Aliases for SIPA1L1 Gene

Aliases for SIPA1L1 Gene

  • Signal Induced Proliferation Associated 1 Like 1 2 3 5
  • High-Risk Human Papilloma Viruses E6 Oncoproteins Targeted Protein 1 3 4
  • Signal-Induced Proliferation-Associated 1-Like Protein 1 3 4
  • SIPA1-Like Protein 1 3 4
  • E6TP1 3 4
  • Signal-Induced Proliferation-Associated 1 Like 1 2
  • Spine-Associated RapGAP 1 3
  • Spine‐Associated RapGAP 1 2
  • E6-Targeted Protein 1 4
  • KIAA0440 4
  • SPAR1 3

External Ids for SIPA1L1 Gene

Previous GeneCards Identifiers for SIPA1L1 Gene

  • GC14P069987
  • GC14P069988
  • GC14P071065
  • GC14P071996
  • GC14P052162
  • GC14P071787

Summaries for SIPA1L1 Gene

GeneCards Summary for SIPA1L1 Gene

SIPA1L1 (Signal Induced Proliferation Associated 1 Like 1) is a Protein Coding gene. Diseases associated with SIPA1L1 include Colorectal Cancer, Hereditary Nonpolyposis, Type 7. Among its related pathways are Ras signaling pathway and Protein-protein interactions at synapses. Gene Ontology (GO) annotations related to this gene include GTPase activator activity and ephrin receptor binding. An important paralog of this gene is SIPA1L2.

UniProtKB/Swiss-Prot Summary for SIPA1L1 Gene

  • Stimulates the GTPase activity of RAP2A. Promotes reorganization of the actin cytoskeleton and recruits DLG4 to F-actin. Contributes to the regulation of dendritic spine morphogenesis (By similarity).

Gene Wiki entry for SIPA1L1 Gene

Additional gene information for SIPA1L1 Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for SIPA1L1 Gene

Genomics for SIPA1L1 Gene

GeneHancer (GH) Regulatory Elements for SIPA1L1 Gene

Promoters and enhancers for SIPA1L1 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 SIPA1L1 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for SIPA1L1

Top Transcription factor binding sites by QIAGEN in the SIPA1L1 gene promoter:
  • aMEF-2
  • CUTL1
  • En-1
  • FOXO1
  • FOXO1a
  • IRF-7A
  • MEF-2
  • MEF-2A
  • RSRFC4
  • S8

Genomic Locations for SIPA1L1 Gene

Genomic Locations for SIPA1L1 Gene
chr14:71,320,449-71,741,229
(GRCh38/hg38)
Size:
420,781 bases
Orientation:
Plus strand
chr14:71,787,166-72,207,946
(GRCh37/hg19)
Size:
420,781 bases
Orientation:
Plus strand

Genomic View for SIPA1L1 Gene

Genes around SIPA1L1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SIPA1L1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SIPA1L1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SIPA1L1 Gene

Proteins for SIPA1L1 Gene

  • Protein details for SIPA1L1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O43166-SI1L1_HUMAN
    Recommended name:
    Signal-induced proliferation-associated 1-like protein 1
    Protein Accession:
    O43166
    Secondary Accessions:
    • J3KP19
    • O95321
    • Q9UDU4
    • Q9UNU4

    Protein attributes for SIPA1L1 Gene

    Size:
    1804 amino acids
    Molecular mass:
    200029 Da
    Quaternary structure:
    • Interacts with DLG4, PDLIM5, PDLIM7 and LZTS3. Interacts with the actin cytoskeleton (By similarity). Interacts (via PDZ domain) with EPHA4 (via PDZ motif); controls neuronal morphology through regulation of the RAP1 (RAP1A or RAP1B) and RAP2 (RAP2A, RAP2B or RAP2C) GTPases. Interacts with HPV E6.
    SequenceCaution:
    • Sequence=BAA23712.2; Type=Erroneous initiation; Evidence={ECO:0000305};

    Alternative splice isoforms for SIPA1L1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for SIPA1L1 Gene

Post-translational modifications for SIPA1L1 Gene

  • Ubiquitinated and degraded by the SCF(BTRC) following phosphorylation by PLK2.
  • Phosphorylated at Ser-1349 by CDK5, creating a docking site for the POLO box domains of PLK2. Subsequently, PLK2 binds and phosphorylates SIPA1L1, leading to ubiquitination and degradation by the proteasome (By similarity).
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt
  • Glycosylation from GlyConnect
    • SI1L1_HUMAN (2075)

No data available for DME Specific Peptides for SIPA1L1 Gene

Domains & Families for SIPA1L1 Gene

Gene Families for SIPA1L1 Gene

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

Protein Domains for SIPA1L1 Gene

Blocks:
  • Rap/ran-GAP
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for SIPA1L1 Gene

GenScript: Design optimal peptide antigens:
  • SIPA1L1 protein (A6H8W6_HUMAN)
  • High-risk human papilloma viruses E6 oncoproteins targeted protein 1 (SI1L1_HUMAN)
genes like me logo Genes that share domains with SIPA1L1: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for SIPA1L1 Gene

Function for SIPA1L1 Gene

Molecular function for SIPA1L1 Gene

UniProtKB/Swiss-Prot Function:
Stimulates the GTPase activity of RAP2A. Promotes reorganization of the actin cytoskeleton and recruits DLG4 to F-actin. Contributes to the regulation of dendritic spine morphogenesis (By similarity).

Phenotypes From GWAS Catalog for SIPA1L1 Gene

Gene Ontology (GO) - Molecular Function for SIPA1L1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003674 molecular_function ND --
GO:0005096 GTPase activator activity IEA --
GO:0005515 protein binding IEA --
GO:0046875 ephrin receptor binding IEA --
genes like me logo Genes that share ontologies with SIPA1L1: view
genes like me logo Genes that share phenotypes with SIPA1L1: view

Animal Models for SIPA1L1 Gene

MGI Knock Outs for SIPA1L1:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SIPA1L1

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for SIPA1L1 Gene

Localization for SIPA1L1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SIPA1L1 Gene

Cytoplasm, cytoskeleton. Cell junction, synapse, postsynaptic density. Cell junction, synapse, synaptosome. Note=Associated with the actin cytoskeleton. Detected at synapses and dendritic spines of cultured hippocampal neurons (By similarity). {ECO:0000250}.

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 SIPA1L1 gene
Compartment Confidence
plasma membrane 4
cytoskeleton 4
nucleus 3
cytosol 3
extracellular 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Actin filaments (2)
  • Plasma membrane (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for SIPA1L1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005575 cellular_component ND --
GO:0005737 cytoplasm IEA --
GO:0005856 cytoskeleton IEA --
GO:0005886 plasma membrane IEA --
GO:0014069 postsynaptic density ISS --
genes like me logo Genes that share ontologies with SIPA1L1: view

Pathways & Interactions for SIPA1L1 Gene

genes like me logo Genes that share pathways with SIPA1L1: view

Pathways by source for SIPA1L1 Gene

Gene Ontology (GO) - Biological Process for SIPA1L1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008150 biological_process ND --
GO:0031532 actin cytoskeleton reorganization ISS,IEA --
GO:0043087 regulation of GTPase activity ISS,IEA --
GO:0043547 positive regulation of GTPase activity IEA --
GO:0048013 ephrin receptor signaling pathway ISS --
genes like me logo Genes that share ontologies with SIPA1L1: view

No data available for SIGNOR curated interactions for SIPA1L1 Gene

Drugs & Compounds for SIPA1L1 Gene

No Compound Related Data Available

Transcripts for SIPA1L1 Gene

mRNA/cDNA for SIPA1L1 Gene

9 REFSEQ mRNAs :
16 NCBI additional mRNA sequence :
18 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 SIPA1L1

Alternative Splicing Database (ASD) splice patterns (SP) for SIPA1L1 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4a · 4b ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12a · 12b ^ 13 ^ 14 ^ 15a · 15b · 15c ^ 16a · 16b ^ 17a · 17b ^ 18 ^ 19 ^ 20a ·
SP1:
SP2: -
SP3:
SP4:
SP5: - -
SP6:
SP7:
SP8:
SP9:
SP10: - -
SP11:

ExUns: 20b ^ 21 ^ 22
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:
SP11:

Relevant External Links for SIPA1L1 Gene

GeneLoc Exon Structure for
SIPA1L1

Expression for SIPA1L1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for SIPA1L1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for SIPA1L1 Gene

This gene is overexpressed in Kidney (21.5), Bone marrow mesenchymal stem cell (9.8), Peripheral blood mononuclear cells (6.6), and Spleen (6.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for SIPA1L1 Gene



Protein tissue co-expression partners for SIPA1L1 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for SIPA1L1

SOURCE GeneReport for Unigene cluster for SIPA1L1 Gene:

Hs.654657

mRNA Expression by UniProt/SwissProt for SIPA1L1 Gene:

O43166-SI1L1_HUMAN
Tissue specificity: Widely expressed.

Evidence on tissue expression from TISSUES for SIPA1L1 Gene

  • Nervous system(4.9)
  • Liver(4.2)
genes like me logo Genes that share expression patterns with SIPA1L1: view

No data available for mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for SIPA1L1 Gene

Orthologs for SIPA1L1 Gene

This gene was present in the common ancestor of chordates.

Orthologs for SIPA1L1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia SIPA1L1 31 30
  • 99.58 (n)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia SIPA1L1 31
  • 94 (a)
OneToOne
cow
(Bos Taurus)
Mammalia SIPA1L1 31 30
  • 90.3 (n)
OneToOne
dog
(Canis familiaris)
Mammalia SIPA1L1 31 30
  • 90.26 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Sipa1l1 17 31 30
  • 88.57 (n)
rat
(Rattus norvegicus)
Mammalia Sipa1l1 30
  • 88.54 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia SIPA1L1 31
  • 77 (a)
OneToOne
chicken
(Gallus gallus)
Aves SIPA1L1 31 30
  • 81.2 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia SIPA1L1 31
  • 87 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia sipa1l1 30
  • 73.18 (n)
zebrafish
(Danio rerio)
Actinopterygii sipa1l1 31 30
  • 63.06 (n)
OneToOne
-- 30
sea squirt
(Ciona savignyi)
Ascidiacea Cin.8585 30
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.8585 30
Species where no ortholog for SIPA1L1 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)
  • 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 SIPA1L1 Gene

ENSEMBL:
Gene Tree for SIPA1L1 (if available)
TreeFam:
Gene Tree for SIPA1L1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for SIPA1L1: view image

Paralogs for SIPA1L1 Gene

Paralogs for SIPA1L1 Gene

(5) SIMAP similar genes for SIPA1L1 Gene using alignment to 6 proteins:

  • SI1L1_HUMAN
  • A6H8W6_HUMAN
  • F5GYF8_HUMAN
  • G3V4Z3_HUMAN
  • H0YJY2_HUMAN
  • J3KP19_HUMAN
genes like me logo Genes that share paralogs with SIPA1L1: view

Variants for SIPA1L1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for SIPA1L1 Gene

SNP ID Clinical significance and condition Chr 14 pos Variation AA Info Type
715915 Likely Benign: not provided 71,624,107(+) G/A SYNONYMOUS_VARIANT
716387 Benign: not provided 71,624,092(+) G/A SYNONYMOUS_VARIANT
719732 Benign: not provided 71,661,414(+) C/T SYNONYMOUS_VARIANT
721664 Benign: not provided 71,588,361(+) C/G SYNONYMOUS_VARIANT,INTRON_VARIANT
746935 Likely Benign: not provided 71,735,365(+) T/C SYNONYMOUS_VARIANT

Additional dbSNP identifiers (rs#s) for SIPA1L1 Gene

Structural Variations from Database of Genomic Variants (DGV) for SIPA1L1 Gene

Variant ID Type Subtype PubMed ID
esv32876 CNV gain 17666407
esv3337405 CNV insertion 20981092
esv3551741 CNV deletion 23714750
esv3634880 CNV loss 21293372
nsv1160197 CNV duplication 26073780
nsv84708 CNV deletion 16902084
nsv85474 CNV deletion 16902084

Variation tolerance for SIPA1L1 Gene

Residual Variation Intolerance Score: 0.771% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.28; 52.96% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for SIPA1L1 Gene

Human Gene Mutation Database (HGMD)
SIPA1L1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
SIPA1L1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SIPA1L1 Gene

Disorders for SIPA1L1 Gene

MalaCards: The human disease database

(1) MalaCards diseases for SIPA1L1 Gene - From: DISEASES

Disorder Aliases PubMed IDs
colorectal cancer, hereditary nonpolyposis, type 7
  • hnpcc7
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for SIPA1L1

genes like me logo Genes that share disorders with SIPA1L1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for SIPA1L1 Gene

Publications for SIPA1L1 Gene

  1. The E6 oncoproteins of high-risk papillomaviruses bind to a novel putative GAP protein, E6TP1, and target it for degradation. (PMID: 9858596) Gao Q … Band V (Molecular and cellular biology 1999) 2 3 4 23 54
  2. Common variants in 22 loci are associated with QRS duration and cardiac ventricular conduction. (PMID: 21076409) Sotoodehnia N … Arking DE (Nature genetics 2010) 3 41 54
  3. RapGAPs in brain: multipurpose players in neuronal Rap signalling. (PMID: 20576033) Spilker C … Kreutz MR (The European journal of neuroscience 2010) 2 3 54
  4. Analysis of the roles of E6 binding to E6TP1 and nuclear localization in the human papillomavirus type 31 life cycle. (PMID: 16999984) Lee C … Laimins LA (Virology 2007) 3 23 54
  5. Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PMID: 17081983) Olsen JV … Mann M (Cell 2006) 3 4 54

Products for SIPA1L1 Gene

Sources for SIPA1L1 Gene