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Aliases for CASKIN1 Gene

Aliases for CASKIN1 Gene

  • CASK Interacting Protein 1 2 3
  • CASK-Interacting Protein 1 3 4
  • KIAA1306 4 6
  • Caskin-1 3
  • ANKS5A 3

External Ids for CASKIN1 Gene

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 ANKS1A.

UniProtKB/Swiss-Prot for CASKIN1 Gene

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

No data available for Entrez Gene Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CASKIN1 Gene

Genomics for CASKIN1 Gene

Genomic Location for CASKIN1 Gene

Start:
2,177,180 bp from pter
End:
2,196,525 bp from pter
Size:
19,346 bases
Orientation:
Minus strand

Genomic View for CASKIN1 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for CASKIN1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CASKIN1 Gene

Regulatory Elements for CASKIN1 Gene

Proteins for CASKIN1 Gene

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

    Protein Symbol:
    Q8WXD9-CSKI1_HUMAN
    Recommended name:
    Caskin-1
    Protein Accession:
    Q8WXD9
    Secondary Accessions:
    • Q9P2P0

    Protein attributes for CASKIN1 Gene

    Size:
    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

Proteomics data for CASKIN1 Gene at MOPED

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 for CASKIN1 Gene

Gene Families for CASKIN1 Gene

HGNC:
  • ANKRD :Ankyrin repeat domain containing
  • SAMD :Sterile alpha motif (SAM) domain containing

UniProtKB/Swiss-Prot:

CSKI1_HUMAN
Domain:
  • Contains 2 SAM (sterile alpha motif) domains.:
    • Q8WXD9
  • Contains 1 SH3 domain.:
    • Q8WXD9
Similarity:
  • Contains 6 ANK repeats.:
    • Q8WXD9
genes like me logo Genes that share domains with CASKIN1: view

Function for CASKIN1 Gene

Molecular function for CASKIN1 Gene

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

Gene Ontology (GO) - Molecular Function for CASKIN1 Gene

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

Phenotypes for CASKIN1 Gene

genes like me logo Genes that share phenotypes with CASKIN1: view

No data available for Enzyme Numbers (IUBMB) , Animal Models , miRNA , Transcription Factor Targeting and HOMER Transcription for CASKIN1 Gene

Localization for CASKIN1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for CASKIN1 Gene

Cytoplasm.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for CASKIN1 Gene COMPARTMENTS Subcellular localization image for CASKIN1 gene
Compartment Confidence
cytosol 3
nucleus 3

Gene Ontology (GO) - Cellular Components for CASKIN1 Gene

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

Pathways for CASKIN1 Gene

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 for CASKIN1 Gene

Transcripts for CASKIN1 Gene

mRNA/cDNA for CASKIN1 Gene

(1) REFSEQ mRNAs :
(3) Additional mRNA sequences :
(15) Selected AceView cDNA sequences:
(3) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for CASKIN1 Gene

CASK interacting protein 1:
Representative Sequences:

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: - -
SP6:
SP7:

Relevant External Links for CASKIN1 Gene

GeneLoc Exon Structure for
CASKIN1
ECgene alternative splicing isoforms for
CASKIN1

Expression for CASKIN1 Gene

mRNA expression in normal human tissues for CASKIN1 Gene

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

This gene is overexpressed in Brain - Cortex (6.1), Brain - Anterior cingulate cortex (BA24) (5.3), Brain - Frontal Cortex (BA9) (5.0), Brain - Hippocampus (4.4), Brain - Nucleus accumbens (basal ganglia) (4.3), Brain - Putamen (basal ganglia) (4.2), and Brain - Amygdala (4.1).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for CASKIN1 Gene

SOURCE GeneReport for Unigene cluster for CASKIN1 Gene Hs.643537

genes like me logo Genes that share expressions with CASKIN1: view

Orthologs for CASKIN1 Gene

This gene was present in the common ancestor of animals.

Orthologs for CASKIN1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia CASKIN1 36
  • 98.97 (n)
  • 99.13 (a)
CASKIN1 37
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia CASKIN1 36
  • 87.43 (n)
  • 91.23 (a)
CASKIN1 37
  • 91 (a)
OneToOne
dog
(Canis familiaris)
Mammalia CASKIN1 36
  • 87.5 (n)
  • 90.59 (a)
CASKIN1 37
  • 86 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Caskin1 36
  • 84.05 (n)
  • 90.25 (a)
Caskin1 16
Caskin1 37
  • 90 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia CASKIN1 37
  • 80 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia CASKIN1 37
  • 88 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Caskin1 36
  • 84.83 (n)
  • 90.39 (a)
chicken
(Gallus gallus)
Aves CASKIN1 37
  • 74 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia CASKIN1 37
  • 66 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii CASKIN1 (1 of 2) 37
  • 47 (a)
OneToMany
CASKIN1 (2 of 2) 37
  • 58 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta ckn 37
  • 22 (a)
OneToOne
CG12424 38
  • 44 (a)
worm
(Caenorhabditis elegans)
Secernentea C46H3.3 37
  • 32 (a)
OneToOne
Species with no ortholog for CASKIN1:
  • 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)
  • 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)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)

Evolution for CASKIN1 Gene

ENSEMBL:
Gene Tree for CASKIN1 (if available)
TreeFam:
Gene Tree for CASKIN1 (if available)

Paralogs for CASKIN1 Gene

Paralogs for CASKIN1 Gene

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

Pseudogenes.org Pseudogenes for CASKIN1 Gene

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

Variants for CASKIN1 Gene

Sequence variations from dbSNP and Humsavar for CASKIN1 Gene

SNP ID Clin Chr 16 pos Sequence Context AA Info Type MAF
rs25848 -- 2,186,610(+) AAACC(C/T)AGCCC intron-variant
rs26828 -- 2,194,530(+) GAGGA(C/T)ACTGC intron-variant
rs26829 -- 2,193,304(-) catgg(C/T)ggctc intron-variant
rs26830 -- 2,193,020(-) aaaag(A/G)aaaag intron-variant
rs26831 -- 2,191,483(+) AGCCG(C/G)GGGTG intron-variant

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

Variant ID Type Subtype PubMed ID
esv2422427 CNV Duplication 17116639
dgv2540n71 CNV Loss 21882294
dgv2544n71 CNV Loss 21882294
dgv2545n71 CNV Loss 21882294
dgv2546n71 CNV Loss 21882294
dgv2549n71 CNV Loss 21882294
dgv2550n71 CNV Loss 21882294
nsv471072 CNV Loss 18288195
dgv2556n71 CNV Loss 21882294
dgv2557n71 CNV Loss 21882294
nsv457349 CNV Loss 19166990
dgv2558n71 CNV Loss 21882294
dgv2562n71 CNV Loss 21882294
dgv2563n71 CNV Loss 21882294
nsv905131 CNV Loss 21882294
nsv457351 CNV Loss 19166990
nsv905132 CNV Loss 21882294
dgv456n67 CNV Gain 20364138
dgv2565n71 CNV Loss 21882294
nsv827511 CNV Gain 20364138
dgv2566n71 CNV Loss 21882294

Relevant External Links for CASKIN1 Gene

HapMap Linkage Disequilibrium report
CASKIN1

Disorders for CASKIN1 Gene

Relevant External Links for CASKIN1

Genetic Association Database (GAD)
CASKIN1
genes like me logo Genes that share disorders with CASKIN1: view

No data available for UniProtKB/Swiss-Prot 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. … Suedhof T.C. (J. Neurosci. 2002) 2 3 4
  2. Hundreds of variants clustered in genomic loci and biological pathways affect human height. (PMID: 20881960) Lango Allen H. … Hirschhorn J.N. (Nature 2010) 3 49
  3. 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 Res. 2000) 3 4
  4. Tandem SAM domain structure of human Caskin1: a presynaptic, self- assembling scaffold for CASK. (PMID: 22153505) Stafford R.L. … Bowie J.U. (Structure 2011) 3 4
  5. The molecular basis of the Caskin1 and Mint1 interaction with CASK. (PMID: 21763699) Stafford R.L. … Bowie J.U. (J. Mol. Biol. 2011) 3

Products for CASKIN1 Gene

Sources for CASKIN1 Gene

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