Human Gene SPOP (uc002ipf.3) Description and Page Index
Description: Homo sapiens speckle-type POZ protein (SPOP), transcript variant 6, mRNA. RefSeq Summary (NM_001007229): 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]. Transcript (Including UTRs) Position: hg19 chr17:47,676,246-47,755,525 Size: 79,280 Total Exon Count: 11 Strand: - Coding Region Position: hg19 chr17:47,677,740-47,700,172 Size: 22,433 Coding Exon Count: 9
ID:SPOP_HUMAN DESCRIPTION: RecName: Full=Speckle-type POZ protein; AltName: Full=HIB homolog 1; AltName: Full=Roadkill homolog 1; FUNCTION: Inhibits IPF1/PDX1 transactivation of established target promoters, such as insulin, may be by recruiting a repressor complex (By similarity). In complex with CUL3, involved in ubiquitination of BMI1, H2AFY and DAXX, and probably also in ubiquitination and proteasomal degradation of Gli2 or Gli3. PATHWAY: Protein modification; protein ubiquitination. SUBUNIT: Homodimer. Part of a complex consisting of BMI1, CUL3 and SPOP. Part of a complex consisting of H2AFY, CUL3 and SPOP. Part of a complex consisting of DAXX, CUL3 and SPOP. Interacts with H2AFY, IPF1/PDX1, BMI1 and DAXX. Interacts with CUL3. INTERACTION: Q13618:CUL3; NbExp=2; IntAct=EBI-743549, EBI-456129; Q9UER7:DAXX; NbExp=5; IntAct=EBI-743549, EBI-77321; Q99836:MYD88; NbExp=6; IntAct=EBI-743549, EBI-447677; Q9Y6Q9:NCOA3; NbExp=6; IntAct=EBI-743549, EBI-81196; SUBCELLULAR LOCATION: Nucleus. TISSUE SPECIFICITY: Widely expressed. DOMAIN: The MATH domain interacts with H2AFY and BMI1. MISCELLANEOUS: Antigen recognized by serum from scleroderma patient. SIMILARITY: Belongs to the Tdpoz family. SIMILARITY: Contains 1 BTB (POZ) domain. SIMILARITY: Contains 1 MATH domain.
Genetic Association Studies of Complex Diseases and Disorders
Genetic Association Database (archive): SPOP CDC HuGE Published Literature: SPOP Positive Disease Associations: Heart Failure Related Studies:
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on O43791
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.
Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
Biological Process: GO:0000122 negative regulation of transcription from RNA polymerase II promoter GO:0006511 ubiquitin-dependent protein catabolic process GO:0016567 protein ubiquitination GO:0030162 regulation of proteolysis GO:0042593 glucose homeostasis GO:0043161 proteasome-mediated ubiquitin-dependent protein catabolic process GO:0043433 negative regulation of sequence-specific DNA binding transcription factor activity GO:1902237 positive regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway GO:2000676 positive regulation of type B pancreatic cell apoptotic process