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Entry version 211 (13 Feb 2019)
Sequence version 3 (17 Apr 2007)
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Protein

Peripheral plasma membrane protein CASK

Gene

CASK

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the ‘protein existence’ evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

Multidomain scaffolding protein with a role in synaptic transmembrane protein anchoring and ion channel trafficking. Contributes to neural development and regulation of gene expression via interaction with the transcription factor TBR1. Binds to cell-surface proteins, including amyloid precursor protein, neurexins and syndecans. May mediate a link between the extracellular matrix and the actin cytoskeleton via its interaction with syndecan and with the actin/spectrin-binding protein 4.1.

<p>This subsection of the <a href="http://www.uniprot.org/help/function_section">Function</a> section describes the catalytic activity of an enzyme, i.e. a chemical reaction that the enzyme catalyzes.<p><a href='/help/catalytic_activity' target='_top'>More...</a></p>Catalytic activityi

<p>This subsection of the ‘Function’ section provides information relevant to cofactors. A cofactor is any non-protein substance required for a protein to be catalytically active. Some cofactors are inorganic, such as the metal atoms zinc, iron, and copper in various oxidation states. Others, such as most vitamins, are organic.<p><a href='/help/cofactor' target='_top'>More...</a></p>Cofactori

Note: Unlike other protein kinases, does not require a divalent cation such as magnesium for catalytic activity.1 Publication

<p>This subsection of the ‘Function’ section describes regulatory mechanisms for enzymes, transporters or microbial transcription factors, and reports the components which regulate (by activation or inhibition) the reaction.<p><a href='/help/activity_regulation' target='_top'>More...</a></p>Activity regulationi

Differs from archetypal CaMK members in that the kinase domain exhibits a constitutively active conformation and the autoinhibitory region does not engage in direct contact with the ATP-binding cleft, although it still binds Ca2+/CAM.1 Publication

<p>This subsection of the ‘Function’ section describes biophysical and chemical properties, such as maximal absorption, kinetic parameters, pH dependence, redox potentials and temperature dependence.<p><a href='/help/biophysicochemical_properties' target='_top'>More...</a></p>Kineticsi

Kinetics of autophosphorylation assay were measured, rather than phosphorylation of an exogenous substrate.
  1. KM=563 µM for ATP1 Publication

    Sites

    Feature keyPosition(s)DescriptionActionsGraphical viewLength
    <p>This subsection of the ‘Function’ section describes the interaction between a single amino acid and another chemical entity. Priority is given to the annotation of physiological ligands.<p><a href='/help/binding' target='_top'>More...</a></p>Binding sitei41ATPPROSITE-ProRule annotation1
    <p>This subsection of the ‘Function’ section is used for enzymes and indicates the residues directly involved in catalysis.<p><a href='/help/act_site' target='_top'>More...</a></p>Active sitei141By similarity1

    Regions

    Feature keyPosition(s)DescriptionActionsGraphical viewLength
    <p>This subsection of the ‘Function’ section describes a region in the protein which binds nucleotide phosphates. It always involves more than one amino acid and includes all residues involved in nucleotide-binding.<p><a href='/help/np_bind' target='_top'>More...</a></p>Nucleotide bindingi18 – 26ATPPROSITE-ProRule annotation9

    <p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

    GO - Biological processi

    <p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

    Molecular functionCalmodulin-binding, Kinase, Serine/threonine-protein kinase, Transferase
    LigandATP-binding, Nucleotide-binding

    Enzyme and pathway databases

    BRENDA Comprehensive Enzyme Information System

    More...
    BRENDAi
    2.7.11.1 2681
    2.7.4.8 2681

    Reactome - a knowledgebase of biological pathways and processes

    More...
    Reactomei
    R-HSA-212676 Dopamine Neurotransmitter Release Cycle
    R-HSA-3000170 Syndecan interactions
    R-HSA-373753 Nephrin family interactions
    R-HSA-6794361 Neurexins and neuroligins

    SABIO-RK: Biochemical Reaction Kinetics Database

    More...
    SABIO-RKi
    O14936

    SignaLink: a signaling pathway resource with multi-layered regulatory networks

    More...
    SignaLinki
    O14936

    SIGNOR Signaling Network Open Resource

    More...
    SIGNORi
    O14936

    <p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

    <p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
    Recommended name:
    Peripheral plasma membrane protein CASK (EC:2.7.11.1)
    Short name:
    hCASK
    Alternative name(s):
    Calcium/calmodulin-dependent serine protein kinase
    Protein lin-2 homolog
    <p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: ‘Name’, ‘Synonyms’, ‘Ordered locus names’ and ‘ORF names’.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
    Name:CASK
    Synonyms:LIN2
    <p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
    <p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the ‘taxonomic identifier’ or ‘taxid’.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
    <p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    <p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
    • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes_manual">proteome</a> can consist of several components. <br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome X

    Organism-specific databases

    Eukaryotic Pathogen Database Resources

    More...
    EuPathDBi
    HostDB:ENSG00000147044.20

    Human Gene Nomenclature Database

    More...
    HGNCi
    HGNC:1497 CASK

    Online Mendelian Inheritance in Man (OMIM)

    More...
    MIMi
    300172 gene

    neXtProt; the human protein knowledge platform

    More...
    neXtProti
    NX_O14936

    <p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

    Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte & Seán O’Donoghue; Source: COMPARTMENTS

    Keywords - Cellular componenti

    Cell membrane, Cytoplasm, Membrane, Nucleus

    <p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

    <p>This subsection of the ‘Pathology and Biotech’ section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>Involvement in diseasei

    Mental retardation and microcephaly with pontine and cerebellar hypoplasia (MICPCH)2 Publications
    The disease is caused by mutations affecting the gene represented in this entry.
    Disease descriptionA disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. Affected individuals can manifest a severe phenotype consisting of severe intellectual deficit, congenital or postnatal microcephaly, disproportionate brainstem and cerebellar hypoplasia. A milder phenotype consists of mental retardation alone or associated with nystagmus.
    See also OMIM:300749
    Feature keyPosition(s)DescriptionActionsGraphical viewLength
    <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_062996268Y → H in MICPCH. 1 PublicationCorresponds to variant dbSNP:rs137852817EnsemblClinVar.1
    Natural variantiVAR_062997396P → S in MICPCH. 1 PublicationCorresponds to variant dbSNP:rs137852820EnsemblClinVar.1
    Natural variantiVAR_062998710D → G in MICPCH. 1 PublicationCorresponds to variant dbSNP:rs137852818EnsemblClinVar.1
    FG syndrome 4 (FGS4)1 Publication
    The disease is caused by mutations affecting the gene represented in this entry.
    Disease descriptionFG syndrome (FGS) is an X-linked disorder characterized by mental retardation, relative macrocephaly, hypotonia and constipation.
    See also OMIM:300422
    Feature keyPosition(s)DescriptionActionsGraphical viewLength
    Natural variantiVAR_05871928R → L in FGS4; does not reveal significant alterations induced by the mutation substitution; causes a partial skipping of exon 2 of the protein. 1 PublicationCorresponds to variant dbSNP:rs137852816EnsemblClinVar.1

    Keywords - Diseasei

    Disease mutation, Mental retardation

    Organism-specific databases

    DisGeNET

    More...
    DisGeNETi
    8573

    GeneReviews a resource of expert-authored, peer-reviewed disease descriptions.

    More...
    GeneReviewsi
    CASK

    MalaCards human disease database

    More...
    MalaCardsi
    CASK
    MIMi300422 phenotype
    300749 phenotype

    Open Targets

    More...
    OpenTargetsi
    ENSG00000147044

    Orphanet; a database dedicated to information on rare diseases and orphan drugs

    More...
    Orphaneti
    1934 Early infantile epileptic encephalopathy
    323 NON RARE IN EUROPE: FG syndrome phenotypic spectrum
    163937 X-linked intellectual disability, Najm type

    The Pharmacogenetics and Pharmacogenomics Knowledge Base

    More...
    PharmGKBi
    PA26081

    Chemistry databases

    ChEMBL database of bioactive drug-like small molecules

    More...
    ChEMBLi
    CHEMBL1908381

    Drug and drug target database

    More...
    DrugBanki
    DB01942 Formic Acid

    Polymorphism and mutation databases

    BioMuta curated single-nucleotide variation and disease association database

    More...
    BioMutai
    CASK

    <p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

    Molecule processing

    Feature keyPosition(s)DescriptionActionsGraphical viewLength
    <p>This subsection of the ‘PTM / Processing’ section describes the extent of a polypeptide chain in the mature protein following processing.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00000945681 – 926Peripheral plasma membrane protein CASKAdd BLAST926

    Amino acid modifications

    Feature keyPosition(s)DescriptionActionsGraphical viewLength
    <p>This subsection of the ‘PTM / Processing’ section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>Modified residuei51PhosphoserineCombined sources1
    Modified residuei151Phosphoserine; by autocatalysis1 Publication1
    Modified residuei155Phosphoserine; by autocatalysis1 Publication1
    Modified residuei182PhosphothreonineBy similarity1
    Modified residuei313PhosphoserineCombined sources1
    Isoform 5 (identifier: O14936-5)
    Modified residuei192PhosphoserineCombined sources1
    Isoform 3 (identifier: O14936-3)
    Modified residuei571PhosphoserineCombined sources1
    Isoform 4 (identifier: O14936-4)
    Modified residuei577PhosphoserineCombined sources1

    Keywords - PTMi

    Phosphoprotein

    Proteomic databases

    Encyclopedia of Proteome Dynamics

    More...
    EPDi
    O14936

    jPOST - Japan Proteome Standard Repository/Database

    More...
    jPOSTi
    O14936

    MaxQB - The MaxQuant DataBase

    More...
    MaxQBi
    O14936

    PaxDb, a database of protein abundance averages across all three domains of life

    More...
    PaxDbi
    O14936

    PeptideAtlas

    More...
    PeptideAtlasi
    O14936

    PRoteomics IDEntifications database

    More...
    PRIDEi
    O14936

    ProteomicsDB human proteome resource

    More...
    ProteomicsDBi
    48318
    48319 [O14936-2]
    48320 [O14936-3]
    48321 [O14936-4]
    48322 [O14936-5]
    48323 [O14936-6]

    Consortium for Top Down Proteomics

    More...
    TopDownProteomicsi
    O14936-5 [O14936-5]

    PTM databases

    iPTMnet integrated resource for PTMs in systems biology context

    More...
    iPTMneti
    O14936

    Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

    More...
    PhosphoSitePlusi
    O14936

    SwissPalm database of S-palmitoylation events

    More...
    SwissPalmi
    O14936

    <p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

    <p>This subsection of the ‘Expression’ section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified ‘at protein level’. <br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>Tissue specificityi

    Ubiquitous. Expression is significantly greater in brain relative to kidney, lung, and liver and in fetal brain and kidney relative to lung and liver.1 Publication

    Gene expression databases

    Bgee dataBase for Gene Expression Evolution

    More...
    Bgeei
    ENSG00000147044 Expressed in 231 organ(s), highest expression level in epithelium of mammary gland

    ExpressionAtlas, Differential and Baseline Expression

    More...
    ExpressionAtlasi
    O14936 baseline and differential

    Genevisible search portal to normalized and curated expression data from Genevestigator

    More...
    Genevisiblei
    O14936 HS

    Organism-specific databases

    Human Protein Atlas

    More...
    HPAi
    CAB001949
    HPA023857

    <p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

    <p>This subsection of the <a href="http://www.uniprot.org/help/interaction_section">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function_section">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

    Binds WHRN and NRXN1 cytosolic tail. Interacts with CASKIN1, APBA1, LIN7(A/B/C) and L27 domain of DLG1 and isoform 2 of DLG4 (By similarity). CASK and LIN7 form two mutually exclusive tripartite complexes with APBA1 or CASKIN1 (By similarity). Interacts with FCHSD2. Interacts with TSPYL2. Part of a complex containing CASK, TBR1 and TSPYL2 (By similarity). Identified in a complex with ACTN4, IQGAP1, MAGI2, NPHS1, SPTAN1 and SPTBN1 (By similarity). Interacts with KIRREL3.By similarity3 Publications

    <p>This subsection of the '<a href="http://www.uniprot.org/help/interaction_section%27">Interaction</a> section provides information about binary protein-protein interactions. The data presented in this section are a quality-filtered subset of binary interactions automatically derived from the <a href="http://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated on a monthly basis. Each binary interaction is displayed on a separate line.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

    GO - Molecular functioni

    Protein-protein interaction databases

    The Biological General Repository for Interaction Datasets (BioGrid)

    More...
    BioGridi
    114141, 102 interactors

    CORUM comprehensive resource of mammalian protein complexes

    More...
    CORUMi
    O14936

    Database of interacting proteins

    More...
    DIPi
    DIP-38727N

    The Eukaryotic Linear Motif resource for Functional Sites in Proteins

    More...
    ELMi
    O14936

    Protein interaction database and analysis system

    More...
    IntActi
    O14936, 55 interactors

    Molecular INTeraction database

    More...
    MINTi
    O14936

    STRING: functional protein association networks

    More...
    STRINGi
    9606.ENSP00000367408

    Chemistry databases

    BindingDB database of measured binding affinities

    More...
    BindingDBi
    O14936

    <p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

    Secondary structure

    1926
    Legend: HelixTurnBeta strandPDB Structure known for this area
    Show more details

    3D structure databases

    Select the link destinations:

    Protein Data Bank Europe

    More...
    PDBei

    Protein Data Bank RCSB

    More...
    RCSB PDBi

    Protein Data Bank Japan

    More...
    PDBji
    Links Updated
    PDB entryMethodResolution (Å)ChainPositionsPDBsum
    1KGDX-ray1.31A739-914[»]
    1KWAX-ray1.93A/B487-572[»]
    1ZL8NMR-B403-456[»]
    3C0GX-ray2.19A/B1-337[»]
    3C0HX-ray2.30A/B1-337[»]
    3C0IX-ray1.85A1-337[»]
    3MFRX-ray2.00A1-337[»]
    3MFSX-ray2.10A1-337[»]
    3MFTX-ray2.20A1-337[»]
    3MFUX-ray2.30A1-337[»]
    3TACX-ray2.20A1-345[»]

    Protein Model Portal of the PSI-Nature Structural Biology Knowledgebase

    More...
    ProteinModelPortali
    O14936

    SWISS-MODEL Repository - a database of annotated 3D protein structure models

    More...
    SMRi
    O14936

    Database of comparative protein structure models

    More...
    ModBasei
    Search...

    MobiDB: a database of protein disorder and mobility annotations

    More...
    MobiDBi
    Search...

    Miscellaneous databases

    Relative evolutionary importance of amino acids within a protein sequence

    More...
    EvolutionaryTracei
    O14936

    <p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

    Domains and Repeats

    Feature keyPosition(s)DescriptionActionsGraphical viewLength
    <p>This subsection of the <a href="http://www.uniprot.org/help/family_and_domains_section">Family and Domains</a> section describes the position and type of a domain, which is defined as a specific combination of secondary structures organized into a characteristic three-dimensional structure or fold.<p><a href='/help/domain' target='_top'>More...</a></p>Domaini12 – 276Protein kinasePROSITE-ProRule annotationAdd BLAST265
    Domaini343 – 398L27 1PROSITE-ProRule annotationAdd BLAST56
    Domaini402 – 455L27 2PROSITE-ProRule annotationAdd BLAST54
    Domaini489 – 564PDZPROSITE-ProRule annotationAdd BLAST76
    Domaini612 – 682SH3PROSITE-ProRule annotationAdd BLAST71
    Domaini739 – 911Guanylate kinase-likePROSITE-ProRule annotationAdd BLAST173

    Region

    Feature keyPosition(s)DescriptionActionsGraphical viewLength
    <p>This subsection of the ‘Family and Domains’ section describes a region of interest that cannot be described in other subsections.<p><a href='/help/region' target='_top'>More...</a></p>Regioni305 – 315Calmodulin-bindingAdd BLAST11

    <p>This subsection of the ‘Family and domains’ section provides general information on the biological role of a domain. The term ‘domain’ is intended here in its wide acceptation, it may be a structural domain, a transmembrane region or a functional domain. Several domains are described in this subsection.<p><a href='/help/domain_cc' target='_top'>More...</a></p>Domaini

    The first L27 domain binds DLG1 and the second L27 domain probably binds LIN7.By similarity
    The protein kinase domain mediates the interaction with FCHSD2.

    <p>This subsection of the ‘Family and domains’ section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

    In the N-terminal section; belongs to the protein kinase superfamily. CAMK Ser/Thr protein kinase family. CaMK subfamily.Curated
    Belongs to the MAGUK family.Curated

    Keywords - Domaini

    Repeat, SH3 domain

    Phylogenomic databases

    evolutionary genealogy of genes: Non-supervised Orthologous Groups

    More...
    eggNOGi
    KOG0033 Eukaryota
    KOG0609 Eukaryota
    COG0194 LUCA

    Ensembl GeneTree

    More...
    GeneTreei
    ENSGT00940000155600

    The HOVERGEN Database of Homologous Vertebrate Genes

    More...
    HOVERGENi
    HBG001858

    InParanoid: Eukaryotic Ortholog Groups

    More...
    InParanoidi
    O14936

    KEGG Orthology (KO)

    More...
    KOi
    K06103

    Identification of Orthologs from Complete Genome Data

    More...
    OMAi
    VCTASQW

    Database of Orthologous Groups

    More...
    OrthoDBi
    1318335at2759

    Database for complete collections of gene phylogenies

    More...
    PhylomeDBi
    O14936

    TreeFam database of animal gene trees

    More...
    TreeFami
    TF314263

    Family and domain databases

    Conserved Domains Database

    More...
    CDDi
    cd12081 SH3_CASK, 1 hit

    Integrated resource of protein families, domains and functional sites

    More...
    InterProi
    View protein in InterPro
    IPR035473 CASK_SH3
    IPR008145 GK/Ca_channel_bsu
    IPR008144 Guanylate_kin-like_dom
    IPR020590 Guanylate_kinase_CS
    IPR011009 Kinase-like_dom_sf
    IPR014775 L27_C
    IPR004172 L27_dom
    IPR036892 L27_dom_sf
    IPR027417 P-loop_NTPase
    IPR001478 PDZ
    IPR036034 PDZ_sf
    IPR000719 Prot_kinase_dom
    IPR036028 SH3-like_dom_sf
    IPR001452 SH3_domain

    Pfam protein domain database

    More...
    Pfami
    View protein in Pfam
    PF00625 Guanylate_kin, 1 hit
    PF02828 L27, 2 hits
    PF00595 PDZ, 1 hit
    PF00069 Pkinase, 1 hit
    PF07653 SH3_2, 1 hit

    Simple Modular Architecture Research Tool; a protein domain database

    More...
    SMARTi
    View protein in SMART
    SM00072 GuKc, 1 hit
    SM00569 L27, 2 hits
    SM00228 PDZ, 1 hit
    SM00326 SH3, 1 hit

    Superfamily database of structural and functional annotation

    More...
    SUPFAMi
    SSF101288 SSF101288, 2 hits
    SSF50044 SSF50044, 1 hit
    SSF50156 SSF50156, 1 hit
    SSF52540 SSF52540, 1 hit
    SSF56112 SSF56112, 1 hit

    PROSITE; a protein domain and family database

    More...
    PROSITEi
    View protein in PROSITE
    PS00856 GUANYLATE_KINASE_1, 1 hit
    PS50052 GUANYLATE_KINASE_2, 1 hit
    PS51022 L27, 2 hits
    PS50106 PDZ, 1 hit
    PS50011 PROTEIN_KINASE_DOM, 1 hit
    PS50002 SH3, 1 hit

    <p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>.<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (6+)i

    <p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

    This entry describes 6 <p>This subsection of the ‘Sequence’ section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket

    This entry has 6 described isoforms and 17 potential isoforms that are computationally mapped.Show allAlign All

    Isoform 1 (identifier: O14936-1) [UniParc]FASTAAdd to basket

    This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

    « Hide
            10         20         30         40         50
    MADDDVLFED VYELCEVIGK GPFSVVRRCI NRETGQQFAV KIVDVAKFTS
    60 70 80 90 100
    SPGLSTEDLK REASICHMLK HPHIVELLET YSSDGMLYMV FEFMDGADLC
    110 120 130 140 150
    FEIVKRADAG FVYSEAVASH YMRQILEALR YCHDNNIIHR DVKPHCVLLA
    160 170 180 190 200
    SKENSAPVKL GGFGVAIQLG ESGLVAGGRV GTPHFMAPEV VKREPYGKPV
    210 220 230 240 250
    DVWGCGVILF ILLSGCLPFY GTKERLFEGI IKGKYKMNPR QWSHISESAK
    260 270 280 290 300
    DLVRRMLMLD PAERITVYEA LNHPWLKERD RYAYKIHLPE TVEQLRKFNA
    310 320 330 340 350
    RRKLKGAVLA AVSSHKFNSF YGDPPEELPD FSEDPTSSGL LAAERAVSQV
    360 370 380 390 400
    LDSLEEIHAL TDCSEKDLDF LHSVFQDQHL HTLLDLYDKI NTKSSPQIRN
    410 420 430 440 450
    PPSDAVQRAK EVLEEISCYP ENNDAKELKR ILTQPHFMAL LQTHDVVAHE
    460 470 480 490 500
    VYSDEALRVT PPPTSPYLNG DSPESANGDM DMENVTRVRL VQFQKNTDEP
    510 520 530 540 550
    MGITLKMNEL NHCIVARIMH GGMIHRQGTL HVGDEIREIN GISVANQTVE
    560 570 580 590 600
    QLQKMLREMR GSITFKIVPS YRTQSSSCER DSPSTSRQSP ANGHSSTNNS
    610 620 630 640 650
    VSDLPSTTQP KGRQIYVRAQ FEYDPAKDDL IPCKEAGIRF RVGDIIQIIS
    660 670 680 690 700
    KDDHNWWQGK LENSKNGTAG LIPSPELQEW RVACIAMEKT KQEQQASCTW
    710 720 730 740 750
    FGKKKKQYKD KYLAKHNAVF DQLDLVTYEE VVKLPAFKRK TLVLLGAHGV
    760 770 780 790 800
    GRRHIKNTLI TKHPDRFAYP IPHTTRPPKK DEENGKNYYF VSHDQMMQDI
    810 820 830 840 850
    SNNEYLEYGS HEDAMYGTKL ETIRKIHEQG LIAILDVEPQ ALKVLRTAEF
    860 870 880 890 900
    APFVVFIAAP TITPGLNEDE SLQRLQKESD ILQRTYAHYF DLTIINNEID
    910 920
    ETIRHLEEAV ELVCTAPQWV PVSWVY
    Length:926
    Mass (Da):105,123
    Last modified:April 17, 2007 - v3
    <p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> Checksum:i6C02008CE52728BA
    GO
    Isoform 2 (identifier: O14936-2) [UniParc]FASTAAdd to basket

    The sequence of this isoform differs from the canonical sequence as follows:
         719-723: Missing.

    Show »
    Length:921
    Mass (Da):104,520
    Checksum:iC3C9FAE8D051AA27
    GO
    Isoform 3 (identifier: O14936-3) [UniParc]FASTAAdd to basket

    The sequence of this isoform differs from the canonical sequence as follows:
         340-345: Missing.
         580-602: Missing.

    Show »
    Length:897
    Mass (Da):102,114
    Checksum:i8B3BC03D2EF717CA
    GO
    Isoform 4 (identifier: O14936-4) [UniParc]FASTAAdd to basket

    The sequence of this isoform differs from the canonical sequence as follows:
         580-602: Missing.
         719-723: Missing.

    Show »
    Length:898
    Mass (Da):102,165
    Checksum:iB7BC96EB46CCD791
    GO
    Isoform 5 (identifier: O14936-5) [UniParc]FASTAAdd to basket

    The sequence of this isoform differs from the canonical sequence as follows:
         1-385: Missing.
         386-386: L → M
         580-602: Missing.

    Show »
    Length:518
    Mass (Da):59,383
    Checksum:i855EE0A1FC92D5B0
    GO
    Isoform 6 (identifier: O14936-6) [UniParc]FASTAAdd to basket

    The sequence of this isoform differs from the canonical sequence as follows:
         603-614: Missing.
         719-723: Missing.

    Note: Gene prediction confirmed by EST data.
    Show »
    Length:909
    Mass (Da):103,211
    Checksum:iB0B98E6A73E36142
    GO

    <p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

    There are 17 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
    EntryEntry nameProtein names
    Gene namesLengthAnnotation
    A0A2R8Y3B3A0A2R8Y3B3_HUMAN
    Peripheral plasma membrane protein ...
    CASK
    555Annotation score:

    Annotation score:1 out of 5

    <p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
    A0A2R8YE77A0A2R8YE77_HUMAN
    Calcium/calmodulin-dependent serine...
    CASK hCG_1987160
    920Annotation score:

    Annotation score:1 out of 5

    <p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
    A0A2R8Y6F8A0A2R8Y6F8_HUMAN
    Peripheral plasma membrane protein ...
    CASK
    903Annotation score:

    Annotation score:1 out of 5

    <p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
    A0A2U3TZM4A0A2U3TZM4_HUMAN
    Peripheral plasma membrane protein ...
    CASK
    892Annotation score:

    Annotation score:1 out of 5

    <p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
    A0A2R8YFN5A0A2R8YFN5_HUMAN
    Peripheral plasma membrane protein ...
    CASK
    904Annotation score:

    Annotation score:1 out of 5

    <p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
    A0A2R8YEK3A0A2R8YEK3_HUMAN
    Peripheral plasma membrane protein ...
    CASK
    927Annotation score:

    Annotation score:1 out of 5

    <p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
    A0A2U3TZM1A0A2U3TZM1_HUMAN
    Peripheral plasma membrane protein ...
    CASK
    908Annotation score:

    Annotation score:1 out of 5

    <p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
    A0A2U3TZN6A0A2U3TZN6_HUMAN
    Peripheral plasma membrane protein ...
    CASK
    880Annotation score:

    Annotation score:1 out of 5

    <p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
    A0A2R8YEJ7A0A2R8YEJ7_HUMAN
    Peripheral plasma membrane protein ...
    CASK
    173Annotation score:

    Annotation score:1 out of 5

    <p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
    A0A2R8Y6D8A0A2R8Y6D8_HUMAN
    Peripheral plasma membrane protein ...
    CASK
    109Annotation score:

    Annotation score:1 out of 5

    <p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
    There are more potential isoformsShow all

    Experimental Info

    Feature keyPosition(s)DescriptionActionsGraphical viewLength
    <p>This subsection of the ‘Sequence’ section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>Sequence conflicti401P → L in AAB88198 (Ref. 2) Curated1
    Sequence conflicti479D → G in AAB88125 (PubMed:9660868).Curated1
    Sequence conflicti479D → G in BAB12252 (Ref. 3) Curated1
    Sequence conflicti479D → G in AAU10527 (Ref. 4) Curated1
    Sequence conflicti479D → G in AAF72666 (PubMed:11003712).Curated1
    Sequence conflicti479D → G in AAF72667 (PubMed:11003712).Curated1
    Sequence conflicti675P → S in AAB88125 (PubMed:9660868).Curated1
    Sequence conflicti675P → S in AAU10527 (Ref. 4) Curated1
    Sequence conflicti780K → R in AAB88125 (PubMed:9660868).Curated1
    Sequence conflicti780K → R in AAU10527 (Ref. 4) Curated1

    Natural variant

    Feature keyPosition(s)DescriptionActionsGraphical viewLength
    Natural variantiVAR_07871019 – 926Missing Probable disease-associated mutation found in a patient with epilepsy and pontocerebellar hypoplasia. 1 PublicationAdd BLAST908
    Natural variantiVAR_05871928R → L in FGS4; does not reveal significant alterations induced by the mutation substitution; causes a partial skipping of exon 2 of the protein. 1 PublicationCorresponds to variant dbSNP:rs137852816EnsemblClinVar.1
    Natural variantiVAR_04195696G → V in a lung large cell carcinoma sample; somatic mutation. 1 Publication1
    Natural variantiVAR_062996268Y → H in MICPCH. 1 PublicationCorresponds to variant dbSNP:rs137852817EnsemblClinVar.1
    Natural variantiVAR_062997396P → S in MICPCH. 1 PublicationCorresponds to variant dbSNP:rs137852820EnsemblClinVar.1
    Natural variantiVAR_062998710D → G in MICPCH. 1 PublicationCorresponds to variant dbSNP:rs137852818EnsemblClinVar.1

    Alternative sequence

    Feature keyPosition(s)DescriptionActionsGraphical viewLength
    <p>This subsection of the ‘Sequence’ section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_0244211 – 385Missing in isoform 5. 1 PublicationAdd BLAST385
    Alternative sequenceiVSP_024422340 – 345Missing in isoform 3. 2 Publications6
    Alternative sequenceiVSP_024423386L → M in isoform 5. 1 Publication1
    Alternative sequenceiVSP_024424580 – 602Missing in isoform 3, isoform 4 and isoform 5. 4 PublicationsAdd BLAST23
    Alternative sequenceiVSP_024425603 – 614Missing in isoform 6. CuratedAdd BLAST12
    Alternative sequenceiVSP_024426719 – 723Missing in isoform 2, isoform 4 and isoform 6. 4 Publications5

    Sequence databases

    Select the link destinations:

    EMBL nucleotide sequence database

    More...
    EMBLi

    GenBank nucleotide sequence database

    More...
    GenBanki

    DNA Data Bank of Japan; a nucleotide sequence database

    More...
    DDBJi
    Links Updated
    AF032119 mRNA Translation: AAB88125.1
    AF035582 mRNA Translation: AAB88198.1
    AB039327 mRNA Translation: BAB12252.2
    AY705392 mRNA Translation: AAU10527.1
    AL158144 Genomic DNA No translation available.
    AL353691 Genomic DNA No translation available.
    AL445239 Genomic DNA No translation available.
    AL603754 Genomic DNA No translation available.
    AL627402 Genomic DNA No translation available.
    BC117311 mRNA Translation: AAI17312.1
    BC143454 mRNA Translation: AAI43455.1
    AB208859 mRNA Translation: BAD92096.1
    AF262404 mRNA Translation: AAF72666.1
    AF262405 mRNA Translation: AAF72667.1

    The Consensus CDS (CCDS) project

    More...
    CCDSi
    CCDS14257.1 [O14936-2]
    CCDS48094.1 [O14936-3]
    CCDS48095.1 [O14936-4]

    NCBI Reference Sequences

    More...
    RefSeqi
    NP_001119526.1, NM_001126054.2 [O14936-4]
    NP_001119527.1, NM_001126055.2 [O14936-3]
    NP_003679.2, NM_003688.3 [O14936-2]

    UniGene gene-oriented nucleotide sequence clusters

    More...
    UniGenei
    Hs.495984

    Genome annotation databases

    Ensembl eukaryotic genome annotation project

    More...
    Ensembli
    ENST00000378154; ENSP00000367396; ENSG00000147044 [O14936-6]
    ENST00000378163; ENSP00000367405; ENSG00000147044 [O14936-1]
    ENST00000421587; ENSP00000400526; ENSG00000147044 [O14936-4]
    ENST00000644347; ENSP00000494183; ENSG00000147044 [O14936-3]
    ENST00000645566; ENSP00000494788; ENSG00000147044 [O14936-2]

    Database of genes from NCBI RefSeq genomes

    More...
    GeneIDi
    8573

    KEGG: Kyoto Encyclopedia of Genes and Genomes

    More...
    KEGGi
    hsa:8573

    UCSC genome browser

    More...
    UCSCi
    uc004dfl.5 human [O14936-1]

    Keywords - Coding sequence diversityi

    Alternative splicing, Polymorphism

    <p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

    <p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBLi
    GenBanki
    DDBJi
    Links Updated
    AF032119 mRNA Translation: AAB88125.1
    AF035582 mRNA Translation: AAB88198.1
    AB039327 mRNA Translation: BAB12252.2
    AY705392 mRNA Translation: AAU10527.1
    AL158144 Genomic DNA No translation available.
    AL353691 Genomic DNA No translation available.
    AL445239 Genomic DNA No translation available.
    AL603754 Genomic DNA No translation available.
    AL627402 Genomic DNA No translation available.
    BC117311 mRNA Translation: AAI17312.1
    BC143454 mRNA Translation: AAI43455.1
    AB208859 mRNA Translation: BAD92096.1
    AF262404 mRNA Translation: AAF72666.1
    AF262405 mRNA Translation: AAF72667.1
    CCDSiCCDS14257.1 [O14936-2]
    CCDS48094.1 [O14936-3]
    CCDS48095.1 [O14936-4]
    RefSeqiNP_001119526.1, NM_001126054.2 [O14936-4]
    NP_001119527.1, NM_001126055.2 [O14936-3]
    NP_003679.2, NM_003688.3 [O14936-2]
    UniGeneiHs.495984

    3D structure databases

    Select the link destinations:
    PDBei
    RCSB PDBi
    PDBji
    Links Updated
    PDB entryMethodResolution (Å)ChainPositionsPDBsum
    1KGDX-ray1.31A739-914[»]
    1KWAX-ray1.93A/B487-572[»]
    1ZL8NMR-B403-456[»]
    3C0GX-ray2.19A/B1-337[»]
    3C0HX-ray2.30A/B1-337[»]
    3C0IX-ray1.85A1-337[»]
    3MFRX-ray2.00A1-337[»]
    3MFSX-ray2.10A1-337[»]
    3MFTX-ray2.20A1-337[»]
    3MFUX-ray2.30A1-337[»]
    3TACX-ray2.20A1-345[»]
    ProteinModelPortaliO14936
    SMRiO14936
    ModBaseiSearch...
    MobiDBiSearch...

    Protein-protein interaction databases

    BioGridi114141, 102 interactors
    CORUMiO14936
    DIPiDIP-38727N
    ELMiO14936
    IntActiO14936, 55 interactors
    MINTiO14936
    STRINGi9606.ENSP00000367408

    Chemistry databases

    BindingDBiO14936
    ChEMBLiCHEMBL1908381
    DrugBankiDB01942 Formic Acid

    PTM databases

    iPTMnetiO14936
    PhosphoSitePlusiO14936
    SwissPalmiO14936

    Polymorphism and mutation databases

    BioMutaiCASK

    Proteomic databases

    EPDiO14936
    jPOSTiO14936
    MaxQBiO14936
    PaxDbiO14936
    PeptideAtlasiO14936
    PRIDEiO14936
    ProteomicsDBi48318
    48319 [O14936-2]
    48320 [O14936-3]
    48321 [O14936-4]
    48322 [O14936-5]
    48323 [O14936-6]
    TopDownProteomicsiO14936-5 [O14936-5]

    Protocols and materials databases

    The DNASU plasmid repository

    More...
    DNASUi
    8573
    Structural Biology KnowledgebaseSearch...

    Genome annotation databases

    EnsembliENST00000378154; ENSP00000367396; ENSG00000147044 [O14936-6]
    ENST00000378163; ENSP00000367405; ENSG00000147044 [O14936-1]
    ENST00000421587; ENSP00000400526; ENSG00000147044 [O14936-4]
    ENST00000644347; ENSP00000494183; ENSG00000147044 [O14936-3]
    ENST00000645566; ENSP00000494788; ENSG00000147044 [O14936-2]
    GeneIDi8573
    KEGGihsa:8573
    UCSCiuc004dfl.5 human [O14936-1]

    Organism-specific databases

    Comparative Toxicogenomics Database

    More...
    CTDi
    8573
    DisGeNETi8573
    EuPathDBiHostDB:ENSG00000147044.20

    GeneCards: human genes, protein and diseases

    More...
    GeneCardsi
    CASK
    GeneReviewsiCASK
    HGNCiHGNC:1497 CASK
    HPAiCAB001949
    HPA023857
    MalaCardsiCASK
    MIMi300172 gene
    300422 phenotype
    300749 phenotype
    neXtProtiNX_O14936
    OpenTargetsiENSG00000147044
    Orphaneti1934 Early infantile epileptic encephalopathy
    323 NON RARE IN EUROPE: FG syndrome phenotypic spectrum
    163937 X-linked intellectual disability, Najm type
    PharmGKBiPA26081

    GenAtlas: human gene database

    More...
    GenAtlasi
    Search...

    Phylogenomic databases

    eggNOGiKOG0033 Eukaryota
    KOG0609 Eukaryota
    COG0194 LUCA
    GeneTreeiENSGT00940000155600
    HOVERGENiHBG001858
    InParanoidiO14936
    KOiK06103
    OMAiVCTASQW
    OrthoDBi1318335at2759
    PhylomeDBiO14936
    TreeFamiTF314263

    Enzyme and pathway databases

    BRENDAi2.7.11.1 2681
    2.7.4.8 2681
    ReactomeiR-HSA-212676 Dopamine Neurotransmitter Release Cycle
    R-HSA-3000170 Syndecan interactions
    R-HSA-373753 Nephrin family interactions
    R-HSA-6794361 Neurexins and neuroligins
    SABIO-RKiO14936
    SignaLinkiO14936
    SIGNORiO14936

    Miscellaneous databases

    ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

    More...
    ChiTaRSi
    CASK human
    EvolutionaryTraceiO14936

    The Gene Wiki collection of pages on human genes and proteins

    More...
    GeneWikii
    CASK

    Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

    More...
    GenomeRNAii
    8573

    Protein Ontology

    More...
    PROi
    PR:O14936

    The Stanford Online Universal Resource for Clones and ESTs

    More...
    SOURCEi
    Search...

    Gene expression databases

    BgeeiENSG00000147044 Expressed in 231 organ(s), highest expression level in epithelium of mammary gland
    ExpressionAtlasiO14936 baseline and differential
    GenevisibleiO14936 HS

    Family and domain databases

    CDDicd12081 SH3_CASK, 1 hit
    InterProiView protein in InterPro
    IPR035473 CASK_SH3
    IPR008145 GK/Ca_channel_bsu
    IPR008144 Guanylate_kin-like_dom
    IPR020590 Guanylate_kinase_CS
    IPR011009 Kinase-like_dom_sf
    IPR014775 L27_C
    IPR004172 L27_dom
    IPR036892 L27_dom_sf
    IPR027417 P-loop_NTPase
    IPR001478 PDZ
    IPR036034 PDZ_sf
    IPR000719 Prot_kinase_dom
    IPR036028 SH3-like_dom_sf
    IPR001452 SH3_domain
    PfamiView protein in Pfam
    PF00625 Guanylate_kin, 1 hit
    PF02828 L27, 2 hits
    PF00595 PDZ, 1 hit
    PF00069 Pkinase, 1 hit
    PF07653 SH3_2, 1 hit
    SMARTiView protein in SMART
    SM00072 GuKc, 1 hit
    SM00569 L27, 2 hits
    SM00228 PDZ, 1 hit
    SM00326 SH3, 1 hit
    SUPFAMiSSF101288 SSF101288, 2 hits
    SSF50044 SSF50044, 1 hit
    SSF50156 SSF50156, 1 hit
    SSF52540 SSF52540, 1 hit
    SSF56112 SSF56112, 1 hit
    PROSITEiView protein in PROSITE
    PS00856 GUANYLATE_KINASE_1, 1 hit
    PS50052 GUANYLATE_KINASE_2, 1 hit
    PS51022 L27, 2 hits
    PS50106 PDZ, 1 hit
    PS50011 PROTEIN_KINASE_DOM, 1 hit
    PS50002 SH3, 1 hit

    ProtoNet; Automatic hierarchical classification of proteins

    More...
    ProtoNeti
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    <p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

    <p>This subsection of the ‘Entry information’ section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiCSKP_HUMAN
    <p>This subsection of the ‘Entry information’ section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called ‘Primary (citable) accession number’.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: O14936
    Secondary accession number(s): A6NES1
    , B7ZKY0, O43215, Q17RI4, Q59HA0, Q5VT16, Q5VT17, Q5VT18, Q5VT19, Q66T42, Q9BYH6, Q9NYB2, Q9NYB3
    <p>This subsection of the ‘Entry information’ section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification (‘Last modified’). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: July 15, 1999
    Last sequence update: April 17, 2007
    Last modified: February 13, 2019
    This is version 211 of the entry and version 3 of the sequence. See complete history.
    <p>This subsection of the ‘Entry information’ section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>Entry statusiReviewed (UniProtKB/Swiss-Prot)
    Annotation programChordata Protein Annotation Program
    DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

    <p>This section contains any relevant information that doesn’t fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

    Keywords - Technical termi

    3D-structure, Complete proteome, Reference proteome

    Documents

    1. Human and mouse protein kinases
      Human and mouse protein kinases: classification and index
    2. SIMILARITY comments
      Index of protein domains and families
    3. Human chromosome X
      Human chromosome X: entries, gene names and cross-references to MIM
    4. Human polymorphisms and disease mutations
      Index of human polymorphisms and disease mutations
    5. MIM cross-references
      Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
    6. PDB cross-references
      Index of Protein Data Bank (PDB) cross-references
    7. Human entries with polymorphisms or disease mutations
      List of human entries with polymorphisms or disease mutations
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