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CAST calpastatin [ Homo sapiens (human) ]

Gene ID: 831, updated on 4-Dec-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_001042442.3NP_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_001375317.1NP_001362246.1  calpastatin isoform x

    Status: REVIEWED

    Source sequence(s)
    AC008906, AC020900, KC877037
  21. 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
  22. 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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