CAPN7 calpain 7 [Homo sapiens (human)] - Gene

Summary

Official Symbol: CAPN7provided by HGNC
Official Full Name: calpain 7provided by HGNC
Primary source: HGNC:HGNC:1484
See related: Ensembl:ENSG00000131375 MIM:606400; AllianceGenome:HGNC:1484
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: PALBH; CALPAIN7
Summary: Calpains are ubiquitous, well-conserved family of calcium-dependent, cysteine proteases. The calpain proteins are heterodimers consisting of an invariant small subunit and variable large subunits. The large subunit possesses a cysteine protease domain, and both subunits possess calcium-binding domains. Calpains have been implicated in neurodegenerative processes, as their activation can be triggered by calcium influx and oxidative stress. The function of the protein encoded by this gene is not known. An orthologue has been found in mouse but it seems to diverge from other family members. The mouse orthologue is thought to be calcium independent with protease activity. [provided by RefSeq, Jul 2008]
Expression: Ubiquitous expression in thyroid (RPKM 16.5), ovary (RPKM 11.2) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 3p25.1

Exon count:: 24

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	3	NC_000003.12 (15206246..15252916)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	3	NC_060927.1 (15208655..15255322)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	3	NC_000003.11 (15247753..15294423)

Chromosome 3 - NC_000003.12 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: Tissue-specific circular RNA induction during human fetal development
Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
BioProject: PRJNA270632
Publication: PMID 26076956
Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Calpain7 negatively regulates human endometrial stromal cell decidualization in EMs by promoting FoxO1 nuclear exclusion via hydrolyzing AKT1.
Title: Calpain7 negatively regulates human endometrial stromal cell decidualization in EMs by promoting FoxO1 nuclear exclusion via hydrolyzing AKT1.
The proteolytic activity of CAPN7 is important for the acceleration of EGFR degradation via the endosomal sorting pathway.
Title: Involvement of calpain-7 in epidermal growth factor receptor degradation via the endosomal sorting pathway.
Data indicate that CAPN 7 promotes endometrial stromal cell (hESC) migration and invasion by increasing the activity of MMP-2 via an increased ratio of MMP-2 to TIMP-2.
Title: CAPN 7 promotes the migration and invasion of human endometrial stromal cell by regulating matrix metalloproteinase 2 activity.
Mutational analysis of calpain-7 reveals the importance of not only the N-terminal microtubule-interacting and trafficking domains but also the C-terminal C2 domain-like domains for proteolytic activity.
Title: Analysis of limited proteolytic activity of calpain-7 using non-physiological substrates in mammalian cells.
The detected enhancement of autolysis of mGFP-fused calpain-7 by coexpression with CHMP1B and observed further activation by additional coexpression of IST1 in HEK293T cells.
Title: Calpain-7 binds to CHMP1B at its second α-helical region and forms a ternary complex with IST1.
Results demonstrate that human calpain 7 is proteolytically active, and imply that calpain 7 is activated by ESCRT-III-related protein IST1.
Title: Autolytic activity of human calpain 7 is enhanced by ESCRT-III-related protein IST1 through MIT-MIM interaction.

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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

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH68909 (e-PCR)
- UniSTS:30263

G16595 (e-PCR)
- UniSTS:52339

SHGC-64041 (e-PCR)
- UniSTS:28045

SHGC-107505 (e-PCR)
- UniSTS:170403

RH66709 (e-PCR)
- UniSTS:88295

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables MIT domain binding	IPI Inferred from Physical Interaction more info	PubMed
enables calcium-dependent cysteine-type endopeptidase activity	IEA Inferred from Electronic Annotation more info
enables cysteine-type endopeptidase activity	IBA Inferred from Biological aspect of Ancestor more info
enables endopeptidase activity	IDA Inferred from Direct Assay more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in positive regulation of epithelial cell migration	IDA Inferred from Direct Assay more info	PubMed
involved_in proteolysis	IBA Inferred from Biological aspect of Ancestor more info
involved_in self proteolysis	IDA Inferred from Direct Assay more info	PubMed

Component	Evidence Code	Pubs
located_in centrosome	IDA Inferred from Direct Assay more info
located_in cytosol	IDA Inferred from Direct Assay more info
located_in extracellular exosome	HDA more info	PubMed
located_in nucleus	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: calpain-7

Names: calpain like protease; homolog of Aspergillus Nidulans PALB; palB homolog

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_001376086.1 → NP_001363015.1 calpain-7 isoform 2

Status: REVIEWED

Source sequence(s)

AC087590

UniProtKB/TrEMBL

B2RAM2

Conserved Domains (3) summary

smart00720
Location:643 → 766

calpain_III; calpain_III domain

cd00044
Location:170 → 494

CysPc; Calpains, domains IIa, IIb; calcium-dependent cytoplasmic cysteine proteinases, papain-like. Functions in cytoskeletal remodeling processes, cell differentiation, apoptosis and signal transduction.

cl00299
Location:41 → 115

MIT; domain contained within Microtubule Interacting and Trafficking molecules. The MIT domain is found in sorting nexins, the nuclear thiol protease PalBH, the AAA protein spastin and archaebacterial proteins with similar domain architecture, vacuolar ...
NM_001376087.1 → NP_001363016.1 calpain-7 isoform 3

Status: REVIEWED

Source sequence(s)

AC087590

UniProtKB/TrEMBL

B2RAM2, Q7Z479

Conserved Domains (4) summary

smart00720
Location:620 → 743

calpain_III; calpain_III domain

cd00044
Location:147 → 471

CysPc; Calpains, domains IIa, IIb; calcium-dependent cytoplasmic cysteine proteinases, papain-like. Functions in cytoskeletal remodeling processes, cell differentiation, apoptosis and signal transduction.

cd02681
Location:5 → 76

MIT_calpain7_1; MIT: domain contained within Microtubule Interacting and Trafficking molecules. This sub-family of MIT domains is found in the nuclear thiol protease PalBH. The molecular function of the MIT domain is unclear.

cl00299
Location:85 → 149

MIT; domain contained within Microtubule Interacting and Trafficking molecules. The MIT domain is found in sorting nexins, the nuclear thiol protease PalBH, the AAA protein spastin and archaebacterial proteins with similar domain architecture, vacuolar ...
NM_001376089.1 → NP_001363018.1 calpain-7 isoform 4

Status: REVIEWED

Source sequence(s)

AC087590

UniProtKB/TrEMBL

B2RAM2

Conserved Domains (4) summary

smart00720
Location:593 → 716

calpain_III; calpain_III domain

cd00044
Location:214 → 538

CysPc; Calpains, domains IIa, IIb; calcium-dependent cytoplasmic cysteine proteinases, papain-like. Functions in cytoskeletal remodeling processes, cell differentiation, apoptosis and signal transduction.

cd02681
Location:5 → 76

MIT_calpain7_1; MIT: domain contained within Microtubule Interacting and Trafficking molecules. This sub-family of MIT domains is found in the nuclear thiol protease PalBH. The molecular function of the MIT domain is unclear.

cl00299
Location:85 → 159

MIT; domain contained within Microtubule Interacting and Trafficking molecules. The MIT domain is found in sorting nexins, the nuclear thiol protease PalBH, the AAA protein spastin and archaebacterial proteins with similar domain architecture, vacuolar ...
NM_001376090.1 → NP_001363019.1 calpain-7 isoform 5

Status: REVIEWED

Source sequence(s)

AC087590

UniProtKB/TrEMBL

B2RAM2

Conserved Domains (4) summary

smart00720
Location:574 → 695

calpain_III; calpain_III domain

cd00044
Location:214 → 538

CysPc; Calpains, domains IIa, IIb; calcium-dependent cytoplasmic cysteine proteinases, papain-like. Functions in cytoskeletal remodeling processes, cell differentiation, apoptosis and signal transduction.

cd02681
Location:5 → 76

MIT_calpain7_1; MIT: domain contained within Microtubule Interacting and Trafficking molecules. This sub-family of MIT domains is found in the nuclear thiol protease PalBH. The molecular function of the MIT domain is unclear.

cl00299
Location:85 → 159

MIT; domain contained within Microtubule Interacting and Trafficking molecules. The MIT domain is found in sorting nexins, the nuclear thiol protease PalBH, the AAA protein spastin and archaebacterial proteins with similar domain architecture, vacuolar ...
NM_001376091.1 → NP_001363020.1 calpain-7 isoform 6

Status: REVIEWED

Source sequence(s)

AC087590

UniProtKB/TrEMBL

B2RAM2

Conserved Domains (3) summary

smart00720
Location:549 → 672

calpain_III; calpain_III domain

cd00044
Location:170 → 494

CysPc; Calpains, domains IIa, IIb; calcium-dependent cytoplasmic cysteine proteinases, papain-like. Functions in cytoskeletal remodeling processes, cell differentiation, apoptosis and signal transduction.

cl00299
Location:41 → 115

MIT; domain contained within Microtubule Interacting and Trafficking molecules. The MIT domain is found in sorting nexins, the nuclear thiol protease PalBH, the AAA protein spastin and archaebacterial proteins with similar domain architecture, vacuolar ...
NM_001376093.1 → NP_001363022.1 calpain-7 isoform 7

Status: REVIEWED

Source sequence(s)

AC087590

Conserved Domains (4) summary

smart00720
Location:502 → 625

calpain_III; calpain_III domain

cd00044
Location:123 → 447

CysPc; Calpains, domains IIa, IIb; calcium-dependent cytoplasmic cysteine proteinases, papain-like. Functions in cytoskeletal remodeling processes, cell differentiation, apoptosis and signal transduction.

cd02681
Location:5 → 76

MIT_calpain7_1; MIT: domain contained within Microtubule Interacting and Trafficking molecules. This sub-family of MIT domains is found in the nuclear thiol protease PalBH. The molecular function of the MIT domain is unclear.

cl00299
Location:85 → 125

MIT; domain contained within Microtubule Interacting and Trafficking molecules. The MIT domain is found in sorting nexins, the nuclear thiol protease PalBH, the AAA protein spastin and archaebacterial proteins with similar domain architecture, vacuolar ...
NM_014296.3 → NP_055111.1 calpain-7 isoform 1

See identical proteins and their annotated locations for NP_055111.1

Status: REVIEWED

Source sequence(s)

AB028639, BC056202, BI464220, BM974327, BX502535

Consensus CDS

CCDS2624.1

UniProtKB/Swiss-Prot

Q9Y6W3

UniProtKB/TrEMBL

B2RAM2

Related

ENSP00000253693.2, ENST00000253693.7

Conserved Domains (4) summary

smart00720
Location:687 → 810

calpain_III; calpain_III domain

cd00044
Location:214 → 538

CysPc; Calpains, domains IIa, IIb; calcium-dependent cytoplasmic cysteine proteinases, papain-like. Functions in cytoskeletal remodeling processes, cell differentiation, apoptosis and signal transduction.

cd02681
Location:5 → 76

MIT_calpain7_1; MIT: domain contained within Microtubule Interacting and Trafficking molecules. This sub-family of MIT domains is found in the nuclear thiol protease PalBH. The molecular function of the MIT domain is unclear.

cl00299
Location:85 → 159

MIT; domain contained within Microtubule Interacting and Trafficking molecules. The MIT domain is found in sorting nexins, the nuclear thiol protease PalBH, the AAA protein spastin and archaebacterial proteins with similar domain architecture, vacuolar ...