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Aliases for CASKIN1 Gene

Aliases for CASKIN1 Gene

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

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 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 , fRNAdb sequence ontologies and piRNA Summary for CASKIN1 Gene

Genomics for CASKIN1 Gene

Regulatory Elements for CASKIN1 Gene

Enhancers for CASKIN1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH16H002147 2 FANTOM5 Ensembl ENCODE dbSUPER 12.9 +40.7 40735 17 MLX ZFP64 YBX1 FEZF1 DMAP1 YY1 SLC30A9 ZNF143 SP3 NFYC CRAMP1 ENSG00000260051 ENSG00000261505 TELO2 TBL3 UNKL E4F1 TSC2 SRRM2 ZNF213-AS1
GH16H002511 1.9 FANTOM5 Ensembl ENCODE dbSUPER 2.5 -319.9 -319928 10 HDGF PKNOX1 ARNT ARID4B SIN3A DMAP1 YY1 ZNF143 ZNF207 FOS ZNF75A CRAMP1 TBC1D24 IFT140 ZNF213-AS1 ZNF174 ZNF263 ERVK13-1 TSC2 SNHG19
GH16H002194 0.9 ENCODE 0.7 +1.5 1461 0 HDGF ATF1 PTBP1 RB1 ARID4B SIN3A RAD21 ZNF121 ZNF143 RCOR1 CASKIN1 GC16M002178
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around CASKIN1 on UCSC Golden Path with GeneCards custom track

Promoters for CASKIN1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000082453 -75 801 MAZ RB1 ZNF692 NRF1 ZBTB8A ZBTB26 EZH2

Genomic Location for CASKIN1 Gene

Chromosome:
16
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

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:
    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

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

Suggested Antigen Peptide Sequences for CASKIN1 Gene

Graphical View of Domain Structure for InterPro Entry

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

No data available for 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
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

Clone Products

  • Applied Biological Materials Clones for CASKIN1
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

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

Cytoplasm.

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 CASKIN1 gene
Compartment Confidence
nucleus 3
cytosol 3

Subcellular locations from the

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

Gene Ontology (GO) - Cellular Components for CASKIN1 Gene

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

Pathways & Interactions 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 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

(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:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for CASKIN1
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

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 from GTEx, Illumina, BioGPS, and CGAP SAGE for CASKIN1 Gene

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, PaxDb, MaxQB, and MOPED for CASKIN1 Gene



Protein tissue co-expression partners for CASKIN1 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of CASKIN1 Gene:

CASKIN1

SOURCE GeneReport for Unigene cluster for CASKIN1 Gene:

Hs.643537

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

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , 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
chimpanzee
(Pan troglodytes)
Mammalia CASKIN1 33 34
  • 98.97 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia CASKIN1 34
  • 88 (a)
OneToOne
dog
(Canis familiaris)
Mammalia CASKIN1 33 34
  • 87.5 (n)
cow
(Bos Taurus)
Mammalia CASKIN1 33 34
  • 87.43 (n)
rat
(Rattus norvegicus)
Mammalia Caskin1 33
  • 84.83 (n)
mouse
(Mus musculus)
Mammalia Caskin1 33 16 34
  • 84.05 (n)
oppossum
(Monodelphis domestica)
Mammalia CASKIN1 34
  • 80 (a)
OneToOne
chicken
(Gallus gallus)
Aves CASKIN1 34
  • 74 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia CASKIN1 34
  • 66 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii CASKIN1 (2 of 2) 34
  • 58 (a)
OneToMany
CASKIN1 (1 of 2) 34
  • 47 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta CG12424 35
  • 44 (a)
ckn 34
  • 22 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea C46H3.3 34
  • 32 (a)
OneToOne
Species where no ortholog for CASKIN1 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)
  • 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

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

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
rs1000086408 -- 2,198,111(+) TTTCT(C/G)AGACA upstream-variant-2KB
rs1000183439 -- 2,193,621(+) CACAC(C/T)TTCAG intron-variant
rs1000202869 -- 2,197,380(+) CCACT(C/T)TCCAG upstream-variant-2KB
rs1000280463 -- 2,187,802(+) TTTTA(A/G)TAGAG intron-variant
rs1000423787 -- 2,184,112(+) GTCCG(C/T)GGTCC intron-variant

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)

Relevant External Links for CASKIN1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
CASKIN1

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

Disorders for CASKIN1 Gene

Relevant External Links for CASKIN1

Genetic Association Database (GAD)
CASKIN1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
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 60
  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 60
  3. Hundreds of variants clustered in genomic loci and biological pathways affect human height. (PMID: 20881960) Lango Allen H … Hirschhorn JN (Nature 2010) 3 45 60
  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 60
  5. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 60

Products for CASKIN1 Gene

Sources for CASKIN1 Gene

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