Conserved Protein Domain Family
C2_C2cd3

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cd08683: C2_C2cd3 
C2 domain found in C2 calcium-dependent domain containing 3 (C2cd3) proteins
C2cd3 is a novel C2 domain-containing protein specific to vertebrates. C2cd3 functions in regulator of cilia formation, Hedgehog signaling, and mouse embryonic development. Mutations in C2cd3 mice resulted in lethality in some cases and exencephaly, a twisted body axis, and pericardial edema in others. The presence of calcium-dependent lipid-binding domains in C2cd3 suggests a potential role in vesicular transport. C2cd3 is also an interesting candidate for ciliopathy because of its orthology to certain cilia-related genetic disease loci on chromosome. The C2 domain was first identified in PKC. C2 domains fold into an 8-standed beta-sandwich that can adopt 2 structural arrangements: Type I and Type II, distinguished by a circular permutation involving their N- and C-terminal beta strands. Many C2 domains are Ca2+-dependent membrane-targeting modules that bind a wide variety of substances including bind phospholipids, inositol polyphosphates, and intracellular proteins. Most C2 domain proteins are either signal transduction enzymes that contain a single C2 domain, such as protein kinase C, or membrane trafficking proteins which contain at least two C2 domains, such as synaptotagmin 1. However, there are a few exceptions to this including RIM isoforms and some splice variants of piccolo/aczonin and intersectin which only have a single C2 domain. C2 domains with a calcium binding region have negatively charged residues, primarily aspartates, that serve as ligands for calcium ions.
Statistics
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PSSM-Id: 176065
View PSSM: cd08683
Aligned: 7 rows
Threshold Bit Score: 211.13
Threshold Setting Gi: 169146299
Created: 24-Mar-2010
Updated: 2-Oct-2020
Structure
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Aligned Rows:
PubMed ReferencesClick to see Conserved Features Help

Sequence Alignment
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Format: Row Display: Color Bits: Type Selection:
Q4AC94       1199 ISVQIIRAcglqaaak--alaeqepALQFSATVGVNASVTTHLsflpqgeQRRTHPVAcsfCPEFSHHVEFTcnlvtqhc 1276 human
XP_002123804 1202 LEVGVIRAsglqyaarlaaslisdsELNYCAGVGVNTYVMMKPsfvnnetLRKTHCVSrsfAPDFNHHFELScplveyrd 1281 Ciona intesti...
NP_001072727 1164 ISVQIHRAsglqaaar--lvaqqdaSFQYSADVGVNAYVTIHPaflpdveLRNTRTVArtfCPEFDHHYEFPcnmviqrn 1241 western clawe...
CAQ14474      455 LVVQIHRAaglqaaak--aladsdsSLDYYSKVGLNSFITVQLsflpdseSRSTRVAArsfCPEFEHHTEFCcnllvqrd 532  zebrafish
XP_417250    1112 LSVQIHRAaglqaaar--avaeknpSVQYYAGVGVNAYVSVHLsflpeteRHSTRAVArsfCPEFEHHVEIPcnlivqks 1189 chicken
XP_002112739 1045 ISLELGRAtglkaaar--yiseqhpDIKNVVTLGVSSYATISLsfldekkKRRTRTVAnsfAPNFSCQVDFTlpvayhfn 1122 Trichoplax ad...
XP_781752    1142 LALAIHRAcglksaat--slarhdnGMQYTSQVGVNSYIKIQLsfmakdeMRVTRTIArsfCPEYNHHVELPcplllapg 1219 purple urchin
Q4AC94       1277 sge----acflaellefaEVIFAVYHENtksasdii----------------------siesckeyLLGVVKVptkelli 1330 human
XP_002123804 1282 svs----pislasslasgQLELELWHRPspndgr---------------------------nagdiLLGRAKIptqdllt 1330 Ciona intesti...
NP_001072727 1242 nge----acslaevlyfsEIVLSIHHQNvasvgstr-----------------------pqpvrdyHLGMVRIpcrqlit 1294 western clawe...
CAQ14474      533 sge----svslaellqdaVAIFTVFNRDtrkmvd--------------------------trskdiVLGTVKIkladlih 582  zebrafish
XP_417250    1190 sge----asclgellqsaNITFSVYHQSiksatdtm----------------------aartsrdyLLGTVTIptrdllr 1243 chicken
XP_002112739 1123 egr----nislaelletsEILIELWHRRpksayevilpd-----------------klkdetlddiRLGYVAVpliklis 1181 Trichoplax ad...
XP_781752    1220 egeeeedvmslaealesaDLILQVWHQVpgfrtgeserphqvedtlprgggggmmghrviaetgdiLIGSATIplvklla 1299 purple urchin
Q4AC94       1331 krsgiTGWYPI 1341 human
XP_002123804 1331 httglKRWHQL 1341 Ciona intestinalis
NP_001072727 1295 krsgvSGWYPV 1305 western clawed frog
CAQ14474      583 krsgiSGWYSL 593  zebrafish
XP_417250    1244 rrsgiTGWYPI 1254 chicken
XP_002112739 1182 tskgiTGWFPV 1192 Trichoplax adhaerens
XP_781752    1300 nrtglEGWFPI 1310 purple urchin
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