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

Gene ID: 10273, updated on 10-Dec-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: Tissue-specific circular RNA induction during human fetal development
  • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
  • BioProject: PRJNA270632
  • Publication: PMID 26076956
  • Analysis date: Mon Apr 2 22:54:59 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
Compare labs
Spinocerebellar ataxia 48
MedGen: C4748158 OMIM: 618093 GeneReviews: Not available
Compare labs

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

General gene information

Gene Ontology Provided by GOA

Items 1 - 25 of 28
Function Evidence Code Pubs
enables G protein-coupled receptor binding PubMed 
enables Hsp70 protein binding PubMed 
enables Hsp70 protein binding PubMed 
enables Hsp90 protein binding PubMed 
enables R-SMAD binding PubMed 
enables SMAD binding PubMed 
enables TPR domain binding PubMed 
enables enzyme binding PubMed 
enables heat shock protein binding PubMed 
enables kinase binding PubMed 
enables misfolded protein binding PubMed 
enables protein binding PubMed 
enables protein homodimerization activity PubMed 
enables protein homodimerization activity  
enables protein-folding chaperone binding  
enables protein-folding chaperone binding PubMed 
enables protein-macromolecule adaptor activity PubMed 
enables tau protein binding PubMed 
enables ubiquitin protein ligase activity  
enables ubiquitin protein ligase activity PubMed 
enables ubiquitin protein ligase activity PubMed 
enables ubiquitin protein ligase activity PubMed 
enables ubiquitin protein ligase activity  
enables ubiquitin protein ligase binding PubMed 
enables ubiquitin-protein transferase activity PubMed 
enables ubiquitin-protein transferase activity PubMed 
enables ubiquitin-protein transferase activity PubMed 
enables ubiquitin-ubiquitin ligase activity  
Items 1 - 25 of 28
Items 1 - 25 of 43
Process Evidence Code Pubs
involved_in DNA repair  
involved_in ERAD pathway PubMed 
involved_in ERBB2 signaling pathway  
involved_in MAPK cascade  
involved_in cellular response to misfolded protein  
involved_in cellular response to misfolded protein PubMed 
involved_in endoplasmic reticulum unfolded protein response  
involved_in negative regulation of cardiac muscle hypertrophy  
involved_in negative regulation of peroxisome proliferator activated receptor signaling pathway  
involved_in negative regulation of smooth muscle cell apoptotic process PubMed 
involved_in negative regulation of smooth muscle cell apoptotic process  
involved_in negative regulation of transforming growth factor beta receptor signaling pathway PubMed 
involved_in negative regulation of transforming growth factor beta receptor signaling pathway  
involved_in negative regulation of vascular associated smooth muscle contraction  
involved_in positive regulation of ERAD pathway PubMed 
involved_in positive regulation of chaperone-mediated protein complex assembly PubMed 
involved_in positive regulation of mitophagy  
involved_in positive regulation of proteasomal ubiquitin-dependent protein catabolic process PubMed 
involved_in positive regulation of protein ubiquitination PubMed 
involved_in positive regulation of proteolysis  
involved_in positive regulation of proteolysis PubMed 
involved_in positive regulation of smooth muscle cell apoptotic process  
involved_in proteasome-mediated ubiquitin-dependent protein catabolic process  
involved_in proteasome-mediated ubiquitin-dependent protein catabolic process PubMed 
involved_in proteasome-mediated ubiquitin-dependent protein catabolic process PubMed 
involved_in proteasome-mediated ubiquitin-dependent protein catabolic process PubMed 
involved_in protein K63-linked ubiquitination PubMed 
involved_in protein autoubiquitination PubMed 
involved_in protein maturation PubMed 
involved_in protein monoubiquitination PubMed 
involved_in protein polyubiquitination  
involved_in protein polyubiquitination PubMed 
involved_in protein polyubiquitination PubMed 
involved_in protein quality control for misfolded or incompletely synthesized proteins  
involved_in protein quality control for misfolded or incompletely synthesized proteins PubMed 
involved_in protein stabilization PubMed 
involved_in protein ubiquitination PubMed 
involved_in protein ubiquitination PubMed 
involved_in regulation of glucocorticoid metabolic process PubMed 
involved_in regulation of protein stability PubMed 
involved_in ubiquitin-dependent protein catabolic process PubMed 
involved_in ubiquitin-dependent protein catabolic process PubMed 
involved_in ubiquitin-dependent protein catabolic process PubMed 
Items 1 - 25 of 43
Component Evidence Code Pubs
is_active_in Z disc  
is_active_in cytoplasm  
located_in cytoplasm PubMed 
located_in cytoplasm  
located_in cytosol  
located_in cytosol  
located_in endoplasmic reticulum PubMed 
located_in mitochondrion  
located_in nuclear inclusion body PubMed 
located_in nucleoplasm  
is_active_in nucleus PubMed 
part_of protein folding chaperone complex PubMed 
part_of ubiquitin conjugating enzyme complex PubMed 
part_of ubiquitin ligase complex 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)

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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

  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)
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