Conserved Protein Domain Family
DAG1

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pfam05454: DAG1 
Dystroglycan (Dystrophin-associated glycoprotein 1)
Dystroglycan is one of the dystrophin-associated glycoproteins, which is encoded by a 5.5 kb transcript in human. The protein product is cleaved into two non-covalently associated subunits, [alpha] (N-terminal) and [beta] (C-terminal). In skeletal muscle the dystroglycan complex works as a transmembrane linkage between the extracellular matrix and the cytoskeleton. [alpha]-dystroglycan is extracellular and binds to merosin ([alpha]-2 laminin) in the basement membrane, while [beta]-dystroglycan is a transmembrane protein and binds to dystrophin, which is a large rod-like cytoskeletal protein, absent in Duchenne muscular dystrophy patients. Dystrophin binds to intracellular actin cables. In this way, the dystroglycan complex, which links the extracellular matrix to the intracellular actin cables, is thought to provide structural integrity in muscle tissues. The dystroglycan complex is also known to serve as an agrin receptor in muscle, where it may regulate agrin-induced acetylcholine receptor clustering at the neuromuscular junction. There is also evidence which suggests the function of dystroglycan as a part of the signal transduction pathway because it is shown that Grb2, a mediator of the Ras-related signal pathway, can interact with the cytoplasmic domain of dystroglycan. In general, aberrant expression of dystrophin-associated protein complex underlies the pathogenesis of Duchenne muscular dystrophy, Becker muscular dystrophy and severe childhood autosomal recessive muscular dystrophy. Interestingly, no genetic disease has been described for either [alpha]- or [beta]-dystroglycan. Dystroglycan is widely distributed in non-muscle tissues as well as in muscle tissues. During epithelial morphogenesis of kidney, the dystroglycan complex is shown to act as a receptor for the basement membrane. Dystroglycan expression in mouse brain and neural retina has also been reported. However, the physiological role of dystroglycan in non-muscle tissues has remained unclear.
Statistics
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PSSM-Id: 310214
View PSSM: pfam05454
Aligned: 4 rows
Threshold Bit Score: 424.794
Threshold Setting Gi: 27545299
Created: 20-Jul-2016
Updated: 4-Aug-2016
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:
                          10        20        30        40        50        60        70        80
                  ....*....|....*....|....*....|....*....|....*....|....*....|....*....|....*....|
gi 229462879  606 ARFKAKFVGDPALVLNDIHKKiaLVKKLAFAFGDRNCSTITLQNIT----RGSIVVEWTNNTL--PLEPCPKEQIAGLSR 679
gi 74866023   724 FFFKAYLSIKHERFNADLQRK--FVERVAKLNGDPTTGQIQIRSITthhdSDGTIVNFYNTTLyrKHNSCREKEVAMTRS 801
gi 27545299   580 VLFTAVFDGDARTVTNDIHKKilLVKKLSQSFGDRNSSTITLKSIT----KGSIIVEWTNNSL--QQSPCPKDQIQQLSK 653
gi 1043426450 594 VKFHAKFHGDHNAVINDINKKilLVKKLAFAFGDRNSSSITLHNIT----KGSVVVDWTNNTF--PVEPCPVEQVEGVGK 667
                          90       100       110       120       130       140       150       160
                  ....*....|....*....|....*....|....*....|....*....|....*....|....*....|....*....|
gi 229462879  680 RIAEDDGKPRPAFSNALEPDFKATSITVTGSGSCRH--LQFIPVVPPRRVPSEapptevPDRDPEKSSEDDVYLHTVIPA 757
gi 74866023   802 VYLNSDLSLREAAKRALGPELNLTNFSVVPFSICHH--TENIDTNQLDYIPSR------PEEPTHKSSFGEDYMITFVWP 873
gi 27545299   654 KISDPEGKPSSIFKFTMEPDFRPSNITVRGTASCRN--YMFVPL---GEIPDPtpspgtPAVGAGRQSTDDVYLHTVIPA 728
gi 1043426450 668 KIYDERGSPRQHFVNAVEPEFKLLNVSLSFSGSCKHkkFRYIPMRAEEPIPTAvaptvaVDRNLEKRSEDDVYLHTVIPA 747
                         170       180       190       200       210       220       230       240
                  ....*....|....*....|....*....|....*....|....*....|....*....|....*....|....*....|
gi 229462879  758 VVVAAILLIAGIIAMICYR--KKRKGKLTL---EDQATFIKKGVPIIFADELDDsKPPPSSSMPLILQEEKAPLPPPEYP 832
gi 74866023   874 IVIIVAMLVAASIIACCLHwcRQRSGKMELgdeEERKSFRAKGIPVIFQDEYEE-KPEIGNKSPVILKDEKPPLLPPSYN 952
gi 27545299   729 VVVAAILLIAGIIAMICYR--KKRKGKLTI---EDQATFIKKGVPIIFADELDDsKPPPSSSMPLILQEEKPPLPPPEYP 803
gi 1043426450 748 VVVAAILLIAGIIAMICYR--KKRKGKLTI---EDQATFIKKGVPIIFADELDDsKPPPSSSMPLILKEEKAPLPPPEYP 822
                         250       260       270       280       290       300
                  ....*....|....*....|....*....|....*....|....*....|....*....|...
gi 229462879  833 NQSVpettplnqdtmgeytplrDEDPNAPPYQPPPPFTAPMEGKGSRPKNMTPYRSPPPYVPP 895
gi 74866023   953 TSNM------------------NGDNDVDDYVPPPSVVVGGREVRGKSPATPSYRKPPPYVSP 997
gi 27545299   804 NMATpettplnqdllgeytplhDEDPNAPPYQPPPPFSTPMEGKGSRPKNMTPYRSPPPYVPP 866
gi 1043426450 823 NQNVpetiplnqdslgeytplrDEDPNAPPYQPPPPFTAPMEGKGSRPKNMTPYRSPPPYVPP 885
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