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Aliases for STUB1 Gene

Aliases for STUB1 Gene

  • STIP1 Homology And U-Box Containing Protein 1, E3 Ubiquitin Protein Ligase 2 3
  • CHIP 3 4 6
  • Carboxy Terminus Of Hsp70-Interacting Protein 3 4
  • CLL-Associated Antigen KW-8 3 4
  • Antigen NY-CO-7 3 4
  • Heat Shock Protein A Binding Protein 2 (C-Terminal) 3
  • STIP1 Homology And U-Box Containing Protein 1 2
  • STIP1 Homology And U Box-Containing Protein 1 4
  • Serologically Defined Colon Cancer Antigen 7 3
  • E3 Ubiquitin-Protein Ligase CHIP 3
  • EC 6.3.2.- 4
  • HSPABP2 3
  • NY-CO-7 3
  • SDCCAG7 3
  • SCAR16 3
  • UBOX1 3

External Ids for STUB1 Gene

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, E3 Ubiquitin Protein Ligase) is a Protein Coding gene. Diseases associated with STUB1 include spinocerebellar ataxia, autosomal recessive 16 and cerebellar ataxia and hypogonadotropic hypogonadism. Among its related pathways are Signaling by FGFR and Signaling by GPCR. GO annotations related to this gene include protein homodimerization activity and enzyme binding.

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. 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).

Gene Wiki entry for STUB1 Gene

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

Genomics for STUB1 Gene

Genomic Location for STUB1 Gene

Start:
680,115 bp from pter
End:
682,870 bp from pter
Size:
2,756 bases
Orientation:
Plus strand

Genomic View for STUB1 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for STUB1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for STUB1 Gene

Regulatory Elements for STUB1 Gene

Proteins for STUB1 Gene

  • 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. Interacts with BAG2, and with the E2 ubiquitin conjugating enzymes UBE2D1, UBE2D2 and UBE2D3. Detected in a ternary complex containing STUB1, HSPA1A and HSPBP1. Interacts with MKKS. Interacts with DYX1C1 and POLB. Interacts (via TPR repeats) with the C-terminal domains of HSP90AA1 and HSPA8. 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. Interacts with DNAJB6. Interacts with FOXP3.
    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

Proteomics data for STUB1 Gene at MOPED

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.
  • Modification sites at PhosphoSitePlus
  • Ubiquitination at Lys2, Lys22, Lys221, and Lys255

Other Protein References for STUB1 Gene

No data available for DME Specific Peptides for STUB1 Gene

Domains for STUB1 Gene

Gene Families for STUB1 Gene

HGNC:
  • TTC :Tetratricopeptide (TTC) repeat domain containing
  • UBOX :U-box domain containing

UniProtKB/Swiss-Prot:

CHIP_HUMAN
Domain:
  • The U-box domain is required for the ubiquitin protein ligase activity.:
    • Q9UNE7
  • The TPR domain is essential for ubiquitination mediated by UBE2D1.:
    • Q9UNE7
  • Contains 1 U-box domain.:
    • Q9UNE7
Similarity:
  • Contains 3 TPR repeats.:
    • Q9UNE7
genes like me logo Genes that share domains with STUB1: view

Function for STUB1 Gene

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 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. 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).
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 TAS 16307917
GO:0005515 protein binding IPI 11146632
GO:0016874 ligase 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

Animal Models for STUB1 Gene

MGI Knock Outs for STUB1:

miRNA for STUB1 Gene

miRTarBase miRNAs that target STUB1

No data available for Transcription Factor Targeting 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
Jensen Localization Image for STUB1 Gene COMPARTMENTS Subcellular localization image for STUB1 gene
Compartment Confidence
cytosol 4
nucleus 4
cytoskeleton 3
plasma membrane 3

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 --
GO:0005654 nucleoplasm IDA --
GO:0005737 cytoplasm IDA --
GO:0005783 endoplasmic reticulum IDA 12150907
genes like me logo Genes that share ontologies with STUB1: view

Pathways 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.

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 misfolded or incompletely synthesized protein catabolic process IDA 16831871
GO:0007179 transforming growth factor beta receptor signaling pathway TAS --
genes like me logo Genes that share ontologies with STUB1: view

Compounds for STUB1 Gene

(4) HMDB Compounds for STUB1 Gene

Compound Synonyms Cas Number PubMed IDs
Adenosine monophosphate
  • 5'-AMP
61-19-8
Adenosine triphosphate
  • 5'-(tetrahydrogen triphosphate) Adenosine
56-65-5
Phosphoric acid
  • acide phosphorique (FRENCH)
7664-38-2
Pyrophosphate
  • (4-)Diphosphoric acid ion
14000-31-8

(5) Novoseek inferred chemical compound relationships for STUB1 Gene

Compound -log(P) Hits PubMed IDs
geldanamycin 77.1 6
glutamine 36 3
estrogen 19 2
testosterone 15.5 2
tyrosine 0 1
genes like me logo Genes that share compounds with STUB1: view

Transcripts for STUB1 Gene

Unigene Clusters for STUB1 Gene

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

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

mRNA expression in normal human tissues for STUB1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for STUB1 Gene

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.
genes like me logo Genes that share expressions with STUB1: view

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 36
  • 99.78 (n)
  • 100 (a)
STUB1 37
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia STUB1 36
  • 91.31 (n)
  • 97.36 (a)
STUB1 37
  • 92 (a)
OneToOne
dog
(Canis familiaris)
Mammalia STUB1 36
  • 90.91 (n)
  • 97.4 (a)
STUB1 37
  • 97 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Stub1 36
  • 88.34 (n)
  • 97.03 (a)
Stub1 16
Stub1 37
  • 97 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia STUB1 37
  • 91 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Stub1 36
  • 88.89 (n)
  • 97.03 (a)
chicken
(Gallus gallus)
Aves gga-mir-6643 37
  • 83 (a)
OneToOne
STUB1 36
  • 83.28 (n)
  • 87.79 (a)
lizard
(Anolis carolinensis)
Reptilia STUB1 37
  • 81 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia Xl.3752 36
tropical clawed frog
(Silurana tropicalis)
Amphibia stub1 36
  • 76.02 (n)
  • 81.19 (a)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.11175 36
zebrafish
(Danio rerio)
Actinopterygii stub1 36
  • 77.42 (n)
  • 81.16 (a)
stub1 37
  • 80 (a)
OneToOne
wufc22f04 36
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP008918 36
  • 63.06 (n)
  • 58.12 (a)
fruit fly
(Drosophila melanogaster)
Insecta CHIP 36
  • 59.21 (n)
  • 58.12 (a)
CHIP 37
  • 56 (a)
OneToOne
CHIP 38
  • 57 (a)
worm
(Caenorhabditis elegans)
Secernentea chn-1 36
  • 47.66 (n)
  • 44.14 (a)
chn-1 37
  • 40 (a)
OneToOne
thale cress
(Arabidopsis thaliana)
eudicotyledons CHIP 36
  • 44.07 (n)
  • 35.61 (a)
rice
(Oryza sativa)
Liliopsida Os08g0113300 36
  • 58.9 (n)
  • 60.27 (a)
bread mold
(Neurospora crassa)
Ascomycetes NCU10270 36
  • 46.96 (n)
  • 30 (a)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.522 36
Species with no ortholog for STUB1:
  • 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

Sequence variations from dbSNP and Humsavar for STUB1 Gene

SNP ID Clin Chr 16 pos Sequence Context AA Info Type MAF
rs1060434 -- 681,093(-) TCTGA(C/T)CCACG utr-variant-5-prime, intron-variant
rs11558085 -- 680,620(+) GGAGC(A/G)GGGCA utr-variant-5-prime, reference, missense
rs11558086 -- 680,520(+) CGCGC(A/G)GCGCC utr-variant-5-prime
rs12599315 -- 679,831(+) GGCGG(C/T)GGCTG upstream-variant-2KB
rs12600184 -- 679,825(+) GCGGG(A/G)GGCGG upstream-variant-2KB

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

Variant ID Type Subtype PubMed ID
esv2422427 CNV Duplication 17116639
nsv904707 CNV Loss 21882294
nsv526903 CNV Loss 19592680
dgv2475n71 CNV Loss 21882294
dgv2479n71 CNV Loss 21882294
nsv471063 CNV Loss 18288195
dgv2485n71 CNV Loss 21882294
nsv904759 CNV Loss 21882294
dgv2487n71 CNV Loss 21882294
nsv516590 CNV Loss 19592680
dgv2488n71 CNV Loss 21882294
nsv904781 CNV Gain 21882294
nsv471065 CNV Gain 18288195
nsv904785 CNV Gain+Loss 21882294
dgv2490n71 CNV Loss 21882294
nsv9321 CNV Gain+Loss 18304495
nsv457310 CNV Loss 19166990
dgv2491n71 CNV Loss 21882294
nsv904796 CNV Loss 21882294
nsv904797 CNV Loss 21882294
dgv2492n71 CNV Loss 21882294
nsv904799 CNV Loss 21882294
nsv827480 CNV Gain 20364138
dgv2493n71 CNV Loss 21882294
dgv2494n71 CNV Loss 21882294
nsv904803 CNV Loss 21882294
nsv482181 CNV Gain 20164927
nsv482182 CNV Gain 20164927
nsv457311 CNV Loss 19166990

Relevant External Links for STUB1 Gene

HapMap Linkage Disequilibrium report
STUB1
Human Gene Mutation Database (HGMD)
STUB1

Disorders for STUB1 Gene

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.

(5) Novoseek inferred disease relationships for STUB1 Gene

Disease -log(P) Hits PubMed IDs
tauopathies 51.3 2
neurodegenerative diseases 46 2
shock 38.9 3
parkinson disease 18.1 1
alzheimers disease 1.56 1
genes like me logo Genes that share disorders with STUB1: view

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 C.A. … Patterson C. (Mol. Cell. Biol. 1999) 2 3 4 23
  2. Ubiquitylation of neuronal nitric-oxide synthase by CHIP, a chaperone-dependent E3 ligase. (PMID: 15466472) Peng H.M. … Osawa Y. (J. Biol. Chem. 2004) 3 4 23
  3. Chaperoned ubiquitylation -- crystal structures of the CHIP U box E3 ubiquitin ligase and a CHIP-Ubc13-Uev1a complex. (PMID: 16307917) Zhang M. … Pearl L.H. (Mol. Cell 2005) 3 4 23
  4. MKKS is a centrosome-shuttling protein degraded by disease-causing mutations via CHIP-mediated ubiquitination. (PMID: 18094050) Hirayama S. … Nagata K. (Mol. Biol. Cell 2008) 3 4 23
  5. Characterization of human colon cancer antigens recognized by autologous antibodies. (PMID: 9610721) Scanlan M.J. … Old L.J. (Int. J. Cancer 1998) 2 3 4

Products for STUB1 Gene

Sources for STUB1 Gene

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