Conserved Protein Domain Family
C2C_Ferlin

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cd04018: C2C_Ferlin 
C2 domain third 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 third C2 repeat, C2C, and has a type-II topology.
Statistics
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PSSM-Id: 175985
View PSSM: cd04018
Aligned: 28 rows
Threshold Bit Score: 177.825
Threshold Setting Gi: 91079979
Created: 16-May-2006
Updated: 2-Oct-2020
Structure
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Aligned Rows:
 
Ca2+ binding
Feature 1:Ca2+ binding site [ion binding site]
Evidence:

Sequence Alignment
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Format: Row Display: Color Bits: Type Selection:
Feature 1                                         #     #                                         
CAF91570      252 RFHIRIYKAEGLPTMDsglmak-----mavvsDRTVFIDPYVRATFaGQQGETSVVPASSCPVWNEEISFIEQFPPLAQR 326  Tetraodon nig...
XP_002160751  389 TFLVKVYRAEDIPQMDsaameni--kkifssgPPKELVDPYVVFSFaGKTVKTDIKCNNDHPEYNQELRVSFKFPSMCER 466  green hydra
XP_002114717  345 TFALKVYRAEDLPRMDvgflqgi--kkvfgsdDQKELVDPYFKFSYaGRKAKTRVEYSCDNPEWNQELRLKIRLPSMCER 422  Trichoplax ad...
XP_001635151  167 LFNLRIFQAEDIPQMDsgmgrsikkffkgifgGAKGLVDPYVKVNFcGKKIETSIKYQDDNPEFKEQVKIPLMFPSMCER 246  starlet sea a...
A9Z1Z3        190 RLRVRLYRAEGLPALRlgllgs----lvralhDQRVLVEPYVRVSFlGQEGETSVSAEAAAPEWNEQLSFVELFPPLTRS 265  human
XP_002114718  304 TYSLKAYRAVDIPRMDkgvfegvk-kffghgdDSKSLVDPYIYFSYaGHKVKSKTICNSDNPEWRQYLNIGSRFPSMCER 382  Trichoplax ad...
XP_393799     445 FYIFTIYRADGLPDMSsfc-----------mkSDYENINPFVQISFaGMKQTTREEWQTYRPYFNQKIIFNEMFPSLCQR 513  honey bee
XP_417320     486 RVCVKLYRAEGLPSMGagimgg----fskiigEKNVFIDPYVQVSFcGQQGETSVESNTTEPEWNEQISFIEMFPPLAKK 561  chicken
XP_002610453  317 TFIFRVFRAEDIPQMDtsamqgik-kvlgvgeVKKELVDPYMEVHFaGRKVNTKTLYNSDHPEWNQELRLGMRFPSMCEV 395  Florida lancelet
XP_002578896  300 SMKVSIYQAEDLPPMNteisdki---rkafvgENTPNLDSYVEVSYaGHTARTKTEKYNYNPIWNETIEFCDYFPSFTRT 376  Schistosoma m...
Feature 1               # #           # #                                                         
CAF91570      327 IRVQILDDAkm-gDVVLATHFLDLQQISDPtrn-------------gfnPIFGPSWVNLYGSPQNSTLRdvh---qalNE 389  Tetraodon nig...
XP_002160751  467 LKLQMFDWDrvgnDDCIGTSFISLTSISGSgdd-------------gflPAFGPTFVNFYGSLREFSTIpdey--ddlNK 531  green hydra
XP_002114717  423 LKLSMIDWDnagrNDSIGTYFMNISSISSNnee-------------gfpPTFGPCYINFYGSPREFTSIdeh---edlND 486  Trichoplax ad...
XP_001635151  247 IKIQLYDWDrvgnDDCIGTAFLSLSSISGQgdegnellvilhpsllcfpPTFGPCFVNFYGSPREFSELpdqd--dalNK 324  starlet sea a...
A9Z1Z3        266 LRLQLRDDApl-vDAALATHVPDLRRISHPgraa------------gfnPTFGPAWVPLYGSPPGAGLRdsl---qglNE 329  human
XP_002114718  383 LQISIYDWDrmnkDDVIGTYFLNIAEISSSsdskviiikmttfivtgfpPTFGPSFVNFYGSPREYSDLpdey--edlNR 460  Trichoplax ad...
XP_393799     514 VRIAIKHRVntcrTCVVASYILNLAKIFQSgky-------------dflPTFGPSFLHFYGFGAAERSTc-------fGK 573  honey bee
XP_417320     562 IKIQVLDDAnv-gDVAIATHYIDLQQISDPgrn-------------gfnPTFGPAWVNLYGSPQNSALRdvh---kdlNE 624  chicken
XP_002610453  396 IKLRIKDWDrvsaDDTVGTGLLNLSMVSWPgeed------------gflPCFGPCFLNMYGSVREFRTLpdef--ddlNL 461  Florida lancelet
XP_002578896  377 IRINVRNGGl--kGELIATRLIDIRDIMCHitg-------------rnfPHFGPSWINLYGTPRIYTYAqmlqpevelNQ 441  Schistosoma m...
Feature 1                   
CAF91570      390 GLGEGIFYRG 399  Tetraodon nigroviridis
XP_002160751  532 GRGEGVAYRG 541  green hydra
XP_002114717  487 GKGEGCAYRG 496  Trichoplax adhaerens
XP_001635151  325 GIGEGVAYRG 334  starlet sea anemone
A9Z1Z3        330 GVGQGIWFRG 339  human
XP_002114718  461 GKGEGVAYRG 470  Trichoplax adhaerens
XP_393799     574 CFSALPLYRG 583  honey bee
XP_417320     625 GMGEGIFYRG 634  chicken
XP_002610453  462 GKGEGVAYRG 471  Florida lancelet
XP_002578896  442 ALGEGVAYRG 451  Schistosoma mansoni

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