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    CASKIN1 CASK interacting protein 1 [ Homo sapiens (human) ]

    Gene ID: 57524, updated on 28-Oct-2024

    Summary

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    Official Symbol
    CASKIN1provided by HGNC
    Official Full Name
    CASK interacting protein 1provided by HGNC
    Primary source
    HGNC:HGNC:20879
    See related
    Ensembl:ENSG00000167971 MIM:612184; AllianceGenome:HGNC:20879
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    ANKS5A
    Summary
    Enables identical protein binding activity. Predicted to be involved in signal transduction. Predicted to be active in cytoplasm; glutamatergic synapse; and postsynapse. [provided by Alliance of Genome Resources, Oct 2024]
    Expression
    Broad expression in brain (RPKM 9.2), colon (RPKM 2.0) and 23 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See CASKIN1 in Genome Data Viewer
    Location:
    16p13.3
    Exon count:
    20
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 16 NC_000016.10 (2177180..2196605, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 16 NC_060940.1 (2199649..2219075, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (2227181..2246606, complement)

    Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:2197627-2198178 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:2198179-2198728 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:2198729-2199280 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:2199281-2199832 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:2199833-2200384 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:2200385-2200934 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:2200935-2201486 Neighboring gene RAB26, member RAS oncogene family Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10255 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7033 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10256 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:2206391-2206972 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:2206973-2207556 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:2207557-2208138 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:2209305-2209887 Neighboring gene small nucleolar RNA, C/D box 60 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:2209888-2210469 Neighboring gene small nucleolar RNA host gene 19 Neighboring gene TNF receptor associated factor 7 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:2212971-2213472 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:2213473-2213972 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:2214382-2215155 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:2215156-2215928 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:2227829-2228330 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:2232465-2232965 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:2239116-2239884 Neighboring gene MPRA-validated peak2469 silencer Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:2254430-2255270 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7034 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:2256110-2256949 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:2256950-2257788 Neighboring gene ReSE screen-validated silencer GRCh37_chr16:2260119-2260309 Neighboring gene H3K4me1 hESC enhancers GRCh37_chr16:2261749-2262562 and GRCh37_chr16:2262563-2263376 Neighboring gene MTOR associated protein, LST8 homolog Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10258 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7035 Neighboring gene Sharpr-MPRA regulatory region 5944 Neighboring gene BRICHOS domain containing 5 Neighboring gene phosphoglycolate phosphatase

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. A Missense Variant in CASKIN1's Proline-Rich Region Segregates with Psychosis in a Three-Generation Family. Wahbeh MH, et al. Genes (Basel), 2023 Jan 9. PMID 36672919, Free PMC Article
    2. Solution NMR Structure of the SH3 Domain of Human Caskin1 Validates the Lack of a Typical Peptide Binding Groove and Supports a Role in Lipid Mediator Binding. Tőke O, et al. Cells, 2021 Jan 16. PMID 33467043, Free PMC Article
    3. The SH3 domain of Caskin1 binds to lysophosphatidic acid suggesting a direct role for the lipid in intracellular signaling. Koprivanacz K, et al. Cell Signal, 2017 Apr. PMID 28104445
    4. Tandem SAM domain structure of human Caskin1: a presynaptic, self-assembling scaffold for CASK. Stafford RL, et al. Structure, 2011 Dec 7. PMID 22153505, Free PMC Article
    5. The molecular basis of the Caskin1 and Mint1 interaction with CASK. Stafford RL, et al. J Mol Biol, 2011 Sep 9. PMID 21763699, Free PMC Article

    See all (18) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. A Missense Variant in CASKIN1's Proline-Rich Region Segregates with Psychosis in a Three-Generation Family.
      Title: A Missense Variant in CASKIN1's Proline-Rich Region Segregates with Psychosis in a Three-Generation Family.
    2. Solution NMR Structure of the SH3 Domain of Human Caskin1 Validates the Lack of a Typical Peptide Binding Groove and Supports a Role in Lipid Mediator Binding.
      Title: Solution NMR Structure of the SH3 Domain of Human Caskin1 Validates the Lack of a Typical Peptide Binding Groove and Supports a Role in Lipid Mediator Binding.
    3. the SH3 domain of human Caskin1 is a lipid-binding domain rather than a proline-rich motif interacting domain.
      Title: The SH3 domain of Caskin1 binds to lysophosphatidic acid suggesting a direct role for the lipid in intracellular signaling.
    4. SAM domains of Caskin1 form a new type of SAM helical polymer.
      Title: Tandem SAM domain structure of human Caskin1: a presynaptic, self-assembling scaffold for CASK.
    5. Study shows that a short linear EEIWVLRK peptide motif from Caskin1 is necessary and sufficient for binding CASK.
      Title: The molecular basis of the Caskin1 and Mint1 interaction with CASK.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    EBI GWAS Catalog

    Description
    Hundreds of variants clustered in genomic loci and biological pathways affect human height.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables identical protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in regulation of postsynaptic density assembly IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in signal transduction ISS
    Inferred from Sequence or Structural Similarity
    more info
    		 PubMed 
    Component Evidence Code Pubs
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in cytoplasm ISS
    Inferred from Sequence or Structural Similarity
    more info
    		 PubMed 
    located_in glutamatergic synapse IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in postsynapse IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    caskin-1

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_020764.4 → NP_065815.1  caskin-1

      See identical proteins and their annotated locations for NP_065815.1

      Status: VALIDATED

      Source sequence(s)
      AC009065, AF451977
      Consensus CDS
      CCDS42103.1
      UniProtKB/Swiss-Prot
      Q8WXD9, Q9P2P0
      Related
      ENSP00000345436.6, ENST00000343516.8
      Conserved Domains (13) summary
      cd09497
      Location:471 → 536
      SAM_caskin1,2_repeat1; SAM domain of caskin protein repeat 1
      cd09498
      Location:537 → 607
      SAM_caskin1,2_repeat2; SAM domain of caskin protein repeat 2
      smart00454
      Location:470 → 532
      SAM; Sterile alpha motif
      cd12062
      Location:284 → 345
      SH3_Caskin1; Src Homology 3 domain of CASK interacting protein 1
      cd00204
      Location:43 → 168
      ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...
      pfam06484
      Location:651 → 809
      Ten_N; Teneurin Intracellular Region
      pfam12796
      Location:119 → 218
      Ank_2; Ankyrin repeats (3 copies)
      pfam13637
      Location:7 → 69
      Ank_4; Ankyrin repeats (many copies)
      pfam13857
      Location:208 → 261
      Ank_5; Ankyrin repeats (many copies)
      pfam16600
      Location:373 → 421
      Caskin1-CID; Caskin1 CASK-interaction domain
      pfam16632
      Location:1370 → 1431
      Caskin-tail; C-terminal region of Caskin
      pfam16907
      Location:876 → 947
      Caskin-Pro-rich; Proline rich region of Caskin proteins
      sd00045
      Location:114 → 145
      ANK; ANK repeat [structural motif]

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000016.10 Reference GRCh38.p14 Primary Assembly

      Range
      2177180..2196605 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_024450361.2 → XP_024306129.1  caskin-1 isoform X1

      Conserved Domains (10) summary
      cd09498
      Location:474 → 536
      SAM_caskin1,2_repeat2; SAM domain of caskin protein repeat 2
      cd12062
      Location:284 → 345
      SH3_Caskin1; Src Homology 3 domain of CASK interacting protein 1
      cd00204
      Location:43 → 168
      ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...
      sd00045
      Location:114 → 145
      ANK; ANK repeat [structural motif]
      pfam13637
      Location:7 → 69
      Ank_4; Ankyrin repeats (many copies)
      pfam16600
      Location:373 → 421
      Caskin1-CID; Caskin1 CASK-interaction domain
      pfam16632
      Location:1299 → 1360
      Caskin-tail; C-terminal region of Caskin
      pfam16907
      Location:805 → 876
      Caskin-Pro-rich; Proline rich region of Caskin proteins
      cl26386
      Location:640 → 855
      DNA_pol3_gamma3; DNA polymerase III subunits gamma and tau domain III
      cl26464
      Location:933 → 1263
      Atrophin-1; Atrophin-1 family

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060940.1 Alternate T2T-CHM13v2.0

      Range
      2199649..2219075 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054313559.1 → XP_054169534.1  caskin-1 isoform X1

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8WXD9.1 GenPept UniProtKB/Swiss-Prot:Q8WXD9

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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