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CASP12 caspase 12 (gene/pseudogene) [ Homo sapiens (human) ]

Gene ID: 100506742, updated on 6-Jul-2014
Official Symbol
CASP12provided by HGNC
Official Full Name
caspase 12 (gene/pseudogene)provided by HGNC
Primary source
HGNC:19004
Locus tag
UNQ9415
See related
Ensembl:ENSG00000204403; MIM:608633; Vega:OTTHUMG00000154965
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
CASP-12; CASP12P1
Summary
Caspases are cysteine proteases that cleave C-terminal aspartic acid residues on their substrate molecules. This gene is most highly related to members of the ICE subfamily of caspases that process inflammatory cytokines. In rodents, the homolog of this gene mediates apoptosis in response to endoplasmic reticulum stress. However, in humans this gene contains a polymorphism for the presence or absence of a premature stop codon. The majority of human individuals have the premature stop codon and produce a truncated non-functional protein. The read-through codon occurs primarily in individuals of African descent and carriers have endotoxin hypo-responsiveness and an increased susceptibility to severe sepsis. Several alternatively spliced transcript variants have been noted for this gene. [provided by RefSeq, Feb 2011]
See CASP12 in Epigenomics, MapViewer
Location:
11q22.3
Exon count:
8
Annotation release Status Assembly Chr Location
106 current GRCh38 (GCF_000001405.26) 11 NC_000011.10 (104886691..104898670, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (104756445..104769397, complement)

Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC102723879 Neighboring gene uncharacterized LOC102723895 Neighboring gene caspase 4, apoptosis-related cysteine peptidase pseudogene Neighboring gene caspase 4, apoptosis-related cysteine peptidase

Related articles in PubMed

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Products Interactant Other Gene Complex Source Pubs Description

Gene Ontology Provided by GOA

Function Evidence Code Pubs
cysteine-type endopeptidase activity IBA
Inferred from Biological aspect of Ancestor
more info
 
Process Evidence Code Pubs
endoplasmic reticulum unfolded protein response IEA
Inferred from Electronic Annotation
more info
 
NOT execution phase of apoptosis IBA
Inferred from Biological aspect of Ancestor
more info
 
intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress IBA
Inferred from Biological aspect of Ancestor
more info
 
proteolysis IEA
Inferred from Electronic Annotation
more info
 
regulation of apoptotic process IEA
Inferred from Electronic Annotation
more info
 
NOT regulation of inflammatory response IBA
Inferred from Biological aspect of Ancestor
more info
 
Component Evidence Code Pubs
NOT AIM2 inflammasome complex IBA
Inferred from Biological aspect of Ancestor
more info
 
NOT IPAF inflammasome complex IBA
Inferred from Biological aspect of Ancestor
more info
 
NOT NLRP3 inflammasome complex IBA
Inferred from Biological aspect of Ancestor
more info
 
cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
 
Preferred Names
inactive caspase-12
Names
inactive caspase-12
caspase 12 pseudogene 1

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_028201.2 

    Range
    5001..17953
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001191016.2NP_001177945.2  inactive caspase-12

    See proteins identical to NP_001177945.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the protein coding transcript, encoding Arg (CGA, aa 125) at the polymorphic site instead of the premature translation termination codon (TGA). The encoded protein (also known as Csp12-L) has no protease activity; however, it is thought to modulate inflammation and innate immune response to endotoxins, and is a risk factor for developing severe sepsis.
    Source sequence(s)
    AF464191, AY358222, BG183061
    UniProtKB/Swiss-Prot
    Q6UXS9
    Related
    ENSP00000427128, OTTHUMP00000207032, ENST00000422698, OTTHUMT00000337832
    Conserved Domains (2) summary
    cd00032
    Location:103338
    Blast Score: 624
    CASc; Caspase, interleukin-1 beta converting enzyme (ICE) homologues; Cysteine-dependent aspartate-directed proteases that mediate programmed cell death (apoptosis). Caspases are synthesized as inactive zymogens and activated by proteolysis of the peptide ...
    cd08325
    Location:688
    Blast Score: 264
    CARD_CASP1-like; Caspase activation and recruitment domain found in Caspase-1 and related proteins

RNA

  1. NR_034061.2 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) encodes a translation termination codon (TGA) at the polymorphic site, resulting in a truncated protein product (known as Csp12-S), thus rendering the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AF464191, BG183061
  2. NR_034063.2 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) is missing an exon at the 3' end compared to variant 1, and encodes a translation termination codon (TGA) at the polymorphic site, resulting in a truncated protein product, thus rendering the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AF464192, BG183061
  3. NR_034064.2 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) is missing an exon at the 3' end and uses an alternate donor splice site at an internal exon compared to variant 1. It encodes a translation termination codon (TGA) at the polymorphic site, resulting in a truncated protein product, thus rendering the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AF464193, BG183061
  4. NR_034065.2 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (5) is missing an internal exon compared to variant 1, and encodes a translation termination codon (TGA) at the polymorphic site, resulting in a truncated protein product, thus rendering the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AF486846, BG183061
  5. NR_034066.2 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (6) is missing 2 internal exons compared to variant 1, and encodes a translation termination codon (TGA) at the polymorphic site, resulting in a truncated protein product, thus rendering the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AF486847, BG183061
  6. NR_034067.2 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (7) is missing 2 internal exons compared to variant 1, and encodes a translation termination codon (TGA) at the polymorphic site, resulting in a truncated protein product, thus rendering the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AF464194, BG183061
  7. NR_034068.2 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (8) is missing 3 internal exons compared to variant 1, and encodes a translation termination codon (TGA) at the polymorphic site, resulting in a truncated protein product, thus rendering the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AF464195, BG183061
  8. NR_034070.2 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (9) contains an additional internal exon compared to variant 1, resulting in a frame-shift and premature translation termination, thus rendering the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AF486844, AP002004, BG183061
  9. NR_034071.2 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (10) contains an additional internal exon and is missing another exon compared to variant 1, resulting in a frame-shift and premature translation termination, thus rendering the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AF486845, AP002004, BG183061

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 106

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

Reference GRCh38 Primary Assembly

Genomic

  1. NC_000011.10 

    Range
    104886691..104898670
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

  1. AC_000143.1 

    Range
    100688549..100700548
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.1

Genomic

  1. NC_018922.2 

    Range
    104640371..104652341
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NR_000035.2: Suppressed sequence

    Description
    NR_000035.2: This RefSeq was permanently suppressed because it is now thought that this gene does encode a protein.