with the C-terminal domain of HSPA8 (PubMed:10330192, PubMed:11557750, PubMed:23990462, PubMed:27708256). Interacts with SMAD3 and HSP90AB1 (PubMed:24613385).
    Miscellaneous:
    • Antibodies against STUB1 are found in patients with chronic lymphocytic leukemia (CLL) and in colorectal cancer patients.

    Three dimensional structures from OCA and Proteopedia for STUB1 Gene

    Alternative splice isoforms for STUB1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for STUB1 Gene

Protein Expression for STUB1 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Post-translational modifications for STUB1 Gene

  • Monoubiquitinated at Lys-2 following cell stress by UBE2W, promoting the interaction with ATXN3 (By similarity). Auto-ubiquitinated; mediated by UBE2D1 and UBE2D2.
  • Ubiquitination at posLast=22, posLast=2222, posLast=221221, and posLast=255255
  • Modification sites at PhosphoSitePlus

Other Protein References for STUB1 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for STUB1 Gene

Domains & Families for STUB1 Gene

Gene Families for STUB1 Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Enzymes
  • Potential drug targets
  • Predicted intracellular proteins

Protein Domains for STUB1 Gene

InterPro:
Blocks:
ProtoNet:

Suggested Antigen Peptide Sequences for STUB1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q9UNE7

UniProtKB/Swiss-Prot:

CHIP_HUMAN :
  • The U-box domain is required for the ubiquitin protein ligase activity.
Domain:
  • The U-box domain is required for the ubiquitin protein ligase activity.
  • The TPR domain is essential for ubiquitination mediated by UBE2D1.
genes like me logo Genes that share domains with STUB1: view

Function for STUB1 Gene

Products:

  1. Animal Model
  2. CRISPR
  3. miRNA
  4. Inhibitory RNA
  5. Clone
  6. Cell Line

Molecular function for STUB1 Gene

GENATLAS Biochemistry:
yeast STIP1 homolog and U-box containing protein 1,highly expressed in adult striated muscle,binding and interacting with the C terminus of heat shock protein HSP70,also interacting with HSP70
UniProtKB/Swiss-Prot CatalyticActivity:
S-ubiquitinyl-[E2 ubiquitin-conjugating enzyme]-L-cysteine + [acceptor protein]-L-lysine = [E2 ubiquitin-conjugating enzyme]-L-cysteine + N(6)-ubiquitinyl-[acceptor protein]-L-lysine.
UniProtKB/Swiss-Prot Function:
E3 ubiquitin-protein ligase which targets misfolded chaperone substrates towards proteasomal degradation. Collaborates with ATXN3 in the degradation of misfolded chaperone substrates: ATXN3 restricting the length of ubiquitin chain attached to STUB1/CHIP substrates and preventing further chain extension. Ubiquitinates NOS1 in concert with Hsp70 and Hsp40. Modulates the activity of several chaperone complexes, including Hsp70, Hsc70 and Hsp90. Mediates transfer of non-canonical short ubiquitin chains to HSPA8 that have no effect on HSPA8 degradation. Mediates polyubiquitination of DNA polymerase beta (POLB) at Lys-41, Lys-61 and Lys-81, thereby playing a role in base-excision repair: catalyzes polyubiquitination by amplifying the HUWE1/ARF-BP1-dependent monoubiquitination and leading to POLB-degradation by the proteasome. Mediates polyubiquitination of CYP3A4. Ubiquitinates EPHA2 and may regulate the receptor stability and activity through proteasomal degradation. Acts as a co-chaperone for HSPA1A and HSPA1B chaperone proteins and promotes ubiquitin-mediated protein degradation (PubMed:27708256). Negatively regulates the suppressive function of regulatory T-cells (Treg) during inflammation by mediating the ubiquitination and degradation of FOXP3 in a HSPA1A/B-dependent manner (PubMed:23973223). Negatively regulates TGF-beta signaling by modulating the basal level of SMAD3 via ubiquitin-mediated degradation (PubMed:24613385).
UniProtKB/Swiss-Prot Induction:
Up-regulated by inflammatory signals in regulatory T-cells (Treg).

Enzyme Numbers (IUBMB) for STUB1 Gene

Gene Ontology (GO) - Molecular Function for STUB1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001664 G-protein coupled receptor binding IPI 12150907
GO:0004842 ubiquitin-protein transferase activity IEA,TAS 16307917
GO:0005515 protein binding IPI 11146632
GO:0016740 transferase activity IEA --
GO:0019899 enzyme binding IPI 16280320
genes like me logo Genes that share ontologies with STUB1: view
genes like me logo Genes that share phenotypes with STUB1: view

Human Phenotype Ontology for STUB1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for STUB1 Gene

MGI Knock Outs for STUB1:

Animal Model Products

  • Taconic Biosciences Mouse Models for STUB1

miRNA for STUB1 Gene

miRTarBase miRNAs that target STUB1

Inhibitory RNA Products

No data available for Phenotypes From GWAS Catalog , Transcription Factor Targets and HOMER Transcription for STUB1 Gene

Localization for STUB1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for STUB1 Gene

Cytoplasm. Nucleus. Note=Translocates to the nucleus in response to inflammatory signals in regulatory T-cells (Treg). {ECO:0000269 PubMed:23973223}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for STUB1 gene
Compartment Confidence
extracellular 5
nucleus 5
endoplasmic reticulum 5
cytosol 5
plasma membrane 3
cytoskeleton 3
mitochondrion 1
lysosome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (3)
  • Nucleoplasm (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for STUB1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000151 ubiquitin ligase complex IDA 12150907
GO:0005634 nucleus IEA --
GO:0005654 nucleoplasm IDA --
GO:0005737 cytoplasm IDA,IEA 10330192
GO:0005783 endoplasmic reticulum IDA 12150907
genes like me logo Genes that share ontologies with STUB1: view

Pathways & Interactions for STUB1 Gene

genes like me logo Genes that share pathways with STUB1: view

UniProtKB/Swiss-Prot Q9UNE7-CHIP_HUMAN

  • Pathway: Protein modification; protein ubiquitination.

SIGNOR curated interactions for STUB1 Gene

Inactivates:

Gene Ontology (GO) - Biological Process for STUB1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000209 protein polyubiquitination IMP 19713937
GO:0006281 DNA repair IEA --
GO:0006511 ubiquitin-dependent protein catabolic process IMP 19713937
GO:0006515 protein quality control for misfolded or incompletely synthesized proteins IDA 16831871
GO:0006974 cellular response to DNA damage stimulus IEA --
genes like me logo Genes that share ontologies with STUB1: view

Drugs & Compounds for STUB1 Gene

Products:

  1. Drug

(8) Drugs for STUB1 Gene - From: HMDB and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Phosphoric acid Approved Pharma 0
Adenosine monophosphate Approved, Investigational Nutra 0
ATP Investigational Nutra Agonist 0

(1) Additional Compounds for STUB1 Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
pyrophosphate
  • (4-)Diphosphoric acid ion
  • (P2O74-)Diphosphate
  • Diphosphate
  • Diphosphoric acid
  • PPi
 14000-31-8
genes like me logo Genes that share compounds with STUB1: view

Transcripts for STUB1 Gene

Products:

  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
  4. Clone

mRNA/cDNA for STUB1 Gene

(2) REFSEQ mRNAs :
(8) Additional mRNA sequences :
(419) Selected AceView cDNA sequences:
(11) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for STUB1 Gene

STIP1 homology and U-box containing protein 1, E3 ubiquitin protein ligase:
Representative Sequences:

Inhibitory RNA Products

Alternative Splicing Database (ASD) splice patterns (SP) for STUB1 Gene

ExUns: 1a · 1b ^ 2a · 2b ^ 3a · 3b
SP1:
SP2: -

Relevant External Links for STUB1 Gene

GeneLoc Exon Structure for
STUB1
ECgene alternative splicing isoforms for
STUB1

Expression for STUB1 Gene

Products:

  1. Primer
  2. Gene Expression Assay

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for STUB1 Gene

mRNA expression in normal human tissues for STUB1 Gene
mRNA expression by GTEx for STUB1 GenemRNA expression by BioGPS for STUB1 Gene

Protein differential expression in normal tissues from HIPED for STUB1 Gene

This gene is overexpressed in Liver (9.8) and Retina (7.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for STUB1 Gene



Protein tissue co-expression partners for STUB1 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of STUB1 Gene:

STUB1

SOURCE GeneReport for Unigene cluster for STUB1 Gene:

Hs.592081

mRNA Expression by UniProt/SwissProt for STUB1 Gene:

Q9UNE7-CHIP_HUMAN
Tissue specificity: Highly expressed in skeletal muscle, heart, pancreas, brain and placenta. Detected in kidney, liver and lung.

Evidence on tissue expression from TISSUES for STUB1 Gene

  • Heart(4.6)
  • Skin(4.6)
  • Intestine(4.5)
  • Liver(4.5)
  • Nervous system(4.4)
  • Muscle(3.4)
  • Kidney(3.1)
  • Lung(3)
  • Stomach(2.3)
  • Blood(2)
  • Gall bladder(2)
  • Lymph node(2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for STUB1 Gene

Germ Layers:
  • ectoderm
  • mesoderm
Systems:
  • nervous
  • skeletal muscle
  • skeleton
Regions:
Head and neck:
  • brain
  • cerebellum
  • head
Limb:
  • lower limb
  • upper limb
General:
  • peripheral nerve
  • peripheral nervous system
  • spinal cord
genes like me logo Genes that share expression patterns with STUB1: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA differential expression in normal tissues for STUB1 Gene

Orthologs for STUB1 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for STUB1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
 Mammalia STUB1 33 34
  • 99.78 (n)
cow
(Bos Taurus)
 Mammalia STUB1 33 34
  • 91.31 (n)
oppossum
(Monodelphis domestica)
 Mammalia STUB1 34
  • 91 (a)
 OneToOne
dog
(Canis familiaris)
 Mammalia STUB1 33 34
  • 90.91 (n)
rat
(Rattus norvegicus)
 Mammalia Stub1 33
  • 88.89 (n)
mouse
(Mus musculus)
 Mammalia Stub1 33 16 34
  • 88.34 (n)
chicken
(Gallus gallus)
 Aves STUB1 33
  • 83.28 (n)
gga-mir-6643 34
  • 83 (a)
 OneToOne
lizard
(Anolis carolinensis)
 Reptilia STUB1 34
  • 81 (a)
 OneToOne
tropical clawed frog
(Silurana tropicalis)
 Amphibia stub1 33
  • 76.02 (n)
African clawed frog
(Xenopus laevis)
 Amphibia Xl.3752 33
zebrafish
(Danio rerio)
 Actinopterygii stub1 33 34
  • 77.42 (n)
wufc22f04 33
rainbow trout
(Oncorhynchus mykiss)
 Actinopterygii Omy.11175 33
African malaria mosquito
(Anopheles gambiae)
 Insecta AgaP_AGAP008918 33
  • 63.06 (n)
fruit fly
(Drosophila melanogaster)
 Insecta CHIP 35 33 34
  • 59.21 (n)
worm
(Caenorhabditis elegans)
 Secernentea chn-1 33 34
  • 47.66 (n)
thale cress
(Arabidopsis thaliana)
 eudicotyledons CHIP 33
  • 44.07 (n)
rice
(Oryza sativa)
 Liliopsida Os08g0113300 33
  • 58.9 (n)
bread mold
(Neurospora crassa)
 Ascomycetes NCU10270 33
  • 46.96 (n)
sea squirt
(Ciona intestinalis)
 Ascidiacea Cin.522 33
Species where no ortholog for STUB1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for STUB1 Gene

ENSEMBL:
Gene Tree for STUB1 (if available)
TreeFam:
Gene Tree for STUB1 (if available)

Paralogs for STUB1 Gene

Pseudogenes.org Pseudogenes for STUB1 Gene

genes like me logo Genes that share paralogs with STUB1: view

No data available for Paralogs for STUB1 Gene

Variants for STUB1 Gene

Products:

  1. SNP Genotyping and Copy Number Assay

Sequence variations from dbSNP and Humsavar for STUB1 Gene

SNP ID Clin Chr 16 pos Variation AA Info Type
rs146251364 uncertain-significance, not specified, Spinocerebellar ataxia, autosomal recessive, 16 (SCAR16) [MIM:615768] 681,512(+) A/C coding_sequence_variant, missense_variant
rs587777340 pathogenic, Spinocerebellar ataxia, autosomal recessive 16, Spinocerebellar ataxia, autosomal recessive, 16 (SCAR16) [MIM:615768] 681,572(+) C/T coding_sequence_variant, missense_variant
rs587777341 pathogenic, Spinocerebellar ataxia, autosomal recessive 16, Spinocerebellar ataxia, autosomal recessive, 16 (SCAR16) [MIM:615768] 681,468(+) A/T coding_sequence_variant, missense_variant
rs587777342 pathogenic, Spinocerebellar ataxia, autosomal recessive 16, Spinocerebellar ataxia, autosomal recessive, 16 (SCAR16) [MIM:615768] 681,520(+) G/A/T coding_sequence_variant, missense_variant, stop_gained
rs587777343 pathogenic, Spinocerebellar ataxia, autosomal recessive 16, Spinocerebellar ataxia, autosomal recessive, 16 (SCAR16) [MIM:615768] 682,232(+) C/T coding_sequence_variant, missense_variant

Structural Variations from Database of Genomic Variants (DGV) for STUB1 Gene

Variant ID Type Subtype PubMed ID
dgv4825n54 CNV loss 21841781
esv2422427 CNV duplication 17116639
nsv1160325 CNV duplication 26073780
nsv1160326 CNV duplication 26073780
nsv457310 CNV loss 19166990
nsv457311 CNV loss 19166990
nsv471063 CNV loss 18288195
nsv471065 CNV gain 18288195
nsv482181 CNV gain 20164927
nsv482182 CNV gain 20164927
nsv516590 CNV loss 19592680
nsv526903 CNV loss 19592680
nsv571012 CNV loss 21841781
nsv571016 CNV loss 21841781
nsv827480 CNV gain 20364138
nsv9321 CNV gain+loss 18304495
nsv952898 CNV deletion 24416366

Variation tolerance for STUB1 Gene

Residual Variation Intolerance Score: 32.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.11; 22.61% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for STUB1 Gene

Human Gene Mutation Database (HGMD)
STUB1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
STUB1

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for STUB1 Gene

Disorders for STUB1 Gene

MalaCards: The human disease database

(5) MalaCards diseases for STUB1 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

- elite association - COSMIC cancer census association via MalaCards
Search STUB1 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

CHIP_HUMAN
  • Spinocerebellar ataxia, autosomal recessive, 16 (SCAR16) [MIM:615768]: Spinocerebellar ataxia defines a clinically and genetically heterogeneous group of cerebellar disorders. Patients show progressive incoordination of gait and often poor coordination of hands, speech and eye movements, due to degeneration of the cerebellum with variable involvement of the brainstem and spinal cord. SCAR16 is characterized by truncal and limb ataxia resulting in gait instability. Additionally, patients may show dysarthria, nystagmus, spasticity of the lower limbs, and mild peripheral sensory neuropathy. {ECO:0000269 PubMed:24113144, ECO:0000269 PubMed:24312598, ECO:0000269 PubMed:24719489, ECO:0000269 PubMed:24742043, ECO:0000269 PubMed:25258038}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for STUB1

ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with STUB1: view

No data available for Genatlas for STUB1 Gene

Publications for STUB1 Gene

  1. Identification of CHIP, a novel tetratricopeptide repeat-containing protein that interacts with heat shock proteins and negatively regulates chaperone functions. (PMID: 10330192) Ballinger CA … Patterson C (Molecular and cellular biology 1999) 2 3 4 22 58
  2. MKKS is a centrosome-shuttling protein degraded by disease-causing mutations via CHIP-mediated ubiquitination. (PMID: 18094050) Hirayama S … Nagata K (Molecular biology of the cell 2008) 3 4 22 58
  3. Chaperoned ubiquitylation--crystal structures of the CHIP U box E3 ubiquitin ligase and a CHIP-Ubc13-Uev1a complex. (PMID: 16307917) Zhang M … Pearl LH (Molecular cell 2005) 3 4 22 58
  4. Ubiquitylation of neuronal nitric-oxide synthase by CHIP, a chaperone-dependent E3 ligase. (PMID: 15466472) Peng HM … Osawa Y (The Journal of biological chemistry 2004) 3 4 22 58
  5. Characterization of human colon cancer antigens recognized by autologous antibodies. (PMID: 9610721) Scanlan MJ … Old LJ (International journal of cancer 1998) 2 3 4 58

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