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    CAPNS1 calpain small subunit 1 [ Homo sapiens (human) ]

    Gene ID: 826, updated on 10-Dec-2024

    Summary

    Official Symbol
    CAPNS1provided by HGNC
    Official Full Name
    calpain small subunit 1provided by HGNC
    Primary source
    HGNC:HGNC:1481
    See related
    Ensembl:ENSG00000126247 MIM:114170; AllianceGenome:HGNC:1481
    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
    CANP; CDPS; CSS1; PPH6; CANPS; CAPN4; CALPAIN4
    Summary
    This gene is a member of the calpain small subunit family. Calpains are calcium-dependent cysteine proteinases that are widely distributed in mammalian cells. Calpains operate as heterodimers, comprising a specific large catalytic subunit (calpain 1 subunit in Calpain I, and calpain 2 subunit in Calpain II), and a common small regulatory subunit encoded by this gene. This encoded protein is essential for the stability and function of both calpain heterodimers, whose proteolytic activities influence various cellular functions including apoptosis, proliferation, migration, adhesion, and autophagy. Calpains have been implicated in neurodegenerative processes, such as myotonic dystrophy. A pseudogene of this gene has been defined on chromosome 1. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2014]
    Expression
    Ubiquitous expression in esophagus (RPKM 128.4), heart (RPKM 97.8) and 25 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See CAPNS1 in Genome Data Viewer
    Location:
    19q13.12
    Exon count:
    11
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (36140066..36150353)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (38685882..38696171)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (36630968..36641255)

    Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10547 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14516 Neighboring gene uncharacterized LOC105372385 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14517 Neighboring gene tubulin folding cofactor B Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14518 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14519 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:36646245-36646976 Neighboring gene cytochrome c oxidase subunit 7A1 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:36678024-36678563 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:36678564-36679102 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:36683570-36684070 Neighboring gene zinc finger protein 565 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:36684071-36684571 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14520 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14521 Neighboring gene zinc finger protein 146 Neighboring gene uncharacterized LOC107985304 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:36724474-36724976 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:36724977-36725478

    Genomic regions, transcripts, and products

    Expression

    • 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    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 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 cell population proliferation TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in proteolysis NAS
    Non-traceable Author Statement
    more info
    PubMed 
    involved_in regulation of macroautophagy NAS
    Non-traceable Author Statement
    more info
    PubMed 
    Component Evidence Code Pubs
    part_of calpain complex IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    part_of calpain complex IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    part_of calpain complex ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in cytosol TAS
    Traceable Author Statement
    more info
     
    located_in extracellular exosome HDA PubMed 
    located_in membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in plasma membrane TAS
    Traceable Author Statement
    more info
     

    General protein information

    Preferred Names
    calpain small subunit 1
    Names
    CANP small subunit
    calcium-activated neutral proteinase small subunit
    calcium-dependent protease small subunit 1
    calcium-dependent protease, small subunit
    calpain 4, small subunit (30K)
    calpain regulatory subunit
    calpain, small polypeptide
    epididymis secretory sperm binding protein
    NP_001003962.1
    NP_001289561.1
    NP_001289562.1
    NP_001740.1
    XP_005259352.1
    XP_005259353.1
    XP_011525661.1
    XP_054178264.1
    XP_054178265.1
    XP_054178266.1
    XP_054178267.1

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_001003962.3NP_001003962.1  calpain small subunit 1 isoform 1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Variants 1, 2 and 3 encode the same protein.
      Source sequence(s)
      AK289606, BC000592, BQ891655
      Consensus CDS
      CCDS12489.1
      UniProtKB/Swiss-Prot
      A8K0P1, P04632, Q8WTX3, Q96EW0
      UniProtKB/TrEMBL
      K7ELJ7
      Related
      ENSP00000465575.1, ENST00000590874.5
      Conserved Domains (2) summary
      cd00051
      Location:144194
      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 ...
      cl08302
      Location:175230
      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. NM_001302632.2NP_001289561.1  calpain small subunit 1 isoform 1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR compared to variant 1. Variants 1, 2 and 3 encode the same protein.
      Source sequence(s)
      AD001527, AK289606, BC064998
      Consensus CDS
      CCDS12489.1
      UniProtKB/Swiss-Prot
      A8K0P1, P04632, Q8WTX3, Q96EW0
      UniProtKB/TrEMBL
      K7ELJ7
      Related
      ENSP00000464849.1, ENST00000588815.5
      Conserved Domains (2) summary
      cd00051
      Location:144194
      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 ...
      cl08302
      Location:175230
      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. NM_001302633.2NP_001289562.1  calpain small subunit 1 isoform 2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) lacks two 5' exons and uses an alternate 5' terminal exon which results in the use of a downstream in-frame start codon, compared to variant 1. It encodes isoform 2 which has a shorter N-terminus compared to isoform 1.
      Source sequence(s)
      AD001527, AK289606, BC000592, BQ891655, CN349928, HY003903
      UniProtKB/Swiss-Prot
      P04632
      Conserved Domains (1) summary
      cd16188
      Location:1156
      EFh_PEF_CPNS1_2; Penta-EF hand, calcium binding motifs, found in calcium-dependent protease small subunit CAPNS1 and CAPNS2
    4. NM_001749.4NP_001740.1  calpain small subunit 1 isoform 1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1). Variants 1, 2 and 3 encode the same protein.
      Source sequence(s)
      AK289606, BC000592, BQ891655
      Consensus CDS
      CCDS12489.1
      UniProtKB/Swiss-Prot
      A8K0P1, P04632, Q8WTX3, Q96EW0
      UniProtKB/TrEMBL
      K7ELJ7
      Related
      ENSP00000246533.2, ENST00000246533.8
      Conserved Domains (2) summary
      cd00051
      Location:144194
      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 ...
      cl08302
      Location:175230
      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_000019.10 Reference GRCh38.p14 Primary Assembly

      Range
      36140066..36150353
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_005259295.2XP_005259352.1  calpain small subunit 1 isoform X1

      UniProtKB/TrEMBL
      A0A0C4DGQ5, K7ELJ7
      Related
      ENSP00000468041.1, ENST00000587718.5
      Conserved Domains (1) summary
      cd16188
      Location:100260
      EFh_PEF_CPNS1_2; Penta-EF hand, calcium binding motifs, found in calcium-dependent protease small subunit CAPNS1 and CAPNS2
    2. XM_005259296.2XP_005259353.1  calpain small subunit 1 isoform X1

      UniProtKB/TrEMBL
      A0A0C4DGQ5, K7ELJ7
      Conserved Domains (1) summary
      cd16188
      Location:100260
      EFh_PEF_CPNS1_2; Penta-EF hand, calcium binding motifs, found in calcium-dependent protease small subunit CAPNS1 and CAPNS2
    3. XM_011527359.2XP_011525661.1  calpain small subunit 1 isoform X2

      UniProtKB/TrEMBL
      K7EIV0
      Related
      ENSP00000464903.2, ENST00000586851.5
      Conserved Domains (2) summary
      cd00051
      Location:76126
      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 ...
      cl08302
      Location:107162
      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 ...

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060943.1 Alternate T2T-CHM13v2.0

      Range
      38685882..38696171
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054322289.1XP_054178264.1  calpain small subunit 1 isoform X1

      UniProtKB/TrEMBL
      A0A0C4DGQ5, K7ELJ7
    2. XM_054322290.1XP_054178265.1  calpain small subunit 1 isoform X1

      UniProtKB/TrEMBL
      A0A0C4DGQ5, K7ELJ7
    3. XM_054322292.1XP_054178267.1  calpain small subunit 1 isoform X2

      UniProtKB/TrEMBL
      K7EIV0
    4. XM_054322291.1XP_054178266.1  calpain small subunit 1 isoform X3

      UniProtKB/TrEMBL
      K7EIV0