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Q6UXS9

- CASPC_HUMAN

UniProt

Q6UXS9 - CASPC_HUMAN

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Protein

Inactive caspase-12

Gene

CASP12

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 4 out of 5- Experimental evidence at transcript leveli

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
Complete GO annotation...

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
Complete GO annotation...

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

BgeeiQ6UXS9.
GenevestigatoriQ6UXS9.

Organism-specific databases

HPAiHPA046232.

Interactioni

Protein-protein interaction databases

BioGridi125680. 9 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

        10         20         30         40         50
MADEKPSNGV LVHMVKLLIK TFLDGIFDDL MENNVLNTDE IHLIGKCLKF
60 70 80 90 100
VVSNAENLVD DITETAQTAG KIFREHLWNS KKQLSSDISS DGEREANMPG
110 120 130 140 150
LNIRNKEFNY LHNRNGSELD LLGMRDLLEN LGYSVVIKEN LTAQEMETAL
160 170 180 190 200
RQFAAHPEHQ SSDSTFLVFM SHSILNGICG TKHWDQEPDV LHDDTIFEIF
210 220 230 240 250
NNRNCQSLKD KPKVIIMQAC RGNGAGIVWF TTDSGKAGAD THGRLLQGNI
260 270 280 290 300
CNDAVTKAHV EKDFIAFKSS TPHNVSWRHE TNGSVFISQI IYYFREYSWS
310 320 330 340
HHLEEIFQKV QHSFETPNIL TQLPTIERLS MTRYFYLFPG N
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.
RefSeqiNP_001177945.2. NM_001191016.2.
UniGeneiHs.476989.

Genome annotation databases

EnsembliENST00000375726; ENSP00000424038; ENSG00000204403.
ENST00000417998; ENSP00000424963; ENSG00000204403.
ENST00000422698; ENSP00000427128; ENSG00000204403.
ENST00000458137; ENSP00000421408; ENSG00000204403.
ENST00000508062; ENSP00000426566; ENSG00000204403.
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 .
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. 9 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 .
ENST00000417998 ; ENSP00000424963 ; ENSG00000204403 .
ENST00000422698 ; ENSP00000427128 ; ENSG00000204403 .
ENST00000458137 ; ENSP00000421408 ; ENSG00000204403 .
ENST00000508062 ; ENSP00000426566 ; ENSG00000204403 .
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

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

« Hide 'large scale' publications
  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 29, 2014
This is version 88 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