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    CAPN11 calpain 11 [ Homo sapiens (human) ]

    Gene ID: 11131, updated on 27-Nov-2024

    Summary

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    Official Symbol
    CAPN11provided by HGNC
    Official Full Name
    calpain 11provided by HGNC
    Primary source
    HGNC:HGNC:1478
    See related
    Ensembl:ENSG00000137225 MIM:604822; AllianceGenome:HGNC:1478
    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
    calpain11
    Summary
    Calpains constitute a family of intracellular calcium-dependent cysteine proteases. There are eight members in this superfamily. They consist of a variable 80 kDa subunit and an invariant 30 kDa subunit. This calpain protein appears to have protease activity and calcium-binding ability. A similar mouse protein may play a functional role in spermatogenesis and in the regulation of calcium-dependent signal transduction events during meiosis. [provided by RefSeq, Dec 2008]
    Expression
    Restricted expression toward testis (RPKM 18.7) See more
    Orthologs
    mouse all
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    Genomic context

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    See CAPN11 in Genome Data Viewer
    Location:
    6p21.1
    Exon count:
    25
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 6 NC_000006.12 (44158820..44184401)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 6 NC_060930.1 (43992275..44018561)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (44126557..44152138)

    Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_91835 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_91840 Neighboring gene mitochondrial ribosomal protein L14 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17250 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17251 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17252 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17253 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17254 Neighboring gene ReSE screen-validated silencer GRCh37_chr6:44098898-44099057 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:44100902-44101867 Neighboring gene transmembrane protein 63B Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:44101868-44102832 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_91847 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_91852 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_91874 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_91884 Neighboring gene uncharacterized LOC107986599 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_91890 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17255 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:44134475-44135357 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr6:44137200-44138399 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:44144390-44145092 Neighboring gene uncharacterized LOC105375072 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:44168290-44169290 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:44169291-44170290 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:44170291-44171291 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:44171292-44172291 Neighboring gene myomixer, myoblast fusion factor Neighboring gene RNA, 7SL, cytoplasmic 811, pseudogene

    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
    • 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. The calpains. Melloni E, et al. Trends Neurosci, 1989 Nov. PMID 2479145
    2. Calpain: new perspectives in molecular diversity and physiological-pathological involvement. Saido TC, et al. FASEB J, 1994 Aug. PMID 8070630
    3. CAPN11: A calpain with high mRNA levels in testis and located on chromosome 6. Dear TN, et al. Genomics, 1999 Jul 15. PMID 10409436
    4. Calpain-calpastatin: a novel, complete calcium-dependent protease system in human spermatozoa. Rojas FJ, et al. Mol Hum Reprod, 1999 Jun. PMID 10340998
    5. Calpain 11 is unique to mouse spermatogenic cells. Ben-Aharon I, et al. Mol Reprod Dev, 2006 Jun. PMID 16541461, Free PMC Article

    See all (17) citations in PubMed

    GeneRIFs: Gene References Into Functions

    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)

    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

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables calcium ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables calcium-dependent cysteine-type endopeptidase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables peptidase activity TAS
    Traceable Author Statement
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in proteolysis IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    located_in acrosomal vesicle IEA
    Inferred from Electronic Annotation
    more info
    		  
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    calpain-11
    Names
    CANP 11
    calcium-activated neutral proteinase 11
    NP_008989.2
    XP_006715047.1
    XP_006715048.1
    XP_006715050.1
    XP_011512576.1
    XP_011512577.1
    XP_054210100.1
    XP_054210101.1
    XP_054210102.1
    XP_054210103.1
    XP_054210104.1

    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)

    1. NM_007058.4 → NP_008989.2  calpain-11

      See identical proteins and their annotated locations for NP_008989.2

      Status: REVIEWED

      Source sequence(s)
      AJ242832, BC033733, DB052011
      Consensus CDS
      CCDS47436.1
      UniProtKB/Swiss-Prot
      B2RA64, Q5T3G1, Q8N4R5, Q9UMQ6
      Related
      ENSP00000381758.1, ENST00000398776.2
      Conserved Domains (3) summary
      pfam00648
      Location:80 → 376
      Peptidase_C2; Calpain family cysteine protease
      pfam01067
      Location:390 → 544
      Calpain_III; Calpain large subunit, domain III
      cl08302
      Location:615 → 665
      EFh; EF-hand, calcium binding motif; A diverse superfamily of calcium sensors and calcium signal modulators; most examples in this alignment model have 2 active canonical EF hands. Ca2+ binding induces a conformational change in the EF-hand motif, leading to ...

    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_000006.12 Reference GRCh38.p14 Primary Assembly

      Range
      44158820..44184401
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011514274.2 → XP_011512576.1  calpain-11 isoform X3

      Conserved Domains (3) summary
      pfam00648
      Location:85 → 381
      Peptidase_C2; Calpain family cysteine protease
      pfam01067
      Location:395 → 549
      Calpain_III; Calpain large subunit, domain III
      cl08302
      Location:620 → 670
      EFh; EF-hand, calcium binding motif; A diverse superfamily of calcium sensors and calcium signal modulators; most examples in this alignment model have 2 active canonical EF hands. Ca2+ binding induces a conformational change in the EF-hand motif, leading to ...

    2. XM_011514275.1 → XP_011512577.1  calpain-11 isoform X4

      Conserved Domains (3) summary
      pfam00648
      Location:84 → 380
      Peptidase_C2; Calpain family cysteine protease
      pfam01067
      Location:394 → 548
      Calpain_III; Calpain large subunit, domain III
      cl08302
      Location:619 → 669
      EFh; EF-hand, calcium binding motif; A diverse superfamily of calcium sensors and calcium signal modulators; most examples in this alignment model have 2 active canonical EF hands. Ca2+ binding induces a conformational change in the EF-hand motif, leading to ...

    3. XM_006714984.2 → XP_006715047.1  calpain-11 isoform X1

      Conserved Domains (3) summary
      pfam00648
      Location:81 → 377
      Peptidase_C2; Calpain family cysteine protease
      pfam01067
      Location:391 → 545
      Calpain_III; Calpain large subunit, domain III
      cl08302
      Location:616 → 666
      EFh; EF-hand, calcium binding motif; A diverse superfamily of calcium sensors and calcium signal modulators; most examples in this alignment model have 2 active canonical EF hands. Ca2+ binding induces a conformational change in the EF-hand motif, leading to ...

    4. XM_006714985.2 → XP_006715048.1  calpain-11 isoform X2

      Conserved Domains (3) summary
      pfam00648
      Location:81 → 377
      Peptidase_C2; Calpain family cysteine protease
      pfam01067
      Location:391 → 545
      Calpain_III; Calpain large subunit, domain III
      cl08302
      Location:616 → 666
      EFh; EF-hand, calcium binding motif; A diverse superfamily of calcium sensors and calcium signal modulators; most examples in this alignment model have 2 active canonical EF hands. Ca2+ binding induces a conformational change in the EF-hand motif, leading to ...

    5. XM_006714987.2 → XP_006715050.1  calpain-11 isoform X5

      Conserved Domains (2) summary
      pfam00648
      Location:81 → 377
      Peptidase_C2; Calpain family cysteine protease
      pfam01067
      Location:391 → 545
      Calpain_III; Calpain large subunit, domain III

    RNA

    1. XR_001743136.2 RNA Sequence

    2. XR_001743135.2 RNA Sequence

    3. XR_926042.2 RNA Sequence

    4. XR_001743134.2 RNA Sequence

    5. XR_926043.2 RNA Sequence

    6. XR_926044.2 RNA Sequence

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060930.1 Alternate T2T-CHM13v2.0

      Range
      43992275..44018561
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054354127.1 → XP_054210102.1  calpain-11 isoform X3

    2. XM_054354128.1 → XP_054210103.1  calpain-11 isoform X4

    3. XM_054354125.1 → XP_054210100.1  calpain-11 isoform X1

    4. XM_054354126.1 → XP_054210101.1  calpain-11 isoform X2

    5. XM_054354129.1 → XP_054210104.1  calpain-11 isoform X5

    RNA

    1. XR_008487247.1 RNA Sequence

    2. XR_008487246.1 RNA Sequence

    3. XR_008487244.1 RNA Sequence

    4. XR_008487245.1 RNA Sequence

    5. XR_008487248.1 RNA Sequence

    6. XR_008487249.1 RNA Sequence

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9UMQ6.2 GenPept UniProtKB/Swiss-Prot:Q9UMQ6

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