Gene and Protein Information
Species	TM	AA	Chromosomal Location	Gene Symbol	Gene Name	Reference
Human	-	303	16p13.3	STUB1	STIP1 homology and U-box containing protein 1
Mouse	-	304	17 12.93 cM	Stub1	STIP1 homology and U-Box containing protein 1
Rat	-	304	10q12	Stub1	STIP1 homology and U-box containing protein 1
Gene and Protein Information Comments
Alternative splicing of the human gene results in multiple transcript variants.

Previous and Unofficial Names

E3 ubiquitin-protein ligase CHIP | carboxy terminus of the Hsp70-interacting protein (CHIP) | UBOX1 | NY-CO-7

Database Links
Alphafold	Q9UNE7 (Hs), Q9WUD1 (Mm)
BRENDA	2.3.2.27
Ensembl Gene	ENSG00000103266 (Hs), ENSMUSG00000039615 (Mm), ENSRNOG00000019798 (Rn)
Entrez Gene	10273 (Hs), 56424 (Mm), 287155 (Rn)
Human Protein Atlas	ENSG00000103266 (Hs)
KEGG Enzyme	2.3.2.27
KEGG Gene	hsa:10273 (Hs), mmu:56424 (Mm), rno:287155 (Rn)
OMIM	607207 (Hs)
Pharos	Q9UNE7 (Hs)
RefSeq Nucleotide	NM_005861 (Hs), NM_019719 (Mm), NM_001025625 (Rn)
RefSeq Protein	NP_005852 (Hs), NP_062693 (Mm), NP_001020796 (Rn)
UniProtKB	Q9UNE7 (Hs), Q9WUD1 (Mm)
Wikipedia	STUB1 (Hs)

Enzyme Reaction
EC Number: 2.3.2.27

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Inhibitors
Key to terms and symbols	View all chemical structures	Click column headers to sort
Ligand Sp. Action Value Parameter Reference peptide 22d Hs Binding 6.3 pKd 3 ⤷ pKd 6.3 (Kd 5.21x10-7 M) [3]

Immunopharmacology Comments

STUB1 acts as a pivotal negative regulator of interferon-γ-mediated immune functions, via destabilisation of the ligand-receptor complex [1-2].

Clinically-Relevant Mutations and Pathophysiology
Disease:  Spinocerebellar ataxia 48: SCA48, autosomal dominant Description: An autosomal dominant neurodegenerative disorder that is characterised by the onset of gait ataxia and/or cognitive-affective symptoms in midadulthood. Caused by heterozygous mutations in the STUB1 gene concurrently with an expanded repeat allele of the TBP gene. OMIM: 618093
Disease:  Spinocerebellar ataxia, autosomal recessive 16; SCAR16 Description: SCAR16 is caused by homozygous or compound heterozygous mutation in the STUB1 gene. It is a progressive neurologic disorder that is characterised by truncal and limb ataxia rhat cause gait instability and which is associated with cerebellar atrophy. Onset is generally in teenagers. There are some overlapping features with SCA48. OMIM: 615768