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Aliases for SIPA1L3 Gene

Aliases for SIPA1L3 Gene

  • Signal Induced Proliferation Associated 1 Like 3 2 3
  • Signal-Induced Proliferation-Associated 1 Like 3 2 3 5
  • SIPA1-Like Protein 3 3 4
  • SPA-1-Like Protein 3 3 4
  • SPAL3 3 4
  • KIAA0545 4
  • CTRCT45 3
  • SPAR3 3

External Ids for SIPA1L3 Gene

Previous GeneCards Identifiers for SIPA1L3 Gene

  • GC19P043090
  • GC19P043264
  • GC19P038397
  • GC19P034846

Summaries for SIPA1L3 Gene

Entrez Gene Summary for SIPA1L3 Gene

  • This gene belongs to the signal induced proliferation associated 1 family of genes, which encode GTPase-activating proteins specific for the GTP-binding protein Rap1. Rap1 has been implicated in regulation of cell adhesion, cell polarity, and organization of the cytoskeleton. Like other members of the family, the protein encoded by this gene contains RapGAP and PDZ domains. In addition, this protein contains a C-terminal leucine zipper domain. This gene is proposed to function in epithelial cell morphogenesis and establishment or maintenance of polarity. Consistently, expression of the protein in cell culture showed localization to cell-cell borders in apical regions, and downregulation of the gene in 3D Caco2 cell culture resulted in abnormal cell polarity and morphogenesis. Allelic variants of this gene have been associated with congenital cataracts in humans. [provided by RefSeq, Feb 2016]

GeneCards Summary for SIPA1L3 Gene

SIPA1L3 (Signal Induced Proliferation Associated 1 Like 3) is a Protein Coding gene. Among its related pathways are Ras signaling pathway. GO annotations related to this gene include GTPase activator activity. An important paralog of this gene is RAP1GAP.

UniProtKB/Swiss-Prot for SIPA1L3 Gene

  • Plays a critical role in epithelial cell morphogenesis, polarity, adhesion and cytoskeletal organization in the lens (PubMed:26231217).

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SIPA1L3 Gene

Genomics for SIPA1L3 Gene

Regulatory Elements for SIPA1L3 Gene

Promoters for SIPA1L3 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around SIPA1L3 on UCSC Golden Path with GeneCards custom track

Genomic Location for SIPA1L3 Gene

Chromosome:
19
Start:
37,907,221 bp from pter
End:
38,208,372 bp from pter
Size:
301,152 bases
Orientation:
Plus strand

Genomic View for SIPA1L3 Gene

Genes around SIPA1L3 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SIPA1L3 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SIPA1L3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SIPA1L3 Gene

Proteins for SIPA1L3 Gene

  • Protein details for SIPA1L3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O60292-SI1L3_HUMAN
    Recommended name:
    Signal-induced proliferation-associated 1-like protein 3
    Protein Accession:
    O60292
    Secondary Accessions:
    • Q2TV87

    Protein attributes for SIPA1L3 Gene

    Size:
    1781 amino acids
    Molecular mass:
    194610 Da
    Quaternary structure:
    No Data Available

neXtProt entry for SIPA1L3 Gene

Proteomics data for SIPA1L3 Gene at MOPED

Post-translational modifications for SIPA1L3 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for SIPA1L3 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for SIPA1L3 Gene

Domains & Families for SIPA1L3 Gene

Gene Families for SIPA1L3 Gene

Protein Domains for SIPA1L3 Gene

InterPro:
Blocks:
ProtoNet:

Suggested Antigen Peptide Sequences for SIPA1L3 Gene

Graphical View of Domain Structure for InterPro Entry

O60292

UniProtKB/Swiss-Prot:

SI1L3_HUMAN :
  • Contains 1 PDZ (DHR) domain.
Domain:
  • Contains 1 PDZ (DHR) domain.
  • Contains 1 Rap-GAP domain.
genes like me logo Genes that share domains with SIPA1L3: view

Function for SIPA1L3 Gene

Molecular function for SIPA1L3 Gene

UniProtKB/Swiss-Prot Function:
Plays a critical role in epithelial cell morphogenesis, polarity, adhesion and cytoskeletal organization in the lens (PubMed:26231217).
genes like me logo Genes that share phenotypes with SIPA1L3: view

Animal Model Products

  • Taconic Biosciences Mouse Models for SIPA1L3

CRISPR Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for SIPA1L3 Gene

Localization for SIPA1L3 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SIPA1L3 Gene

Apical cell membrane. Note=Detected in tricellular junctions. Colocalizes with apical F-actin. {ECO:0000269 PubMed:26231217}.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for SIPA1L3 Gene COMPARTMENTS Subcellular localization image for SIPA1L3 gene
Compartment Confidence
cytoskeleton 5
extracellular 5
cytosol 3
plasma membrane 3
nucleus 2

No data available for Gene Ontology (GO) - Cellular Components for SIPA1L3 Gene

Pathways & Interactions for SIPA1L3 Gene

SuperPathways for SIPA1L3 Gene

Superpath Contained pathways
1 Ras signaling pathway
genes like me logo Genes that share pathways with SIPA1L3: view

Pathways by source for SIPA1L3 Gene

1 KEGG pathway for SIPA1L3 Gene

Interacting Proteins for SIPA1L3 Gene

Gene Ontology (GO) - Biological Process for SIPA1L3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007010 cytoskeleton organization IEA,ISS --
GO:0043547 positive regulation of GTPase activity IEA --
GO:0051056 regulation of small GTPase mediated signal transduction IEA --
genes like me logo Genes that share ontologies with SIPA1L3: view

No data available for SIGNOR curated interactions for SIPA1L3 Gene

Drugs & Compounds for SIPA1L3 Gene

No Compound Related Data Available

Transcripts for SIPA1L3 Gene

Unigene Clusters for SIPA1L3 Gene

Signal-induced proliferation-associated 1 like 3:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for SIPA1L3 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7a · 7b ^ 8a · 8b ^ 9a · 9b ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18a · 18b ^ 19 ^ 20 ^ 21 ^ 22
SP1: - - -
SP2:
SP3:
SP4:

Relevant External Links for SIPA1L3 Gene

GeneLoc Exon Structure for
SIPA1L3
ECgene alternative splicing isoforms for
SIPA1L3

Expression for SIPA1L3 Gene

mRNA expression in normal human tissues for SIPA1L3 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for SIPA1L3 Gene

This gene is overexpressed in Liver, secretome (30.2), Islet of Langerhans (8.2), Retina (8.1), Pancreas (6.7), and Monocytes (6.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for SIPA1L3 Gene



SOURCE GeneReport for Unigene cluster for SIPA1L3 Gene Hs.655502

genes like me logo Genes that share expression patterns with SIPA1L3: view

Primer Products

In Situ Assay Products

No data available for mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Protein tissue co-expression partners for SIPA1L3 Gene

Orthologs for SIPA1L3 Gene

This gene was present in the common ancestor of chordates.

Orthologs for SIPA1L3 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia SIPA1L3 35
  • 89.01 (n)
  • 92.16 (a)
SIPA1L3 36
  • 79 (a)
OneToOne
dog
(Canis familiaris)
Mammalia SIPA1L3 35
  • 89.58 (n)
  • 92.84 (a)
SIPA1L3 36
  • 92 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Sipa1l3 35
  • 86.41 (n)
  • 91.54 (a)
Sipa1l3 16
Sipa1l3 36
  • 91 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia SIPA1L3 35
  • 99.12 (n)
  • 99.32 (a)
SIPA1L3 36
  • 99 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia SIPA1L3 36
  • 80 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia SIPA1L3 36
  • 67 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia SIPA1L3 36
  • 71 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia sipa1l3 35
  • 64.69 (n)
  • 68.12 (a)
Str.10258 35
zebrafish
(Danio rerio)
Actinopterygii si:dkey-149j18.1 35
  • 61.41 (n)
  • 62 (a)
CABZ01030262.1 36
  • 34 (a)
OneToOne
Species with no ortholog for SIPA1L3:
  • 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)
  • 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)
  • rat (Rattus norvegicus)
  • 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 SIPA1L3 Gene

ENSEMBL:
Gene Tree for SIPA1L3 (if available)
TreeFam:
Gene Tree for SIPA1L3 (if available)

Paralogs for SIPA1L3 Gene

genes like me logo Genes that share paralogs with SIPA1L3: view

Variants for SIPA1L3 Gene

Sequence variations from dbSNP and Humsavar for SIPA1L3 Gene

SNP ID Clin Chr 19 pos Sequence Context AA Info Type
rs2304133 - 38,164,809(+) TTGCC(A/G/T)GCCAA reference, missense
rs3745945 - 38,182,658(+) AGCAG(C/G)CTGTA reference, missense
VAR_075045 -
rs353398 -- 37,956,184(-) TAAGC(A/G)TTGGT intron-variant
rs353399 -- 37,956,035(-) agcca(C/T)tgtac intron-variant

Structural Variations from Database of Genomic Variants (DGV) for SIPA1L3 Gene

Variant ID Type Subtype PubMed ID
nsv833820 CNV Loss 17160897
esv2610413 CNV Deletion 19546169
nsv911656 CNV Gain 21882294
esv2658332 CNV Deletion 23128226
esv1080341 CNV Insertion 17803354
nsv138463 CNV Loss 16902084
nsv833821 CNV Loss 17160897
nsv911657 CNV Loss 21882294
esv2670217 CNV Deletion 23128226
esv2718531 CNV Deletion 23290073

Variation tolerance for SIPA1L3 Gene

Residual Variation Intolerance Score: 79.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 7.67; 82.92% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for SIPA1L3 Gene

HapMap Linkage Disequilibrium report
SIPA1L3
Human Gene Mutation Database (HGMD)
SIPA1L3

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SIPA1L3 Gene

Disorders for SIPA1L3 Gene

UniProtKB/Swiss-Prot

SI1L3_HUMAN
  • Note=A chromosomal translocation involving SIPA1L3 is found in a patient with bilateral severe ocular abnormalities including congenital cataracts, corneal clouding, iridocorneal and lenticular adhesions and microphthalmia. Chromosomal translocation t(2;19)(q37.3;q13.1). In addition to translocation, missense variant has been found in patient with bilateral congenital cataracts (PubMed:26231217). {ECO:0000269 PubMed:26231217}.

Relevant External Links for SIPA1L3

Genetic Association Database (GAD)
SIPA1L3
Human Genome Epidemiology (HuGE) Navigator
SIPA1L3
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
SIPA1L3

No disorders were found for SIPA1L3 Gene.

No data available for MalaCards and Genatlas for SIPA1L3 Gene

Publications for SIPA1L3 Gene

  1. Mutations in SIPA1L3 cause eye defects through disruption of cell polarity and cytoskeleton organization. (PMID: 26231217) Greenlees R. … Jamieson R.V. (Hum. Mol. Genet. 2015) 3 4 67
  2. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 3
  3. Proteomic investigation of the interactome of FMNL1 in hematopoietic cells unveils a role in calcium-dependent membrane plasticity. (PMID: 23182705) Han Y. … Krackhardt A.M. (J Proteomics 2013) 3
  4. 14-3-3 proteins sequester a pool of soluble TRIM32 ubiquitin ligase to repress autoubiquitylation and cytoplasmic body formation. (PMID: 23444366) Ichimura T. … Hachiya N. (J. Cell. Sci. 2013) 3
  5. The protein interaction landscape of the human CMGC kinase group. (PMID: 23602568) Varjosalo M. … Gstaiger M. (Cell Rep 2013) 3

Products for SIPA1L3 Gene

Sources for SIPA1L3 Gene

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