KEGG   Homo sapiens (human): 1605
Entry
1605              CDS       T01001                                 

Gene name
DAG1, 156DAG, A3a, AGRNR, DAG, LGMDR16, MDDGA9, MDDGC7, MDDGC9
Definition
(RefSeq) dystroglycan 1
  KO
K06265  dystroglycan 1
Organism
hsa  Homo sapiens (human)
Pathway
hsa04512  ECM-receptor interaction
hsa05410  Hypertrophic cardiomyopathy (HCM)
hsa05412  Arrhythmogenic right ventricular cardiomyopathy (ARVC)
hsa05414  Dilated cardiomyopathy (DCM)
hsa05416  Viral myocarditis
Network
  Element
N00465  Deleted DMD to dystrophin-associated protein complex
Disease
H00120  Muscular dystrophy-dystroglycanopathy type A
H00593  Limb-girdle muscular dystrophy
H01959  Muscular dystrophy-dystroglycanopathy type C
H02307  Muscular dystrophy-dystroglycanopathy
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09130 Environmental Information Processing
  09133 Signaling molecules and interaction
   04512 ECM-receptor interaction
    1605 (DAG1)
 09160 Human Diseases
  09166 Cardiovascular disease
   05410 Hypertrophic cardiomyopathy (HCM)
    1605 (DAG1)
   05412 Arrhythmogenic right ventricular cardiomyopathy (ARVC)
    1605 (DAG1)
   05414 Dilated cardiomyopathy (DCM)
    1605 (DAG1)
   05416 Viral myocarditis
    1605 (DAG1)
SSDB
Motif
Pfam: DAG1 a_DG1_N2 He_PIG ATP1G1_PLM_MAT8
Other DBs
NCBI-GeneID: 1605
NCBI-ProteinID: NP_001159400
OMIM: 128239
HGNC: 2666
Ensembl: ENSG00000173402
Vega: OTTHUMG00000156869
Pharos: Q14118(Tbio)
UniProt: Q14118 A0A024R2W4
Structure
PDB: 
5LLK 6JJY

Position
3p21.31
AA seq 895 aa
MRMSVGLSLLLPLWGRTFLLLLSVVMAQSHWPSEPSEAVRDWENQLEASMHSVLSDLHEA
VPTVVGIPDGTAVVGRSFRVTIPTDLIASSGDIIKVSAAGKEALPSWLHWDSQSHTLEGL
PLDTDKGVHYISVSATRLGANGSHIPQTSSVFSIEVYPEDHSELQSVRTASPDPGEVVSS
ACAADEPVTVLTVILDADLTKMTPKQRIDLLHRMRSFSEVELHNMKLVPVVNNRLFDMSA
FMAGPGNAKKVVENGALLSWKLGCSLNQNSVPDIHGVEAPAREGAMSAQLGYPVVGWHIA
NKKPPLPKRVRRQIHATPTPVTAIGPPTTAIQEPPSRIVPTPTSPAIAPPTETMAPPVRD
PVPGKPTVTIRTRGAIIQTPTLGPIQPTRVSEAGTTVPGQIRPTMTIPGYVEPTAVATPP
TTTTKKPRVSTPKPATPSTDSTTTTTRRPTKKPRTPRPVPRVTTKVSITRLETASPPTRI
RTTTSGVPRGGEPNQRPELKNHIDRVDAWVGTYFEVKIPSDTFYDHEDTTTDKLKLTLKL
REQQLVGEKSWVQFNSNSQLMYGLPDSSHVGKHEYFMHATDKGGLSAVDAFEIHVHRRPQ
GDRAPARFKAKFVGDPALVLNDIHKKIALVKKLAFAFGDRNCSTITLQNITRGSIVVEWT
NNTLPLEPCPKEQIAGLSRRIAEDDGKPRPAFSNALEPDFKATSITVTGSGSCRHLQFIP
VVPPRRVPSEAPPTEVPDRDPEKSSEDDVYLHTVIPAVVVAAILLIAGIIAMICYRKKRK
GKLTLEDQATFIKKGVPIIFADELDDSKPPPSSSMPLILQEEKAPLPPPEYPNQSVPETT
PLNQDTMGEYTPLRDEDPNAPPYQPPPPFTAPMEGKGSRPKNMTPYRSPPPYVPP
NT seq 2688 nt   +upstreamnt  +downstreamnt
atgaggatgtctgtgggcctctcgctgctgctgcccctctgggggaggacctttctcctc
ctgctctctgtggttatggctcagtcccactggcccagtgaaccctcagaggctgtcagg
gactgggaaaaccagcttgaggcatccatgcactcagtgctctcagacctccacgaggct
gttcccacagtggttggcattcctgatggcacggctgtcgtcgggcgctcatttcgagtg
accattccaacagatttgattgcctccagtggagatatcatcaaggtatcagcggcaggg
aaggaggctttgccatcttggctgcactgggactcacagagccacaccctggagggcctc
ccccttgacactgataagggtgtgcattacatttcagtgagcgctacacggctgggggcc
aacgggagccacatcccccagacctccagtgtgttctccatcgaggtctaccctgaagac
cacagtgagctgcagtcggtgaggacagcctccccagaccctggtgaggtggtatcatct
gcctgtgctgcggatgaacctgtgactgttttgacggtgattttggatgccgacctcacc
aagatgaccccaaagcaaaggattgacctcctgcacaggatgcggagcttctcagaagta
gagcttcacaacatgaaattagtgccggtggtgaataacagactatttgacatgtcggcc
ttcatggctggcccgggaaatgcaaaaaaggtggtggagaatggggcccttctctcctgg
aagctgggctgctccctgaaccagaacagtgtgcctgacattcatggtgtagaggcccct
gccagggagggcgcaatgtctgctcagcttggctaccctgtggtgggttggcacatcgcc
aataagaagccccctcttcccaaacgcgtccggaggcagatccatgctacacccacacct
gtcactgccattgggcccccaaccacggctatccaggagcccccatccaggatcgtgcca
acccccacatctccagccattgctcctccaacagagaccatggctcctccagtcagggat
cctgttcctgggaaacccacggtcaccatccggactcgaggcgccattattcaaacccca
accctaggccccatccagcctactcgggtgtcagaagctggcaccacagttcctggccag
attcgcccaacgatgaccattcctggctatgtggagcctactgcagttgctacccctccc
acaaccaccaccaagaagccacgagtatccacaccaaaaccagcaacgccttcaactgac
tccaccaccaccacgactcgcaggccaaccaagaaaccacggacaccccggccagtgccc
cgggtcaccaccaaagtttccatcaccagattggaaactgcctcaccgcctactcgtatt
cgcaccaccaccagtggagtgccccgtggcggagaacccaaccagcgcccagagctcaag
aaccatattgacagggtagatgcctgggttggcacctactttgaggtgaagatcccgtca
gacactttctatgaccatgaggacaccaccactgacaagctgaagctgaccctgaaactg
cgggagcagcagctggtgggcgagaagtcctgggtacagttcaacagcaacagccagctc
atgtatggccttcccgacagcagccacgtgggcaaacacgagtatttcatgcatgccaca
gacaaggggggcctgtcggctgtggatgccttcgagatccacgtccacaggcgcccccaa
ggggatagggctcctgcaaggttcaaggccaagtttgtgggtgacccggcactggtgttg
aatgacatccacaagaagattgccttggtaaagaaactggccttcgcctttggagaccga
aactgtagcaccatcaccctgcagaatatcacccggggctccatcgtggtggaatggacc
aacaacacactgcccttggagccctgccccaaggagcagatcgctgggctgagccgccgg
atcgctgaggatgatggaaaacctcggcctgccttctccaacgccctagagcctgacttt
aaggccacaagcatcactgtgacgggctctggcagttgtcggcacctacagtttatccct
gtggtaccacccaggagagtgccctcagaggcgccgcccacagaagtgcctgacagggac
cctgagaagagcagtgaggatgatgtctacctgcacacagtcattccggccgtggtggtc
gcagccatcctgctcattgctggcatcattgccatgatctgctaccgcaagaagcggaag
ggcaagcttacccttgaggaccaggccaccttcatcaagaagggggtgcctatcatcttt
gcagacgaactggacgactccaagcccccaccctcctccagcatgccactcattctgcag
gaggagaaggctcccctaccccctcctgagtaccccaaccagagtgtgcccgagaccact
cctctgaaccaggacaccatgggagagtacacgcccctgcgggatgaggatcccaatgcg
cctccctaccagcccccaccgcccttcacagcacccatggagggcaagggctcccgtccc
aagaacatgaccccataccggtcacctcctccctatgtcccaccttaa

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Ontology (1)   
   KEGG BRITE (1)   
Pathway (5)   
   KEGG PATHWAY (5)   
Network (1)   
   KEGG NETWORK (1)   
Disease (7)   
   KEGG DISEASE (4)   
   OMIM (3)   
Genome (1)   
   KEGG GENOME (1)   
Gene (21)   
   KEGG ORTHOLOGY (1)   
   RefGene (6)   
   NCBI-PROTEINID (1)   
   NCBI-Gene (1)   
   HGNC (1)   
   Ensembl (1)   
   RIKEN BRC-DNA (7)   
   OC (1)   
   PHAROS (1)   
   VEGA (1)   
Protein sequence (16)   
   UniProt (2)   
   SWISS-PROT (1)   
   RefSeq(pep) (13)   
DNA sequence (63)   
   RefSeq(nuc) (13)   
   GenBank (25)   
   EMBL (25)   
Protein domain (4)   
   Pfam (4)   
All databases (119)   

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