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Protein

Inactive caspase-12

Gene

CASP12

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: 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

GO - Biological processi

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 Componenti: Chromosome 11

Organism-specific databases

HGNCiHGNC:19004. CASP12.

Subcellular locationi

GO - Cellular componenti

  • cytoplasm Source: GO_Central
  • endoplasmic reticulum Source: ParkinsonsUK-UCL
Complete GO annotation...

Pathology & Biotechi

Polymorphism and mutation databases

BioMutaiCASP12.
DMDMi395398427.

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.
GenevisibleiQ6UXS9. HS.

Organism-specific databases

HPAiHPA046232.

Interactioni

Protein-protein interaction databases

BioGridi125680. 9 interactions.
IntActiQ6UXS9. 1 interaction.
STRINGi9606.ENSP00000424038.

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.
OMAiSWSHHLE.
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.
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]
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. AlignAdd to basket

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:
EMBLi
GenBanki
DDBJi
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]

Keywords - Coding sequence diversityi

Alternative splicing

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
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.

3D structure databases

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

Protein-protein interaction databases

BioGridi125680. 9 interactions.
IntActiQ6UXS9. 1 interaction.
STRINGi9606.ENSP00000424038.

Protein family/group databases

MEROPSiC14.P01.

Polymorphism and mutation databases

BioMutaiCASP12.
DMDMi395398427.

Proteomic databases

MaxQBiQ6UXS9.
PRIDEiQ6UXS9.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

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]

Organism-specific databases

CTDi100506742.
GeneCardsiGC11M104757.
H-InvDBHIX0035901.
HGNCiHGNC:19004. CASP12.
HPAiHPA046232.
MIMi608633. gene.
neXtProtiNX_Q6UXS9.
GenAtlasiSearch...

Phylogenomic databases

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

Miscellaneous databases

ChiTaRSiCASP12. human.
NextBioi34054392.
PROiQ6UXS9.
SOURCEiSearch...

Gene expression databases

BgeeiQ6UXS9.
GenevisibleiQ6UXS9. HS.

Family and domain databases

Gene3Di1.10.533.10. 1 hit.
3.40.50.1460. 1 hit.
InterProiIPR001315. CARD.
IPR029030. Caspase-like_dom.
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]
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]
ProtoNetiSearch...

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: June 24, 2015
This is version 94 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

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into Uniref entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.