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 spl... See more...

Aliases for SIPA1 Gene

Aliases for SIPA1 Gene

  • Signal-Induced Proliferation-Associated 1 2 3 5
  • SPA1 2 3 4
  • Signal-Induced Proliferation-Associated Protein 1 3 4
  • GTPase-Activating Protein Spa-1 3 4
  • P130 SPA-1 3 4
  • Sipa-1 3 4
  • Signal-Induced Proliferation-Associated Gene 1 3
  • SIPA1 5

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 and Leukemia, Chronic Myeloid. Among its related pathways are Blood-Brain Barrier and Immune Cell Transmigration: VCAM-1/CD106 Signaling and Ras signaling pathway. Gene Ontology (GO) annotations related to this gene include GTPase activator activity and protein C-terminus binding. An important paralog of this gene is SIPA1L3.

UniProtKB/Swiss-Prot Summary for SIPA1 Gene

  • GTPase activator for the nuclear Ras-related regulatory proteins Rap1 and Rap2 in vitro, converting them to the putatively inactive GDP-bound state (PubMed:9346962). Affects cell cycle progression (By similarity).

Gene Wiki entry for SIPA1 Gene

Additional gene information for SIPA1 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for SIPA1 Gene

Genomics for SIPA1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for SIPA1 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around SIPA1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for SIPA1

Top Transcription factor binding sites by QIAGEN in the SIPA1 gene promoter:
  • ATF-2
  • c-Jun
  • NF-1
  • NF-1/L

Genomic Locations for SIPA1 Gene

Genomic Locations for SIPA1 Gene
chr11:65,638,101-65,650,930
(GRCh38/hg38)
Size:
12,830 bases
Orientation:
Plus strand
chr11:65,405,568-65,418,401
(GRCh37/hg19)
Size:
12,834 bases
Orientation:
Plus strand

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:
    • Interacts with RRP1B; the interaction leads to inhibition of SIPA1 GTPase activity.

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

Protein Domains for SIPA1 Gene

InterPro:
Blocks:
  • PDZ/DHR/GLGF domain
  • Rap/ran-GAP
ProtoNet:

Suggested Antigen Peptide Sequences for SIPA1 Gene

GenScript: Design optimal peptide antigens:
  • p130 SPA-1 (SIPA1_HUMAN)
genes like me logo Genes that share domains with SIPA1: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for SIPA1 Gene

Function for SIPA1 Gene

Molecular function for SIPA1 Gene

UniProtKB/Swiss-Prot Function:
GTPase activator for the nuclear Ras-related regulatory proteins Rap1 and Rap2 in vitro, converting them to the putatively inactive GDP-bound state (PubMed:9346962). Affects cell cycle progression (By similarity).
UniProtKB/Swiss-Prot Induction:
Repressed by 12-O-tetradecanoylphorbol-13-acetate (TPA) in promyelocytic HL-60 cells.
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

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:
  • Sipa1 Sipa1<tm1Nm>
  • Sipa1 Sipa1<tm1b(EUCOMM)Hmgu>

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products 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. {ECO:0000269 PubMed:9346962}.

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
cytosol 5
nucleus 4
plasma membrane 3
golgi apparatus 2
extracellular 1
cytoskeleton 1
mitochondrion 1
endosome 1
peroxisome 0

Subcellular locations from the

Human Protein Atlas (HPA)
  • Golgi apparatus (2)
  • Nucleoli (2)
  • Nucleoplasm (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 IEA --
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
  • G-protein signaling_Rap1A regulation pathway

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:0030308 negative regulation of cell growth NAS 9183624
GO:0035556 intracellular signal transduction NAS 9346962
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

mRNA/cDNA for SIPA1 Gene

2 REFSEQ mRNAs :
10 NCBI additional mRNA sequence :
10 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 SIPA1

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

Expression for SIPA1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and 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, MaxQB, and MOPED for SIPA1 Gene



Protein tissue co-expression partners for SIPA1 Gene

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

  • Blood(4.3)
  • Liver(4.3)
  • Pancreas(4.1)
  • Lymph node(2.5)
  • Intestine(2.2)
  • Nervous system(2.2)
  • Bone marrow(2.1)
  • Spleen(2.1)
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 30 31
  • 99.58 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia SIPA1 30 31
  • 89.02 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia SIPA1 30 31
  • 88.91 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Sipa1 30 17 31
  • 84.94 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Sipa1 30
  • 84.04 (n)
Platypus
(Ornithorhynchus anatinus)
Mammalia SIPA1 31
  • 66 (a)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia SIPA1 31
  • 66 (a)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia SIPA1 31
  • 50 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia sipa1 30
  • 54.4 (n)
Zebrafish
(Danio rerio)
Actinopterygii SIPA1 31
  • 38 (a)
OneToOne
Fruit Fly
(Drosophila melanogaster)
Insecta CG18646 32
  • 36 (a)
Species where no ortholog for SIPA1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 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)
  • Worm (Caenorhabditis elegans)

Evolution for SIPA1 Gene

ENSEMBL:
Gene Tree for SIPA1 (if available)
TreeFam:
Gene Tree for SIPA1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for SIPA1: view image

Paralogs for SIPA1 Gene

Paralogs for SIPA1 Gene

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

  • SIPA1_HUMAN
  • E9PIB3_HUMAN
  • F6RY50_HUMAN
genes like me logo Genes that share paralogs with SIPA1: view

Variants for SIPA1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for SIPA1 Gene

SNP ID Clinical significance and condition Chr 11 pos Variation AA Info Type
691381 Uncertain Significance: Pyloric stenosis; Esophageal atresia 65,641,288(+) A/G MISSENSE_VARIANT
717624 Benign: not provided 65,641,237(+) G/T MISSENSE_VARIANT
747317 Benign: not provided 65,649,380(+) C/T MISSENSE_VARIANT
784193 Benign: not provided 65,645,074(+) C/T SYNONYMOUS_VARIANT
785814 Benign: not provided 65,649,965(+) G/T MISSENSE_VARIANT

Additional dbSNP identifiers (rs#s) for SIPA1 Gene

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

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

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)

Additional Variant Information for SIPA1 Gene

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

SNP Genotyping and Copy Number Assay Products

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

Disorders for SIPA1 Gene

MalaCards: The human disease database

(2) MalaCards diseases for SIPA1 Gene - From: DISEASES, Novoseek, and GeneCards

- elite association - COSMIC cancer census association via MalaCards
Search SIPA1 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for SIPA1

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 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 23 41
  2. Genomic organization and cloning of the human homologue of murine Sipa-1. (PMID: 9651531) Ebrahimi S … Sawicki MP (Gene 1998) 3 4 23
  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 23
  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 41
  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 41

Products for SIPA1 Gene

Sources for SIPA1 Gene