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    CAST calpastatin [ Homo sapiens (human) ]

    Gene ID: 831, updated on 12-Oct-2019

    Summary

    Official Symbol
    CASTprovided by HGNC
    Official Full Name
    calpastatinprovided by HGNC
    Primary source
    HGNC:HGNC:1515
    See related
    Ensembl:ENSG00000153113 MIM:114090
    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
    BS-17; PLACK
    Summary
    The protein encoded by this gene is an endogenous calpain (calcium-dependent cysteine protease) inhibitor. It consists of an N-terminal domain L and four repetitive calpain-inhibition domains (domains 1-4), and it is involved in the proteolysis of amyloid precursor protein. The calpain/calpastatin system is involved in numerous membrane fusion events, such as neural vesicle exocytosis and platelet and red-cell aggregation. The encoded protein is also thought to affect the expression levels of genes encoding structural or regulatory proteins. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jun 2010]
    Expression
    Ubiquitous expression in esophagus (RPKM 82.1), heart (RPKM 55.7) and 24 other tissues See more
    Orthologs

    Genomic context

    See CAST in Genome Data Viewer
    Location:
    5q15
    Exon count:
    36
    Annotation release Status Assembly Chr Location
    109.20190905 current GRCh38.p13 (GCF_000001405.39) 5 NC_000005.10 (96662037..96774683)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (95997741..96110387)

    Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC101929710 Neighboring gene NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 5 pseudogene Neighboring gene Sharpr-MPRA regulatory region 11450 Neighboring gene uncharacterized LOC107986362 Neighboring gene uncharacterized LOC107986364 Neighboring gene uncharacterized LOC107986363 Neighboring gene uncharacterized LOC105379094 Neighboring gene uncharacterized LOC102724748 Neighboring gene endoplasmic reticulum aminopeptidase 1 Neighboring gene endoplasmic reticulum aminopeptidase 2

    Genomic regions, transcripts, and products

    Expression

    • Project title: 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    Associated conditions

    Description Tests
    Peeling skin with leukonychia, acral punctate keratoses, cheilitis, and knuckle pads
    MedGen: C4225381 OMIM: 616295 GeneReviews: Not available
    Compare labs

    NHGRI GWAS Catalog

    Description
    A genome-wide association study identifies new psoriasis susceptibility loci and an interaction between HLA-C and ERAP1.
    NHGRI GWA Catalog
    Genome-wide association study of alcohol dependence.
    NHGRI GWA Catalog
    Genome-wide association study of classical Hodgkin lymphoma and Epstein-Barr virus status-defined subgroups.
    NHGRI GWA Catalog

    Pathways from BioSystems

    • Degradation of the extracellular matrix, organism-specific biosystem (from REACTOME)
      Degradation of the extracellular matrix, organism-specific biosystemMatrix metalloproteinases (MMPs), previously referred to as matrixins because of their role in degradation of the extracellular matrix (ECM), are zinc and calcium dependent proteases belonging to the...
    • Deregulated CDK5 triggers multiple neurodegenerative pathways in Alzheimer's disease models, organism-specific biosystem (from REACTOME)
      Deregulated CDK5 triggers multiple neurodegenerative pathways in Alzheimer's disease models, organism-specific biosystemPost-mitotic neurons do not have an active cell cycle. However, deregulation of Cyclin Dependent Kinase-5 (CDK5) activity in these neurons can aberrantly activate various components of cell cycle lea...
    • Disease, organism-specific biosystem (from REACTOME)
      Disease, organism-specific biosystemBiological processes are captured in Reactome by identifying the molecules (DNA, RNA, protein, small molecules) involved in them and describing the details of their interactions. From this molecular ...
    • Extracellular matrix organization, organism-specific biosystem (from REACTOME)
      Extracellular matrix organization, organism-specific biosystemThe extracellular matrix is a component of all mammalian tissues, a network consisting largely of the fibrous proteins collagen, elastin and associated-microfibrils, fibronectin and laminins embedded...
    • Neurodegenerative Diseases, organism-specific biosystem (from REACTOME)
      Neurodegenerative Diseases, organism-specific biosystemNeurodegenerative diseases manifest as the progressive dysfunction and loss of neurons, which is frequently accompanied by formation of misfolded protein deposits in the brain. Classification of neur...

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Clone Names

    • MGC9402

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    RNA binding HDA PubMed 
    cadherin binding HDA PubMed 
    calcium-dependent cysteine-type endopeptidase inhibitor activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    calcium-dependent cysteine-type endopeptidase inhibitor activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    endopeptidase inhibitor activity TAS
    Traceable Author Statement
    more info
    PubMed 
    protease binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Component Evidence Code Pubs
    cytosol IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cytosol TAS
    Traceable Author Statement
    more info
     
    endoplasmic reticulum IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    endoplasmic reticulum IDA
    Inferred from Direct Assay
    more info
     
    membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 

    General protein information

    Preferred Names
    calpastatin
    Names
    calpain inhibitor
    sperm BS-17 component

    NCBI Reference Sequences (RefSeq)

    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_029490.2 RefSeqGene

      Range
      5001..117647
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001042440.5NP_001035905.1  calpastatin isoform f

      See identical proteins and their annotated locations for NP_001035905.1

      Status: REVIEWED

      Source sequence(s)
      AC008906, AC020900, KC877037
      Consensus CDS
      CCDS54882.1
      UniProtKB/Swiss-Prot
      P20810
      Related
      ENSP00000379157.2, ENST00000395812.6
      Conserved Domains (1) summary
      pfam00748
      Location:412542
      Calpain_inhib; Calpain inhibitor
    2. NM_001042441.3NP_001035906.1  calpastatin isoform g

      Status: REVIEWED

      Source sequence(s)
      AC008906, AC020900, KC877037
      UniProtKB/Swiss-Prot
      P20810
      Conserved Domains (1) summary
      pfam00748
      Location:434564
      Calpain_inhib; Calpain inhibitor
    3. NM_001042442.2NP_001035907.1  calpastatin isoform h

      Status: REVIEWED

      Source sequence(s)
      AC008906, AC020900, KC877037
      Consensus CDS
      CCDS43344.1
      UniProtKB/Swiss-Prot
      P20810
      Related
      ENSP00000422176.1, ENST00000510756.5
      Conserved Domains (1) summary
      pfam00748
      Location:431561
      Calpain_inhib; Calpain inhibitor
    4. NM_001042443.2NP_001035908.1  calpastatin isoform i

      Status: REVIEWED

      Source sequence(s)
      AC008906, AC020900, KC877037
      UniProtKB/Swiss-Prot
      P20810
      Related
      ENSP00000379158.2, ENST00000395813.5
      Conserved Domains (1) summary
      pfam00748
      Location:370500
      Calpain_inhib; Calpain inhibitor
    5. NM_001042444.2NP_001035909.1  calpastatin isoform j

      Status: REVIEWED

      Source sequence(s)
      AC008906, AC020900, KC877037
      UniProtKB/Swiss-Prot
      P20810
      Conserved Domains (1) summary
      pfam00748
      Location:329459
      Calpain_inhib; Calpain inhibitor
    6. NM_001042445.2NP_001035910.1  calpastatin isoform k

      Status: REVIEWED

      Source sequence(s)
      AC008906, AC020900, KC877037
      Consensus CDS
      CCDS83017.1
      UniProtKB/TrEMBL
      E9PCH5
      Related
      ENSP00000426946.1, ENST00000509903.5
      Conserved Domains (1) summary
      pfam00748
      Location:335465
      Calpain_inhib; Calpain inhibitor
    7. NM_001042446.2NP_001035911.1  calpastatin isoform l

      Status: REVIEWED

      Source sequence(s)
      AC008906, AC020900, KC877037
      Conserved Domains (1) summary
      pfam00748
      Location:316446
      Calpain_inhib; Calpain inhibitor
    8. NM_001190442.1NP_001177371.1  calpastatin isoform m

      See identical proteins and their annotated locations for NP_001177371.1

      Status: REVIEWED

      Source sequence(s)
      AB208816, AC008906, AC020900, AL832349, AY189741, DB450697
      Consensus CDS
      CCDS54883.1
      UniProtKB/TrEMBL
      Q59HE3, Q86YM9
      Related
      ENSP00000343421.3, ENST00000338252.7
      Conserved Domains (1) summary
      pfam00748
      Location:357487
      Calpain_inhib; Calpain inhibitor
    9. NM_001284212.3NP_001271141.1  calpastatin isoform n

      Status: REVIEWED

      Source sequence(s)
      AC008906, AC020900, BX648397, U31345
      UniProtKB/Swiss-Prot
      P20810
      Conserved Domains (1) summary
      pfam00748
      Location:329459
      Calpain_inhib; Calpain inhibitor
    10. NM_001284213.3NP_001271142.1  calpastatin isoform o

      Status: REVIEWED

      Source sequence(s)
      AC020900, AK300624, BM676369, BQ940454, CA775469, KC877037
      Consensus CDS
      CCDS75279.1
      UniProtKB/TrEMBL
      B7Z6N0, E9PDE4
      Related
      ENSP00000425670.1, ENST00000504465.5
      Conserved Domains (1) summary
      pfam00748
      Location:298428
      Calpain_inhib; Calpain inhibitor
    11. NM_001330626.2NP_001317555.1  calpastatin isoform p

      Status: REVIEWED

      Source sequence(s)
      AC008906, AC020900, KC877037
    12. NM_001330627.2NP_001317556.1  calpastatin isoform q

      Status: REVIEWED

      Source sequence(s)
      AC008906, AC020900, KC877037
      Conserved Domains (1) summary
      pfam00748
      Location:412542
      Calpain_inhib; Calpain inhibitor
    13. NM_001330628.2NP_001317557.1  calpastatin isoform r

      Status: REVIEWED

      Source sequence(s)
      AC008906, AC020900, KC877037
      Related
      ENSP00000422677.1, ENST00000508608.5
      Conserved Domains (1) summary
      pfam00748
      Location:397527
      Calpain_inhib; Calpain inhibitor
    14. NM_001330629.2NP_001317558.1  calpastatin isoform s

      Status: REVIEWED

      Source sequence(s)
      AC008906, AC020900, KC877037
    15. NM_001330630.1NP_001317559.1  calpastatin isoform t

      Status: REVIEWED

      Source sequence(s)
      AC008906, AC020900, KC877037
    16. NM_001330631.1NP_001317560.1  calpastatin isoform m

      Status: REVIEWED

      Source sequence(s)
      AC008906, AC020900, KC877037
      Consensus CDS
      CCDS54883.1
      UniProtKB/Swiss-Prot
      P20810
    17. NM_001330632.1NP_001317561.1  calpastatin isoform u

      Status: REVIEWED

      Source sequence(s)
      AC008906, AC020900, KC877037
    18. NM_001330633.1NP_001317562.1  calpastatin isoform v

      Status: REVIEWED

      Source sequence(s)
      AC008906, AC020900, KC877037
      Conserved Domains (1) summary
      pfam00748
      Location:351481
      Calpain_inhib; Calpain inhibitor
    19. NM_001330634.1NP_001317563.1  calpastatin isoform w

      Status: REVIEWED

      Source sequence(s)
      AC008906, AC020900, KC877037
    20. NM_001750.7NP_001741.4  calpastatin isoform a

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (a).
      Source sequence(s)
      AC008906, AC020900, KC877037
      UniProtKB/Swiss-Prot
      P20810
      Related
      ENSP00000425721.1, ENST00000508830.5
      Conserved Domains (1) summary
      pfam00748
      Location:453583
      Calpain_inhib; Calpain inhibitor
    21. NM_173060.4NP_775083.1  calpastatin isoform b

      See identical proteins and their annotated locations for NP_775083.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) represents use of an alternate promoter compared to variant 1.
      Source sequence(s)
      AC008906, AC020900, AL832174, AL832349, AY189741
      Consensus CDS
      CCDS4082.1
      UniProtKB/Swiss-Prot
      P20810
      UniProtKB/TrEMBL
      Q86YM9
      Related
      ENSP00000312523.5, ENST00000309190.9
      Conserved Domains (1) summary
      pfam00748
      Location:348478
      Calpain_inhib; Calpain inhibitor

    RNA

    1. NR_104285.2 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (15) has multiple differences compared to variant 6. This variant is represented as non-coding because the use of the 5'-most expected translational start codon renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AL045308, DB033043, U58996
      Related
      ENST00000484552.5

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109.20190905

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

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000005.10 Reference GRCh38.p13 Primary Assembly

      Range
      96662037..96774683
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_173061.2: Suppressed sequence

      Description
      NM_173061.2: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript.
    2. NM_173062.1: Suppressed sequence

      Description
      NM_173062.1: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript and the protein.
    3. NM_173063.1: Suppressed sequence

      Description
      NM_173063.1: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript.
    4. NR_033798.1: Suppressed sequence

      Description
      NR_033798.1: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript.
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