Printable factfile
Gene Information
Names
HUGO name: CIAS1
Alias(es):
- AGTAVPRL
- AII/AVP
- C1orf7
- FCAS
- FCU
- MWS
- NALP3
- PYPAF1
- chromosome 1 open reading frame 7
- Cryopyrin
- PYRIN-containing APAF1-like protein 1
- Angiotensin/vasopressin receptor AII/AVP-like
Localization
Reference sequences
- DNA: AY051117 (EMBL)
- cDNA: AF410477 (EMBL)
- Protein: Q96P20 (SWISSPROT)
- Other Sequences
Chromosomal location
Maps
Variations / Mutations
Other gene-based resources
Protein Information
Description
Protein function:
May function as a potential inducer of apoptosis. Interacts selectively with apoptosis-associated specklike protein containing a card domain (asc). This complex may function as an upstream activator of NF-kappa-b signaling.
Tissue specificity:
Expressed in blood leukocytes. Strongly expressed in polymorphonulclear cells, undetectable or expressed at a lower magnitude in B and T lymphoblasts, respectively. High level of expression detected in chondrocytes. Low or no expression in the other tissues tested.
Similarity:
Contains 1 DAPIN domain.
Structures (PDB)
Domains
DAPIN domain: 1-91
NACHT domain: 218-534
Other features
Other related resourses:
- InterPro: IPR001611; LRR
- InterPro: IPR007091; LRR_RNinh
- InterPro: IPR003590; LRR_RNinh_sub
- InterPro: IPR007111; NACHT_NTPase
- InterPro: IPR004020; PAAD_DAPIN
- Pfam: PF00560; LRR_1
- Pfam: PF05729; NACHT
- Pfam: PF02758; PAAD_DAPIN
- PRINTS: PR00019; LEURICHRPT
- SMART: SM00368; LRR_RI
- PROSITE: PS50824; DAPIN
- PROSITE: PS50837; NACHT
Expression
Expression pattern for human
| Tissue | Expression (%) | Clones |
|---|---|---|
| neuroblastoma | 52.03 | 1:1205 |
| thymus | 27.88 | 1:2249 |
| pooled | 10.86 | 1:5774 |
| pancreatic islet | 4.54 | 1:13811 |
| bone_marrow | 2.07 | 1:30226 |
| testis | 1.10 | 2:113913 |
| mixed | 0.69 | 3:270774 |
| other | 0.57 | 4:442392 |
| lung | 0.26 | 1:244782 |