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    CAST calpastatin [ Homo sapiens (human) ]

    Gene ID: 831, updated on 7-Apr-2024

    Summary

    Official Symbol
    CASTprovided by HGNC
    Official Full Name
    calpastatinprovided by HGNC
    Primary source
    HGNC:HGNC:1515
    See related
    Ensembl:ENSG00000153113 MIM:114090; AllianceGenome:HGNC:1515
    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; MIR583HG
    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
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See CAST in Genome Data Viewer
    Location:
    5q15
    Exon count:
    49
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 5 NC_000005.10 (95961429..96774683)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 5 NC_060929.1 (96462750..97275514)
    105.20220307 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 LOC124901029 Neighboring gene uncharacterized LOC105379091 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr5:95197672-95198871 Neighboring gene NANOG hESC enhancer GRCh37_chr5:95199127-95199628 Neighboring gene long intergenic non-protein coding RNA 1554 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22813 Neighboring gene Sharpr-MPRA regulatory region 10583 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16188 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16189 Neighboring gene H3K27ac hESC enhancer GRCh37_chr5:95297407-95298164 Neighboring gene uncharacterized LOC101929710 Neighboring gene Sharpr-MPRA regulatory region 2569 Neighboring gene uncharacterized LOC105379096 Neighboring gene elongation factor for RNA polymerase II 2 Neighboring gene fatty acid binding protein 5 pseudogene 5 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr5:95401160-95402062 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr5:95418944-95419732 Neighboring gene NANOG hESC enhancer GRCh37_chr5:95425828-95426329 Neighboring gene uncharacterized LOC105379675 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr5:95503719-95504264 Neighboring gene microRNA 583 Neighboring gene uncharacterized LOC124901032 Neighboring gene RNA, U6 small nuclear 524, pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22814 Neighboring gene uncharacterized LOC107986365 Neighboring gene uncharacterized LOC124901034 Neighboring gene Sharpr-MPRA regulatory region 7163 Neighboring gene NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 5-like Neighboring gene Sharpr-MPRA regulatory region 11450 Neighboring gene MPRA-validated peak5360 silencer Neighboring gene proprotein convertase subtilisin/kexin type 1 Neighboring gene MPRA-validated peak5361 silencer Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22815 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr5:95992448-95993647 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16193 Neighboring gene H3K27ac hESC enhancer GRCh37_chr5:95997733-95998234 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16194 Neighboring gene H3K27ac hESC enhancer GRCh37_chr5:96038749-96039248 Neighboring gene uncharacterized LOC107986363 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr5:96069728-96070260 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr5:96116076-96117275 Neighboring gene uncharacterized LOC124901031 Neighboring gene H3K27ac hESC enhancer GRCh37_chr5:96143101-96143602 Neighboring gene uncharacterized LOC124901033 Neighboring gene H3K27ac hESC enhancer GRCh37_chr5:96143603-96144102 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22816 Neighboring gene endoplasmic reticulum aminopeptidase 1

    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-leukonuchia-acral punctate keratoses-cheilitis-knuckle pads syndrome
    MedGen: C4225381 OMIM: 616295 GeneReviews: Not available
    Compare labs

    EBI GWAS Catalog

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

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • MGC9402

    General protein information

    Preferred Names
    calpastatin
    Names
    MIR583 host
    calpain inhibitor
    sperm BS-17 component

    NCBI Reference Sequences (RefSeq)

    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_029490.2 RefSeqGene

      Range
      5340..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/TrEMBL
      A0A6Q8PGN6
      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/TrEMBL
      A0A6Q8PGN6
      Conserved Domains (1) summary
      pfam00748
      Location:434564
      Calpain_inhib; Calpain inhibitor
    3. NM_001042442.3NP_001035907.1  calpastatin isoform h

      Status: REVIEWED

      Source sequence(s)
      AC008906, AC020900, KC877037
      Consensus CDS
      CCDS43344.1
      UniProtKB/TrEMBL
      A0A0C4DGB5
      Related
      ENSP00000501713.1, ENST00000674984.1
      Conserved Domains (1) summary
      pfam00748
      Location:431561
      Calpain_inhib; Calpain inhibitor
    4. NM_001042443.3NP_001035908.1  calpastatin isoform i

      Status: REVIEWED

      Source sequence(s)
      AC008906, AC020900, KC877037
      UniProtKB/Swiss-Prot
      B7Z468, G5E946, G5E9D3, O95360, P20810, Q05DE8, Q7Z4K0, Q96D08, Q9H1Z5
      UniProtKB/TrEMBL
      B7Z574
      Related
      ENSP00000379158.2, ENST00000395813.5
      Conserved Domains (1) summary
      pfam00748
      Location:370500
      Calpain_inhib; Calpain inhibitor
    5. NM_001042444.3NP_001035909.1  calpastatin isoform j

      Status: REVIEWED

      Source sequence(s)
      AC008906, AC020900, KC877037
      Consensus CDS
      CCDS93750.1
      UniProtKB/TrEMBL
      A0A6Q8PGG5
      Related
      ENSP00000501659.1, ENST00000675033.1
      Conserved Domains (1) summary
      pfam00748
      Location:329459
      Calpain_inhib; Calpain inhibitor
    6. NM_001042445.3NP_001035910.1  calpastatin isoform k

      Status: REVIEWED

      Source sequence(s)
      AC008906, AC020900, KC877037
      Consensus CDS
      CCDS83017.1
      UniProtKB/TrEMBL
      A0A6Q8PG72, E9PCH5
      Related
      ENSP00000426946.1, ENST00000509903.5
      Conserved Domains (1) summary
      pfam00748
      Location:335465
      Calpain_inhib; Calpain inhibitor
    7. NM_001042446.3NP_001035911.1  calpastatin isoform l

      Status: REVIEWED

      Source sequence(s)
      AC008906, AC020900, KC877037
      UniProtKB/TrEMBL
      A0A6Q8PGG5
      Conserved Domains (1) summary
      pfam00748
      Location:316446
      Calpain_inhib; Calpain inhibitor
    8. NM_001190442.2NP_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
      B7Z4U9
      Related
      ENSP00000343421.3, ENST00000338252.7
      Conserved Domains (1) summary
      pfam00748
      Location:357487
      Calpain_inhib; Calpain inhibitor
    9. NM_001284212.4NP_001271141.1  calpastatin isoform n

      Status: REVIEWED

      Source sequence(s)
      AC008906, AC020900, BX648397, U31345
      UniProtKB/TrEMBL
      A0A6Q8PGN6
      Related
      ENSP00000502345.1, ENST00000674702.1
      Conserved Domains (1) summary
      pfam00748
      Location:329459
      Calpain_inhib; Calpain inhibitor
    10. NM_001284213.4NP_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
      UniProtKB/TrEMBL
      Q59HE3
    12. NM_001330627.2NP_001317556.1  calpastatin isoform q

      Status: REVIEWED

      Source sequence(s)
      AC008906, AC020900, KC877037
      UniProtKB/TrEMBL
      A0A6Q8PGN6
      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
      UniProtKB/TrEMBL
      A0A1S5UZ18
      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
      UniProtKB/TrEMBL
      A0A0C4DGB5
    15. NM_001330630.2NP_001317559.1  calpastatin isoform t

      Status: REVIEWED

      Source sequence(s)
      AC008906, AC020900, KC877037
      UniProtKB/TrEMBL
      A0A6Q8PGG5
      Related
      ENSP00000501797.1, ENST00000674587.1
    16. NM_001330631.2NP_001317560.1  calpastatin isoform m

      Status: REVIEWED

      Source sequence(s)
      AC008906, AC020900, KC877037
      Consensus CDS
      CCDS54883.1
      UniProtKB/TrEMBL
      B7Z4U9
      Related
      ENSP00000502136.1, ENST00000675614.1
    17. NM_001330632.2NP_001317561.1  calpastatin isoform u

      Status: REVIEWED

      Source sequence(s)
      AC008906, AC020900, KC877037
      UniProtKB/TrEMBL
      E7EVY3
    18. NM_001330633.2NP_001317562.1  calpastatin isoform v

      Status: REVIEWED

      Source sequence(s)
      AC008906, AC020900, KC877037
      UniProtKB/TrEMBL
      A0A6Q8PGG5
      Conserved Domains (1) summary
      pfam00748
      Location:351481
      Calpain_inhib; Calpain inhibitor
    19. NM_001330634.2NP_001317563.1  calpastatin isoform w

      Status: REVIEWED

      Source sequence(s)
      AC008906, AC020900, KC877037
      UniProtKB/TrEMBL
      A0A6Q8PGG5
      Related
      ENSP00000502244.1, ENST00000675479.1
    20. NM_001375317.1NP_001362246.1  calpastatin isoform x

      Status: REVIEWED

      Source sequence(s)
      AC008906, AC020900, KC877037
      Consensus CDS
      CCDS93749.1
      UniProtKB/TrEMBL
      A0A0C4DGB5, A0A6Q8PH20
      Related
      ENSP00000502449.1, ENST00000675663.1
      Conserved Domains (1) summary
      pfam00748
      Location:416546
      Calpain_inhib; Calpain inhibitor
    21. NM_001423250.1NP_001410179.1  calpastatin isoform i

      Status: REVIEWED

      Source sequence(s)
      AC008592, AC008906, AC008951, AC020900, AC104123, KC877037
      UniProtKB/Swiss-Prot
      B7Z468, G5E946, G5E9D3, O95360, P20810, Q05DE8, Q7Z4K0, Q96D08, Q9H1Z5
    22. NM_001423251.1NP_001410180.1  calpastatin isoform m

      Status: REVIEWED

      Source sequence(s)
      AC008592, AC008906, AC008951, AC020900, AC104123, KC877037
    23. NM_001423252.1NP_001410181.1  calpastatin isoform m

      Status: REVIEWED

      Source sequence(s)
      AC008906, AC008951, AC020900, AC104123, KC877037
    24. NM_001423253.1NP_001410182.1  calpastatin isoform b

      Status: REVIEWED

      Source sequence(s)
      AC008592, AC008906, AC008951, AC020900, AC104123, KC877037
    25. NM_001423254.1NP_001410183.1  calpastatin isoform b

      Status: REVIEWED

      Source sequence(s)
      AC008592, AC008906, AC008951, AC020900, AC104123, KC877037
    26. NM_001423255.1NP_001410184.1  calpastatin isoform k

      Status: REVIEWED

      Source sequence(s)
      AC008592, AC008906, AC008951, AC020900, KC877037
      UniProtKB/TrEMBL
      E9PCH5
    27. NM_001423256.1NP_001410185.1  calpastatin isoform k

      Status: REVIEWED

      Source sequence(s)
      AC008592, AC008906, AC008951, AC020900, KC877037
      UniProtKB/TrEMBL
      E9PCH5
    28. NM_001423257.1NP_001410186.1  calpastatin isoform k

      Status: REVIEWED

      Source sequence(s)
      AC008906, AC008951, AC020900, AC104123, KC877037
      UniProtKB/TrEMBL
      E9PCH5
    29. NM_001423258.1NP_001410187.1  calpastatin isoform k

      Status: REVIEWED

      Source sequence(s)
      AC008906, AC008951, AC020900, AC104123, KC877037
      UniProtKB/TrEMBL
      E9PCH5
    30. NM_001423259.1NP_001410188.1  calpastatin isoform t

      Status: REVIEWED

      Source sequence(s)
      AC008592, AC008906, AC008951, AC020900, AC104123, KC877037
    31. NM_001423260.1NP_001410189.1  calpastatin isoform l

      Status: REVIEWED

      Source sequence(s)
      AC008906, AC008951, AC020900, AC099509, AC104123, KC877037
    32. 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/TrEMBL
      Q59HE3
      Related
      ENSP00000501872.1, ENST00000675179.1
      Conserved Domains (1) summary
      pfam00748
      Location:453583
      Calpain_inhib; Calpain inhibitor
    33. NM_173060.5NP_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, AL832174, AL832349, AY189741
      Consensus CDS
      CCDS4082.1
      UniProtKB/TrEMBL
      B7Z574
      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
      ENST00000484552.6
    2. NR_186779.1 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AC008592, AC008951, AC104123
    3. NR_186780.1 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AC099509, AC104123

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000005.10 Reference GRCh38.p14 Primary Assembly

      Range
      95961429..96774683
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060929.1 Alternate T2T-CHM13v2.0

      Range
      96462750..97275514
      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.