Aliases for SAP30BP Gene

Aliases for SAP30BP Gene

  • SAP30 Binding Protein 2 3 5
  • HCNGP 2 3 4
  • HTRG 2 3 4
  • HTRP 2 3 4
  • Transcriptional Regulator Protein HCNGP 3 4
  • SAP30-Binding Protein 3 4
  • HSV-1 Binding 3
  • SAP30BP 5

External Ids for SAP30BP Gene

Previous GeneCards Identifiers for SAP30BP Gene

  • GC17P071175
  • GC17P073663
  • GC17P069087

Summaries for SAP30BP Gene

GeneCards Summary for SAP30BP Gene

SAP30BP (SAP30 Binding Protein) is a Protein Coding gene. Diseases associated with SAP30BP include Hypertensive Retinopathy and Omsk Hemorrhagic Fever. Among its related pathways are Activated PKN1 stimulates transcription of AR (androgen receptor) regulated genes KLK2 and KLK3 and Gene Expression.

UniProtKB/Swiss-Prot Summary for SAP30BP Gene

  • Induces cell death. May act as a transcriptional corepressor of a gene related to cell survival. May be involved in the regulation of beta-2-microglobulin genes.

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for SAP30BP Gene

Genomics for SAP30BP Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for SAP30BP 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
GH17J075665 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 611.3 +0.2 202 3.1 SP1 HNRNPL CREB1 ATF7 PRDM10 ZNF629 POLR2A TARDBP ZHX2 JUND RECQL5 SAP30BP piR-43164-031 UNK ENSG00000267342 NUP85 GGA3 SNHG16 NAT9 ENSG00000267546
GH17J076380 Promoter/Enhancer 2.4 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 37.5 +716.8 716845 7.3 RNF2 HNRNPL GATAD2A CTCF PRDM10 ZNF629 TFE3 SOX13 IKZF1 NFKBIZ SPHK1 PRPSAP1 UNK SRSF2 ENSG00000267342 ENSG00000266980 TRIM65 ENSG00000267546 SAP30BP METTL23
GH17J075776 Promoter/Enhancer 2.8 UCNEbase EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 28.9 +114.8 114774 11.6 RNF2 ARHGAP35 SP1 HNRNPL CREB1 GATAD2A CTCF ZBTB33 ARID3A TEAD4 UNK SRSF2 NUP85 NT5C ENSG00000267342 TRIM65 ENSG00000266980 GGA3 ENSG00000267546 METTL23
GH17J076258 Promoter/Enhancer 2.6 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 20.6 +600.9 600859 19.6 ARHGAP35 SP1 HNRNPL CREB1 GATAD2A ATF7 PRDM10 ZNF629 TFE3 LEF1 UBALD2 UNK ENSG00000267342 SRSF2 TRIM65 ENSG00000267546 ENSG00000266980 EXOC7 RNF157 PRPSAP1
GH17J076497 Promoter/Enhancer 2.6 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 19.7 +832.7 832721 5.7 ARHGAP35 HNRNPL CREB1 GATAD2A ZBTB33 PRDM10 ZNF629 TFE3 SOX13 NFKBIZ RHBDF2 lnc-CYGB-4 lnc-UBE2O-2 UNK ENSG00000267342 SRSF2 ENSG00000267546 SAP30BP TRIM65 ENSG00000267543
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around SAP30BP on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for SAP30BP

Top Transcription factor binding sites by QIAGEN in the SAP30BP gene promoter:
  • ATF6
  • C/EBPalpha
  • CREB
  • deltaCREB
  • HTF
  • POU3F2
  • POU3F2 (N-Oct-5a)
  • POU3F2 (N-Oct-5b)
  • RFX1

Genomic Locations for SAP30BP Gene

Genomic Locations for SAP30BP Gene
chr17:75,667,116-75,708,062
(GRCh38/hg38)
Size:
40,947 bases
Orientation:
Plus strand
chr17:73,663,196-73,704,142
(GRCh37/hg19)
Size:
40,947 bases
Orientation:
Plus strand

Genomic View for SAP30BP Gene

Genes around SAP30BP on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SAP30BP Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SAP30BP Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SAP30BP Gene

Proteins for SAP30BP Gene

  • Protein details for SAP30BP Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9UHR5-S30BP_HUMAN
    Recommended name:
    SAP30-binding protein
    Protein Accession:
    Q9UHR5
    Secondary Accessions:
    • B3KML7
    • Q8N1R5
    • Q8TDR8
    • Q96D27

    Protein attributes for SAP30BP Gene

    Size:
    308 amino acids
    Molecular mass:
    33870 Da
    Quaternary structure:
    • Interacts with SAP30.

    Alternative splice isoforms for SAP30BP Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for SAP30BP Gene

Post-translational modifications for SAP30BP Gene

  • Ubiquitination at Lys144
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for SAP30BP Gene

Domains & Families for SAP30BP Gene

Gene Families for SAP30BP Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for SAP30BP Gene

InterPro:
Blocks:
  • HCNGP-like
ProtoNet:

Suggested Antigen Peptide Sequences for SAP30BP Gene

GenScript: Design optimal peptide antigens:
  • Transcriptional regulator protein HCNGP (S30BP_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q9UHR5

UniProtKB/Swiss-Prot:

S30BP_HUMAN :
  • Belongs to the HCNGP family.
Family:
  • Belongs to the HCNGP family.
genes like me logo Genes that share domains with SAP30BP: view

Function for SAP30BP Gene

Molecular function for SAP30BP Gene

UniProtKB/Swiss-Prot Function:
Induces cell death. May act as a transcriptional corepressor of a gene related to cell survival. May be involved in the regulation of beta-2-microglobulin genes.
UniProtKB/Swiss-Prot Induction:
In fibroblasts by binding of HSV1.

Phenotypes From GWAS Catalog for SAP30BP Gene

Gene Ontology (GO) - Molecular Function for SAP30BP Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 9651585
genes like me logo Genes that share ontologies with SAP30BP: view
genes like me logo Genes that share phenotypes with SAP30BP: view

Animal Model Products

CRISPR Products

miRNA for SAP30BP Gene

miRTarBase miRNAs that target SAP30BP

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SAP30BP

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for SAP30BP Gene

Localization for SAP30BP Gene

Subcellular locations from UniProtKB/Swiss-Prot for SAP30BP 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 SAP30BP gene
Compartment Confidence
nucleus 5
cytoskeleton 4
cytosol 2
plasma membrane 1
extracellular 1
mitochondrion 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for SAP30BP Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IBA,IDA 9651585
GO:0005654 nucleoplasm IDA --
GO:0045111 intermediate filament cytoskeleton IDA --
genes like me logo Genes that share ontologies with SAP30BP: view

Pathways & Interactions for SAP30BP Gene

genes like me logo Genes that share pathways with SAP30BP: view

Gene Ontology (GO) - Biological Process for SAP30BP Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006355 regulation of transcription, DNA-templated IEA --
GO:0006915 apoptotic process IEA --
GO:0010942 positive regulation of cell death IDA 15496587
genes like me logo Genes that share ontologies with SAP30BP: view

No data available for SIGNOR curated interactions for SAP30BP Gene

Drugs & Compounds for SAP30BP Gene

(1) Drugs for SAP30BP Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
genes like me logo Genes that share compounds with SAP30BP: view

Transcripts for SAP30BP Gene

mRNA/cDNA for SAP30BP Gene

3 REFSEQ mRNAs :
18 NCBI additional mRNA sequence :
26 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SAP30BP

Alternative Splicing Database (ASD) splice patterns (SP) for SAP30BP Gene

ExUns: 1a · 1b · 1c · 1d ^ 2 ^ 3a · 3b ^ 4a · 4b ^ 5a · 5b ^ 6a · 6b ^ 7 ^ 8 ^ 9a · 9b ^ 10a · 10b ^ 11a · 11b · 11c · 11d ^ 12a · 12b ^ 13a ·
SP1: - - - - - - - - - - -
SP2: - - - - - - - - - - - -
SP3: - - - - - - - - - - - - - -
SP4: - - - - - - - - - - -
SP5: - - - - - - - - - - -
SP6: - - - -
SP7: - - - - - - - - -
SP8: - - - - - - - -
SP9: - - -
SP10: -
SP11: - -
SP12: - - - - - - -
SP13: -
SP14:
SP15: - - - - - - - - - - - - - - - - - - - - -
SP16: -

ExUns: 13b ^ 14 ^ 15 ^ 16a · 16b · 16c · 16d · 16e · 16f
SP1: - -
SP2: - -
SP3: - -
SP4: -
SP5:
SP6: - -
SP7:
SP8:
SP9:
SP10:
SP11:
SP12:
SP13: -
SP14: - -
SP15: - -
SP16:

Relevant External Links for SAP30BP Gene

GeneLoc Exon Structure for
SAP30BP

Expression for SAP30BP Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for SAP30BP Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for SAP30BP Gene

This gene is overexpressed in Peripheral blood mononuclear cells (17.5), Blymphocyte (11.2), and Fetal Brain (6.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for SAP30BP Gene



Protein tissue co-expression partners for SAP30BP Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for SAP30BP

SOURCE GeneReport for Unigene cluster for SAP30BP Gene:

Hs.655088

Evidence on tissue expression from TISSUES for SAP30BP Gene

  • Nervous system(4.5)
  • Liver(4.5)
  • Skin(2.4)
  • Lung(2)
genes like me logo Genes that share expression patterns with SAP30BP: view

No data available for mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for SAP30BP Gene

Orthologs for SAP30BP Gene

This gene was present in the common ancestor of animals.

Orthologs for SAP30BP Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia SAP30BP 30 31
  • 99.68 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia SAP30BP 30 31
  • 91.02 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia SAP30BP 30 31
  • 90.16 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Sap30bp 30 17 31
  • 89.83 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Sap30bp 30
  • 89.72 (n)
Platypus
(Ornithorhynchus anatinus)
Mammalia SAP30BP 31
  • 89 (a)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia SAP30BP 31
  • 85 (a)
OneToOne
Chicken
(Gallus gallus)
Aves SAP30BP 30 31
  • 78.39 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia SAP30BP 31
  • 80 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia sap30bp 30
  • 75.81 (n)
Str.7176 30
African clawed frog
(Xenopus laevis)
Amphibia Xl.8637 30
Zebrafish
(Danio rerio)
Actinopterygii sap30bp 30 31
  • 69.82 (n)
OneToOne
wufb33d03 30
Rainbow Trout
(Oncorhynchus mykiss)
Actinopterygii Omy.10416 30
Fruit Fly
(Drosophila melanogaster)
Insecta CG2063 31
  • 33 (a)
OneToOne
Worm
(Caenorhabditis elegans)
Secernentea Y67D2.7 31
  • 19 (a)
OneToOne
Species where no ortholog for SAP30BP was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Squirt (Ciona savignyi)
  • 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)

Evolution for SAP30BP Gene

ENSEMBL:
Gene Tree for SAP30BP (if available)
TreeFam:
Gene Tree for SAP30BP (if available)
Aminode:
Evolutionary constrained regions (ECRs) for SAP30BP: view image

Paralogs for SAP30BP Gene

(1) SIMAP similar genes for SAP30BP Gene using alignment to 10 proteins:

  • S30BP_HUMAN
  • F5H478_HUMAN
  • J3KRR6_HUMAN
  • J3KRU5_HUMAN
  • J3KS14_HUMAN
  • J3QKW0_HUMAN
  • J3QLH3_HUMAN
  • J3QLM2_HUMAN
  • J3QQJ0_HUMAN
  • J3QS04_HUMAN
genes like me logo Genes that share paralogs with SAP30BP: view

No data available for Paralogs for SAP30BP Gene

Variants for SAP30BP Gene

Additional dbSNP identifiers (rs#s) for SAP30BP Gene

Structural Variations from Database of Genomic Variants (DGV) for SAP30BP Gene

Variant ID Type Subtype PubMed ID
nsv470603 CNV loss 18288195
nsv516133 CNV loss 19592680
nsv576027 CNV gain 21841781
nsv833543 CNV loss 17160897
nsv833544 CNV loss 17160897

Variation tolerance for SAP30BP Gene

Residual Variation Intolerance Score: 26.1% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for SAP30BP Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
SAP30BP

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for SAP30BP Gene

Disorders for SAP30BP Gene

MalaCards: The human disease database

(4) MalaCards diseases for SAP30BP Gene - From: DISEASES

Disorder Aliases PubMed IDs
hypertensive retinopathy
omsk hemorrhagic fever
  • ohf
alveoli adenoma
  • adenoma of alveoli
bronchial benign neoplasm
  • bronchus neoplasm
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for SAP30BP

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
genes like me logo Genes that share disorders with SAP30BP: view

No data available for UniProtKB/Swiss-Prot and Genatlas for SAP30BP Gene

Publications for SAP30BP Gene

  1. HTRP--an immediate-early gene product induced by HSV1 infection in human embryo fibroblasts, is involved in cellular co-repressors. (PMID: 15496587) Li JF … Li QH (Journal of biochemistry 2004) 2 3 4 23
  2. Use of genome-wide expression data to mine the "Gray Zone" of GWA studies leads to novel candidate obesity genes. (PMID: 20532202) Naukkarinen J … ENGAGE Consortium (PLoS genetics 2010) 3 41
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4
  4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4
  5. Gene expression profiling in the human hypothalamus-pituitary-adrenal axis and full-length cDNA cloning. (PMID: 10931946) Hu RM … Chen JL (Proceedings of the National Academy of Sciences of the United States of America 2000) 3 4

Products for SAP30BP Gene

Sources for SAP30BP Gene