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Q6UXS9 (CASPC_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified June 11, 2014. Version 85. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (4) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Inactive caspase-12

Short name=CASP-12
Gene names
Name:CASP12
ORF Names:UNQ9415/PRO34398
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length341 AA.
Sequence statusComplete.
Protein existenceEvidence at transcript level

General annotation (Comments)

Function

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. Ref.1 Ref.4

Tissue specificity

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

Polymorphism

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.

Sequence similarities

Belongs to the peptidase C14A family.

Contains 1 CARD domain.

Alternative products

This entry describes 3 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: Q6UXS9-1)

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.
Isoform 2 (identifier: Q6UXS9-2)

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.
Isoform 3 (identifier: Q6UXS9-3)

The sequence of this isoform differs from the canonical sequence as follows:
     3-86: Missing.
Note: No experimental confirmation available.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 341341Inactive caspase-12
PRO_0000317441

Regions

Domain1 – 9292CARD

Sites

Active site1721 Potential
Active site2201 Potential

Natural variations

Alternative sequence3 – 8684Missing in isoform 3.
VSP_030953
Alternative sequence87 – 16882DISSD…STFLV → AFLEIQGAQPSGKLKLCPHA HFHELKTKRADEIYPVMEKE RRTCLASTSATKNSTIFIIE MVLNLTFWGCEIYLKTLDTQ WL in isoform 2.
VSP_030954
Alternative sequence169 – 341173Missing in isoform 2.
VSP_030955

Experimental info

Sequence conflict681T → I in AF464191. Ref.1
Sequence conflict681T → I in AF464192. Ref.1
Sequence conflict681T → I in AF464193. Ref.1
Sequence conflict681T → I in AF464194. Ref.1
Sequence conflict681T → I in AF486844. Ref.1
Sequence conflict681T → I in AF486845. Ref.1
Sequence conflict681T → I in AF486846. Ref.1
Sequence conflict681T → I in AAQ88589. Ref.2
Sequence conflict2381G → S in AAQ88589. Ref.2
Isoform 2:
Sequence conflict881F → L in AF486844. Ref.1
Sequence conflict881F → L in AF486845. Ref.1

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 [UniParc].

Last modified July 11, 2012. Version 2.
Checksum: 5C6C9FDFE9D9BE6B

FASTA34138,865
        10         20         30         40         50         60 
MADEKPSNGV LVHMVKLLIK TFLDGIFDDL MENNVLNTDE IHLIGKCLKF VVSNAENLVD 

        70         80         90        100        110        120 
DITETAQTAG KIFREHLWNS KKQLSSDISS DGEREANMPG LNIRNKEFNY LHNRNGSELD 

       130        140        150        160        170        180 
LLGMRDLLEN LGYSVVIKEN LTAQEMETAL RQFAAHPEHQ SSDSTFLVFM SHSILNGICG 

       190        200        210        220        230        240 
TKHWDQEPDV LHDDTIFEIF NNRNCQSLKD KPKVIIMQAC RGNGAGIVWF TTDSGKAGAD 

       250        260        270        280        290        300 
THGRLLQGNI CNDAVTKAHV EKDFIAFKSS TPHNVSWRHE TNGSVFISQI IYYFREYSWS 

       310        320        330        340 
HHLEEIFQKV QHSFETPNIL TQLPTIERLS MTRYFYLFPG N 

« Hide

Isoform 2 (Alpha) (Beta) [UniParc].

Checksum: 9F3EBC2D48479556
Show »

FASTA16819,124
Isoform 3 [UniParc].

Checksum: B0417E43C6041199
Show »

FASTA25729,399

References

« Hide 'large scale' references
[1]"Human caspase 12 has acquired deleterious mutations."
Fischer H., Koenig U., Eckhart L., Tschachler E.
Biochem. Biophys. Res. Commun. 293:722-726(2002) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 1; 2 AND 3), FUNCTION, POLYMORPHISM, TISSUE SPECIFICITY.
Tissue: Lung.
[2]"The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment."
Clark H.F., Gurney A.L., Abaya E., Baker K., Baldwin D.T., Brush J., Chen J., Chow B., Chui C., Crowley C., Currell B., Deuel B., Dowd P., Eaton D., Foster J.S., Grimaldi C., Gu Q., Hass P.E. expand/collapse author list , Heldens S., Huang A., Kim H.S., Klimowski L., Jin Y., Johnson S., Lee J., Lewis L., Liao D., Mark M.R., Robbie E., Sanchez C., Schoenfeld J., Seshagiri S., Simmons L., Singh J., Smith V., Stinson J., Vagts A., Vandlen R.L., Watanabe C., Wieand D., Woods K., Xie M.-H., Yansura D.G., Yi S., Yu G., Yuan J., Zhang M., Zhang Z., Goddard A.D., Wood W.I., Godowski P.J., Gray A.M.
Genome Res. 13:2265-2270(2003) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
[3]"Human chromosome 11 DNA sequence and analysis including novel gene identification."
Taylor T.D., Noguchi H., Totoki Y., Toyoda A., Kuroki Y., Dewar K., Lloyd C., Itoh T., Takeda T., Kim D.-W., She X., Barlow K.F., Bloom T., Bruford E., Chang J.L., Cuomo C.A., Eichler E., FitzGerald M.G. expand/collapse author list , Jaffe D.B., LaButti K., Nicol R., Park H.-S., Seaman C., Sougnez C., Yang X., Zimmer A.R., Zody M.C., Birren B.W., Nusbaum C., Fujiyama A., Hattori M., Rogers J., Lander E.S., Sakaki Y.
Nature 440:497-500(2006) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[4]"Differential modulation of endotoxin responsiveness by human caspase-12 polymorphisms."
Saleh M., Vaillancourt J.P., Graham R.K., Huyck M., Srinivasula S.M., Alnemri E.S., Steinberg M.H., Nolan V., Baldwin C.T., Hotchkiss R.S., Buchman T.G., Zehnbauer B.A., Hayden M.R., Farrer L.A., Roy S., Nicholson D.W.
Nature 429:75-79(2004) [PubMed] [Europe PMC] [Abstract]
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.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
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.
RefSeqNP_001177945.2. NM_001191016.2. [Q6UXS9-1]
UniGeneHs.476989.

3D structure databases

ProteinModelPortalQ6UXS9.
SMRQ6UXS9. Positions 75-341.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid125680. 7 interactions.
IntActQ6UXS9. 1 interaction.

Protein family/group databases

MEROPSC14.P01.

Polymorphism databases

DMDM395398427.

Proteomic databases

MaxQBQ6UXS9.
PRIDEQ6UXS9.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000375726; ENSP00000424038; ENSG00000204403. [Q6UXS9-1]
ENST00000417998; ENSP00000424963; ENSG00000204403. [Q6UXS9-2]
ENST00000422698; ENSP00000427128; ENSG00000204403. [Q6UXS9-1]
ENST00000458137; ENSP00000421408; ENSG00000204403. [Q6UXS9-2]
ENST00000508062; ENSP00000426566; ENSG00000204403. [Q6UXS9-3]
GeneID100506742.
KEGGhsa:100506742.
UCSCuc031qdo.1. human. [Q6UXS9-1]

Organism-specific databases

CTD100506742.
GeneCardsGC11M104757.
H-InvDBHIX0035901.
HGNCHGNC:19004. CASP12.
HPAHPA046232.
MIM608633. gene.
neXtProtNX_Q6UXS9.
GenAtlasSearch...

Phylogenomic databases

HOGENOMHOG000234399.
HOVERGENHBG076981.
InParanoidQ6UXS9.
KOK04741.
OMAGIFDDFM.
OrthoDBEOG7FXZZ6.
PhylomeDBQ6UXS9.
TreeFamTF102023.

Gene expression databases

ArrayExpressQ6UXS9.
BgeeQ6UXS9.
GenevestigatorQ6UXS9.

Family and domain databases

Gene3D1.10.533.10. 1 hit.
3.40.50.1460. 1 hit.
InterProIPR001315. 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]
PfamPF00619. CARD. 1 hit.
PF00656. Peptidase_C14. 1 hit.
[Graphical view]
PIRSFPIRSF038001. Caspase_ICE. 1 hit.
PRINTSPR00376. IL1BCENZYME.
SMARTSM00115. CASc. 1 hit.
[Graphical view]
SUPFAMSSF47986. SSF47986. 1 hit.
PROSITEPS50209. CARD. 1 hit.
PS01122. CASPASE_CYS. 1 hit.
PS50207. CASPASE_P10. 1 hit.
PS50208. CASPASE_P20. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

NextBio34054392.
PROQ6UXS9.
SOURCESearch...

Entry information

Entry nameCASPC_HUMAN
AccessionPrimary (citable) accession number: Q6UXS9
Secondary accession number(s): D6RBN7
Entry history
Integrated into UniProtKB/Swiss-Prot: February 5, 2008
Last sequence update: July 11, 2012
Last modified: June 11, 2014
This is version 85 of the entry and version 2 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

Peptidase families

Classification of peptidase families and list of entries

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human chromosome 11

Human chromosome 11: entries, gene names and cross-references to MIM