Aliases for CASKIN1 Gene

Aliases for CASKIN1 Gene

  • CASK Interacting Protein 1 2 3 5
  • Caskin-1 3 4
  • KIAA1306 2 4
  • ANKS5A 2 3
  • CASK-Interacting Protein 1 4
  • CASKIN1 5

External Ids for CASKIN1 Gene

Previous GeneCards Identifiers for CASKIN1 Gene

  • GC16M002243
  • GC16M002167
  • GC16M002227

Summaries for CASKIN1 Gene

GeneCards Summary for CASKIN1 Gene

CASKIN1 (CASK Interacting Protein 1) is a Protein Coding gene. An important paralog of this gene is CASKIN2.

UniProtKB/Swiss-Prot Summary for CASKIN1 Gene

  • May link the scaffolding protein CASK to downstream intracellular effectors.

Additional gene information for CASKIN1 Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for CASKIN1 Gene

Genomics for CASKIN1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for CASKIN1 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 CASKIN1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for CASKIN1

Top Transcription factor binding sites by QIAGEN in the CASKIN1 gene promoter:
  • GATA-2
  • GR
  • GR-alpha
  • IRF-7A
  • NF-1/L
  • NF-kappaB
  • NF-kappaB1
  • p53
  • Pax-5

Genomic Locations for CASKIN1 Gene

Genomic Locations for CASKIN1 Gene
19,426 bases
Minus strand
19,343 bases
Minus strand

Genomic View for CASKIN1 Gene

Genes around CASKIN1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CASKIN1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CASKIN1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CASKIN1 Gene

Proteins for CASKIN1 Gene

  • Protein details for CASKIN1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Protein Accession:
    Secondary Accessions:
    • Q9P2P0

    Protein attributes for CASKIN1 Gene

    1431 amino acids
    Molecular mass:
    149814 Da
    Quaternary structure:
    • Binds the CaM kinase domain of CASK. Forms a ternary complex with CASK and LIN7A, LIN7B or LIN7C. Competes with APBA1 that forms a similar complex with CASK and LIN7 proteins. The tripartite complex CASKIN1/CASK/LIN7(A/B/C) binds the cytoplasmic tail of NRXN1 (By similarity). Polymerizes, via the tandem SAM domains, to form long, 8 nM wide fibers, upon which other proteins can assemble.

    Three dimensional structures from OCA and Proteopedia for CASKIN1 Gene

neXtProt entry for CASKIN1 Gene

Post-translational modifications for CASKIN1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for CASKIN1 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for CASKIN1 Gene

Domains & Families for CASKIN1 Gene

Gene Families for CASKIN1 Gene

Protein Domains for CASKIN1 Gene

  • Ankyrin repeat signature
  • Sterile alpha motif SAM
  • SH3 domain signature
  • Variant SH3

Suggested Antigen Peptide Sequences for CASKIN1 Gene

GenScript: Design optimal peptide antigens:
  • CASK-interacting protein 1 (CSKI1_HUMAN)
  • CASK interacting protein 1, isoform CRA_a (D3DU87_HUMAN)
  • CASKIN1 protein (Q3ZCT2_HUMAN)
genes like me logo Genes that share domains with CASKIN1: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for CASKIN1 Gene

Function for CASKIN1 Gene

Molecular function for CASKIN1 Gene

UniProtKB/Swiss-Prot Function:
May link the scaffolding protein CASK to downstream intracellular effectors.

Phenotypes From GWAS Catalog for CASKIN1 Gene

Gene Ontology (GO) - Molecular Function for CASKIN1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 21763699
GO:0042802 identical protein binding IPI 21763699
genes like me logo Genes that share ontologies with CASKIN1: view
genes like me logo Genes that share phenotypes with CASKIN1: view

Animal Models for CASKIN1 Gene

MGI Knock Outs for CASKIN1:

Animal Model Products

CRISPR Products

miRNA for CASKIN1 Gene

miRTarBase miRNAs that target CASKIN1

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CASKIN1

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for CASKIN1 Gene

Localization for CASKIN1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for CASKIN1 Gene


Subcellular locations from

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 CASKIN1 gene
Compartment Confidence
nucleus 3
cytosol 3
plasma membrane 1
cytoskeleton 1
mitochondrion 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (2)
  • Nucleoplasm (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for CASKIN1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IBA,ISS 12040031
GO:0016020 membrane IBA 21873635
genes like me logo Genes that share ontologies with CASKIN1: view

Pathways & Interactions for CASKIN1 Gene

PathCards logo

SuperPathways for CASKIN1 Gene

No Data Available

Gene Ontology (GO) - Biological Process for CASKIN1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007165 signal transduction ISS 12040031
genes like me logo Genes that share ontologies with CASKIN1: view

No data available for Pathways by source and SIGNOR curated interactions for CASKIN1 Gene

Drugs & Compounds for CASKIN1 Gene

No Compound Related Data Available

Transcripts for CASKIN1 Gene

mRNA/cDNA for CASKIN1 Gene

3 NCBI additional mRNA sequence :
3 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 CASKIN1

Alternative Splicing Database (ASD) splice patterns (SP) for CASKIN1 Gene

ExUns: 1 ^ 2a · 2b · 2c ^ 3 ^ 4a · 4b · 4c ^ 5a · 5b ^ 6 ^ 7 ^ 8
SP1: - - - - - - -
SP2: - - - - -
SP3: - - -
SP4: -
SP5: - -

Relevant External Links for CASKIN1 Gene

GeneLoc Exon Structure for

Expression for CASKIN1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for CASKIN1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

  • Bone (Muscoskeletal System)

mRNA differential expression in normal tissues according to GTEx for CASKIN1 Gene

This gene is overexpressed in Brain - Cortex (x6.1), Brain - Anterior cingulate cortex (BA24) (x5.3), Brain - Frontal Cortex (BA9) (x5.0), Brain - Hippocampus (x4.4), Brain - Nucleus accumbens (basal ganglia) (x4.3), Brain - Putamen (basal ganglia) (x4.2), and Brain - Amygdala (x4.1).

Protein differential expression in normal tissues from HIPED for CASKIN1 Gene

This gene is overexpressed in Frontal cortex (29.6), Brain (23.0), and Retina (7.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for CASKIN1 Gene

Protein tissue co-expression partners for CASKIN1 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for CASKIN1

SOURCE GeneReport for Unigene cluster for CASKIN1 Gene:


Evidence on tissue expression from TISSUES for CASKIN1 Gene

  • Nervous system(4.6)
genes like me logo Genes that share expression patterns with CASKIN1: view

No data available for mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for CASKIN1 Gene

Orthologs for CASKIN1 Gene

This gene was present in the common ancestor of animals.

Orthologs for CASKIN1 Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia CASKIN1 30 31
  • 98.97 (n)
(Ornithorhynchus anatinus)
Mammalia CASKIN1 31
  • 88 (a)
(Canis familiaris)
Mammalia CASKIN1 30 31
  • 87.5 (n)
(Bos Taurus)
Mammalia CASKIN1 30 31
  • 87.43 (n)
(Rattus norvegicus)
Mammalia Caskin1 30
  • 84.83 (n)
(Mus musculus)
Mammalia Caskin1 30 17 31
  • 84.05 (n)
(Monodelphis domestica)
Mammalia CASKIN1 31
  • 80 (a)
(Gallus gallus)
Aves CASKIN1 31
  • 74 (a)
(Anolis carolinensis)
Reptilia CASKIN1 31
  • 66 (a)
(Danio rerio)
Actinopterygii CASKIN1 (2 of 2) 31
  • 58 (a)
CASKIN1 (1 of 2) 31
  • 47 (a)
Fruit Fly
(Drosophila melanogaster)
Insecta CG12424 32
  • 44 (a)
ckn 31
  • 22 (a)
(Caenorhabditis elegans)
Secernentea C46H3.3 31
  • 32 (a)
Species where no ortholog for CASKIN1 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)
  • 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)
  • Tropical Clawed Frog (Silurana tropicalis)
  • Wheat (Triticum aestivum)

Evolution for CASKIN1 Gene

Gene Tree for CASKIN1 (if available)
Gene Tree for CASKIN1 (if available)
Evolutionary constrained regions (ECRs) for CASKIN1: view image

Paralogs for CASKIN1 Gene

Paralogs for CASKIN1 Gene

(3) SIMAP similar genes for CASKIN1 Gene using alignment to 3 proteins:

  • D3DU87_HUMAN
genes like me logo Genes that share paralogs with CASKIN1: view

Variants for CASKIN1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for CASKIN1 Gene

SNP ID Clinical significance and condition Chr 16 pos Variation AA Info Type
807957 Uncertain Significance: not provided 2,181,272(-) C/T MISSENSE_VARIANT
807958 Uncertain Significance: not provided 2,183,654(-) G/A MISSENSE_VARIANT

Additional dbSNP identifiers (rs#s) for CASKIN1 Gene

Structural Variations from Database of Genomic Variants (DGV) for CASKIN1 Gene

Variant ID Type Subtype PubMed ID
dgv456n67 CNV gain 20364138
dgv4859n54 CNV loss 21841781
dgv4861n54 CNV loss 21841781
dgv4863n54 CNV loss 21841781
esv2422427 CNV duplication 17116639
nsv1052260 CNV gain 25217958
nsv1071251 CNV deletion 25765185
nsv1144752 CNV deletion 24896259
nsv457349 CNV loss 19166990
nsv457351 CNV loss 19166990
nsv471072 CNV loss 18288195
nsv475671 CNV novel sequence insertion 20440878
nsv571190 CNV loss 21841781
nsv827511 CNV gain 20364138
nsv952902 CNV deletion 24416366

Variation tolerance for CASKIN1 Gene

Residual Variation Intolerance Score: 11.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.61; 65.42% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for CASKIN1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CASKIN1 Gene

Disorders for CASKIN1 Gene

Additional Disease Information for CASKIN1

No disorders were found for CASKIN1 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for CASKIN1 Gene

Publications for CASKIN1 Gene

  1. CASK participates in alternative tripartite complexes in which Mint 1 competes for binding with caskin 1, a novel CASK-binding protein. (PMID: 12040031) Tabuchi K … Sudhof TC (The Journal of neuroscience : the official journal of the Society for Neuroscience 2002) 2 3 4
  2. Tandem SAM domain structure of human Caskin1: a presynaptic, self-assembling scaffold for CASK. (PMID: 22153505) Stafford RL … Bowie JU (Structure (London, England : 1993) 2011) 3 4
  3. Hundreds of variants clustered in genomic loci and biological pathways affect human height. (PMID: 20881960) Lango Allen H … Hirschhorn JN (Nature 2010) 3 41
  4. Prediction of the coding sequences of unidentified human genes. XVI. The complete sequences of 150 new cDNA clones from brain which code for large proteins in vitro. (PMID: 10718198) Nagase T … Ohara O (DNA research : an international journal for rapid publication of reports on genes and genomes 2000) 3 4
  5. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3

Products for CASKIN1 Gene

Sources for CASKIN1 Gene