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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 Gene Expression and Development NOTCH1-mediated pathway for NF-KB activity modulation. Gene Ontology (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

Additional gene information for SAP130 Gene

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

Genomics for SAP130 Gene

GeneHancer (GH) Regulatory Elements for SAP130 Gene

Promoters and enhancers for SAP130 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH02I128026 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 566.6 +0.3 342 3.1 HDGF PKNOX1 ARID4B SIN3A YY1 POLR2B ZNF766 E2F8 ZNF207 ZNF143 SAP130 POLR2D AMMECR1L WDR33 LIMS2 UGGT1 MYO7B GC02P127983
GH02I128090 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 36.6 -63.3 -63281 2.4 HDGF FOXA2 SMAD1 ARNT ARID4B SIN3A DMAP1 ZNF2 YY1 SLC30A9 UGGT1 AMMECR1L WDR33 SAP130 ERCC3 MAP3K2 GC02P128122 GC02P127983
GH02I127293 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 15.8 +733.9 733863 2.2 PKNOX1 SMAD1 MLX ARNT ARID4B SIN3A DMAP1 ZBTB7B YY1 SLC30A9 ERCC3 POLR2D SAP130 AMMECR1L WDR33 GC02M127297
GH02I127883 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 13.9 +141.9 141940 4.5 HDGF ATF1 FOXA2 SMAD1 ARNT ARID4B SIN3A DMAP1 ZNF2 ZNF48 AMMECR1L ENSG00000272667 GC02P127896 PIR57738 WDR33 SAP130 MAP3K2 ERCC3 CYP27C1 GC02P127874
GH02I127215 Promoter/Enhancer 1.5 FANTOM5 Ensembl ENCODE 10.5 +809.5 809452 5.7 MAX SIN3A ZNF384 ZNF507 ZNF335 CTBP1 GATA3 GLIS2 POLR2A PATZ1 ENSG00000236682 ERCC3 WDR33 AMMECR1L MAP3K2 ENSG00000231731 SAP130 CYP27C1 GC02P127197
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around SAP130 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the SAP130 gene promoter:

Genomic Locations for SAP130 Gene

Genomic Locations for SAP130 Gene
chr2:127,941,217-128,028,120
(GRCh38/hg38)
Size:
86,904 bases
Orientation:
Minus strand
chr2:128,698,791-128,785,694
(GRCh37/hg19)

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

Gene Families for SAP130 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

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

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.

Phenotypes From GWAS Catalog for SAP130 Gene

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

Clone Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , 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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for SAP130 gene
Compartment Confidence
nucleus 5
cytosol 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nuclear speckles (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for SAP130 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
GO:0016607 nuclear speck IDA --
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 by RNA polymerase II IMP 22783022
GO:0006351 transcription, DNA-templated IEA --
GO:0006355 regulation of transcription, DNA-templated IEA --
genes like me logo Genes that share ontologies with SAP130: view

No data available for SIGNOR curated interactions for SAP130 Gene

Drugs & Compounds for SAP130 Gene

No Compound Related Data Available

Transcripts for SAP130 Gene

Unigene Clusters for SAP130 Gene

Sin3A-associated protein, 130kDa:
Representative Sequences:

Clone 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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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.

Evidence on tissue expression from TISSUES for SAP130 Gene

  • Liver(4.2)
  • Nervous system(3.1)
genes like me logo Genes that share expression patterns with SAP130: view

No data available for mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer 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 33 34
  • 99.63 (n)
oppossum
(Monodelphis domestica)
Mammalia SAP130 34
  • 93 (a)
OneToOne
dog
(Canis familiaris)
Mammalia SAP130 33 34
  • 91.72 (n)
cow
(Bos Taurus)
Mammalia SAP130 33 34
  • 90.67 (n)
mouse
(Mus musculus)
Mammalia Sap130 33 16 34
  • 88.35 (n)
rat
(Rattus norvegicus)
Mammalia Sap130 33
  • 87.36 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia SAP130 34
  • 84 (a)
OneToOne
chicken
(Gallus gallus)
Aves SAP130 33 34
  • 78.4 (n)
lizard
(Anolis carolinensis)
Reptilia SAP130 34
  • 81 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100127690 33
  • 67.32 (n)
Str.15929 33
African clawed frog
(Xenopus laevis)
Amphibia Xl.15283 33
zebrafish
(Danio rerio)
Actinopterygii sap130b 33 34
  • 64.57 (n)
sap130a 34
  • 59 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta Sap130 34
  • 18 (a)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 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 Variation AA Info Type
rs1000029976 -- 127,975,425(-) T/C intron_variant
rs1000110688 -- 128,016,658(-) C/T intron_variant
rs1000129196 -- 128,022,778(-) C/T intron_variant
rs1000150497 -- 128,020,163(-) T/C intron_variant
rs1000182219 -- 128,019,831(-) A/T 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)

Additional Variant Information 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

Additional Disease Information for SAP130

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

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 TC … Ayer DE (Molecular and cellular biology 2003) 2 3 4 22 58
  2. Toward 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 research 2001) 2 3 4 58
  3. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 44 58
  4. Generation and annotation of the DNA sequences of human chromosomes 2 and 4. (PMID: 15815621) Hillier LW … Wilson RK (Nature 2005) 3 4 58
  5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 58

Products for SAP130 Gene

Sources for SAP130 Gene

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