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    CAST calpastatin [ Homo sapiens (human) ]

    Gene ID: 831, updated on 3-Nov-2024

    Summary

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    Official Symbol
    CASTprovided by HGNC
    Official Full Name
    calpastatinprovided by HGNC
    Primary source
    HGNC:HGNC:1515
    See related
    Ensembl:ENSG00000310517 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
    mouse all
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    Genomic context

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    See CAST in Genome Data Viewer
    Location:
    5q15
    Exon count:
    49
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 5 NC_000005.10 (95961429..96774683)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 5 NC_060929.1 (96462750..97275514)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (95297133..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

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues 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

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    Related articles in PubMed

    1. An association between the calpastatin (CAST) gene and keratoconus. Li X, et al. Cornea, 2013 May. PMID 23449483, Free PMC Article
    2. Inflammatory cytokines induced down-regulation of m-calpain mRNA expression in fibroblastic synoviocytes from patients with osteoarthritis and rheumatoid arthritis. Ishikawa H, et al. Biochem Biophys Res Commun, 1999 Dec 20. PMID 10600505
    3. Increase in ultraviolet sensitivity by overexpression of calpastatin in ultraviolet-resistant UVr-1 cells derived from ultraviolet-sensitive human RSa cells. Hiwasa T, et al. Cell Death Differ, 2000 Jun. PMID 10822276
    4. Molecular cloning and characterization of functional domains of a human testis-specific isoform of calpastatin. Li S, et al. Biol Reprod, 2000 Jul. PMID 10859257
    5. A novel homozygous nonsense mutation in CAST associated with PLACK syndrome. Temel ŞG, et al. Cell Tissue Res, 2019 Nov. PMID 31392520

    See all (152) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Gene-Environment Interaction Between CAST Gene and Eye-Rubbing in the Chinese Keratoconus Cohort Study: A Case-Only Study.
      Title: Gene‒Environment Interaction Between CAST Gene and Eye-Rubbing in the Chinese Keratoconus Cohort Study: A Case-Only Study.
    2. Novel nonsense CAST mutation in two siblings with PLACK syndrome.
      Title: Novel nonsense CAST mutation in two siblings with PLACK syndrome.
    3. Variants in Genes of Calpain System as Modifiers of Spinocerebellar Ataxia Type 3 Phenotype.
      Title: Variants in Genes of Calpain System as Modifiers of Spinocerebellar Ataxia Type 3 Phenotype.
    4. Critical Roles of Calpastatin in Ischemia/Reperfusion Injury in Aged Livers.
      Title: Critical Roles of Calpastatin in Ischemia/Reperfusion Injury in Aged Livers.
    5. A new recessive form of genetic peeling skin syndrome with peeling skin, leukonychia, acral punctate keratoses, cheilitis and knuckle pads (termed PLACK syndrome) shown associated with the loss of function mutations in the CAST gene encoding calpastatin.
      Title: A novel homozygous nonsense mutation in CAST associated with PLACK syndrome.
    6. new human calpastatin skipped of the inhibitory region protects calpain-1 from inactivation and degradation.
      Title: A new human calpastatin skipped of the inhibitory region protects calpain-1 from inactivation and degradation.
    7. Low CAST expression is associated with ovarian cancer.
      Title: Calpain system protein expression and activity in ovarian cancer.
    8. Unexpected role of the L-domain of calpastatin during the autoproteolytic activation of human erythrocyte calpain.
      Title: Unexpected role of the L-domain of calpastatin during the autoproteolytic activation of human erythrocyte calpain.
    9. single nucleotide polymorphisms in CAST gene confer risk for keratoconus susceptibility in Han Chinese population
      Title: Evaluating the association between calpastatin (CAST) gene and keratoconus in the Han Chinese population.
    10. Kaposi sarcoma-associated herpesvirus reduces CAST (calpastatin) and consequently decreases ATG5 expression in both THP-1 monocytoid cells and primary monocytes.
      Title: KSHV reduces autophagy in THP-1 cells and in differentiating monocytes by decreasing CAST/calpastatin and ATG5 expression.
    Submit: New GeneRIF Correction See all GeneRIFs (51)

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    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

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • MGC9402

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables RNA binding HDA PubMed 
    enables cadherin binding HDA PubMed 
    enables calcium-dependent cysteine-type endopeptidase inhibitor activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables calcium-dependent cysteine-type endopeptidase inhibitor activity IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    enables endopeptidase inhibitor activity TAS
    Traceable Author Statement
    more info
    		 PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in inhibition of cysteine-type endopeptidase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in inhibition of cysteine-type endopeptidase activity IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in negative regulation of type B pancreatic cell apoptotic process IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in presynaptic active zone organization TAS
    Traceable Author Statement
    more info
    		 PubMed 
    Component Evidence Code Pubs
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in cytosol TAS
    Traceable Author Statement
    more info
    		  
    located_in endoplasmic reticulum IDA
    Inferred from Direct Assay
    more info
    		  
    located_in membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    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_001042440.5 → NP_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:412 → 542
      Calpain_inhib; Calpain inhibitor

    2. NM_001042441.3 → NP_001035906.1  calpastatin isoform g

      Status: REVIEWED

      Source sequence(s)
      AC008906, AC020900, KC877037
      UniProtKB/TrEMBL
      A0A6Q8PGN6
      Conserved Domains (1) summary
      pfam00748
      Location:434 → 564
      Calpain_inhib; Calpain inhibitor

    3. NM_001042442.3 → NP_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:431 → 561
      Calpain_inhib; Calpain inhibitor

    4. NM_001042443.3 → NP_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:370 → 500
      Calpain_inhib; Calpain inhibitor

    5. NM_001042444.3 → NP_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:329 → 459
      Calpain_inhib; Calpain inhibitor

    6. NM_001042445.3 → NP_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:335 → 465
      Calpain_inhib; Calpain inhibitor

    7. NM_001042446.3 → NP_001035911.1  calpastatin isoform l

      Status: REVIEWED

      Source sequence(s)
      AC008906, AC020900, KC877037
      UniProtKB/TrEMBL
      A0A6Q8PGG5
      Conserved Domains (1) summary
      pfam00748
      Location:316 → 446
      Calpain_inhib; Calpain inhibitor

    8. NM_001190442.2 → NP_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:357 → 487
      Calpain_inhib; Calpain inhibitor

    9. NM_001284212.4 → NP_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:329 → 459
      Calpain_inhib; Calpain inhibitor

    10. NM_001284213.4 → NP_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:298 → 428
      Calpain_inhib; Calpain inhibitor

    11. NM_001330626.2 → NP_001317555.1  calpastatin isoform p

      Status: REVIEWED

      Source sequence(s)
      AC008906, AC020900, KC877037
      UniProtKB/TrEMBL
      Q59HE3

    12. NM_001330627.2 → NP_001317556.1  calpastatin isoform q

      Status: REVIEWED

      Source sequence(s)
      AC008906, AC020900, KC877037
      UniProtKB/TrEMBL
      A0A6Q8PGN6
      Conserved Domains (1) summary
      pfam00748
      Location:412 → 542
      Calpain_inhib; Calpain inhibitor

    13. NM_001330628.2 → NP_001317557.1  calpastatin isoform r

      Status: REVIEWED

      Source sequence(s)
      AC008906, AC020900, KC877037
      UniProtKB/TrEMBL
      A0A1S5UZ18
      Conserved Domains (1) summary
      pfam00748
      Location:397 → 527
      Calpain_inhib; Calpain inhibitor

    14. NM_001330629.2 → NP_001317558.1  calpastatin isoform s

      Status: REVIEWED

      Source sequence(s)
      AC008906, AC020900, KC877037
      UniProtKB/TrEMBL
      A0A0C4DGB5

    15. NM_001330630.2 → NP_001317559.1  calpastatin isoform t

      Status: REVIEWED

      Source sequence(s)
      AC008906, AC020900, KC877037
      UniProtKB/TrEMBL
      A0A6Q8PGG5
      Related
      ENSP00000501797.1, ENST00000674587.1

    16. NM_001330631.2 → NP_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_001330632.2 → NP_001317561.1  calpastatin isoform u

      Status: REVIEWED

      Source sequence(s)
      AC008906, AC020900, KC877037
      UniProtKB/TrEMBL
      E7EVY3

    18. NM_001330633.2 → NP_001317562.1  calpastatin isoform v

      Status: REVIEWED

      Source sequence(s)
      AC008906, AC020900, KC877037
      UniProtKB/TrEMBL
      A0A6Q8PGG5
      Conserved Domains (1) summary
      pfam00748
      Location:351 → 481
      Calpain_inhib; Calpain inhibitor

    19. NM_001330634.2 → NP_001317563.1  calpastatin isoform w

      Status: REVIEWED

      Source sequence(s)
      AC008906, AC020900, KC877037
      UniProtKB/TrEMBL
      A0A6Q8PGG5
      Related
      ENSP00000502244.1, ENST00000675479.1

    20. NM_001375317.1 → NP_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:416 → 546
      Calpain_inhib; Calpain inhibitor

    21. NM_001423250.1 → NP_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_001423251.1 → NP_001410180.1  calpastatin isoform m

      Status: REVIEWED

      Source sequence(s)
      AC008592, AC008906, AC008951, AC020900, AC104123, KC877037

    23. NM_001423252.1 → NP_001410181.1  calpastatin isoform m

      Status: REVIEWED

      Source sequence(s)
      AC008906, AC008951, AC020900, AC104123, KC877037

    24. NM_001423253.1 → NP_001410182.1  calpastatin isoform b

      Status: REVIEWED

      Source sequence(s)
      AC008592, AC008906, AC008951, AC020900, AC104123, KC877037

    25. NM_001423254.1 → NP_001410183.1  calpastatin isoform b

      Status: REVIEWED

      Source sequence(s)
      AC008592, AC008906, AC008951, AC020900, AC104123, KC877037

    26. NM_001423255.1 → NP_001410184.1  calpastatin isoform k

      Status: REVIEWED

      Source sequence(s)
      AC008592, AC008906, AC008951, AC020900, KC877037
      UniProtKB/TrEMBL
      E9PCH5

    27. NM_001423256.1 → NP_001410185.1  calpastatin isoform k

      Status: REVIEWED

      Source sequence(s)
      AC008592, AC008906, AC008951, AC020900, KC877037
      UniProtKB/TrEMBL
      E9PCH5

    28. NM_001423257.1 → NP_001410186.1  calpastatin isoform k

      Status: REVIEWED

      Source sequence(s)
      AC008906, AC008951, AC020900, AC104123, KC877037
      UniProtKB/TrEMBL
      E9PCH5

    29. NM_001423258.1 → NP_001410187.1  calpastatin isoform k

      Status: REVIEWED

      Source sequence(s)
      AC008906, AC008951, AC020900, AC104123, KC877037
      UniProtKB/TrEMBL
      E9PCH5

    30. NM_001423259.1 → NP_001410188.1  calpastatin isoform t

      Status: REVIEWED

      Source sequence(s)
      AC008592, AC008906, AC008951, AC020900, AC104123, KC877037

    31. NM_001423260.1 → NP_001410189.1  calpastatin isoform l

      Status: REVIEWED

      Source sequence(s)
      AC008906, AC008951, AC020900, AC099509, AC104123, KC877037
      Related
      ENSP00000520668.1, ENST00000718093.1

    32. NM_001750.7 → NP_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:453 → 583
      Calpain_inhib; Calpain inhibitor

    33. NM_173060.5 → NP_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:348 → 478
      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_2024_08

    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.
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P20810.4 GenPept UniProtKB/Swiss-Prot:P20810

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