Cast calpastatin [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Castprovided by MGI
Official Full Name: calpastatinprovided by MGI
Primary source: MGI:MGI:1098236
See related: Ensembl:ENSMUSG00000021585 AllianceGenome:MGI:1098236
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Summary: This gene encodes an inhibitor of the calcium-dependent cysteine protease, calpain. This protein plays roles in multiple processes, including apoptosis, cell cycle regulation, and membrane fusion. Multiple protein isoforms exist which contain unique N-terminal domains, and multiple inhibitory domains that share homology with each other. Some isoforms may be tissue-specific. Two different pseudogenes of this gene are found on chromosome 19. [provided by RefSeq, Jul 2014]
Expression: Broad expression in bladder adult (RPKM 25.7), placenta adult (RPKM 10.2) and 17 other tissues See more
Orthologs: human all
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Genomic context

Location:: 13 C1; 13 40.52 cM

Exon count:: 35

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	13	NC_000079.7 (74840485..74956993, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	13	NC_000079.6 (74692366..74808874, complement)

Chromosome 13 - NC_000079.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Osteocyte-Derived CaMKK2 Regulates Osteoclasts and Bone Mass in a Sex-Dependent Manner through Secreted Calpastatin.
Title: Osteocyte-Derived CaMKK2 Regulates Osteoclasts and Bone Mass in a Sex-Dependent Manner through Secreted Calpastatin.
Critical Roles of Calpastatin in Ischemia/Reperfusion Injury in Aged Livers.
Title: Critical Roles of Calpastatin in Ischemia/Reperfusion Injury in Aged Livers.
Small-molecule suppression of calpastatin degradation reduces neuropathology in models of Huntington's disease.
Title: Small-molecule suppression of calpastatin degradation reduces neuropathology in models of Huntington's disease.
Skeletal muscle-specific calpastatin overexpression mitigates muscle weakness in aging and extends life span.
Title: Skeletal muscle-specific calpastatin overexpression mitigates muscle weakness in aging and extends life span.
Impaired experience-dependent maternal care in presynaptic active zone protein CAST-deficient dams.
Title: Impaired experience-dependent maternal care in presynaptic active zone protein CAST-deficient dams.
These data identify distinct roles for CAST/ELKS as positive regulators of CaV2.1 channel density.
Title: CAST/ELKS Proteins Control Voltage-Gated Ca(2+) Channel Density and Synaptic Release Probability at a Mammalian Central Synapse.
These results suggest that CAST and ELKS work in concert to promote retinal synapse formation, transmission, and maintenance.
Title: Cytomatrix proteins CAST and ELKS regulate retinal photoreceptor development and maintenance.
mice that were either wild type (WT) or overexpressing calpastatin (CAST Tg), the endogenous inhibitor of calpains were fed with high (60% kcal) fat diet for 16 weeks. CAST overexpression significantly reduced adipocyte apoptosis, adipose tissue collagen and macrophage accumulation; and significantly attenuated obesity-induced inflammatory responses in adipose tissue.
Title: Calpain Inhibition Attenuates Adipose Tissue Inflammation and Fibrosis in Diet-induced Obese Mice.
The knockdown of CAST in mutant huntingtin-expressing cells and the knockout of the Cast gene in a knock-in mouse model of HD resulted in a worsening of the molecular HD-related hallmarks including elevated formation of huntingtin fragments and increased amount of respective aggregates
Title: Calpastatin ablation aggravates the molecular phenotype in cell and animal models of Huntington disease.
calpains and calpastatin in patients with idiopathic pulmonary arterial hypertension (PAH) and mice with hypoxic or spontaneous (SM22-5HTT(+) strain) PH, were investigated.
Title: Extracellular Calpain/Calpastatin Balance Is Involved in the Progression of Pulmonary Hypertension.

Submit: New GeneRIF Correction See all GeneRIFs (35)

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Targeted (3) 1 citation
Endonuclease-mediated (2)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

px-31f3 (e-PCR)
- UniSTS:257585

D10Mit157.2 (e-PCR), detects polymorphism
- UniSTS:126061

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
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	ISO Inferred from Sequence Orthology more info
enables cysteine-type endopeptidase inhibitor activity	IEA Inferred from Electronic Annotation more info
enables peptidase inhibitor activity	IEA Inferred from Electronic Annotation more info
enables protease binding	ISO Inferred from Sequence Orthology more info

Process	Evidence Code	Pubs
involved_in egg activation	ISO Inferred from Sequence Orthology more info
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	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within negative regulation of peptidase activity	IGI Inferred from Genetic Interaction more info	PubMed
involved_in negative regulation of type B pancreatic cell apoptotic process	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within protein catabolic process	ISA Inferred from Sequence Alignment more info	PubMed

Component	Evidence Code	Pubs
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info
located_in cytosol	ISO Inferred from Sequence Orthology more info
located_in endoplasmic reticulum	ISO Inferred from Sequence Orthology more info
located_in membrane	IDA Inferred from Direct Assay more info	PubMed
located_in membrane	ISO Inferred from Sequence Orthology more info
located_in postsynaptic density	ISO Inferred from Sequence Orthology more info

General protein information

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Preferred Names: calpastatin

Names: calpain inhibitor; calpastatin type III

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.

mRNA and Protein(s)

NM_001301153.1 → NP_001288082.1 calpastatin isoform 1

See identical proteins and their annotated locations for NP_001288082.1

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).

Source sequence(s)

AA033475, AK036576, AK037098, AK083395, BY771015, CF164079, CN529927

Consensus CDS

CCDS88491.1

UniProtKB/Swiss-Prot

P51125, Q9EQV4, Q9EQV5, Q9QXQ3, Q9QXQ4, Q9R0N1

UniProtKB/TrEMBL

Q8CB83

Related

ENSMUSP00000152174.2, ENSMUST00000223206.2

Conserved Domains (1) summary

pfam00748
Location:591 → 715

Calpain_inhib; Calpain inhibitor
NM_001301155.1 → NP_001288084.1 calpastatin isoform 3

See identical proteins and their annotated locations for NP_001288084.1

Status: REVIEWED

Description

Transcript Variant: This variant (3) represents use of an alternate promoter and therefore differs in the 5' UTR and 5' coding region, compared to variant 1. These differences cause translation initiation at a downstream start codon and result in an isoform (3) with a shorter N-terminus. This variant (3) also uses an alternate in-frame splice site in the coding region, compared to variant 1. The resulting protein (isoform 3) has a shorter N-terminus and is shorter than isoform 1.

Source sequence(s)

AK029293, AK037098, AK083395, CJ072297

Consensus CDS

CCDS88490.1

UniProtKB/TrEMBL

Q8CB83, Q8CE04

Related

ENSMUSP00000152118.2, ENSMUST00000223033.2

Conserved Domains (1) summary

pfam00748
Location:231 → 355

Calpain_inhib; Calpain inhibitor
NM_001301156.1 → NP_001288085.1 calpastatin isoform 4

See identical proteins and their annotated locations for NP_001288085.1

Status: REVIEWED

Description

Transcript Variant: This variant (4) represents use of an alternate promoter and therefore differs in the 5' UTR and 5' coding region, compared to variant 1. These differences cause translation initiation at a downstream start codon and result in an isoform (4) with a shorter N-terminus. This variant (4) also lacks an internal exon in the coding region. The resulting protein (isoform 4) has a shorter N-terminus and is shorter than isoform 1.

Source sequence(s)

AK029293, AK037098, AK083310, AK083395, CJ072297

Consensus CDS

CCDS88489.1

UniProtKB/TrEMBL

Q8C281, Q8CB83

Related

ENSMUSP00000152306.2, ENSMUST00000222588.2

Conserved Domains (1) summary

pfam00748
Location:489 → 613

Calpain_inhib; Calpain inhibitor
NM_001301157.1 → NP_001288086.1 calpastatin isoform 5

See identical proteins and their annotated locations for NP_001288086.1

Status: REVIEWED

Description

Transcript Variant: This variant (5) represents use of an alternate promoter and therefore differs in the 5' UTR and 5' coding region, compared to variant 1. These differences cause translation initiation at a downstream start codon and result in an isoform (5) with a shorter N-terminus. This variant also lacks two internal exons relative to variant 1. The resulting protein (isoform 5) has a shorter N-terminus and is shorter than isoform 1.

Source sequence(s)

AK037098, AK083395, BC010603, CJ072297

Consensus CDS

CCDS88488.1

UniProtKB/TrEMBL

Q8CB83, Q921U7

Related

ENSMUSP00000152550.2, ENSMUST00000223126.2

Conserved Domains (1) summary

pfam00748
Location:212 → 336

Calpain_inhib; Calpain inhibitor
NM_001301158.1 → NP_001288087.1 calpastatin isoform 6

See identical proteins and their annotated locations for NP_001288087.1

Status: REVIEWED

Description

Transcript Variant: This variant (6) represents use of an alternate promoter and therefore differs in the 5' UTR and 5' coding region, compared to variant 1. These differences cause translation initiation at an alternate start codon and result in an isoform (6) with a shorter and distinct N-terminus. This variant (6) also uses an alternate in-frame splice site in the coding region, compared to variant 1. The resulting protein (isoform 6) has a distinct N-terminus and is shorter than isoform 1.

Source sequence(s)

AK006253, AK029293, AK037098, AK083395, BY086784

Consensus CDS

CCDS88486.1

UniProtKB/TrEMBL

A0A1Y7VJN8

Related

ENSMUSP00000152504.2, ENSMUST00000220738.2

Conserved Domains (1) summary

pfam00748
Location:249 → 372

Calpain_inhib; Calpain inhibitor
NM_001301160.1 → NP_001288089.1 calpastatin isoform 7

See identical proteins and their annotated locations for NP_001288089.1

Status: REVIEWED

Description

Transcript Variant: This variant (7) represents use of an alternate promoter and therefore differs in the 5' UTR and 5' coding region, compared to variant 1. These differences cause translation initiation at an alternate start codon and result in an isoform (7) with a shorter N-terminus. The resulting protein (isoform 7) has a shorter and distinct N-terminus and is shorter than isoform 1.

Source sequence(s)

AK006253, AK029293, AK037098, AK083395, AK161284

Consensus CDS

CCDS88487.1

UniProtKB/TrEMBL

Q3TTN2

Related

ENSMUSP00000152657.2, ENSMUST00000223309.2

Conserved Domains (1) summary

pfam00748
Location:234 → 358

Calpain_inhib; Calpain inhibitor
NM_001301181.1 → NP_001288110.1 calpastatin isoform 8

See identical proteins and their annotated locations for NP_001288110.1

Status: REVIEWED

Description

Transcript Variant: This variant (8) represents use of an alternate promoter and therefore differs in the 5' UTR and 5' coding region, compared to variant 1. These differences cause translation initiation at an alternate start codon and result in an isoform (8) with a shorter and distinct N-terminus. The resulting protein (isoform 8) has a distinct and shorter N-terminus and is shorter than isoform 1.

Source sequence(s)

AK006253, AK037098, AK083395, AK161284, BY086784

UniProtKB/Swiss-Prot

P51125

UniProtKB/TrEMBL

Q3TTN2

Conserved Domains (1) summary

pfam00748
Location:249 → 373

Calpain_inhib; Calpain inhibitor
NM_009817.4 → NP_033947.1 calpastatin isoform 2

See identical proteins and their annotated locations for NP_033947.1

Status: REVIEWED

Description

Transcript Variant: This variant (2) represents use of an alternate promoter and therefore differs in the 5' UTR and 5' coding region, compared to variant 1. These differences cause translation initiation at an alternate start codon and result in an isoform (2) with a shorter and distinct N-terminus. This variant also lacks one internal exons relative to variant 1. The resulting protein (isoform 2) has a distinct N-terminus and is shorter than isoform 1.

Source sequence(s)

AK028843, AK037098, AK083395, CD550676

Consensus CDS

CCDS26648.1

UniProtKB/TrEMBL

Q8CB83, Q8CE80

Related

ENSMUSP00000065275.5, ENSMUST00000065629.6

Conserved Domains (1) summary

pfam00748
Location:557 → 681

Calpain_inhib; Calpain inhibitor

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

Reference GRCm39 C57BL/6J

Genomic

NC_000079.7 Reference GRCm39 C57BL/6J

Range

74840485..74956993 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_006517059.1 → XP_006517122.1 calpastatin isoform X3

UniProtKB/TrEMBL

Q8CB83

Conserved Domains (1) summary

pfam00748
Location:295 → 419

Calpain_inhib; Calpain inhibitor
XM_006517056.2 → XP_006517119.1 calpastatin isoform X1

UniProtKB/TrEMBL

Q8CB83

Conserved Domains (1) summary

pfam00748
Location:314 → 438

Calpain_inhib; Calpain inhibitor
XM_011244466.4 → XP_011242768.1 calpastatin isoform X2

See identical proteins and their annotated locations for XP_011242768.1

UniProtKB/TrEMBL

Q8CB83

Conserved Domains (2) summary

PTZ00449
Location:23 → 217

PTZ00449; 104 kDa microneme/rhoptry antigen; Provisional

pfam00748
Location:299 → 423

Calpain_inhib; Calpain inhibitor
XM_017315374.1 → XP_017170863.1 calpastatin isoform X5

UniProtKB/TrEMBL

Q8CB83

Conserved Domains (1) summary

pfam00748
Location:212 → 336

Calpain_inhib; Calpain inhibitor
XM_011244467.4 → XP_011242769.1 calpastatin isoform X4

See identical proteins and their annotated locations for XP_011242769.1

UniProtKB/TrEMBL

Q8CB83

Conserved Domains (1) summary

pfam00748
Location:231 → 355

Calpain_inhib; Calpain inhibitor
XM_011244469.4 → XP_011242771.1 calpastatin isoform X6

Conserved Domains (1) summary

pfam00748
Location:234 → 357

Calpain_inhib; Calpain inhibitor