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STUB1 STIP1 homology and U-box containing protein 1 [ Homo sapiens (human) ]

Gene ID: 10273, updated on 12-Nov-2024

Summary

Official Symbol
STUB1provided by HGNC
Official Full Name
STIP1 homology and U-box containing protein 1provided by HGNC
Primary source
HGNC:HGNC:11427
See related
Ensembl:ENSG00000103266 MIM:607207; AllianceGenome:HGNC:11427
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
CHIP; SCA48; UBOX1; SCAR16; HSPABP2; NY-CO-7; SDCCAG7
Summary
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]
Expression
Ubiquitous expression in fat (RPKM 42.9), kidney (RPKM 39.1) and 25 other tissues See more
Orthologs
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Genomic context

See STUB1 in Genome Data Viewer
Location:
16p13.3
Exon count:
7
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 16 NC_000016.10 (680410..682801)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 16 NC_060940.1 (684485..686876)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (730410..732801)

Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6938 Neighboring gene rhomboid like 1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6939 Neighboring gene STUB1 divergent transcript Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6940 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:731189-731776 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:731777-732364 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6941 Neighboring gene jumonji domain containing 8 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10212 Neighboring gene WD repeat domain 24 Neighboring gene H3K27ac hESC enhancer GRCh37_chr16:740279-740826 Neighboring gene F-box and leucine rich repeat protein 16 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6942 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10213 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10214 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:750057-750886

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Autosomal recessive spinocerebellar ataxia 16
MedGen: C5190574 OMIM: 615768 GeneReviews: Not available
not available
Spinocerebellar ataxia 48
MedGen: C4748158 OMIM: 618093 GeneReviews: Not available
not available

HIV-1 interactions

Protein interactions

Protein Gene Interaction Pubs
Vif vif HIV-1 Vif is identified to have a physical interaction with STIP1 homology and U-box containing protein 1, E3 ubiquitin protein ligase (STUB1) in human HEK293 and/or Jurkat cell lines by using affinity tagging and purification mass spectrometry analyses PubMed

Go to the HIV-1, Human Interaction Database

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables G protein-coupled receptor binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables Hsp70 protein binding IDA
Inferred from Direct Assay
more info
PubMed 
enables Hsp70 protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables Hsp90 protein binding IDA
Inferred from Direct Assay
more info
PubMed 
enables R-SMAD binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables SMAD binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables TPR domain binding IDA
Inferred from Direct Assay
more info
PubMed 
enables enzyme binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables heat shock protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables kinase binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables misfolded protein binding IDA
Inferred from Direct Assay
more info
PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables protein homodimerization activity IPI
Inferred from Physical Interaction
more info
PubMed 
enables protein homodimerization activity ISS
Inferred from Sequence or Structural Similarity
more info
 
enables protein-folding chaperone binding IBA
Inferred from Biological aspect of Ancestor
more info
 
enables protein-folding chaperone binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables protein-macromolecule adaptor activity TAS
Traceable Author Statement
more info
PubMed 
enables tau protein binding NAS
Non-traceable Author Statement
more info
PubMed 
enables ubiquitin protein ligase activity IBA
Inferred from Biological aspect of Ancestor
more info
 
enables ubiquitin protein ligase activity IDA
Inferred from Direct Assay
more info
PubMed 
enables ubiquitin protein ligase activity IGI
Inferred from Genetic Interaction
more info
PubMed 
enables ubiquitin protein ligase activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
enables ubiquitin protein ligase activity TAS
Traceable Author Statement
more info
 
enables ubiquitin protein ligase binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables ubiquitin-protein transferase activity IDA
Inferred from Direct Assay
more info
PubMed 
enables ubiquitin-protein transferase activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
enables ubiquitin-protein transferase activity TAS
Traceable Author Statement
more info
PubMed 
enables ubiquitin-ubiquitin ligase activity ISS
Inferred from Sequence or Structural Similarity
more info
 
Process Evidence Code Pubs
involved_in DNA repair IEA
Inferred from Electronic Annotation
more info
 
involved_in ERAD pathway IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in ERBB2 signaling pathway TAS
Traceable Author Statement
more info
 
involved_in MAPK cascade ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in cellular response to heat IEA
Inferred from Electronic Annotation
more info
 
involved_in cellular response to hypoxia IEA
Inferred from Electronic Annotation
more info
 
involved_in cellular response to misfolded protein IBA
Inferred from Biological aspect of Ancestor
more info
 
involved_in cellular response to misfolded protein IDA
Inferred from Direct Assay
more info
PubMed 
involved_in chaperone-mediated autophagy IEA
Inferred from Electronic Annotation
more info
 
involved_in endoplasmic reticulum unfolded protein response IEA
Inferred from Electronic Annotation
more info
 
involved_in negative regulation of smooth muscle cell apoptotic process IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in negative regulation of smooth muscle cell apoptotic process ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in negative regulation of transforming growth factor beta receptor signaling pathway IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in negative regulation of transforming growth factor beta receptor signaling pathway TAS
Traceable Author Statement
more info
 
involved_in positive regulation of ERAD pathway IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in positive regulation of chaperone-mediated protein complex assembly IDA
Inferred from Direct Assay
more info
PubMed 
involved_in positive regulation of mitophagy ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in positive regulation of proteasomal ubiquitin-dependent protein catabolic process IDA
Inferred from Direct Assay
more info
PubMed 
involved_in positive regulation of protein ubiquitination IDA
Inferred from Direct Assay
more info
PubMed 
involved_in positive regulation of proteolysis IBA
Inferred from Biological aspect of Ancestor
more info
 
involved_in positive regulation of proteolysis IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in positive regulation of smooth muscle cell apoptotic process ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in positive regulation of ubiquitin-protein transferase activity IEA
Inferred from Electronic Annotation
more info
 
involved_in proteasome-mediated ubiquitin-dependent protein catabolic process IBA
Inferred from Biological aspect of Ancestor
more info
 
involved_in proteasome-mediated ubiquitin-dependent protein catabolic process IDA
Inferred from Direct Assay
more info
PubMed 
involved_in proteasome-mediated ubiquitin-dependent protein catabolic process IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in proteasome-mediated ubiquitin-dependent protein catabolic process TAS
Traceable Author Statement
more info
PubMed 
involved_in protein K63-linked ubiquitination IDA
Inferred from Direct Assay
more info
PubMed 
involved_in protein autoubiquitination IDA
Inferred from Direct Assay
more info
PubMed 
involved_in protein maturation TAS
Traceable Author Statement
more info
PubMed 
involved_in protein monoubiquitination IDA
Inferred from Direct Assay
more info
PubMed 
involved_in protein polyubiquitination IBA
Inferred from Biological aspect of Ancestor
more info
 
involved_in protein polyubiquitination IDA
Inferred from Direct Assay
more info
PubMed 
involved_in protein polyubiquitination IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in protein quality control for misfolded or incompletely synthesized proteins IBA
Inferred from Biological aspect of Ancestor
more info
 
involved_in protein quality control for misfolded or incompletely synthesized proteins IDA
Inferred from Direct Assay
more info
PubMed 
involved_in protein stabilization IDA
Inferred from Direct Assay
more info
PubMed 
involved_in protein ubiquitination IDA
Inferred from Direct Assay
more info
PubMed 
involved_in protein ubiquitination IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in regulation of glucocorticoid metabolic process IDA
Inferred from Direct Assay
more info
PubMed 
involved_in regulation of protein stability IDA
Inferred from Direct Assay
more info
PubMed 
involved_in response to ischemia IEA
Inferred from Electronic Annotation
more info
 
involved_in ubiquitin-dependent protein catabolic process IGI
Inferred from Genetic Interaction
more info
PubMed 
involved_in ubiquitin-dependent protein catabolic process IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in ubiquitin-dependent protein catabolic process ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
Component Evidence Code Pubs
is_active_in Z disc IBA
Inferred from Biological aspect of Ancestor
more info
 
is_active_in cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
 
located_in cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
located_in cytoplasm ISS
Inferred from Sequence or Structural Similarity
more info
 
located_in cytosol IDA
Inferred from Direct Assay
more info
 
located_in cytosol TAS
Traceable Author Statement
more info
 
located_in endoplasmic reticulum IDA
Inferred from Direct Assay
more info
PubMed 
located_in mitochondrion ISS
Inferred from Sequence or Structural Similarity
more info
 
located_in nuclear inclusion body IDA
Inferred from Direct Assay
more info
PubMed 
located_in nucleoplasm IDA
Inferred from Direct Assay
more info
 
is_active_in nucleus IDA
Inferred from Direct Assay
more info
PubMed 
part_of protein folding chaperone complex IPI
Inferred from Physical Interaction
more info
PubMed 
part_of ubiquitin conjugating enzyme complex TAS
Traceable Author Statement
more info
PubMed 
part_of ubiquitin ligase complex IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
E3 ubiquitin-protein ligase CHIP
Names
CLL-associated antigen KW-8
RING-type E3 ubiquitin transferase CHIP
STIP1 homology and U-box containing protein 1, E3 ubiquitin protein ligase
antigen NY-CO-7
carboxy terminus of Hsp70-interacting protein
heat shock protein A binding protein 2 (c-terminal)
serologically defined colon cancer antigen 7
NP_001280126.1
NP_005852.2

NCBI Reference Sequences (RefSeq)

NEW Try the new Transcript table

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_034141.1 RefSeqGene

    Range
    5300..7691
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001293197.2NP_001280126.1  E3 ubiquitin-protein ligase CHIP isoform b

    See identical proteins and their annotated locations for NP_001280126.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) uses an alternate splice site in the 5' region and initiates translation at a downstream in-frame start codon, compared to variant 1. The encoded isoform (b) has a shorter N-terminus than isoform a.
    Source sequence(s)
    AF217968, BC017178, Z92544
    Consensus CDS
    CCDS76797.1
    UniProtKB/Swiss-Prot
    Q9UNE7
    Related
    ENSP00000457228.1, ENST00000565677.5
    Conserved Domains (3) summary
    sd00006
    Location:2151
    TPR; TPR repeat [structural motif]
    cd16654
    Location:155221
    RING-Ubox_CHIP; U-box domain, a modified RING finger, found in carboxyl terminus of HSP70-interacting protein (CHIP) and similar proteins
    pfam12895
    Location:148
    ANAPC3; Anaphase-promoting complex, cyclosome, subunit 3
  2. NM_005861.4NP_005852.2  E3 ubiquitin-protein ligase CHIP isoform a

    See identical proteins and their annotated locations for NP_005852.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the shorter transcript and encodes the longer isoform (a).
    Source sequence(s)
    AF217968, BC017178, Z92544
    Consensus CDS
    CCDS10419.1
    UniProtKB/Swiss-Prot
    A2IDB9, O60526, Q969U2, Q9HBT1, Q9UNE7
    Related
    ENSP00000219548.4, ENST00000219548.9
    Conserved Domains (4) summary
    PLN03088
    Location:26126
    PLN03088; SGT1, suppressor of G2 allele of SKP1; Provisional
    sd00006
    Location:2654
    TPR; TPR repeat [structural motif]
    cd16654
    Location:227293
    RING-Ubox_CHIP; U-box domain, a modified RING finger, found in carboxyl terminus of HSP70-interacting protein (CHIP) and similar proteins
    pfam18391
    Location:142225
    CHIP_TPR_N; CHIP N-terminal tetratricopeptide repeat domain

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000016.10 Reference GRCh38.p14 Primary Assembly

    Range
    680410..682801
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060940.1 Alternate T2T-CHM13v2.0

    Range
    684485..686876
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)