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

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: mouse all
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Genomic context

Location:: 16p13.3

Exon count:: 7

Annotation release	Status	Assembly	Chr	Location
110	current	GRCh38.p14 (GCF_000001405.40)	16	NC_000016.10 (680410..682801)
110	current	T2T-CHM13v2.0 (GCF_009914755.1)	16	NC_060940.1 (684485..686876)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	16	NC_000016.9 (730410..732801)

Chromosome 16 - NC_000016.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: 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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Regulation of STUB1 expression and its biological significance in mouse Sertoli cells.
Title: Regulation of STUB1 expression and its biological significance in mouse Sertoli cells.
The molecular basis of spinocerebellar ataxia type 48 caused by a de novo mutation in the ubiquitin ligase CHIP.
Title: The molecular basis of spinocerebellar ataxia type 48 caused by a de novo mutation in the ubiquitin ligase CHIP.
Ubiquitin ligase STUB1 destabilizes IFNgamma-receptor complex to suppress tumor IFNgamma signaling.
Title: Ubiquitin ligase STUB1 destabilizes IFNγ-receptor complex to suppress tumor IFNγ signaling.
Digenic inheritance of STUB1 variants and TBP polyglutamine expansions explains the incomplete penetrance of SCA17 and SCA48.
Title: Digenic inheritance of STUB1 variants and TBP polyglutamine expansions explains the incomplete penetrance of SCA17 and SCA48.
Indeterminate and oncogenic potential: CHIP vs CHOP mutations in AML with NPM1 alteration.
Title: Indeterminate and oncogenic potential: CHIP vs CHOP mutations in AML with NPM1 alteration.
One DNA Methylation Regulates CHIP Gene Expression of Human Breast Cancer and Predicts Recurrence.
Title: One DNA Methylation Regulates <i>CHIP</i> Gene Expression of Human Breast Cancer and Predicts Recurrence.
CHIP-mediated CIB1 ubiquitination regulated epithelial-mesenchymal transition and tumor metastasis in lung adenocarcinoma.
Title: CHIP-mediated CIB1 ubiquitination regulated epithelial-mesenchymal transition and tumor metastasis in lung adenocarcinoma.
PKM2 compensates for proteasome dysfunction by mediating the formation of the CHIP-HSP70-BAG3 complex and the aggregation of ubiquitinated proteins.
Title: PKM2 compensates for proteasome dysfunction by mediating the formation of the CHIP-HSP70-BAG3 complex and the aggregation of ubiquitinated proteins.
Adaptor SH3BGRL promotes breast cancer metastasis through PFN1 degradation by translational STUB1 upregulation.
Title: Adaptor SH3BGRL promotes breast cancer metastasis through PFN1 degradation by translational STUB1 upregulation.
Clinical and functional characterization of a novel STUB1 frameshift mutation in autosomal dominant spinocerebellar ataxia type 48 (SCA48).
Title: Clinical and functional characterization of a novel STUB1 frameshift mutation in autosomal dominant spinocerebellar ataxia type 48 (SCA48).

Submit: New GeneRIF Correction See all GeneRIFs (202)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Autosomal recessive spinocerebellar ataxia 16 MedGen: C4014261 OMIM: 615768 GeneReviews: Not available	Compare labs
Spinocerebellar ataxia 48 MedGen: C4748158 OMIM: 618093 GeneReviews: Not available	Compare labs

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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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

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

IB740 (e-PCR)
- UniSTS:35213

RH15604 (e-PCR)
- UniSTS:86698

Homology

Homologs of the STUB1 gene: The STUB1 gene is conserved in chimpanzee, Rhesus monkey, dog, cow, mouse, rat, chicken, zebrafish, fruit fly, mosquito, C.elegans, M.oryzae, N.crassa, A.thaliana, rice, and frog.
Orthologs from Annotation Pipeline: 421 organisms have orthologs with human gene STUB1
Orthologs

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 SMAD binding	IDA Inferred from Direct Assay 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 chaperone binding	IBA Inferred from Biological aspect of Ancestor more info	PubMed
enables chaperone binding	IPI Inferred from Physical Interaction 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	IDA Inferred from Direct Assay more info	PubMed
enables protein homodimerization activity	ISS Inferred from Sequence or Structural Similarity more info
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	PubMed
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 ERBB2 signaling pathway	TAS Traceable Author Statement more info
involved_in cellular response to heat	ISS Inferred from Sequence or Structural Similarity more info
involved_in cellular response to hypoxia	ISS Inferred from Sequence or Structural Similarity more info
involved_in cellular response to misfolded protein	IBA Inferred from Biological aspect of Ancestor more info	PubMed
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 protein binding	IEA Inferred from Electronic Annotation 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 chaperone-mediated protein complex assembly	IDA Inferred from Direct Assay more info	PubMed
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	PubMed
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	PubMed
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 polyubiquitination	IBA Inferred from Biological aspect of Ancestor more info	PubMed
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	PubMed
involved_in protein quality control for misfolded or incompletely synthesized proteins	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	ISS Inferred from Sequence or Structural Similarity more info
involved_in ubiquitin-dependent ERAD pathway	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in ubiquitin-dependent SMAD protein catabolic process	IDA Inferred from Direct Assay more info	PubMed
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	PubMed
part_of chaperone complex	IPI Inferred from Physical Interaction more info	PubMed
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info	PubMed
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 nuclear inclusion body	IDA Inferred from Direct Assay more info	PubMed
located_in nucleoplasm	IDA Inferred from Direct Assay more info
located_in nucleus	ISS Inferred from Sequence or Structural Similarity more info
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

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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

EC 2.3.2.27

NP_005852.2

EC 2.3.2.27

NCBI Reference Sequences (RefSeq)

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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

NG_034141.1 RefSeqGene

Range

5300..7691

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001293197.2 → NP_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:21 → 51

TPR; TPR repeat [structural motif]

cd16654
Location:155 → 221

RING-Ubox_CHIP; U-box domain, a modified RING finger, found in carboxyl terminus of HSP70-interacting protein (CHIP) and similar proteins

pfam12895
Location:1 → 48

ANAPC3; Anaphase-promoting complex, cyclosome, subunit 3
NM_005861.4 → NP_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

Q9UNE7

Related

ENSP00000219548.4, ENST00000219548.9

Conserved Domains (4) summary

PLN03088
Location:26 → 126

PLN03088; SGT1, suppressor of G2 allele of SKP1; Provisional

sd00006
Location:26 → 54

TPR; TPR repeat [structural motif]

cd16654
Location:227 → 293

RING-Ubox_CHIP; U-box domain, a modified RING finger, found in carboxyl terminus of HSP70-interacting protein (CHIP) and similar proteins

pfam18391
Location:142 → 225

CHIP_TPR_N; CHIP N-terminal tetratricopeptide repeat domain