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Aliases for SIVA1 Gene

Aliases for SIVA1 Gene

  • SIVA1 Apoptosis Inducing Factor 2 3 5
  • CD27BP 3 4
  • SIVA 3 4
  • Apoptosis Regulatory Protein Siva 3
  • CD27-Binding (Siva) Protein 3
  • CD27-Binding Protein 4
  • Siva-1 3
  • Siva-2 3

External Ids for SIVA1 Gene

Previous GeneCards Identifiers for SIVA1 Gene

  • GC14P104291
  • GC14P105219
  • GC14P085416

Summaries for SIVA1 Gene

Entrez Gene Summary for SIVA1 Gene

  • This gene encodes a protein with an important role in the apoptotic (programmed cell death) pathway induced by the CD27 antigen, a member of the tumor necrosis factor receptor (TFNR) superfamily. The CD27 antigen cytoplasmic tail binds to the N-terminus of this protein. Two alternatively spliced transcript variants encoding distinct proteins have been described. [provided by RefSeq, Jul 2008]

GeneCards Summary for SIVA1 Gene

SIVA1 (SIVA1 Apoptosis Inducing Factor) is a Protein Coding gene. Diseases associated with SIVA1 include Scapuloperoneal Myopathy. Among its related pathways are TNFR1 Pathway and Apoptosis Modulation and Signaling. Gene Ontology (GO) annotations related to this gene include virus receptor activity and CD27 receptor binding.

UniProtKB/Swiss-Prot for SIVA1 Gene

  • Induces CD27-mediated apoptosis. Inhibits BCL2L1 isoform Bcl-x(L) anti-apoptotic activity. Inhibits activation of NF-kappa-B and promotes T-cell receptor-mediated apoptosis.

Gene Wiki entry for SIVA1 Gene

Additional gene information for SIVA1 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SIVA1 Gene

Genomics for SIVA1 Gene

GeneHancer (GH) Regulatory Elements for SIVA1 Gene

Promoters and enhancers for SIVA1 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
GH14I104751 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE dbSUPER 555.9 +1.5 1541 4.1 HDGF PKNOX1 ARID4B NEUROD1 SIN3A DMAP1 ZBTB7B YY1 POLR2B E2F8 SIVA1 AKT1 MTA1 BRF1 ENSG00000257270 RPS20P33 CDCA4 PPP1R13B LOC102723342
GH14I104745 Enhancer 1.3 Ensembl ENCODE dbSUPER 15.2 -4.1 -4077 4.9 ELF3 FOXA2 NFIB MLX ARID4B ZNF48 RAD21 RARA YY1 FOS AKT1 SIVA1 CEP170B ENSG00000256050 PPP1R13B ADSSL1
GH14I104696 Enhancer 1.6 FANTOM5 Ensembl ENCODE dbSUPER 11.7 -53.4 -53447 4.1 PKNOX1 ATF1 ARNT TCF12 GATA2 ZNF143 ATF7 ZNF263 NCOA1 ZNF592 ADSSL1 SIVA1 INF2 AKT1 C14orf180 ENSG00000258858 GC14M104689
GH14I104709 Enhancer 1 ENCODE dbSUPER 12.2 -43.5 -43549 1.6 CTCF RB1 ZNF449 MAX SIN3A IRF4 RAD21 RELA HIC1 ZFHX2 GC14M104689 ENSG00000256050 SIVA1 INF2 ADSSL1
GH14I104786 Enhancer 1 Ensembl ENCODE dbSUPER 11.9 +34.9 34914 2.4 KLF1 ZBTB8A ZIC2 GABPA HIC1 ZFHX2 GLIS2 ZNF692 POLR2A GLIS1 SIVA1 ZBTB42 AKT1 ENSG00000258430
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around SIVA1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the SIVA1 gene promoter:

Genomic Locations for SIVA1 Gene

Genomic Locations for SIVA1 Gene
chr14:104,752,420-104,768,494
(GRCh38/hg38)
Size:
16,075 bases
Orientation:
Plus strand
chr14:105,219,437-105,234,831
(GRCh37/hg19)

Genomic View for SIVA1 Gene

Genes around SIVA1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SIVA1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SIVA1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SIVA1 Gene

Proteins for SIVA1 Gene

  • Protein details for SIVA1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O15304-SIVA_HUMAN
    Recommended name:
    Apoptosis regulatory protein Siva
    Protein Accession:
    O15304
    Secondary Accessions:
    • Q96P98
    • Q9UPD6

    Protein attributes for SIVA1 Gene

    Size:
    175 amino acids
    Molecular mass:
    18695 Da
    Cofactor:
    Name=Zn(2+); Xref=ChEBI:CHEBI:29105;
    Quaternary structure:
    • Binds through its N-terminal region to the C-terminus of CD27 and to PXMP2/PMP22. Binds to the C-terminus of TNFRSF18/GITR. Isoform 1 binds to BCL2L1/BCLX isoform Bcl-x(L) but not to BAX. Binds to capsid protein VP2 from coxsackievirus B3. Binding of SIVA1 to CD27 can be blocked by VP2.
    SequenceCaution:
    • Sequence=AAC51372.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=AAD50057.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Alternative splice isoforms for SIVA1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for SIVA1 Gene

Post-translational modifications for SIVA1 Gene

  • Phosphorylated by ABL2/ARG in response to oxidative stress.
  • Ubiquitination at posLast=1717, isoforms=41, and posLast=124124

Other Protein References for SIVA1 Gene

No data available for DME Specific Peptides for SIVA1 Gene

Domains & Families for SIVA1 Gene

Gene Families for SIVA1 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for SIVA1 Gene

InterPro:
Blocks:
ProtoNet:

Suggested Antigen Peptide Sequences for SIVA1 Gene

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with SIVA1: view

No data available for UniProtKB/Swiss-Prot for SIVA1 Gene

Function for SIVA1 Gene

Molecular function for SIVA1 Gene

UniProtKB/Swiss-Prot Function:
Induces CD27-mediated apoptosis. Inhibits BCL2L1 isoform Bcl-x(L) anti-apoptotic activity. Inhibits activation of NF-kappa-B and promotes T-cell receptor-mediated apoptosis.

Phenotypes From GWAS Catalog for SIVA1 Gene

Gene Ontology (GO) - Molecular Function for SIVA1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001618 virus receptor activity ISS --
GO:0005164 tumor necrosis factor receptor binding IEA --
GO:0005175 CD27 receptor binding IPI 9177220
GO:0005515 protein binding IPI 9177220
GO:0046872 metal ion binding IEA --
genes like me logo Genes that share ontologies with SIVA1: view
genes like me logo Genes that share phenotypes with SIVA1: view

Animal Models for SIVA1 Gene

MGI Knock Outs for SIVA1:

Animal Model Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for SIVA1 Gene

Localization for SIVA1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SIVA1 Gene

Cytoplasm. Nucleus. Note=In the nucleus, accumulates in dot-like structures.

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 SIVA1 gene
Compartment Confidence
mitochondrion 5
nucleus 5
cytosol 4
extracellular 1
peroxisome 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for SIVA1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
GO:0005654 nucleoplasm IDA --
GO:0005737 cytoplasm IEA --
genes like me logo Genes that share ontologies with SIVA1: view

Pathways & Interactions for SIVA1 Gene

genes like me logo Genes that share pathways with SIVA1: view

Pathways by source for SIVA1 Gene

2 Cell Signaling Technology pathways for SIVA1 Gene
1 GeneGo (Thomson Reuters) pathway for SIVA1 Gene
2 Qiagen pathways for SIVA1 Gene

SIGNOR curated interactions for SIVA1 Gene

Is activated by:

Gene Ontology (GO) - Biological Process for SIVA1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006915 apoptotic process IEA --
GO:0016032 viral process IEA --
GO:0046718 viral entry into host cell IEA --
GO:0097191 extrinsic apoptotic signaling pathway IDA 9177220
genes like me logo Genes that share ontologies with SIVA1: view

Drugs & Compounds for SIVA1 Gene

(1) Drugs for SIVA1 Gene - From: DrugBank

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Zinc Approved, Investigational Pharma Target 2430
genes like me logo Genes that share compounds with SIVA1: view

Transcripts for SIVA1 Gene

Unigene Clusters for SIVA1 Gene

SIVA1, apoptosis-inducing factor:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for SIVA1 Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5 ^ 6a · 6b
SP1: - -
SP2: -
SP3: - - -
SP4:

Relevant External Links for SIVA1 Gene

GeneLoc Exon Structure for
SIVA1
ECgene alternative splicing isoforms for
SIVA1

Expression for SIVA1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for SIVA1 Gene

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for SIVA1 Gene



NURSA nuclear receptor signaling pathways regulating expression of SIVA1 Gene:

SIVA1

SOURCE GeneReport for Unigene cluster for SIVA1 Gene:

Hs.112058

mRNA Expression by UniProt/SwissProt for SIVA1 Gene:

O15304-SIVA_HUMAN
Tissue specificity: Ubiquitous. Mostly expressed in thymus, testis, ovary, prostate, small intestine and spleen and less in colon.

Evidence on tissue expression from TISSUES for SIVA1 Gene

  • Liver(4.3)
  • Nervous system(3.4)
  • Lung(2.4)
  • Muscle(2.2)
genes like me logo Genes that share expression patterns with SIVA1: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein differential expression in normal tissues , Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for SIVA1 Gene

Orthologs for SIVA1 Gene

This gene was present in the common ancestor of chordates.

Orthologs for SIVA1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia SIVA1 33 34
  • 98.86 (n)
dog
(Canis familiaris)
Mammalia SIVA1 33
  • 83.24 (n)
cow
(Bos Taurus)
Mammalia SIVA1 33 34
  • 80.84 (n)
rat
(Rattus norvegicus)
Mammalia Siva1 33
  • 78.13 (n)
mouse
(Mus musculus)
Mammalia Siva1 33 16 34
  • 73.95 (n)
Gm16380 34
  • 66 (a)
OneToMany
oppossum
(Monodelphis domestica)
Mammalia SIVA1 34
  • 56 (a)
OneToOne
chicken
(Gallus gallus)
Aves SIVA1 33 34
  • 58.91 (n)
lizard
(Anolis carolinensis)
Reptilia SIVA1 34
  • 46 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia siva1 33
  • 56.12 (n)
zebrafish
(Danio rerio)
Actinopterygii siva1 33 34
  • 52.3 (n)
Species where no ortholog for SIVA1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • 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)
  • fruit fly (Drosophila melanogaster)
  • 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)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (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)
  • worm (Caenorhabditis elegans)

Evolution for SIVA1 Gene

ENSEMBL:
Gene Tree for SIVA1 (if available)
TreeFam:
Gene Tree for SIVA1 (if available)

Paralogs for SIVA1 Gene

No data available for Paralogs for SIVA1 Gene

Variants for SIVA1 Gene

Sequence variations from dbSNP and Humsavar for SIVA1 Gene

SNP ID Clin Chr 14 pos Variation AA Info Type
rs1000321908 -- 104,751,244(+) C/T upstream_transcript_variant
rs1000703057 -- 104,754,259(+) C/T intron_variant
rs1000920333 -- 104,760,126(+) T/G downstream_transcript_variant
rs1001233178 -- 104,754,659(+) T/G intron_variant
rs1001290359 -- 104,755,030(+) T/C intron_variant

Structural Variations from Database of Genomic Variants (DGV) for SIVA1 Gene

Variant ID Type Subtype PubMed ID
dgv3953n54 CNV gain 21841781
esv3635627 CNV gain 21293372
nsv1054574 CNV loss 25217958
nsv456455 CNV loss 19166990
nsv470677 CNV loss 18288195
nsv470678 CNV gain 18288195
nsv517038 CNV loss 19592680
nsv566057 CNV gain+loss 21841781
nsv566058 CNV gain 21841781
nsv566062 CNV gain+loss 21841781
nsv566069 CNV loss 21841781
nsv820230 CNV gain 19587683
nsv827077 CNV gain 20364138
nsv952271 CNV deletion 24416366

Variation tolerance for SIVA1 Gene

Residual Variation Intolerance Score: 57.7% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for SIVA1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
SIVA1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SIVA1 Gene

Disorders for SIVA1 Gene

MalaCards: The human disease database

(1) MalaCards diseases for SIVA1 Gene - From: DISEASES

Disorder Aliases PubMed IDs
scapuloperoneal myopathy
- elite association - COSMIC cancer census association via MalaCards
Search SIVA1 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for SIVA1

genes like me logo Genes that share disorders with SIVA1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for SIVA1 Gene

Publications for SIVA1 Gene

  1. Siva-1 and an alternative splice form lacking the death domain, Siva-2, similarly induce apoptosis in T lymphocytes via a caspase-dependent mitochondrial pathway. (PMID: 15034012) Py B … Benichou S (Journal of immunology (Baltimore, Md. : 1950) 2004) 3 4 22 58
  2. The apoptotic capability of coxsackievirus B3 is influenced by the efficient interaction between the capsid protein VP2 and the proapoptotic host protein Siva. (PMID: 11601913) Henke A … Munder T (Virology 2001) 3 4 22 58
  3. Apoptosis in coxsackievirus B3-caused diseases: interaction between the capsid protein VP2 and the proapoptotic protein siva. (PMID: 10756043) Henke A … Munder T (Journal of virology 2000) 3 4 22 58
  4. CD27, a member of the tumor necrosis factor receptor family, induces apoptosis and binds to Siva, a proapoptotic protein. (PMID: 9177220) Prasad KV … Schlossman SF (Proceedings of the National Academy of Sciences of the United States of America 1997) 2 3 4 58
  5. Pyrin, product of the MEFV locus, interacts with the proapoptotic protein, Siva. (PMID: 18330885) Balci-Peynircioglu B … Gumucio DL (Journal of cellular physiology 2008) 3 22 58

Products for SIVA1 Gene

Sources for SIVA1 Gene

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