SPOP
Speckle-type POZ protein
Also known as: BTBD32, SPOP_HUMAN, TEF2
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- O43791
- Gene
- SPOP
- Ensembl
- ENSG00000121067
- Chromosome
- 17
- Canonical length
- 374 aa
- Protein class
- Cancer-related genes, Disease related genes, Human disease related genes, Predicted intracellular proteins
- Quaternary structure
- Homodimer
OverviewNCBI Gene
This gene encodes a protein that may modulate the transcriptional repression activities of death-associated protein 6 (DAXX), which interacts with histone deacetylase, core histones, and other histone-associated proteins. In mouse, the encoded protein binds to the putative leucine zipper domain of macroH2A1.2, a variant H2A histone that is enriched on inactivated X chromosomes. The BTB/POZ domain of this protein has been shown in other proteins to mediate transcriptional repression and to interact with components of histone deacetylase co-repressor complexes. Alternative splicing of this gene results in multiple transcript variants encoding the same protein. [provided by RefSeq, Jul 2008]
Canonical amino-acid sequenceUniProt
374 residues, UniProt reviewed canonical sequence.
>O43791|SPOP
1 MSRVPSPPPP AEMSSGPVAE SWCYTQIKVV KFSYMWTINN FSFCREEMGE VIKSSTFSSG
61 ANDKLKWCLR VNPKGLDEES KDYLSLYLLL VSCPKSEVRA KFKFSILNAK GEETKAMESQ
121 RAYRFVQGKD WGFKKFIRRD FLLDEANGLL PDDKLTLFCE VSVVQDSVNI SGQNTMNMVK
181 VPECRLADEL GGLWENSRFT DCCLCVAGQE FQAHKAILAA RSPVFSAMFE HEMEESKKNR
241 VEINDVEPEV FKEMMCFIYT GKAPNLDKMA DDLLAAADKY ALERLKVMCE DALCSNLSVE
301 NAAEILILAD LHSADQLKTQ AVDFINYHAS DVLETSGWKS MVVSHPHLVA EAYRSLASAQ
361 CPFLGPPRKR LKQSLocalizationUniProt · AlphaFold · HPA
Whether an antibody against SPOP can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.
- Antibody reachability
- Intracellular
- Secreted
- No
- Transmembrane segments
- 0
- Mean surface accessibility (rSASA)
- 0.33
- Highest tissue expression
- 81 nTPM
Expression across tissuesHPA
Tissue
- colon: 81 nTPM
- seminal vesicle: 77 nTPM
- smooth muscle: 73 nTPM
- blood vessel: 63 nTPM
- prostate: 61 nTPM
- skeletal muscle: 53 nTPM
Single-cell type
- myonuclei: 313 nCPM
- alveolar cells type 1: 229 nCPM
- choroid plexus epithelial cells: 193 nCPM
- neutrophils: 189 nCPM
- smooth muscle cells: 188 nCPM
- pituicytes/fscs: 172 nCPM
Immune cell
- basophil: 145 nTPM
- neutrophil: 108 nTPM
- naive CD4 T-cell: 98 nTPM
- eosinophil: 93 nTPM
- total PBMC: 92 nTPM
- myeloid DC: 92 nTPM
Brain region
- cerebellum: 91 nTPM
- white matter: 77 nTPM
- hypothalamus: 68 nTPM
- basal ganglia: 66 nTPM
- choroid plexus: 65 nTPM
- hippocampal formation: 63 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about SPOP.
Disease | AllUniProt
Conditions SPOP is implicated in, by any mechanism.
- Nabais Sa-de Vries syndrome 1 (NSDVS1) MIM:618828
- Nabais Sa-de Vries syndrome 2 (NSDVS2) MIM:618829
Disease | GeneticClinVar
12 pathogenic / likely-pathogenic of 243 ClinVar records.
Conditions with pathogenic or likely-pathogenic variants.
- Neurodevelopmental disorder with relative macrocephaly and with or without cardiac or endocrine anomalies
- Neurodevelopmental disorder with microcephaly and dysmorphic facies
- Inborn genetic diseases
- SPOP-related neurodevelopmental condition
- SPOP-related disorder
Genetic constraint and essentialitygnomAD · DepMap
Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.
- gnomAD LOEUF (loss-of-function intolerance)
- 0.14
- gnomAD pLI
- 1
- gnomAD missense Z
- 4.14
- DepMap mean gene effect
- -0.1
- DepMap dependency class
- selective
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 6% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
- proteasome-mediated ubiquitin-dependent protein catabolic process
- protein polyubiquitination
- regulation of proteolysis
Molecular functions
Cellular components
Protein domainsUniProt · Pfam · InterPro
- BTB/POZ domain
- MATH/TRAF domain
- TRAF-like
- SKP1/BTB/POZ domain superfamily
- BTB/POZ domain
- MATH domain
- SPOP, C-terminal BACK domain
- BPM/SPOP, BACK domain
- BPM/SPOP, BACK domain
KeywordsUniProt
InteractionsUniProt · HPA
Protein binding partners of SPOP in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads SPOP as an antibody target. Whether an autoantibody or antibody against SPOP could matter depends on whether native SPOP is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
SPOP is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.
Annotation status
The present source text does not explicitly label SPOP as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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