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Q6UXS9

- CASPC_HUMAN

UniProt

Q6UXS9 - CASPC_HUMAN

Protein

Inactive caspase-12

Gene

CASP12

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 4 out of 5- Experimental evidence at transcript leveli
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    • History
      Entry version 87 (01 Oct 2014)
      Sequence version 2 (11 Jul 2012)
      Previous versions | rss
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    Functioni

    Has no protease activity. May reduce cytokine release in response to bacterial lipopolysaccharide during infections. Reduces activation of NF-kappa-B in response to TNF.2 Publications

    Sites

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Active sitei172 – 1721Sequence Analysis
    Active sitei220 – 2201Sequence Analysis

    GO - Molecular functioni

    1. cysteine-type endopeptidase activity Source: RefGenome

    GO - Biological processi

    1. endoplasmic reticulum unfolded protein response Source: Ensembl
    2. intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress Source: RefGenome
    3. regulation of apoptotic process Source: InterPro

    Protein family/group databases

    MEROPSiC14.P01.

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Inactive caspase-12
    Short name:
    CASP-12
    Gene namesi
    Name:CASP12
    ORF Names:UNQ9415/PRO34398
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 11

    Organism-specific databases

    HGNCiHGNC:19004. CASP12.

    Subcellular locationi

    GO - Cellular componenti

    1. cytoplasm Source: RefGenome

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 341341Inactive caspase-12PRO_0000317441Add
    BLAST

    Proteomic databases

    MaxQBiQ6UXS9.
    PRIDEiQ6UXS9.

    Expressioni

    Tissue specificityi

    Detected in heart, kidney, liver, lung, pancreas, small intestine, spleen, stomach, thymus and testis.1 Publication

    Gene expression databases

    ArrayExpressiQ6UXS9.
    BgeeiQ6UXS9.
    GenevestigatoriQ6UXS9.

    Organism-specific databases

    HPAiHPA046232.

    Interactioni

    Protein-protein interaction databases

    BioGridi125680. 7 interactions.
    IntActiQ6UXS9. 1 interaction.

    Structurei

    3D structure databases

    ProteinModelPortaliQ6UXS9.
    SMRiQ6UXS9. Positions 75-341.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Domains and Repeats

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Domaini1 – 9292CARDPROSITE-ProRule annotationAdd
    BLAST

    Sequence similaritiesi

    Belongs to the peptidase C14A family.Curated
    Contains 1 CARD domain.PROSITE-ProRule annotation

    Phylogenomic databases

    HOGENOMiHOG000234399.
    HOVERGENiHBG076981.
    InParanoidiQ6UXS9.
    KOiK04741.
    OMAiGIFDDFM.
    OrthoDBiEOG7FXZZ6.
    PhylomeDBiQ6UXS9.
    TreeFamiTF102023.

    Family and domain databases

    Gene3Di1.10.533.10. 1 hit.
    3.40.50.1460. 1 hit.
    InterProiIPR001315. CARD.
    IPR029030. Caspase-like_dom.
    IPR017350. Caspase_ICE-type.
    IPR011029. DEATH-like_dom.
    IPR011600. Pept_C14_caspase.
    IPR001309. Pept_C14_ICE_p20.
    IPR016129. Pept_C14_ICE_p20_AS.
    IPR002138. Pept_C14_p10.
    IPR015917. Pept_C14A_p45_core.
    [Graphical view]
    PfamiPF00619. CARD. 1 hit.
    PF00656. Peptidase_C14. 1 hit.
    [Graphical view]
    PIRSFiPIRSF038001. Caspase_ICE. 1 hit.
    PRINTSiPR00376. IL1BCENZYME.
    SMARTiSM00115. CASc. 1 hit.
    [Graphical view]
    SUPFAMiSSF47986. SSF47986. 1 hit.
    PROSITEiPS50209. CARD. 1 hit.
    PS01122. CASPASE_CYS. 1 hit.
    PS50207. CASPASE_P10. 1 hit.
    PS50208. CASPASE_P20. 1 hit.
    [Graphical view]

    Sequences (3)i

    Sequence statusi: Complete.

    This entry describes 3 isoformsi produced by alternative splicing. Align

    Isoform 1 (identifier: Q6UXS9-1) [UniParc]FASTAAdd to Basket

    This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

    « Hide

    MADEKPSNGV LVHMVKLLIK TFLDGIFDDL MENNVLNTDE IHLIGKCLKF    50
    VVSNAENLVD DITETAQTAG KIFREHLWNS KKQLSSDISS DGEREANMPG 100
    LNIRNKEFNY LHNRNGSELD LLGMRDLLEN LGYSVVIKEN LTAQEMETAL 150
    RQFAAHPEHQ SSDSTFLVFM SHSILNGICG TKHWDQEPDV LHDDTIFEIF 200
    NNRNCQSLKD KPKVIIMQAC RGNGAGIVWF TTDSGKAGAD THGRLLQGNI 250
    CNDAVTKAHV EKDFIAFKSS TPHNVSWRHE TNGSVFISQI IYYFREYSWS 300
    HHLEEIFQKV QHSFETPNIL TQLPTIERLS MTRYFYLFPG N 341
    Length:341
    Mass (Da):38,865
    Last modified:July 11, 2012 - v2
    Checksum:i5C6C9FDFE9D9BE6B
    GO
    Isoform 2 (identifier: Q6UXS9-2) [UniParc]FASTAAdd to Basket

    Also known as: Alpha, Beta

    The sequence of this isoform differs from the canonical sequence as follows:
         87-168: DISSDGEREA...HQSSDSTFLV → AFLEIQGAQP...YLKTLDTQWL
         169-341: Missing.

    Show »
    Length:168
    Mass (Da):19,124
    Checksum:i9F3EBC2D48479556
    GO
    Isoform 3 (identifier: Q6UXS9-3) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         3-86: Missing.

    Note: No experimental confirmation available.

    Show »
    Length:257
    Mass (Da):29,399
    Checksum:iB0417E43C6041199
    GO

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti68 – 681T → I in AF464191. (PubMed:12054529)Curated
    Sequence conflicti68 – 681T → I in AF464192. (PubMed:12054529)Curated
    Sequence conflicti68 – 681T → I in AF464193. (PubMed:12054529)Curated
    Sequence conflicti68 – 681T → I in AF464194. (PubMed:12054529)Curated
    Sequence conflicti68 – 681T → I in AF486844. (PubMed:12054529)Curated
    Sequence conflicti68 – 681T → I in AF486845. (PubMed:12054529)Curated
    Sequence conflicti68 – 681T → I in AF486846. (PubMed:12054529)Curated
    Sequence conflicti68 – 681T → I in AAQ88589. (PubMed:12975309)Curated
    Sequence conflicti238 – 2381G → S in AAQ88589. (PubMed:12975309)Curated
    Isoform 2 (identifier: Q6UXS9-2)
    Sequence conflicti88 – 881F → L in AF486844. (PubMed:12054529)Curated
    Sequence conflicti88 – 881F → L in AF486845. (PubMed:12054529)Curated

    Polymorphismi

    The most frequent variant has a stop codon instead of Arg-125, giving rise to truncated forms of isoform 1 (named delta, epsilon, eta, gamma) and isoform 3 (iota, teta). The variant Arg-125 (Csp12-L) is rare, except in some populations from sub-Saharan Africa. Csp12-L may increase the susceptibility to severe sepsis, and may also increase the mortality rate in sepsis patients.

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei3 – 8684Missing in isoform 3. 1 PublicationVSP_030953Add
    BLAST
    Alternative sequencei87 – 16882DISSD…STFLV → AFLEIQGAQPSGKLKLCPHA HFHELKTKRADEIYPVMEKE RRTCLASTSATKNSTIFIIE MVLNLTFWGCEIYLKTLDTQ WL in isoform 2. 1 PublicationVSP_030954Add
    BLAST
    Alternative sequencei169 – 341173Missing in isoform 2. 1 PublicationVSP_030955Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF464191 mRNA. No translation available.
    AF464192 mRNA. No translation available.
    AF464193 mRNA. No translation available.
    AF464194 mRNA. No translation available.
    AF464195 mRNA. No translation available.
    AF486844 mRNA. No translation available.
    AF486845 mRNA. No translation available.
    AF486846 mRNA. No translation available.
    AF486847 mRNA. No translation available.
    AY358222 mRNA. Translation: AAQ88589.1.
    CCDSiCCDS55785.1. [Q6UXS9-1]
    RefSeqiNP_001177945.2. NM_001191016.2.
    UniGeneiHs.476989.

    Genome annotation databases

    EnsembliENST00000375726; ENSP00000424038; ENSG00000204403. [Q6UXS9-1]
    ENST00000417998; ENSP00000424963; ENSG00000204403. [Q6UXS9-2]
    ENST00000422698; ENSP00000427128; ENSG00000204403. [Q6UXS9-1]
    ENST00000458137; ENSP00000421408; ENSG00000204403. [Q6UXS9-2]
    ENST00000508062; ENSP00000426566; ENSG00000204403. [Q6UXS9-3]
    GeneIDi100506742.
    KEGGihsa:100506742.
    UCSCiuc031qdo.1. human. [Q6UXS9-1]

    Polymorphism databases

    DMDMi395398427.

    Keywords - Coding sequence diversityi

    Alternative splicing

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF464191 mRNA. No translation available.
    AF464192 mRNA. No translation available.
    AF464193 mRNA. No translation available.
    AF464194 mRNA. No translation available.
    AF464195 mRNA. No translation available.
    AF486844 mRNA. No translation available.
    AF486845 mRNA. No translation available.
    AF486846 mRNA. No translation available.
    AF486847 mRNA. No translation available.
    AY358222 mRNA. Translation: AAQ88589.1 .
    CCDSi CCDS55785.1. [Q6UXS9-1 ]
    RefSeqi NP_001177945.2. NM_001191016.2.
    UniGenei Hs.476989.

    3D structure databases

    ProteinModelPortali Q6UXS9.
    SMRi Q6UXS9. Positions 75-341.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 125680. 7 interactions.
    IntActi Q6UXS9. 1 interaction.

    Protein family/group databases

    MEROPSi C14.P01.

    Polymorphism databases

    DMDMi 395398427.

    Proteomic databases

    MaxQBi Q6UXS9.
    PRIDEi Q6UXS9.

    Protocols and materials databases

    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000375726 ; ENSP00000424038 ; ENSG00000204403 . [Q6UXS9-1 ]
    ENST00000417998 ; ENSP00000424963 ; ENSG00000204403 . [Q6UXS9-2 ]
    ENST00000422698 ; ENSP00000427128 ; ENSG00000204403 . [Q6UXS9-1 ]
    ENST00000458137 ; ENSP00000421408 ; ENSG00000204403 . [Q6UXS9-2 ]
    ENST00000508062 ; ENSP00000426566 ; ENSG00000204403 . [Q6UXS9-3 ]
    GeneIDi 100506742.
    KEGGi hsa:100506742.
    UCSCi uc031qdo.1. human. [Q6UXS9-1 ]

    Organism-specific databases

    CTDi 100506742.
    GeneCardsi GC11M104757.
    H-InvDB HIX0035901.
    HGNCi HGNC:19004. CASP12.
    HPAi HPA046232.
    MIMi 608633. gene.
    neXtProti NX_Q6UXS9.
    GenAtlasi Search...

    Phylogenomic databases

    HOGENOMi HOG000234399.
    HOVERGENi HBG076981.
    InParanoidi Q6UXS9.
    KOi K04741.
    OMAi GIFDDFM.
    OrthoDBi EOG7FXZZ6.
    PhylomeDBi Q6UXS9.
    TreeFami TF102023.

    Miscellaneous databases

    NextBioi 34054392.
    PROi Q6UXS9.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi Q6UXS9.
    Bgeei Q6UXS9.
    Genevestigatori Q6UXS9.

    Family and domain databases

    Gene3Di 1.10.533.10. 1 hit.
    3.40.50.1460. 1 hit.
    InterProi IPR001315. CARD.
    IPR029030. Caspase-like_dom.
    IPR017350. Caspase_ICE-type.
    IPR011029. DEATH-like_dom.
    IPR011600. Pept_C14_caspase.
    IPR001309. Pept_C14_ICE_p20.
    IPR016129. Pept_C14_ICE_p20_AS.
    IPR002138. Pept_C14_p10.
    IPR015917. Pept_C14A_p45_core.
    [Graphical view ]
    Pfami PF00619. CARD. 1 hit.
    PF00656. Peptidase_C14. 1 hit.
    [Graphical view ]
    PIRSFi PIRSF038001. Caspase_ICE. 1 hit.
    PRINTSi PR00376. IL1BCENZYME.
    SMARTi SM00115. CASc. 1 hit.
    [Graphical view ]
    SUPFAMi SSF47986. SSF47986. 1 hit.
    PROSITEi PS50209. CARD. 1 hit.
    PS01122. CASPASE_CYS. 1 hit.
    PS50207. CASPASE_P10. 1 hit.
    PS50208. CASPASE_P20. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 1; 2 AND 3), FUNCTION, POLYMORPHISM, TISSUE SPECIFICITY.
      Tissue: Lung.
    2. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
    3. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    4. Cited for: POLYMORPHISM, FUNCTION.
    5. "Population distribution of the functional caspase-12 allele."
      Kachapati K., O'Brien T.R., Bergeron J., Zhang M., Dean M.
      Hum. Mutat. 27:975-975(2006) [PubMed] [Europe PMC] [Abstract]
      Cited for: POLYMORPHISM.
    6. "Spread of an inactive form of caspase-12 in humans is due to recent positive selection."
      Xue Y., Daly A., Yngvadottir B., Liu M., Coop G., Kim Y., Sabeti P., Chen Y., Stalker J., Huckle E., Burton J., Leonard S., Rogers J., Tyler-Smith C.
      Am. J. Hum. Genet. 78:659-670(2006) [PubMed] [Europe PMC] [Abstract]
      Cited for: POLYMORPHISM.

    Entry informationi

    Entry nameiCASPC_HUMAN
    AccessioniPrimary (citable) accession number: Q6UXS9
    Secondary accession number(s): D6RBN7
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: February 5, 2008
    Last sequence update: July 11, 2012
    Last modified: October 1, 2014
    This is version 87 of the entry and version 2 of the sequence. [Complete history]
    Entry statusiReviewed (UniProtKB/Swiss-Prot)
    Annotation programChordata Protein Annotation Program
    DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

    Miscellaneousi

    Keywords - Technical termi

    Complete proteome, Reference proteome

    Documents

    1. Human chromosome 11
      Human chromosome 11: entries, gene names and cross-references to MIM
    2. MIM cross-references
      Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
    3. Peptidase families
      Classification of peptidase families and list of entries
    4. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3