Gene
|
Entrez ID
Entrez Gene ID - the GENE ID in NCBI Gene database.
|
834 |
Gene nameGene Name - the full gene name approved by the HGNC.
|
Caspase 1 |
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
|
CASP1 |
SynonymsGene synonyms aliases
|
ICE, IL1BC, P45 |
ChromosomeChromosome number
|
11 |
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
|
11q22.3 |
SummarySummary of gene provided in NCBI Entrez Gene.
|
This gene encodes a protein which is a member of the cysteine-aspartic acid protease (caspase) family. Sequential activation of caspases plays a central role in the execution-phase of cell apoptosis. Caspases exist as inactive proenzymes which undergo pro |
miRNAmiRNA information provided by mirtarbase database.
|
|
Transcription factors
|
Transcription factor |
Regulation |
Reference |
ETS1 |
Activation |
16103071 |
TP53 |
Unknown |
11278253 |
|
Gene ontology (GO)Gene ontology information of associated ontologies with gene provided by GO database.
|
GO ID |
Ontology |
Definition |
Evidence |
Reference |
GO:0001666 |
Process |
Response to hypoxia |
IEA |
|
GO:0004175 |
Function |
Endopeptidase activity |
IDA |
24548080 |
GO:0004197 |
Function |
Cysteine-type endopeptidase activity |
IDA |
11821383, 16920334, 32109412, 32553275 |
GO:0004197 |
Function |
Cysteine-type endopeptidase activity |
IGI |
15882992 |
GO:0005515 |
Function |
Protein binding |
IPI |
11374873, 11390368, 11432859, 11536016, 12888622, 15030775, 15107016, 15383541, 15817483, 15882992, 16575408, 16785446, 17360653, 17418785, 18329368, 18511561, 24630722, 25416956, 25605870, 27043298, 29892012, 30692621 |
GO:0005576 |
Component |
Extracellular region |
IEA |
|
GO:0005737 |
Component |
Cytoplasm |
IBA |
21873635 |
GO:0005739 |
Component |
Mitochondrion |
IEA |
|
GO:0005829 |
Component |
Cytosol |
TAS |
|
GO:0005886 |
Component |
Plasma membrane |
IEA |
|
GO:0006508 |
Process |
Proteolysis |
IDA |
12888622, 24548080 |
GO:0006915 |
Process |
Apoptotic process |
IBA |
21873635 |
GO:0006919 |
Process |
Activation of cysteine-type endopeptidase activity involved in apoptotic process |
IBA |
21873635 |
GO:0007165 |
Process |
Signal transduction |
TAS |
1373520 |
GO:0008656 |
Function |
Cysteine-type endopeptidase activator activity involved in apoptotic process |
TAS |
10799503 |
GO:0010506 |
Process |
Regulation of autophagy |
IEA |
|
GO:0016540 |
Process |
Protein autoprocessing |
IDA |
11821383, 32109412 |
GO:0019221 |
Process |
Cytokine-mediated signaling pathway |
TAS |
|
GO:0019900 |
Function |
Kinase binding |
IPI |
11432859, 11536016, 15383541 |
GO:0032611 |
Process |
Interleukin-1 beta production |
IGI |
15882992 |
GO:0032730 |
Process |
Positive regulation of interleukin-1 alpha production |
IEA |
|
GO:0032731 |
Process |
Positive regulation of interleukin-1 beta production |
IDA |
11432859, 11821383 |
GO:0032731 |
Process |
Positive regulation of interleukin-1 beta production |
IMP |
11536016, 22267217 |
GO:0032991 |
Component |
Protein-containing complex |
IDA |
16920334 |
GO:0032991 |
Component |
Protein-containing complex |
IMP |
11536016, 11821383, 15383541 |
GO:0033198 |
Process |
Response to ATP |
IEA |
|
GO:0042802 |
Function |
Identical protein binding |
IMP |
11432859 |
GO:0042802 |
Function |
Identical protein binding |
IPI |
24630722, 27043298 |
GO:0042981 |
Process |
Regulation of apoptotic process |
TAS |
|
GO:0043123 |
Process |
Positive regulation of I-kappaB kinase/NF-kappaB signaling |
IEP |
12761501 |
GO:0043123 |
Process |
Positive regulation of I-kappaB kinase/NF-kappaB signaling |
IMP |
15383541 |
GO:0043280 |
Process |
Positive regulation of cysteine-type endopeptidase activity involved in apoptotic process |
IMP |
16920334 |
GO:0050700 |
Function |
CARD domain binding |
IPI |
11821383, 16920334 |
GO:0050727 |
Process |
Regulation of inflammatory response |
IBA |
21873635 |
GO:0050727 |
Process |
Regulation of inflammatory response |
IDA |
32109412, 32553275 |
GO:0051882 |
Process |
Mitochondrial depolarization |
IEA |
|
GO:0060081 |
Process |
Membrane hyperpolarization |
IEA |
|
GO:0070269 |
Process |
Pyroptosis |
IDA |
32109412, 32553275 |
GO:0071222 |
Process |
Cellular response to lipopolysaccharide |
IMP |
11536016 |
GO:0071260 |
Process |
Cellular response to mechanical stimulus |
IEP |
19593445 |
GO:0071310 |
Process |
Cellular response to organic substance |
IDA |
19158679 |
GO:0071345 |
Process |
Cellular response to cytokine stimulus |
TAS |
|
GO:0071346 |
Process |
Cellular response to interferon-gamma |
IMP |
11536016 |
GO:0072557 |
Component |
IPAF inflammasome complex |
IBA |
21873635 |
GO:0072557 |
Component |
IPAF inflammasome complex |
ISS |
|
GO:0072558 |
Component |
NLRP1 inflammasome complex |
IDA |
12191486 |
GO:0072559 |
Component |
NLRP3 inflammasome complex |
IBA |
21873635 |
GO:0072559 |
Component |
NLRP3 inflammasome complex |
IDA |
15030775 |
GO:0097153 |
Function |
Cysteine-type endopeptidase activity involved in apoptotic process |
IBA |
21873635 |
GO:0097169 |
Component |
AIM2 inflammasome complex |
IBA |
21873635 |
GO:0097169 |
Component |
AIM2 inflammasome complex |
IDA |
19158676 |
GO:0097179 |
Component |
Protease inhibitor complex |
IMP |
11432859 |
GO:0097190 |
Process |
Apoptotic signaling pathway |
IEA |
|
GO:0097194 |
Process |
Execution phase of apoptosis |
IEA |
|
GO:0097199 |
Function |
Cysteine-type endopeptidase activity involved in apoptotic signaling pathway |
IBA |
21873635 |
GO:0097200 |
Function |
Cysteine-type endopeptidase activity involved in execution phase of apoptosis |
IBA |
21873635 |
GO:0097300 |
Process |
Programmed necrotic cell death |
IEA |
|
GO:0140448 |
Process |
Signaling receptor ligand precursor processing |
IGI |
15882992 |
GO:1901998 |
Process |
Toxin transport |
IEA |
|
GO:1903265 |
Process |
Positive regulation of tumor necrosis factor-mediated signaling pathway |
IMP |
16920334 |
|
Other IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
|
|
Protein
|
UniProt ID |
P29466 |
Protein name |
Caspase-1 (CASP-1) (EC 3.4.22.36) (Interleukin-1 beta convertase) (IL-1BC) (Interleukin-1 beta-converting enzyme) (ICE) (IL-1 beta-converting enzyme) (p45) [Cleaved into: Caspase-1 subunit p20; Caspase-1 subunit p10] |
Protein function |
Thiol protease involved in a variety of inflammatory processes by proteolytically cleaving other proteins, such as the precursors of the inflammatory cytokines interleukin-1 beta (IL1B) and interleukin 18 (IL18) as well as the pyroptosis inducer |
PDB |
1BMQ
,
1IBC
,
1ICE
,
1RWK
,
1RWM
,
1RWN
,
1RWO
,
1RWP
,
1RWV
,
1RWW
,
1RWX
,
1SC1
,
1SC3
,
1SC4
,
2FQQ
,
2H48
,
2H4W
,
2H4Y
,
2H51
,
2H54
,
2HBQ
,
2HBR
,
2HBY
,
2HBZ
,
3D6F
,
3D6H
,
3D6M
,
3E4C
,
3NS7
,
5FNA
,
5MMV
,
5MTK
,
6BZ9
,
6F6R
,
6KN0
,
6PZP
,
6VIE
,
7KEU
,
8SV1
,
8WRA
|
Family and domains |
Pfam
Accession |
ID |
Position in sequence |
Description |
Type |
PF00619 |
CARD |
3 → 90 |
Caspase recruitment domain |
Domain |
PF00656 |
Peptidase_C14 |
163 → 400 |
|
Domain |
|
Sequence |
|
Sequence length |
404 |
Interactions |
View interactions |
PathwaysPathway information has different metabolic/signaling pathways associated with genes. Each record is hyperlinked to a complete information page which also includes links to the KEGG/Reactome pathway database.
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|
Associated diseases
|
Causal |
Disease name |
Disease term |
dbSNP ID |
References |
Amyotrophic lateral sclerosis |
Amyotrophic Lateral Sclerosis, Familial |
rs267607084, rs312262720, rs312262752, rs121908287, rs121908288, rs29001584, rs28941475, rs121434378, rs386134173, rs386134174, rs80356730, rs80356727, rs4884357, rs80356717, rs80356733, rs80356731, rs80356726, rs267606928, rs267606929, rs1885090126, rs121434591, rs121912431, rs121912432, rs121912433, rs121912434, rs121912435, rs121912440, rs121912436, rs121912437, rs121912438, rs121912439, rs74315452, rs121912442, rs121912443, rs121912444, rs121912446, rs121912447, rs1197141604, rs121912448, rs121912449, rs121912450, rs121912451, rs121912452, rs121912453, rs121912454, rs369600566, rs121912455, rs121912456, rs121912457, rs121912458, rs1555836889, rs121909667, rs121909668, rs121909669, rs121909671, rs121909535, rs121909537, rs121909538, rs121909539, rs121909540, rs121909542, rs121909544, rs80356734, rs367543041, rs80356740, rs80356719, rs80356721, rs80356723, rs80356725, rs387906627, rs387906628, rs387906709, rs387906710, rs387906711, rs387906829, rs387907264, rs387907265, rs387907266, rs312262739, rs312262709, rs312262749, rs200793464, rs147713329, rs312262788, rs397514262, rs63751180, rs587777132, rs730880025, rs730880026, rs730880027, rs368743618, rs730880029, rs730882255, rs730882256, rs786205611, rs121912441, rs199947197, rs780136067, rs772731615, rs879253926, rs879254294, rs764717219, rs886041390, rs750159428, rs753207473, rs267607087, rs767350733, rs778305085, rs1554707680, rs1554707622, rs1393363759, rs750959420, rs1555509569, rs1554716504, rs11556620, rs1247392012, rs142083484, rs140385286, rs749428135, rs371575563, rs1402429085, rs1218712729, rs1555179091, rs1555179087, rs746971952, rs1555836950, rs368276916, rs140376902, rs747220413, rs76731700, rs770684782, rs1200906022, rs1804449, rs1482760341, rs769898852, rs140599944, rs757972700, rs1555451521, rs1592362719, rs1555836803, rs763455928, rs1378590183, rs1583695322, rs1362178149, rs1197928094, rs368751524, rs1555509609, rs1574787779, rs1601157750, rs1301635320, rs1341055534, rs1402092579, rs1568809172, rs1555836170, rs1315541036, rs1339283341, rs1643659556, rs1644506661, rs1435710212, rs1553122918, rs1689580631, rs374047961, rs775935265, rs2076486420, rs1820836522, rs757260058, rs1844420892, rs1833371664, rs1833438306, rs1833451208, rs2083790483, rs1303294230, rs1226110412, rs2053207945, rs2053208751, rs2053501632, rs2053539304, rs1567479067, rs544088874, rs1228194239, rs1568807400, rs1169198442, rs2049594204, rs2049594311, rs1568810641, rs1568811372, rs2049618449, rs1476760624, rs2079347087 |
11796754 |
Hyperhomocysteinemia |
Hyperhomocysteinemia |
rs121964962, rs121964963, rs121964964, rs5742905, rs121964966, rs121964967, rs121964968, rs121964969, rs28934891, rs375846341, rs121964972, rs121964973, rs398123151, rs786204466, rs786204679, rs763036586, rs771298943, rs758236584, rs775351239, rs764160782, rs770095972, rs760214620, rs786204757, rs794727083, rs781444670, rs149119723, rs769080151, rs372010465, rs777919630, rs863223432, rs863223430, rs773734233, rs762065361, rs775992753, rs778220779, rs863223435, rs199948079, rs148865119, rs779250698, rs886057100, rs1057516895, rs760417941, rs781567152, rs1057517373, rs766453711, rs763835246, rs755952006, rs1057517083, rs1057516256, rs751464024, rs748695461, rs757920190, rs1064794540, rs1064793703, rs377708532, rs528689432, rs757428597, rs1361324844, rs1347651454, rs1555871188, rs143124288, rs760609383, rs755625628, rs1555876784, rs1555869958, rs1555869979, rs1434118781, rs1555874121, rs763290176, rs1555874803, rs1555875292, rs865990681, rs1000697114, rs1568932835, rs1234354755, rs1170128038, rs1601339216, rs1981524462, rs376916741, rs373782713, rs1983442077 |
22647887 |
Kidney disease |
Kidney Diseases |
rs74315342, rs749740335, rs757649673, rs112417755, rs35138315 |
22647887 |
Lateral sclerosis |
AMYOTROPHIC LATERAL SCLEROSIS 1, Amyotrophic Lateral Sclerosis, Sporadic |
rs386134181, rs386134176, rs386134174, rs386134184, rs386134178, rs1693780539, rs1574698048 |
11796754 |
Multiple sclerosis |
Multiple Sclerosis, Multiple Sclerosis, Acute Fulminating |
rs104895219, rs483353022, rs483353023, rs483353028, rs483353029, rs483353024, rs483353030, rs3207617, rs483353031, rs483353032, rs483353033, rs483353034, rs483353035, rs483353036, rs483353039, rs483353038, rs61731956, rs568165874, rs767480544 |
25458313 |
Obesity |
Obesity |
rs34911341, rs74315349, rs1474810899, rs2282440, rs2491132, rs121918111, rs796065034, rs753856820, rs796065035, rs121918112, rs104894023, rs137852821, rs1580764441, rs137852822, rs137852823, rs137852824, rs13447324, rs121913562, rs121913564, rs74315393, rs121913556, rs2989924, rs193922650, rs193922685, rs193922687, rs751160202, rs1421085, rs747681609, rs1553400259, rs13447339, rs370479598, rs1554394014, rs1553174844, rs756232889, rs369841551, rs1557670950, rs1571321748, rs148538980, rs1572820988, rs1591461970, rs1419374563, rs745921568, rs144159890, rs1570714352, rs779783209, rs1573250294, rs1573254045, rs1580744791, rs1580746829, rs6548238, rs7138803, rs7754840 |
22325453 |
|
Unknown |
Disease name |
Disease term |
dbSNP ID |
References |
Grand mal status epilepticus |
Grand Mal Status Epilepticus |
|
18571097 |
Nonconvulsive status epilepticus |
Non-Convulsive Status Epilepticus |
|
18571097 |
Petit mal status |
Petit mal status |
|
18571097 |
Status epilepticus |
Status Epilepticus, Complex Partial Status Epilepticus, Status Epilepticus, Subclinical |
|
18571097 |
|
|
|