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

Gene ID: 57524, updated on 2-Nov-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, Nov 2024]
Expression
Broad expression in brain (RPKM 9.2), colon (RPKM 2.0) and 23 other tissues See more
Orthologs
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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)

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

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