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    CASK calcium/calmodulin dependent serine protein kinase [ Homo sapiens (human) ]

    Gene ID: 8573, updated on 3-Nov-2024

    Summary

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    Official Symbol
    CASKprovided by HGNC
    Official Full Name
    calcium/calmodulin dependent serine protein kinaseprovided by HGNC
    Primary source
    HGNC:HGNC:1497
    See related
    Ensembl:ENSG00000147044 MIM:300172; AllianceGenome:HGNC:1497
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    CMG; FGS4; LIN2; TNRC8; hCASK; CAGH39; CAMGUK; MICPCH; MRXSNA
    Summary
    This gene encodes a calcium/calmodulin-dependent serine protein kinase. The encoded protein is a MAGUK (membrane-associated guanylate kinase) protein family member. These proteins are scaffold proteins and the encoded protein is located at synapses in the brain. Mutations in this gene are associated with FG syndrome 4, intellectual disability and microcephaly with pontine and cerebellar hypoplasia, and a form of X-linked intellectual disability. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2017]
    Expression
    Ubiquitous expression in duodenum (RPKM 8.0), small intestine (RPKM 7.8) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See CASK in Genome Data Viewer
    Location:
    Xp11.4
    Exon count:
    28
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) X NC_000023.11 (41514934..41923554, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) X NC_060947.1 (40919852..41328508, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (41374187..41782807, complement)

    Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene Sharpr-MPRA regulatory region 15169 Neighboring gene H3K27ac hESC enhancer GRCh37_chrX:41244756-41245273 Neighboring gene RNA, 7SL, cytoplasmic 15, pseudogene Neighboring gene DEAD-box helicase 3 X-linked Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29555 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20775 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29556 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29557 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29558 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29559 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chrX:41334409-41335000 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29560 Neighboring gene NANOG hESC enhancer GRCh37_chrX:41376070-41376571 Neighboring gene GEMIN7 pseudogene 1 Neighboring gene nyctalopin Neighboring gene CASK antisense RNA 1 Neighboring gene RNA, U6 small nuclear 1321, pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20776 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20777 Neighboring gene NANOG hESC enhancer GRCh37_chrX:41464273-41464774 Neighboring gene uncharacterized LOC124905180 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29561 Neighboring gene H3K4me1 hESC enhancer GRCh37_chrX:41570764-41571264 Neighboring gene H3K4me1 hESC enhancer GRCh37_chrX:41571265-41571765 Neighboring gene RNA, 7SL, cytoplasmic 144, pseudogene Neighboring gene YWHAZ pseudogene 10 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chrX:41577964-41578464 Neighboring gene G protein-coupled receptor 34 Neighboring gene ribosomal protein S15a pseudogene 39 Neighboring gene G protein-coupled receptor 82 Neighboring gene NANOG hESC enhancer GRCh37_chrX:41662134-41662675 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20778 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20779 Neighboring gene RNA, U6 small nuclear 202, pseudogene Neighboring gene MED14-independent group 3 enhancer GRCh37_chrX:41944854-41946053 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20780 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29562 Neighboring gene ATP5MC2 pseudogene 4 Neighboring gene RNA, U6 small nuclear 630, pseudogene

    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. CASK mutations are frequent in males and cause X-linked nystagmus and variable XLMR phenotypes. Hackett A, et al. Eur J Hum Genet, 2010 May. PMID 20029458, Free PMC Article
    2. Functional analysis of CASK transcript variants expressed in human brain. Tibbe D, et al. PLoS One, 2021. PMID 34133460, Free PMC Article
    3. Genetic heterogeneity of FG syndrome: a fourth locus (FGS4) maps to Xp11.4-p11.3 in an Italian family. Piluso G, et al. Hum Genet, 2003 Feb. PMID 12522552
    4. CASK related disorder: Epilepsy and developmental outcome. Giacomini T, et al. Eur J Paediatr Neurol, 2021 Mar. PMID 33640666
    5. Microcephaly, disproportionate pontine, and cerebellar hypoplasia syndrome: Two novel mutations in the CASK gene were discovered in Chinese females. Zhao J, et al. Int J Dev Neurosci, 2021 May. PMID 33629417

    See all (176) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Genetic evidence for splicing-dependent structural and functional plasticity in CASK protein.
      Title: Genetic evidence for splicing-dependent structural and functional plasticity in CASK protein.
    2. Diverse Clinical Phenotypes of CASK-Related Disorders and Multiple Functional Domains of CASK Protein.
      Title: Diverse Clinical Phenotypes of CASK-Related Disorders and Multiple Functional Domains of CASK Protein.
    3. Calcium/calmodulin-dependent serine protein kinase exacerbates mitochondrial calcium uniporter-related mitochondrial calcium overload by phosphorylating alpha-synuclein in Parkinson's disease.
      Title: Calcium/calmodulin-dependent serine protein kinase exacerbates mitochondrial calcium uniporter-related mitochondrial calcium overload by phosphorylating α-synuclein in Parkinson's disease.
    4. Two heterozygous mutations in the calcium/calmodulin-dependent serine protein kinase gene (CASK) in cases with developmental disorders.
      Title: Two heterozygous mutations in the calcium/calmodulin-dependent serine protein kinase gene (CASK) in cases with developmental disorders.
    5. Pathogenic variants in CASK: Expanding the genotype-phenotype correlations.
      Title: Pathogenic variants in CASK: Expanding the genotype-phenotype correlations.
    6. Identification of Pathogenic Mutations in Primary Microcephaly- (MCPH-) Related Three Genes CENPJ, CASK, and MCPH1 in Consanguineous Pakistani Families.
      Title: Identification of Pathogenic Mutations in Primary Microcephaly- (MCPH-) Related Three Genes CENPJ, CASK, and MCPH1 in Consanguineous Pakistani Families.
    7. Microcephaly, disproportionate pontine, and cerebellar hypoplasia syndrome: Two novel mutations in the CASK gene were discovered in Chinese females.
      Title: Microcephaly, disproportionate pontine, and cerebellar hypoplasia syndrome: Two novel mutations in the CASK gene were discovered in Chinese females.
    8. Functional analysis of CASK transcript variants expressed in human brain.
      Title: Functional analysis of CASK transcript variants expressed in human brain.
    9. Exploration of the Hsa-miR-1587-Protein Interaction and the Inhibition to CASK.
      Title: Exploration of the Hsa-miR-1587-Protein Interaction and the Inhibition to CASK.
    10. CASK related disorder: Epilepsy and developmental outcome.
      Title: CASK related disorder: Epilepsy and developmental outcome.
    Submit: New GeneRIF Correction See all GeneRIFs (56)

    Phenotypes

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    Review eQTL and phenotype association data in this region using PheGenI

    Associated conditions

    Description Tests
    Anemia, nonspherocytic hemolytic, due to G6PD deficiency
    MedGen: C2720289 OMIM: 300908 GeneReviews: Not available
    		not available
    FG syndrome 4
    MedGen: C1845546 OMIM: 300422 GeneReviews: CASK Disorders
    		not available
    Syndromic X-linked intellectual disability Najm type
    MedGen: C2677903 OMIM: 300749 GeneReviews: CASK Disorders
    		not available

    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

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ22219, FLJ31914

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables ATP binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables calmodulin binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables guanylate kinase activity TAS
    Traceable Author Statement
    more info
    		 PubMed 
    enables histone H2AS1 kinase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables neurexin family protein binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables protein serine kinase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables protein serine/threonine kinase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables signaling receptor binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Process Evidence Code Pubs
    involved_in GDP metabolic process IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in GMP metabolic process IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in calcium ion import IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in cell adhesion TAS
    Traceable Author Statement
    more info
    		 PubMed 
    involved_in chromatin remodeling IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in establishment of localization in cell IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in negative regulation of cell-matrix adhesion IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in negative regulation of cellular response to growth factor stimulus IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in negative regulation of keratinocyte proliferation IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in negative regulation of keratinocyte proliferation IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in negative regulation of wound healing IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in positive regulation of calcium ion import IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in positive regulation of transcription by RNA polymerase II IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in protein localization IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in protein phosphorylation IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in regulation of neurotransmitter secretion IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in regulation of synaptic vesicle exocytosis IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    located_in Schaffer collateral - CA1 synapse IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in actin cytoskeleton TAS
    Traceable Author Statement
    more info
    		 PubMed 
    colocalizes_with basement membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in basement membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    is_active_in basolateral plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    is_active_in cell-cell junction IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in cell-cell junction IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in ciliary membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in cytosol TAS
    Traceable Author Statement
    more info
    		  
    located_in focal adhesion HDA PubMed 
    located_in nuclear lamina IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in nuclear matrix IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in nucleolus IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    is_active_in plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in presynaptic membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    located_in vesicle IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    peripheral plasma membrane protein CASK
    Names
    calcium/calmodulin-dependent serin protein kinase
    calcium/calmodulin-dependent serine protein kinase (MAGUK family)
    calcium/calmodulin-dependent serine protein kinase membrane-associated guanylate kinase
    protein lin-2 homolog
    trinucleotide repeat containing 8
    NP_001119526.1
    NP_001119527.1
    NP_001354650.1
    NP_001397674.1
    NP_003679.2
    XP_006724629.1
    XP_011542295.1
    XP_011542296.1
    XP_011542297.1
    XP_011542298.1
    XP_011542299.1
    XP_047298557.1
    XP_054184003.1
    XP_054184004.1
    XP_054184005.1
    XP_054184006.1
    XP_054184007.1
    XP_054184008.1
    XP_054184009.1

    NCBI Reference Sequences (RefSeq)

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    NEW Try the new Transcript table

    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.

    Genomic

    1. NG_016754.2 RefSeqGene

      Range
      4481..413101
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001126054.3 → NP_001119526.1  peripheral plasma membrane protein CASK isoform 2

      See identical proteins and their annotated locations for NP_001119526.1

      Status: REVIEWED

      Source sequence(s)
      AL158144, AL353691, AL445239, AL603754, AL627402
      Consensus CDS
      CCDS48095.1
      UniProtKB/TrEMBL
      B7ZKY2
      Related
      ENSP00000495291.2, ENST00000646120.2
      Conserved Domains (6) summary
      smart00569
      Location:348 → 401
      L27; domain in receptor targeting proteins Lin-2 and Lin-7
      cd12081
      Location:593 → 654
      SH3_CASK; Src Homology 3 domain of Calcium/calmodulin-dependent Serine protein Kinase
      cd00992
      Location:488 → 568
      PDZ_signaling; PDZ domain found in a variety of Eumetazoan signaling molecules, often in tandem arrangements. May be responsible for specific protein-protein interactions, as most PDZ domains bind C-terminal polypeptides, and binding to internal (non-C-terminal) ...
      cd14094
      Location:8 → 307
      STKc_CASK; Catalytic domain of the Serine/Threonine Kinase, Calcium/calmodulin-dependent serine protein kinase
      pfam00625
      Location:710 → 883
      Guanylate_kin; Guanylate kinase
      pfam02828
      Location:406 → 456
      L27; L27 domain

    2. NM_001126055.3 → NP_001119527.1  peripheral plasma membrane protein CASK isoform 3

      See identical proteins and their annotated locations for NP_001119527.1

      Status: REVIEWED

      Source sequence(s)
      AL158144, AL353691, AL445239, AL603754, AL627402
      Consensus CDS
      CCDS48094.1
      UniProtKB/TrEMBL
      B7ZKY2
      Related
      ENSP00000494183.1, ENST00000644347.1
      Conserved Domains (6) summary
      smart00569
      Location:342 → 395
      L27; domain in receptor targeting proteins Lin-2 and Lin-7
      cd12081
      Location:587 → 648
      SH3_CASK; Src Homology 3 domain of Calcium/calmodulin-dependent Serine protein Kinase
      cd00992
      Location:482 → 562
      PDZ_signaling; PDZ domain found in a variety of Eumetazoan signaling molecules, often in tandem arrangements. May be responsible for specific protein-protein interactions, as most PDZ domains bind C-terminal polypeptides, and binding to internal (non-C-terminal) ...
      cd14094
      Location:8 → 307
      STKc_CASK; Catalytic domain of the Serine/Threonine Kinase, Calcium/calmodulin-dependent serine protein kinase
      pfam00625
      Location:709 → 882
      Guanylate_kin; Guanylate kinase
      pfam02828
      Location:400 → 450
      L27; L27 domain

    3. NM_001367721.1 → NP_001354650.1  peripheral plasma membrane protein CASK isoform 4

      Status: REVIEWED

      Source sequence(s)
      AL158144, AL353691, AL445239, AL603754, AL627402
      Consensus CDS
      CCDS94598.1
      UniProtKB/Swiss-Prot
      A6NES1, B7ZKY0, O14936, O43215, Q17RI4, Q59HA0, Q5VT16, Q5VT17, Q5VT18, Q5VT19, Q66T42, Q9BYH6, Q9NYB2, Q9NYB3
      UniProtKB/TrEMBL
      B7ZKY2
      Related
      ENSP00000367405.1, ENST00000378163.7
      Conserved Domains (6) summary
      smart00569
      Location:348 → 401
      L27; domain in receptor targeting proteins Lin-2 and Lin-7
      cd12081
      Location:616 → 677
      SH3_CASK; Src Homology 3 domain of Calcium/calmodulin-dependent Serine protein Kinase
      cd00992
      Location:488 → 568
      PDZ_signaling; PDZ domain found in a variety of Eumetazoan signaling molecules, often in tandem arrangements. May be responsible for specific protein-protein interactions, as most PDZ domains bind C-terminal polypeptides, and binding to internal (non-C-terminal) ...
      cd14094
      Location:8 → 307
      STKc_CASK; Catalytic domain of the Serine/Threonine Kinase, Calcium/calmodulin-dependent serine protein kinase
      pfam00625
      Location:738 → 911
      Guanylate_kin; Guanylate kinase
      pfam02828
      Location:406 → 456
      L27; L27 domain

    4. NM_001410745.1 → NP_001397674.1  peripheral plasma membrane protein CASK isoform 5

      Status: REVIEWED

      Source sequence(s)
      AL158144, AL353691, AL445239, AL603754, AL627402
      Consensus CDS
      CCDS94597.1
      UniProtKB/TrEMBL
      A0A2R8YE77
      Related
      ENSP00000495357.1, ENST00000644219.1

    5. NM_003688.4 → NP_003679.2  peripheral plasma membrane protein CASK isoform 1

      See identical proteins and their annotated locations for NP_003679.2

      Status: REVIEWED

      Source sequence(s)
      AL158144, AL353691, AL445239, AL603754, AL627402
      Consensus CDS
      CCDS14257.1
      UniProtKB/TrEMBL
      B7ZKY2
      Related
      ENSP00000494788.1, ENST00000645566.1
      Conserved Domains (6) summary
      smart00569
      Location:348 → 401
      L27; domain in receptor targeting proteins Lin-2 and Lin-7
      cd12081
      Location:616 → 677
      SH3_CASK; Src Homology 3 domain of Calcium/calmodulin-dependent Serine protein Kinase
      cd00992
      Location:488 → 568
      PDZ_signaling; PDZ domain found in a variety of Eumetazoan signaling molecules, often in tandem arrangements. May be responsible for specific protein-protein interactions, as most PDZ domains bind C-terminal polypeptides, and binding to internal (non-C-terminal) ...
      cd14094
      Location:8 → 307
      STKc_CASK; Catalytic domain of the Serine/Threonine Kinase, Calcium/calmodulin-dependent serine protein kinase
      pfam00625
      Location:733 → 906
      Guanylate_kin; Guanylate kinase
      pfam02828
      Location:406 → 456
      L27; L27 domain

    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_000023.11 Reference GRCh38.p14 Primary Assembly

      Range
      41514934..41923554 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006724566.4 → XP_006724629.1  peripheral plasma membrane protein CASK isoform X6

      See identical proteins and their annotated locations for XP_006724629.1

      UniProtKB/TrEMBL
      B7ZKY2
      Related
      ENSP00000398007.3, ENST00000442742.7
      Conserved Domains (6) summary
      smart00569
      Location:342 → 395
      L27; domain in receptor targeting proteins Lin-2 and Lin-7
      cd12081
      Location:575 → 636
      SH3_CASK; Src Homology 3 domain of Calcium/calmodulin-dependent Serine protein Kinase
      cd00992
      Location:482 → 562
      PDZ_signaling; PDZ domain found in a variety of Eumetazoan signaling molecules, often in tandem arrangements. May be responsible for specific protein-protein interactions, as most PDZ domains bind C-terminal polypeptides, and binding to internal (non-C-terminal) ...
      cd14094
      Location:8 → 307
      STKc_CASK; Catalytic domain of the Serine/Threonine Kinase, Calcium/calmodulin-dependent serine protein kinase
      pfam00625
      Location:697 → 870
      Guanylate_kin; Guanylate kinase
      pfam02828
      Location:400 → 450
      L27; L27 domain

    2. XM_047442601.1 → XP_047298557.1  peripheral plasma membrane protein CASK isoform X3

      UniProtKB/TrEMBL
      A0A2U3TZM1
      Related
      ENSP00000367400.2, ENST00000378158.6

    3. XM_011543996.3 → XP_011542298.1  peripheral plasma membrane protein CASK isoform X5

      UniProtKB/TrEMBL
      B7ZKY2
      Conserved Domains (6) summary
      smart00569
      Location:348 → 401
      L27; domain in receptor targeting proteins Lin-2 and Lin-7
      cd12081
      Location:581 → 642
      SH3_CASK; Src Homology 3 domain of Calcium/calmodulin-dependent Serine protein Kinase
      cd00992
      Location:488 → 568
      PDZ_signaling; PDZ domain found in a variety of Eumetazoan signaling molecules, often in tandem arrangements. May be responsible for specific protein-protein interactions, as most PDZ domains bind C-terminal polypeptides, and binding to internal (non-C-terminal) ...
      cd14094
      Location:8 → 313
      STKc_CASK; Catalytic domain of the Serine/Threonine Kinase, Calcium/calmodulin-dependent serine protein kinase
      pfam00625
      Location:703 → 876
      Guanylate_kin; Guanylate kinase
      pfam02828
      Location:406 → 456
      L27; L27 domain

    4. XM_011543995.3 → XP_011542297.1  peripheral plasma membrane protein CASK isoform X4

      See identical proteins and their annotated locations for XP_011542297.1

      UniProtKB/TrEMBL
      A0A7I2RJN6, B7ZKY2
      Related
      ENSP00000400526.4, ENST00000421587.8
      Conserved Domains (6) summary
      smart00569
      Location:348 → 401
      L27; domain in receptor targeting proteins Lin-2 and Lin-7
      cd12081
      Location:593 → 654
      SH3_CASK; Src Homology 3 domain of Calcium/calmodulin-dependent Serine protein Kinase
      cd00992
      Location:488 → 568
      PDZ_signaling; PDZ domain found in a variety of Eumetazoan signaling molecules, often in tandem arrangements. May be responsible for specific protein-protein interactions, as most PDZ domains bind C-terminal polypeptides, and binding to internal (non-C-terminal) ...
      cd14094
      Location:8 → 313
      STKc_CASK; Catalytic domain of the Serine/Threonine Kinase, Calcium/calmodulin-dependent serine protein kinase
      pfam00625
      Location:715 → 888
      Guanylate_kin; Guanylate kinase
      pfam02828
      Location:406 → 456
      L27; L27 domain

    5. XM_011543994.3 → XP_011542296.1  peripheral plasma membrane protein CASK isoform X2

      See identical proteins and their annotated locations for XP_011542296.1

      UniProtKB/TrEMBL
      B7ZKY2
      Conserved Domains (6) summary
      smart00569
      Location:348 → 401
      L27; domain in receptor targeting proteins Lin-2 and Lin-7
      cd12081
      Location:604 → 665
      SH3_CASK; Src Homology 3 domain of Calcium/calmodulin-dependent Serine protein Kinase
      cd00992
      Location:488 → 568
      PDZ_signaling; PDZ domain found in a variety of Eumetazoan signaling molecules, often in tandem arrangements. May be responsible for specific protein-protein interactions, as most PDZ domains bind C-terminal polypeptides, and binding to internal (non-C-terminal) ...
      cd14094
      Location:8 → 313
      STKc_CASK; Catalytic domain of the Serine/Threonine Kinase, Calcium/calmodulin-dependent serine protein kinase
      pfam00625
      Location:726 → 899
      Guanylate_kin; Guanylate kinase
      pfam02828
      Location:406 → 456
      L27; L27 domain

    6. XM_011543993.3 → XP_011542295.1  peripheral plasma membrane protein CASK isoform X1

      See identical proteins and their annotated locations for XP_011542295.1

      UniProtKB/TrEMBL
      B7ZKY2
      Conserved Domains (6) summary
      smart00569
      Location:348 → 401
      L27; domain in receptor targeting proteins Lin-2 and Lin-7
      cd12081
      Location:616 → 677
      SH3_CASK; Src Homology 3 domain of Calcium/calmodulin-dependent Serine protein Kinase
      cd00992
      Location:488 → 568
      PDZ_signaling; PDZ domain found in a variety of Eumetazoan signaling molecules, often in tandem arrangements. May be responsible for specific protein-protein interactions, as most PDZ domains bind C-terminal polypeptides, and binding to internal (non-C-terminal) ...
      cd14094
      Location:8 → 313
      STKc_CASK; Catalytic domain of the Serine/Threonine Kinase, Calcium/calmodulin-dependent serine protein kinase
      pfam00625
      Location:738 → 911
      Guanylate_kin; Guanylate kinase
      pfam02828
      Location:406 → 456
      L27; L27 domain

    7. XM_011543997.4 → XP_011542299.1  peripheral plasma membrane protein CASK isoform X7

      UniProtKB/TrEMBL
      A0A2R8Y6F8
      Related
      ENSP00000495510.2, ENST00000646087.2
      Conserved Domains (6) summary
      smart00569
      Location:157 → 210
      L27; domain in receptor targeting proteins Lin-2 and Lin-7
      cd12081
      Location:425 → 486
      SH3_CASK; Src Homology 3 domain of Calcium/calmodulin-dependent Serine protein Kinase
      cd00992
      Location:297 → 377
      PDZ_signaling; PDZ domain found in a variety of Eumetazoan signaling molecules, often in tandem arrangements. May be responsible for specific protein-protein interactions, as most PDZ domains bind C-terminal polypeptides, and binding to internal (non-C-terminal) ...
      pfam00625
      Location:547 → 720
      Guanylate_kin; Guanylate kinase
      pfam02828
      Location:215 → 265
      L27; L27 domain
      cl21453
      Location:1 → 122
      PKc_like; Protein Kinases, catalytic domain

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060947.1 Alternate T2T-CHM13v2.0

      Range
      40919852..41328508 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054328033.1 → XP_054184008.1  peripheral plasma membrane protein CASK isoform X6

    2. XM_054328030.1 → XP_054184005.1  peripheral plasma membrane protein CASK isoform X3

      UniProtKB/TrEMBL
      A0A2U3TZM1

    3. XM_054328032.1 → XP_054184007.1  peripheral plasma membrane protein CASK isoform X5

    4. XM_054328031.1 → XP_054184006.1  peripheral plasma membrane protein CASK isoform X4

      UniProtKB/TrEMBL
      A0A7I2RJN6

    5. XM_054328029.1 → XP_054184004.1  peripheral plasma membrane protein CASK isoform X2

    6. XM_054328028.1 → XP_054184003.1  peripheral plasma membrane protein CASK isoform X1

    7. XM_054328034.1 → XP_054184009.1  peripheral plasma membrane protein CASK isoform X7

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    O14936.3 GenPept UniProtKB/Swiss-Prot:O14936

    Gene LinkOut

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