Conserved Protein Domain Family
C2A_Ferlin

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cd08373: C2A_Ferlin 
C2 domain first repeat in Ferlin
Ferlins are involved in vesicle fusion events. Ferlins and other proteins, such as Synaptotagmins, are implicated in facilitating the fusion process when cell membranes fuse together. There are six known human Ferlins: Dysferlin (Fer1L1), Otoferlin (Fer1L2), Myoferlin (Fer1L3), Fer1L4, Fer1L5, and Fer1L6. Defects in these genes can lead to a wide range of diseases including muscular dystrophy (dysferlin), deafness (otoferlin), and infertility (fer-1, fertilization factor-1). Structurally they have 6 tandem C2 domains, designated as (C2A-C2F) and a single C-terminal transmembrane domain, though there is a new study that disputes this and claims that there are actually 7 tandem C2 domains with another C2 domain inserted between C2D and C2E. In a subset of them (Dysferlin, Myoferlin, and Fer1) there is an additional conserved domain called DysF. 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. This cd contains the first C2 repeat, C2A, and has a type-II topology.
Statistics
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PSSM-Id: 176019
View PSSM: cd08373
Aligned: 25 rows
Threshold Bit Score: 121.592
Threshold Setting Gi: 256085373
Created: 29-Nov-2009
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:
XP_002122810    3 LEVRIFSVgglKGKGSRNARITFRghSYSTRTIEdcenEAPF-NEIFDWPvasqiedreMISIDVYNYNKVfsnrLIGRF 81   Ciona intesti...
CAF91570        3 ISVTLLRVtnlPGRSDRKVELSFRgfTHKTRVLQce-nLAIF-NEVADSHhthv-htpmQTDLVLTGVYVRvctrLLGKL 79   spotted green...
XP_002578896    3 LILDLKYLvglTGKGDRRIKVLFReaKLNSRIATgh-dSVYF-GQRISWPvsrslddkdVLILKAYQMRKGlpdsTHGDL 80   Schistosoma m...
XP_968595       3 LSVKLKQFkiaKCKGEKLAKVEFRgvSHLTKILDdsggDIIIvDQIFDWPvarpieeneLLLVELYSRNRLfsdkLLGSY 82   red flour beetle
XP_002164683    3 LDVNLTAItglKGKADRFCRFFFRgvPATSNVLQnchgDALF-NEEFFWPletpldneeWLELRLYNRNKIfqdrLIGAY 81   green hydra
XP_001922278    3 ITVLLKKIfnlPGKYDRKVELSFRgfTHKTKILQce-nIAIF-NEHFRWPhygkverdeVLSISVFNCSKMfsnrLLGKL 80   zebrafish
Q9ESF1          3 LIVHLKTVselRGKGDRIAKVTFRgqSFYSRVLEncegVADF-DETFRWPvassidrneVLEIQIFNYSKVfsnkLIGTF 81   house mouse
NP_001025283    3 LVVHLKTVtelRGKGDRIAKVTFRglSFFSRVLEncedEARF-EQAFRWPigsqvdgdeMLEIQVFNYSKVftnrLIGTF 81   zebrafish
XP_420015       3 LQLQLRTVsglRGRADRIAKAAFRglSFYTRVMEncedEARF-DETFRWPvasnidgneILEIQVFNYSKVftnrLIGTF 81   chicken
XP_001639478    3 LVLLLKTCtnlHGKADRIARVTFRgvTYQTSVVEhs-sEADW-DEDFEWPlsspldpseFIEIEVYTFNKIfqnrLVGVF 80   starlet sea a...
XP_002122810   82 QMvlqqvvkdgeiTLEEPLlDSNNTALKTTisl-------qiKYLAPDGTVGNWSI 130  Ciona intestinalis
CAF91570       80 VVslqhvvssgrmWLRERLtDSNLSPTDNFqfe-------fqEYPEILFDKVIELK 128  spotted green pufferfish
XP_002578896   81 DDd----------LVNYPLaDTDYRLEDAEnviqqdqpppfsSYVELDDDFNQIID 126  Schistosoma mansoni
XP_968595      83 TLvlqravrdgrvSVADSLvDPNSKPILATvqf-------evLYTLPDESTASFTG 131  red flour beetle
XP_002164683   82 RLslsqiieggstDVVDNLiDTSHTILRIEvrm-------svTYRKPEPGKNLYDH 130  green hydra
XP_001922278   81 VIslqhvvsvgqlILREPLtDAQHSLTDMYiel-------evKYSPLQGAAGGWDS 129  zebrafish
Q9ESF1         82 CMvlqkvveenrvEVTDTLmDDSNAIIKTSlsm-------evRYQATDGTVGPWDD 130  house mouse
NP_001025283   82 RMvlqkvveeghlEVSDTLiDDNNTAIQTTisi-------eiKYQTMDGSVKVWSD 130  zebrafish
XP_420015      82 RMvlqkvveeghvEVTDTLiDDNNSAIQTSisi-------eiRYQALDGTVGTWND 130  chicken
XP_001639478   81 RMvlqrliqeghlEVEESLvDMNNTVLKATvsl-------elQYNAPEGHISQWVN 129  starlet sea anemone
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