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CAST calpastatin [ Homo sapiens (human) ]

Gene ID: 831, updated on 9-Jun-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
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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)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

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
    UniProtKB/TrEMBL
    B7Z574
  22. NM_001423251.1NP_001410180.1  calpastatin isoform m

    Status: REVIEWED

    Source sequence(s)
    AC008592, AC008906, AC008951, AC020900, AC104123, KC877037
    UniProtKB/TrEMBL
    B7Z4U9
  23. NM_001423252.1NP_001410181.1  calpastatin isoform m

    Status: REVIEWED

    Source sequence(s)
    AC008906, AC008951, AC020900, AC104123, KC877037
    UniProtKB/TrEMBL
    B7Z4U9
  24. NM_001423253.1NP_001410182.1  calpastatin isoform b

    Status: REVIEWED

    Source sequence(s)
    AC008592, AC008906, AC008951, AC020900, AC104123, KC877037
    UniProtKB/TrEMBL
    B7Z574
  25. NM_001423254.1NP_001410183.1  calpastatin isoform b

    Status: REVIEWED

    Source sequence(s)
    AC008592, AC008906, AC008951, AC020900, AC104123, KC877037
    UniProtKB/TrEMBL
    B7Z574
  26. NM_001423255.1NP_001410184.1  calpastatin isoform k

    Status: REVIEWED

    Source sequence(s)
    AC008592, AC008906, AC008951, AC020900, KC877037
    UniProtKB/TrEMBL
    A0A6Q8PG72, E9PCH5
  27. NM_001423256.1NP_001410185.1  calpastatin isoform k

    Status: REVIEWED

    Source sequence(s)
    AC008592, AC008906, AC008951, AC020900, KC877037
    UniProtKB/TrEMBL
    A0A6Q8PG72, E9PCH5
  28. NM_001423257.1NP_001410186.1  calpastatin isoform k

    Status: REVIEWED

    Source sequence(s)
    AC008906, AC008951, AC020900, AC104123, KC877037
    UniProtKB/TrEMBL
    A0A6Q8PG72, E9PCH5
  29. NM_001423258.1NP_001410187.1  calpastatin isoform k

    Status: REVIEWED

    Source sequence(s)
    AC008906, AC008951, AC020900, AC104123, KC877037
    UniProtKB/TrEMBL
    A0A6Q8PG72, E9PCH5
  30. NM_001423259.1NP_001410188.1  calpastatin isoform t

    Status: REVIEWED

    Source sequence(s)
    AC008592, AC008906, AC008951, AC020900, AC104123, KC877037
    UniProtKB/TrEMBL
    A0A6Q8PG72
  31. NM_001423260.1NP_001410189.1  calpastatin isoform l

    Status: REVIEWED

    Source sequence(s)
    AC008906, AC008951, AC020900, AC099509, AC104123, KC877037
    UniProtKB/TrEMBL
    A0A6Q8PGG5
  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.