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Aliases for SAP130 Gene

Aliases for SAP130 Gene

  • Sin3A Associated Protein 130 2 3 5
  • 130 KDa Sin3-Associated Polypeptide 4
  • Sin3A-Associated Protein, 130kDa 2
  • Sin3-Associated Polypeptide P130 4

External Ids for SAP130 Gene

Previous GeneCards Identifiers for SAP130 Gene

  • GC02M128603
  • GC02M128792
  • GC02M128415
  • GC02M121004

Summaries for SAP130 Gene

Entrez Gene Summary for SAP130 Gene

  • SAP130 is a subunit of the histone deacetylase (see HDAC1; MIM 601241)-dependent SIN3A (MIM 607776) corepressor complex (Fleischer et al., 2003 [PubMed 12724404]).[supplied by OMIM, Mar 2008]

GeneCards Summary for SAP130 Gene

SAP130 (Sin3A Associated Protein 130) is a Protein Coding gene. Among its related pathways are Activated PKN1 stimulates transcription of AR (androgen receptor) regulated genes KLK2 and KLK3 and Chromatin organization. GO annotations related to this gene include transcription coactivator activity and histone acetyltransferase activity.

UniProtKB/Swiss-Prot for SAP130 Gene

  • Acts as a transcriptional repressor. May function in the assembly and/or enzymatic activity of the mSin3A corepressor complex or in mediating interactions between the complex and other regulatory complexes.

Gene Wiki entry for SAP130 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SAP130 Gene

Genomics for SAP130 Gene

Regulatory Elements for SAP130 Gene

Enhancers for SAP130 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH02F128004 0.3 FANTOM5 12.5 +23.9 23915 0.4 SAP130 GC02P127983
GH02F128063 0.4 ENCODE 12.3 -35.5 -35472 0.1 ELF3 DRAP1 CTCF PKNOX1 TFAP4 SAP130 ARID4B MAX ZNF48 ZSCAN9 UGGT1 SAP130 ENSG00000234044
GH02F128090 0.2 ENCODE 11.9 -63.3 -63261 1.9 HDGF CREB3L1 ARID4B SIN3A DMAP1 ZNF2 YY1 SLC30A9 ZNF207 ZNF143 UGGT1 SAP130 AMMECR1L WDR33 GC02P128122
GH02F128026 0.4 ENCODE 0.8 +0.3 342 3.1 HDGF ATF1 PKNOX1 CREB3L1 ARID4B SIN3A ZNF48 ETS1 YY1 GLIS2 AMMECR1L LIMS2 MYO7B UGGT1 SAP130 GC02P127983
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

Enhancers around SAP130 on UCSC Golden Path with GeneCards custom track

Promoters for SAP130 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000303929 320 2801 HDGF ATF1 CREB3L1 ARID4B SIN3A ZNF48 ETS1 YY1 GLIS2 ZNF143

Genomic Location for SAP130 Gene

Chromosome:
2
Start:
127,941,217 bp from pter
End:
128,028,120 bp from pter
Size:
86,904 bases
Orientation:
Minus strand

Genomic View for SAP130 Gene

Genes around SAP130 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SAP130 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SAP130 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SAP130 Gene

Proteins for SAP130 Gene

  • Protein details for SAP130 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9H0E3-SP130_HUMAN
    Recommended name:
    Histone deacetylase complex subunit SAP130
    Protein Accession:
    Q9H0E3
    Secondary Accessions:
    • B7ZLM3
    • C9K0X9
    • Q4ZFV4
    • Q53T46
    • Q8WVW4
    • Q9H9G8

    Protein attributes for SAP130 Gene

    Size:
    1048 amino acids
    Molecular mass:
    110324 Da
    Quaternary structure:
    • Component of a mSin3A corepressor complex that contains SIN3A, SAP130, SUDS3/SAP45, ARID4B/SAP180, HDAC1 and HDAC2. Interacts (released by dead or dying cells) with CLEC4E (By similarity).

    Alternative splice isoforms for SAP130 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for SAP130 Gene

Post-translational modifications for SAP130 Gene

No data available for DME Specific Peptides for SAP130 Gene

Domains & Families for SAP130 Gene

Protein Domains for SAP130 Gene

Graphical View of Domain Structure for InterPro Entry

Q9H0E3

UniProtKB/Swiss-Prot:

SP130_HUMAN :
  • The N-terminus may interact with a transcriptional coactivator.
  • Belongs to the SAP130 family.
Domain:
  • The N-terminus may interact with a transcriptional coactivator.
  • The C-terminus may interact with HDAC-dependent and HDAC-independent corepressors.
Family:
  • Belongs to the SAP130 family.
genes like me logo Genes that share domains with SAP130: view

No data available for Gene Families for SAP130 Gene

Function for SAP130 Gene

Molecular function for SAP130 Gene

UniProtKB/Swiss-Prot Function:
Acts as a transcriptional repressor. May function in the assembly and/or enzymatic activity of the mSin3A corepressor complex or in mediating interactions between the complex and other regulatory complexes.

Gene Ontology (GO) - Molecular Function for SAP130 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003713 transcription coactivator activity IDA 11564863
GO:0004402 contributes_to histone acetyltransferase activity IDA 11564863
genes like me logo Genes that share ontologies with SAP130: view
genes like me logo Genes that share phenotypes with SAP130: view

Animal Models for SAP130 Gene

MGI Knock Outs for SAP130:

Animal Model Products

miRNA for SAP130 Gene

miRTarBase miRNAs that target SAP130

Inhibitory RNA Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for SAP130 Gene

Localization for SAP130 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SAP130 Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for SAP130 Gene COMPARTMENTS Subcellular localization image for SAP130 gene
Compartment Confidence
nucleus 5
cytosol 1

Gene Ontology (GO) - Cellular Components for SAP130 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
GO:0005654 nucleoplasm IDA --
GO:0030914 STAGA complex IDA 11564863
GO:0070822 Sin3-type complex IBA --
genes like me logo Genes that share ontologies with SAP130: view

Pathways & Interactions for SAP130 Gene

genes like me logo Genes that share pathways with SAP130: view

Gene Ontology (GO) - Biological Process for SAP130 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000122 negative regulation of transcription from RNA polymerase II promoter IMP 22783022
GO:0006351 transcription, DNA-templated IEA --
GO:0006355 regulation of transcription, DNA-templated IEA --
GO:0043966 histone H3 acetylation IDA 11564863
genes like me logo Genes that share ontologies with SAP130: view

No data available for SIGNOR curated interactions for SAP130 Gene

Transcripts for SAP130 Gene

Unigene Clusters for SAP130 Gene

Sin3A-associated protein, 130kDa:
Representative Sequences:

Inhibitory RNA Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for SAP130 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6a · 6b ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12a · 12b ^ 13 ^ 14a · 14b ^ 15 ^ 16a · 16b · 16c · 16d ^ 17a · 17b ^ 18 ^ 19 ^
SP1: - -
SP2: - - -
SP3: - -
SP4: -
SP5: -
SP6: -
SP7: - - - - - - - - - - - -
SP8: - - -
SP9: - -
SP10: -
SP11:

ExUns: 20a · 20b · 20c · 20d ^ 21a · 21b ^ 22a · 22b ^ 23 ^ 24 ^ 25a · 25b
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:
SP11:

Relevant External Links for SAP130 Gene

GeneLoc Exon Structure for
SAP130
ECgene alternative splicing isoforms for
SAP130

Expression for SAP130 Gene

mRNA expression in normal human tissues for SAP130 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for SAP130 Gene

This gene is overexpressed in CD8 Tcells (15.9) and Lymph node (9.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for SAP130 Gene



Protein tissue co-expression partners for SAP130 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of SAP130 Gene:

SAP130

SOURCE GeneReport for Unigene cluster for SAP130 Gene:

Hs.32995

mRNA Expression by UniProt/SwissProt for SAP130 Gene:

Q9H0E3-SP130_HUMAN
Tissue specificity: Expressed in various cancer cell ines.
genes like me logo Genes that share expression patterns with SAP130: view

Primer Products

No data available for mRNA differential expression in normal tissues for SAP130 Gene

Orthologs for SAP130 Gene

This gene was present in the common ancestor of animals.

Orthologs for SAP130 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia SAP130 34 35
  • 99.63 (n)
oppossum
(Monodelphis domestica)
Mammalia SAP130 35
  • 93 (a)
OneToOne
dog
(Canis familiaris)
Mammalia SAP130 34 35
  • 91.72 (n)
cow
(Bos Taurus)
Mammalia SAP130 34 35
  • 90.67 (n)
mouse
(Mus musculus)
Mammalia Sap130 34 16 35
  • 88.35 (n)
rat
(Rattus norvegicus)
Mammalia Sap130 34
  • 87.36 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia SAP130 35
  • 84 (a)
OneToOne
chicken
(Gallus gallus)
Aves SAP130 34 35
  • 78.4 (n)
lizard
(Anolis carolinensis)
Reptilia SAP130 35
  • 81 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100127690 34
  • 67.32 (n)
Str.15929 34
African clawed frog
(Xenopus laevis)
Amphibia Xl.15283 34
zebrafish
(Danio rerio)
Actinopterygii sap130b 34 35
  • 64.57 (n)
sap130a 35
  • 59 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta Sap130 35
  • 18 (a)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 26 (a)
OneToOne
Species where no ortholog for SAP130 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for SAP130 Gene

ENSEMBL:
Gene Tree for SAP130 (if available)
TreeFam:
Gene Tree for SAP130 (if available)

Paralogs for SAP130 Gene

No data available for Paralogs for SAP130 Gene

Variants for SAP130 Gene

Sequence variations from dbSNP and Humsavar for SAP130 Gene

SNP ID Clin Chr 02 pos Sequence Context AA Info Type
rs10084285 -- 128,029,985(+) tgtgt(A/G)tatat upstream-variant-2KB
rs10164600 -- 127,979,546(+) tatta(A/G)ctaat intron-variant
rs10166905 -- 128,022,599(+) tttgc(A/G)ctaca intron-variant
rs10168353 -- 127,959,553(+) aatgc(A/C)ccctc intron-variant
rs10173866 -- 127,966,311(+) ttgta(C/T)tccag intron-variant

Structural Variations from Database of Genomic Variants (DGV) for SAP130 Gene

Variant ID Type Subtype PubMed ID
esv1357413 CNV deletion 17803354
esv2720731 CNV deletion 23290073
esv2720732 CNV deletion 23290073
esv2720733 CNV deletion 23290073
esv2720734 CNV deletion 23290073
esv2720735 CNV deletion 23290073
esv3560106 CNV deletion 23714750
esv3592372 CNV loss 21293372
esv4100 CNV loss 18987735
nsv1072026 CNV deletion 25765185
nsv1072447 CNV deletion 25765185
nsv1118876 CNV deletion 24896259
nsv1123382 CNV deletion 24896259
nsv1136409 CNV deletion 24896259
nsv1153553 CNV deletion 26484159
nsv508865 CNV insertion 20534489
nsv834367 CNV loss 17160897

Variation tolerance for SAP130 Gene

Residual Variation Intolerance Score: 2.34% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.65; 31.67% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for SAP130 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
SAP130

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SAP130 Gene

Disorders for SAP130 Gene

Relevant External Links for SAP130

Genetic Association Database (GAD)
SAP130
Human Genome Epidemiology (HuGE) Navigator
SAP130
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
SAP130

No disorders were found for SAP130 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for SAP130 Gene

Publications for SAP130 Gene

  1. Identification and characterization of three new components of the mSin3A corepressor complex. (PMID: 12724404) Fleischer T.C. … Ayer D.E. (Mol. Cell. Biol. 2003) 2 3 4 22 64
  2. Towards a catalog of human genes and proteins: sequencing and analysis of 500 novel complete protein coding human cDNAs. (PMID: 11230166) Wiemann S. … Poustka A. (Genome Res. 2001) 2 3 4 64
  3. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose J.E. … Uhl G.R. (Mol. Med. 2010) 3 46 64
  4. Generation and annotation of the DNA sequences of human chromosomes 2 and 4. (PMID: 15815621) Hillier L.W. … Wilson R.K. (Nature 2005) 3 4 64
  5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4 64

Products for SAP130 Gene

Sources for SAP130 Gene

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