Conserved Protein Domain Family
C2B_Ferlin

?
cd04011: C2B_Ferlin 
C2 domain second 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 second C2 repeat, C2B, and has a type-II topology.
Statistics
?
PSSM-Id: 175978
View PSSM: cd04011
Aligned: 33 rows
Threshold Bit Score: 130.774
Threshold Setting Gi: 118369298
Created: 17-May-2006
Updated: 2-Oct-2020
Structure
?
Aligned Rows:
PubMed ReferencesClick to see Conserved Features Help

Sequence Alignment
?
Format: Row Display: Color Bits: Type Selection:
CAI11718      256 PVDYQISVTVIEARQLv-----GLNMDPVVCVEIg-EEKKYTSMKESt---nCPYYNEYFVFDFHVpp-dvMFDKIIKIS 325  zebrafish
XP_002114718  141 PQDFQVRIKIIEGRQLs-----GSNISPVVRISVa-NQSRQTRVRKAt---nKPFYDEMFFFNFHMsp-qeLFDELIVFQ 210  Trichoplax ad...
XP_002160751  206 PTDFQVRIKIIEARQLp-----GGNINPTVRITLg-DETKQTRVKHSt---nKPYFDETFFFNFNErp-ndMFDKIVSFE 275  green hydra
XP_001626241   18 PQHYQVRVKIHEGRQIp-----GTNIHPLVRVSVg-NKKQSTSVKRSt---nSPTYNQTLFFNFHAse-aeLFDELMTLE 87   starlet sea a...
XP_002122963   79 PEDFQIRLKVICGRQLa-----GSNIKPVVTVKAgkTQTKITRIRKGs----APIWNEMFLFTFKEsl-keLCDYIFEFT 148  Ciona intesti...
XP_002574936  117 KQDFQIRVKVIEARQLq-----GANISPICKITCw-KESKDTRVRNCt---nSPFWDQTFFFNFFDsa-aeMLDQQLVFT 186  Schistosoma m...
EEY61683      225 QGDYQVQVHVIEARDLkge-nlSGTSDPYCQVDIm-GVSKKTSTKYDt---lGCVFDEVLFFNFTNigrheLREASIKIS 299  Phytophthora ...
XP_001436900   24 PGEYLVHILLQQTRALqnpndnESTIDPLIQIETm-DQKKFSSQKKGtgsnsTLVWNEHFYFKRSFsngwqIQSQHVKIS 102  Paramecium te...
EEY53024      370 SGDYNVQVHVIEARDLvpk-dsTGTSDPVVYVEVf-GEKQQTAVKKQv---lSCFWDDLLIFPFRNldkseVEMGYVRLS 444  Phytophthora ...
XP_001901784  136 LQSFTVRLYIFEARELy-----GNNLNPLLRVILd-GRCRSSLSQHSt---nSPRWNDSLSFTVQKsl-qdMMRTCLEFR 205  agent of lymp...
CAI11718      326 VIHSKNLLrsgTLVGTFKLDVGTVYTQPEHQFHHKWAMLSDP 367  zebrafish
XP_002114718  211 VFNARKLRh-nSLIGSFKIDIGMVYEGDQHAFLNKWIMLTNP 251  Trichoplax adhaerens
XP_002160751  276 VYNSKSLMs-dALLGSFGCDVGLIYDGDDHAIVRKWLLMTAP 316  green hydra
XP_001626241   88 VFNSRTFLs-dSLLGFFESDIGTLYELPDHAFLRKWVLLTGA 128  starlet sea anemone
XP_002122963  149 VNNSRNMRs-dGLIGTFKLDVGSIYNQPEHAYVKKWLLLTDP 189  Ciona intestinalis
XP_002574936  187 VYDSRRLRr-dSLIGSFKFDLSIVYECDRHAMLNKWLLLCNP 227  Schistosoma mansoni
EEY61683      300 VYDKERVLr-dNLIGIYQLDCLSVYTQPHHELYRQWIAVHDN 340  Phytophthora infestans T30-4
XP_001436900  103 VLDHKVFGr-nAVVGIYEFDFSTIYMMDDHVLLHKWLVRTSI 143  Paramecium tetraurelia strain d4-2
EEY53024      445 VMDANTFQr-aELIGAAQFDVSYIYSQANHQLANVWIGLTDI 485  Phytophthora infestans T30-4
XP_001901784  206 VYNARQLAs-dTLIGGFKCELGYIYKSERHLLQEKWLVLRAD 246  agent of lymphatic filariasis
| Disclaimer | Privacy statement | Accessibility |
NCBI Home NCBI Search NCBI SiteMap