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Aliases for SIPA1 Gene

Aliases for SIPA1 Gene

  • Signal-Induced Proliferation-Associated 1 2 3 5
  • GTPase-Activating Protein Spa-1 3 4
  • P130 SPA-1 3 4
  • Sipa-1 3 4
  • SPA1 3 4
  • Signal-Induced Proliferation-Associated Protein 1 3
  • Signal-Induced Proliferation-Associated Gene 1 3

External Ids for SIPA1 Gene

Previous GeneCards Identifiers for SIPA1 Gene

  • GC11U990125
  • GC11P067087
  • GC11P065655
  • GC11P065180
  • GC11P065162
  • GC11P065102
  • GC11P065406
  • GC11P061734
  • GC11P065410
  • GC11P065585

Summaries for SIPA1 Gene

Entrez Gene Summary for SIPA1 Gene

  • The product of this gene is a mitogen induced GTPase activating protein (GAP). It exhibits a specific GAP activity for Ras-related regulatory proteins Rap1 and Rap2, but not for Ran or other small GTPases. This protein may also hamper mitogen-induced cell cycle progression when abnormally or prematurely expressed. It is localized to the perinuclear region. Two alternatively spliced variants encoding the same isoform have been characterized to date. [provided by RefSeq, Jul 2008]

GeneCards Summary for SIPA1 Gene

SIPA1 (Signal-Induced Proliferation-Associated 1) is a Protein Coding gene. Diseases associated with SIPA1 include Juvenile Myelomonocytic Leukemia. Among its related pathways are Rap1 signalling and G-protein signaling_Rap1A regulation pathway. GO annotations related to this gene include GTPase activator activity and protein C-terminus binding. An important paralog of this gene is SIPA1L2.

UniProtKB/Swiss-Prot for SIPA1 Gene

  • GTPase activator for the nuclear Ras-related regulatory proteins Rap1 and Rap2 in vitro, converting it to the putatively inactive GDP-bound state.

Gene Wiki entry for SIPA1 Gene

Additional gene information for SIPA1 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SIPA1 Gene

Genomics for SIPA1 Gene

Regulatory Elements for SIPA1 Gene

Enhancers for SIPA1 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
GH11H065650 2 FANTOM5 Ensembl ENCODE dbSUPER 19.8 +14.6 14615 5.4 HDGF PKNOX1 FOXA2 ARID4B SIN3A ZBTB7B YY1 ZNF766 ZNF143 ZNF207 KAT5 SF1 SART1 MAP3K11 EHBP1L1 EIF1AD SF3B2 PCNX3 SIPA1 RNASEH2C
GH11H066078 1.9 FANTOM5 Ensembl ENCODE dbSUPER 20.4 +443.7 443713 7.5 HDGF PKNOX1 FOXA2 SIN3A YBX1 FEZF1 ZNF121 GATA2 ZNF143 FOS ENSG00000255320 SF3B2 SIPA1 LOC105369352 PACS1 ENSG00000254461 CST6 BANF1 EIF1AD RBM14
GH11H065636 1.6 FANTOM5 ENCODE dbSUPER 23.9 +2.6 2586 8.2 HDGF PKNOX1 ZFP64 ARID4B SIN3A YBX1 ZNF143 ZNF207 PAF1 SP3 SIPA1 SSSCA1 KCNK7 RNASEH2C MAP3K11 LOC105369352 EHBP1L1 ZFPL1 TIGD3 EIF1AD
GH11H065609 1.7 FANTOM5 ENCODE dbSUPER 16.7 -24.1 -24099 8.5 HDGF PKNOX1 FOXA2 ARNT ZFP64 ARID4B SIN3A DMAP1 ZBTB7B YY1 MAP3K11 LOC105369352 EIF1AD MRPL11 SIPA1 RNASEH2C EHBP1L1 EFEMP2 SSSCA1 CTSF
GH11H065414 2.2 FANTOM5 Ensembl ENCODE dbSUPER 11.4 -213.9 -213916 18.8 MLX ZFP64 FEZF1 DMAP1 YBX1 YY1 SLC30A9 ZNF143 SP3 MEF2D SF1 LOC105369352 ZFPL1 KAT5 SART1 MUS81 EIF1AD PCNX3 POLA2 SF3B2
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around SIPA1 on UCSC Golden Path with GeneCards custom track

Promoters for SIPA1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000040869 303 801 HDGF ATF1 ARID4B SIN3A TCF12 ZNF143 ZNF207 ATF7 PAF1 SP3

Genomic Locations for SIPA1 Gene

Genomic Locations for SIPA1 Gene
chr11:65,638,097-65,650,930
(GRCh38/hg38)
Size:
12,834 bases
Orientation:
Plus strand
chr11:65,405,568-65,418,401
(GRCh37/hg19)

Genomic View for SIPA1 Gene

Genes around SIPA1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SIPA1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SIPA1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SIPA1 Gene

Proteins for SIPA1 Gene

  • Protein details for SIPA1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q96FS4-SIPA1_HUMAN
    Recommended name:
    Signal-induced proliferation-associated protein 1
    Protein Accession:
    Q96FS4
    Secondary Accessions:
    • O14518
    • O60484
    • O60618
    • Q2YD83

    Protein attributes for SIPA1 Gene

    Size:
    1042 amino acids
    Molecular mass:
    112149 Da
    Quaternary structure:
    No Data Available

neXtProt entry for SIPA1 Gene

Post-translational modifications for SIPA1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for SIPA1 Gene

No data available for DME Specific Peptides for SIPA1 Gene

Domains & Families for SIPA1 Gene

Gene Families for SIPA1 Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for SIPA1 Gene

Suggested Antigen Peptide Sequences for SIPA1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with SIPA1: view

No data available for UniProtKB/Swiss-Prot for SIPA1 Gene

Function for SIPA1 Gene

Molecular function for SIPA1 Gene

GENATLAS Biochemistry:
signal-induced proliferation-associated 1 mitogen,GTPase-activating protein,130kDa,expressed in lymphoid tissue,localized in the perinuclear membranous region,mouse Spa-1 homolog
UniProtKB/Swiss-Prot Function:
GTPase activator for the nuclear Ras-related regulatory proteins Rap1 and Rap2 in vitro, converting it to the putatively inactive GDP-bound state.
UniProtKB/Swiss-Prot Induction:
Repressed by 12-O-tetradecanoylphorbol-13-acetate (TPA) in promyelocytic HL-60 cells.

Phenotypes From GWAS Catalog for SIPA1 Gene

Gene Ontology (GO) - Molecular Function for SIPA1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005096 GTPase activator activity NAS 9346962
GO:0005515 protein binding IPI 21988832
GO:0008022 protein C-terminus binding IEA --
genes like me logo Genes that share ontologies with SIPA1: view
genes like me logo Genes that share phenotypes with SIPA1: view

Animal Models for SIPA1 Gene

MGI Knock Outs for SIPA1:

Clone Products

  • Addgene plasmids for SIPA1

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for SIPA1 Gene

Localization for SIPA1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SIPA1 Gene

Nucleus. Cytoplasm, perinuclear region. Endomembrane system; Peripheral membrane protein. Note=Mostly localized in the perinuclear membraneous region.

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 SIPA1 gene
Compartment Confidence
nucleus 5
cytosol 5
plasma membrane 2
golgi apparatus 2
extracellular 1
peroxisome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Golgi apparatus (2)
  • Nucleoli (2)
  • Nucleus (2)
  • Plasma membrane (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for SIPA1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IC,IEA 9183624
GO:0005737 cytoplasm IEA --
GO:0005829 cytosol TAS --
GO:0012505 endomembrane system IEA --
GO:0016020 membrane IEA --
genes like me logo Genes that share ontologies with SIPA1: view

Pathways & Interactions for SIPA1 Gene

genes like me logo Genes that share pathways with SIPA1: view

Pathways by source for SIPA1 Gene

1 BioSystems pathway for SIPA1 Gene
3 Reactome pathways for SIPA1 Gene
1 GeneGo (Thomson Reuters) pathway for SIPA1 Gene

Gene Ontology (GO) - Biological Process for SIPA1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007010 cytoskeleton organization NAS 12059963
GO:0007162 negative regulation of cell adhesion NAS 10373454
GO:0007165 signal transduction TAS 9346962
GO:0008283 cell proliferation TAS 9346962
GO:0030308 negative regulation of cell growth NAS 9183624
genes like me logo Genes that share ontologies with SIPA1: view

No data available for SIGNOR curated interactions for SIPA1 Gene

Drugs & Compounds for SIPA1 Gene

No Compound Related Data Available

Transcripts for SIPA1 Gene

Unigene Clusters for SIPA1 Gene

Signal-induced proliferation-associated 1:
Representative Sequences:

Clone Products

  • Addgene plasmids for SIPA1

Alternative Splicing Database (ASD) splice patterns (SP) for SIPA1 Gene

No ASD Table

Relevant External Links for SIPA1 Gene

GeneLoc Exon Structure for
SIPA1
ECgene alternative splicing isoforms for
SIPA1

Expression for SIPA1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for SIPA1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for SIPA1 Gene

This gene is overexpressed in Whole Blood (x13.1) and Spleen (x4.8).

Protein differential expression in normal tissues from HIPED for SIPA1 Gene

This gene is overexpressed in Peripheral blood mononuclear cells (25.4), Lymph node (10.7), and NK cells (6.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for SIPA1 Gene



Protein tissue co-expression partners for SIPA1 Gene

NURSA nuclear receptor signaling pathways regulating expression of SIPA1 Gene:

SIPA1

SOURCE GeneReport for Unigene cluster for SIPA1 Gene:

Hs.530477

mRNA Expression by UniProt/SwissProt for SIPA1 Gene:

Q96FS4-SIPA1_HUMAN
Tissue specificity: Expressed in fetal as well as in adult tissues. Expressed abundantly in the lymphoid tissues such as thymus, spleen and peripheral blood lymphocytes and also shows a significant expression in the spinal cord.

Evidence on tissue expression from TISSUES for SIPA1 Gene

  • Liver(4.2)
  • Blood(4.1)
  • Pancreas(4.1)
  • Lymph node(2.5)
genes like me logo Genes that share expression patterns with SIPA1: view

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for SIPA1 Gene

Orthologs for SIPA1 Gene

This gene was present in the common ancestor of animals.

Orthologs for SIPA1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia SIPA1 33 34
  • 99.58 (n)
dog
(Canis familiaris)
Mammalia SIPA1 33 34
  • 89.02 (n)
cow
(Bos Taurus)
Mammalia SIPA1 33 34
  • 88.91 (n)
mouse
(Mus musculus)
Mammalia Sipa1 33 16 34
  • 84.94 (n)
rat
(Rattus norvegicus)
Mammalia Sipa1 33
  • 84.04 (n)
oppossum
(Monodelphis domestica)
Mammalia SIPA1 34
  • 66 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia SIPA1 34
  • 66 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia SIPA1 34
  • 50 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia sipa1 33
  • 54.4 (n)
zebrafish
(Danio rerio)
Actinopterygii SIPA1 34
  • 38 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta CG18646 35
  • 36 (a)
Species where no ortholog for SIPA1 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)
  • chicken (Gallus gallus)
  • 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 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 SIPA1 Gene

ENSEMBL:
Gene Tree for SIPA1 (if available)
TreeFam:
Gene Tree for SIPA1 (if available)

Paralogs for SIPA1 Gene

(3) SIMAP similar genes for SIPA1 Gene using alignment to 3 proteins:

genes like me logo Genes that share paralogs with SIPA1: view

Variants for SIPA1 Gene

Sequence variations from dbSNP and Humsavar for SIPA1 Gene

SNP ID Clin Chr 11 pos Sequence Context AA Info Type
rs1000581449 -- 65,649,197(+) GGGGG(G/T)GGGGC intron-variant, nc-transcript-variant
rs1000713922 -- 65,647,355(+) GCAGC(C/G/T)CCGCC intron-variant, upstream-variant-2KB
rs1000744800 -- 65,647,589(+) TGCCC(A/G)GCTCC nc-transcript-variant, upstream-variant-2KB, reference, missense
rs1001329028 -- 65,645,725(+) GGCTG(A/G)TGGCA intron-variant
rs1001481748 -- 65,639,403(+) CGCAC(C/T)CGGCC intron-variant, upstream-variant-2KB

Structural Variations from Database of Genomic Variants (DGV) for SIPA1 Gene

Variant ID Type Subtype PubMed ID
nsv951018 CNV deletion 24416366
dgv1969n54 CNV loss 21841781

Variation tolerance for SIPA1 Gene

Residual Variation Intolerance Score: 74.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 6.67; 78.46% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for SIPA1 Gene

Human Gene Mutation Database (HGMD)
SIPA1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
SIPA1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SIPA1 Gene

Disorders for SIPA1 Gene

MalaCards: The human disease database

(1) MalaCards diseases for SIPA1 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
juvenile myelomonocytic leukemia
  • leukemia, juvenile myelomonocytic, somatic
- elite association - COSMIC cancer census association via MalaCards
Search SIPA1 in MalaCards View complete list of genes associated with diseases

Relevant External Links for SIPA1

Genetic Association Database (GAD)
SIPA1
Human Genome Epidemiology (HuGE) Navigator
SIPA1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
SIPA1
genes like me logo Genes that share disorders with SIPA1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for SIPA1 Gene

Publications for SIPA1 Gene

  1. Polymorphisms of the SIPA1 gene and sporadic breast cancer susceptibility. (PMID: 19765277) Hsieh SM … Griffiths LR (BMC cancer 2009) 3 22 45 60
  2. Genomic organization and cloning of the human homologue of murine Sipa-1. (PMID: 9651531) Ebrahimi S … Sawicki MP (Gene 1998) 3 4 22 60
  3. Human SPA-1 gene product selectively expressed in lymphoid tissues is a specific GTPase-activating protein for Rap1 and Rap2. Segregate expression profiles from a rap1GAP gene product. (PMID: 9346962) Kurachi H … Minato N (The Journal of biological chemistry 1997) 3 4 22 60
  4. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PMID: 20628086) Bailey SD … DREAM investigators (Diabetes care 2010) 3 45 60
  5. Polymorphisms in MMP9 and SIPA1 are associated with increased risk of nodal metastases in early-stage cervical cancer. (PMID: 19906411) Brooks R … Rader JS (Gynecologic oncology 2010) 3 45 60

Products for SIPA1 Gene

  • Addgene plasmids for SIPA1

Sources for SIPA1 Gene

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