KEGG   Homo sapiens (human): 375790Help
Entry
375790            CDS       T01001                                 

Gene name
AGRN, AGRIN, CMS8, CMSPPD
Definition
(RefSeq) agrin
  KO
K06254  agrin
Organism
hsa  Homo sapiens (human)
Pathway
hsa04512  ECM-receptor interaction
Disease
H00770  Congenital myasthenic syndrome
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09130 Environmental Information Processing
  09133 Signaling molecules and interaction
   04512 ECM-receptor interaction
    375790 (AGRN)
 09180 Brite Hierarchies
  09183 Protein families: signaling and cellular processes
   00535 Proteoglycans [BR:hsa00535]
    375790 (AGRN)
Proteoglycans [BR:hsa00535]
 Extracellular matrix (ECM) proteoglycans
  Basement membrane proteoglycans
   375790 (AGRN)
BRITE hierarchy
SSDB OrthologParalogGFIT
Motif
Pfam: Laminin_G_1 Kazal_2 Laminin_G_2 Kazal_1 NtA Laminin_EGF SEA EGF Laminin_G_3
Motif
Other DBs
NCBI-GeneID: 375790
NCBI-ProteinID: NP_001292204
OMIM: 103320
HGNC: 329
Ensembl: ENSG00000188157
Vega: OTTHUMG00000040778
Pharos: O00468(Tbio)
UniProt: O00468
Position
1p36.33
AA seq 2068 aa AA seqDB search
MAGRSHPGPLRPLLPLLVVAACVLPGAGGTCPERALERREEEANVVLTGTVEEILNVDPV
QHTYSCKVRVWRYLKGKDLVARESLLDGGNKVVISGFGDPLICDNQVSTGDTRIFFVNPA
PPYLWPAHKNELMLNSSLMRITLRNLEEVEFCVEDKPGTHFTPVPPTPPDACRGMLCGFG
AVCEPNAEGPGRASCVCKKSPCPSVVAPVCGSDASTYSNECELQRAQCSQQRRIRLLSRG
PCGSRDPCSNVTCSFGSTCARSADGLTASCLCPATCRGAPEGTVCGSDGADYPGECQLLR
RACARQENVFKKFDGPCDPCQGALPDPSRSCRVNPRTRRPEMLLRPESCPARQAPVCGDD
GVTYENDCVMGRSGAARGLLLQKVRSGQCQGRDQCPEPCRFNAVCLSRRGRPRCSCDRVT
CDGAYRPVCAQDGRTYDSDCWRQQAECRQQRAIPSKHQGPCDQAPSPCLGVQCAFGATCA
VKNGQAACECLQACSSLYDPVCGSDGVTYGSACELEATACTLGREIQVARKGPCDRCGQC
RFGALCEAETGRCVCPSECVALAQPVCGSDGHTYPSECMLHVHACTHQISLHVASAGPCE
TCGDAVCAFGAVCSAGQCVCPRCEHPPPGPVCGSDGVTYGSACELREAACLQQTQIEEAR
AGPCEQAECGSGGSGSGEDGDCEQELCRQRGGIWDEDSEDGPCVCDFSCQSVPGSPVCGS
DGVTYSTECELKKARCESQRGLYVAAQGACRGPTFAPLPPVAPLHCAQTPYGCCQDNITA
ARGVGLAGCPSACQCNPHGSYGGTCDPATGQCSCRPGVGGLRCDRCEPGFWNFRGIVTDG
RSGCTPCSCDPQGAVRDDCEQMTGLCSCKPGVAGPKCGQCPDGRALGPAGCEADASAPAT
CAEMRCEFGARCVEESGSAHCVCPMLTCPEANATKVCGSDGVTYGNECQLKTIACRQGLQ
ISIQSLGPCQEAVAPSTHPTSASVTVTTPGLLLSQALPAPPGALPLAPSSTAHSQTTPPP
SSRPRTTASVPRTTVWPVLTVPPTAPSPAPSLVASAFGESGSTDGSSDEELSGDQEASGG
GSGGLEPLEGSSVATPGPPVERASCYNSALGCCSDGKTPSLDAEGSNCPATKVFQGVLEL
EGVEGQELFYTPEMADPKSELFGETARSIESTLDDLFRNSDVKKDFRSVRLRDLGPGKSV
RAIVDVHFDPTTAFRAPDVARALLRQIQVSRRRSLGVRRPLQEHVRFMDFDWFPAFITGA
TSGAIAAGATARATTASRLPSSAVTPRAPHPSHTSQPVAKTTAAPTTRRPPTTAPSRVPG
RRPPAPQQPPKPCDSQPCFHGGTCQDWALGGGFTCSCPAGRGGAVCEKVLGAPVPAFEGR
SFLAFPTLRAYHTLRLALEFRALEPQGLLLYNGNARGKDFLALALLDGRVQLRFDTGSGP
AVLTSAVPVEPGQWHRLELSRHWRRGTLSVDGETPVLGESPSGTDGLNLDTDLFVGGVPE
DQAAVALERTFVGAGLRGCIRLLDVNNQRLELGIGPGAATRGSGVGECGDHPCLPNPCHG
GAPCQNLEAGRFHCQCPPGRVGPTCADEKSPCQPNPCHGAAPCRVLPEGGAQCECPLGRE
GTFCQTASGQDGSGPFLADFNGFSHLELRGLHTFARDLGEKMALEVVFLARGPSGLLLYN
GQKTDGKGDFVSLALRDRRLEFRYDLGKGAAVIRSREPVTLGAWTRVSLERNGRKGALRV
GDGPRVLGESPKSRKVPHTVLNLKEPLYVGGAPDFSKLARAAAVSSGFDGAIQLVSLGGR
QLLTPEHVLRQVDVTSFAGHPCTRASGHPCLNGASCVPREAAYVCLCPGGFSGPHCEKGL
VEKSAGDVDTLAFDGRTFVEYLNAVTESELANEIPVPETLDSGALHSEKALQSNHFELSL
RTEATQGLVLWSGKATERADYVALAIVDGHLQLSYNLGSQPVVLRSTVPVNTNRWLRVVA
HREQREGSLQVGNEAPVTGSSPLGATQLDTDGALWLGGLPELPVGPALPKAYGTGFVGCL
RDVVVGRHPLHLLEDAVTKPELRPCPTP
NT seq 6207 nt NT seq  +upstreamnt  +downstreamnt
atggccggccggtcccacccgggcccgctgcggccgctgctgccgctccttgtggtggcc
gcgtgcgtcctgcccggagccggcgggacatgcccggagcgcgcgctggagcggcgcgag
gaggaggcgaacgtggtgctcaccgggacggtggaggagatcctcaacgtggacccggtg
cagcacacgtactcctgcaaggttcgggtctggcggtacttgaagggcaaagacctggtg
gcccgggagagcctgctggacggcggcaacaaggtggtgatcagcggctttggagacccc
ctcatctgtgacaaccaggtgtccactggggacaccaggatcttctttgtgaaccctgca
cccccatacctgtggccagcccacaagaacgagctgatgctcaactccagcctcatgcgg
atcaccctgcggaacctggaggaggtggagttctgtgtggaagataaacccgggacccac
ttcactccagtgcctccgacgcctcctgatgcgtgccggggaatgctgtgcggcttcggc
gccgtgtgcgagcccaacgcggaggggccgggccgggcgtcctgcgtctgcaagaagagc
ccgtgccccagcgtggtggcgcctgtgtgtgggtcggacgcctccacctacagcaacgaa
tgcgagctgcagcgggcgcagtgcagccagcagcgccgcatccgcctgctcagccgcggg
ccgtgcggctcgcgggacccctgctccaacgtgacctgcagcttcggcagcacctgtgcg
cgctcggccgacgggctgacggcctcgtgcctgtgccccgcgacctgccgtggcgccccc
gaggggaccgtctgcggcagcgacggcgccgactaccccggcgagtgccagctcctgcgc
cgcgcctgcgcccgccaggagaatgtcttcaagaagttcgacggcccttgtgacccctgt
cagggcgccctccctgacccgagccgcagctgccgtgtgaacccgcgcacgcggcgccct
gagatgctcctacggcccgagagctgccctgcccggcaggcgccagtgtgtggggacgac
ggagtcacctacgaaaacgactgtgtcatgggccgatcgggggccgcccggggtctcctc
ctgcagaaagtgcgctccggccagtgccagggtcgagaccagtgcccggagccctgccgg
ttcaatgccgtgtgcctgtcccgccgtggccgtccccgctgctcctgcgaccgcgtcacc
tgtgacggggcctacaggcccgtgtgtgcccaggacgggcgcacgtatgacagtgattgc
tggcggcagcaggctgagtgccggcagcagcgtgccatccccagcaagcaccagggcccg
tgtgaccaggccccgtccccatgcctcggggtgcagtgtgcatttggggcgacgtgtgct
gtgaagaacgggcaggcagcgtgtgaatgcctgcaggcgtgctcgagcctctacgatcct
gtgtgcggcagcgacggcgtcacatacggcagcgcgtgcgagctggaggccacggcctgt
accctcgggcgggagatccaggtggcgcgcaaaggaccctgtgaccgctgcgggcagtgc
cgctttggagccctgtgcgaggccgagaccgggcgctgcgtgtgcccctctgaatgcgtg
gctttggcccagcccgtgtgtggctccgacgggcacacgtaccccagcgagtgcatgctg
cacgtgcacgcctgcacacaccagatcagcctgcacgtggcctcagctggaccctgtgag
acctgtggagatgccgtgtgtgcttttggggctgtgtgctccgcagggcagtgtgtgtgt
ccccggtgtgagcaccccccgcccggccccgtgtgtggcagcgacggtgtcacctacggc
agtgcctgcgagctacgggaagccgcctgcctccagcagacacagatcgaggaggcccgg
gcagggccgtgcgagcaggccgagtgcggttccggaggctctggctctggggaggacggt
gactgtgagcaggagctgtgccggcagcgcggtggcatctgggacgaggactcggaggac
gggccgtgtgtctgtgacttcagctgccagagtgtcccaggcagcccggtgtgcggctca
gatggggtcacctacagcaccgagtgtgagctgaagaaggccaggtgtgagtcacagcga
gggctctacgtagcggcccagggagcctgccgaggccccaccttcgccccgctgccgcct
gtggcccccttacactgtgcccagacgccctacggctgctgccaggacaatatcaccgca
gcccggggcgtgggcctggctggctgccccagtgcctgccagtgcaacccccatggctct
tacggcggcacctgtgacccagccacaggccagtgctcctgccgcccaggtgtggggggc
ctcaggtgtgaccgctgtgagcctggcttctggaactttcgaggcatcgtcaccgatggc
cggagtggctgtacaccctgcagctgtgatccccaaggcgccgtgcgggatgactgtgag
cagatgacggggctgtgctcgtgtaagcccggggtggctggacccaagtgtgggcagtgt
ccagacggccgtgccctgggccccgcgggctgtgaagctgacgcttctgcgcctgcgacc
tgtgcggagatgcgctgtgagttcggtgcgcggtgcgtggaggagtctggctcagcccac
tgtgtctgcccgatgctcacctgtccagaggccaacgctaccaaggtctgtgggtcagat
ggagtcacatacggcaacgagtgtcagctgaagaccatcgcctgccgccagggcctgcaa
atctctatccagagcctgggcccgtgccaggaggctgttgctcccagcactcacccgaca
tctgcctccgtgactgtgaccaccccagggctcctcctgagccaggcactgccggccccc
cccggcgccctccccctggctcccagcagtaccgcacacagccagaccacccctccgccc
tcatcacgacctcggaccactgccagcgtccccaggaccaccgtgtggcccgtgctgacg
gtgccccccacggcaccctcccctgcacccagcctggtggcgtccgcctttggtgaatct
ggcagcactgatggaagcagcgatgaggaactgagcggggaccaggaggccagtgggggt
ggctctggggggctcgagcccttggagggcagcagcgtggccacccctgggccacctgtc
gagagggcttcctgctacaactccgcgttgggctgctgctctgatgggaagacgccctcg
ctggacgcagagggctccaactgccccgccaccaaggtgttccagggcgtcctggagctg
gagggcgtcgagggccaggagctgttctacacgcccgagatggctgaccccaagtcagaa
ctgttcggggagacagccaggagcattgagagcaccctggacgacctcttccggaattca
gacgtcaagaaggattttcggagtgtccgcttgcgggacctggggcccggcaaatccgtc
cgcgccattgtggatgtgcactttgaccccaccacagccttcagggcacccgacgtggcc
cgggccctgctccggcagatccaggtgtccaggcgccggtccttgggggtgaggcggccg
ctgcaggagcacgtgcgatttatggactttgactggtttcctgcgtttatcacgggggcc
acgtcaggagccattgctgcgggagccacggccagagccaccactgcatcgcgcctgccg
tcctctgctgtgacccctcgggccccgcaccccagtcacacaagccagcccgttgccaag
accacggcagcccccaccacacgtcggccccccaccactgcccccagccgtgtgcccgga
cgtcggcccccggccccccagcagcctccaaagccctgtgactcacagccctgcttccac
ggggggacctgccaggactgggcattgggcgggggcttcacctgcagctgcccggcaggc
aggggaggcgccgtctgtgagaaggtgcttggcgcccctgtgccggccttcgagggccgc
tccttcctggccttccccactctccgcgcctaccacacgctgcgcctggcactggaattc
cgggcgctggagcctcaggggctgctgctgtacaatggcaacgcccggggcaaggacttc
ctggcattggcgctgctagatggccgcgtgcagctcaggtttgacacaggttcggggccg
gcggtgctgaccagtgccgtgccggtagagccgggccagtggcaccgcctggagctgtcc
cggcactggcgccggggcaccctctcggtggatggtgagacccctgttctgggcgagagt
cccagtggcaccgacggcctcaacctggacacagacctctttgtgggcggcgtacccgag
gaccaggctgccgtggcgctggagcggaccttcgtgggcgccggcctgagggggtgcatc
cgtttgctggacgtcaacaaccagcgcctggagcttggcattgggccgggggctgccacc
cgaggctctggcgtgggcgagtgcggggaccacccctgcctgcccaacccctgccatggc
ggggccccatgccagaacctggaggctggaaggttccattgccagtgcccgcccggccgc
gtcggaccaacctgtgccgatgagaagagcccctgccagcccaacccctgccatggggcg
gcgccctgccgtgtgctgcccgagggtggtgctcagtgcgagtgccccctggggcgtgag
ggcaccttctgccagacagcctcggggcaggacggctctgggcccttcctggctgacttc
aacggcttctcccacctggagctgagaggcctgcacacctttgcacgggacctgggggag
aagatggcgctggaggtcgtgttcctggcacgaggccccagcggcctcctgctctacaac
gggcagaagacggacggcaagggggacttcgtgtcgctggcactgcgggaccgccgcctg
gagttccgctacgacctgggcaagggggcagcggtcatcaggagcagggagccagtcacc
ctgggagcctggaccagggtctcactggagcgaaacggccgcaagggtgccctgcgtgtg
ggcgacggcccccgtgtgttgggggagtccccgaaatcccgcaaggttccgcacaccgtc
ctcaacctgaaggagccgctctacgtagggggcgctcccgacttcagcaagctggcccgt
gctgctgccgtgtcctctggcttcgacggtgccatccagctggtctccctcggaggccgc
cagctgctgaccccggagcacgtgctgcggcaggtggacgtcacgtcctttgcaggtcac
ccctgcacccgggcctcaggccacccctgcctcaatggggcctcctgcgtcccgagggag
gctgcctatgtgtgcctgtgtcccgggggattctcaggaccgcactgcgagaaggggctg
gtggagaagtcagcgggggacgtggataccttggcctttgacgggcggacctttgtcgag
tacctcaacgctgtgaccgagagcgaactggccaatgagatccccgtccccgaaactctg
gattccggggcccttcacagcgagaaggcactgcagagcaaccactttgaactgagcctg
cgcactgaggccacgcaggggctggtgctctggagtggcaaggccacggagcgggcagac
tatgtggcactggccattgtggacgggcacctgcaactgagctacaacctgggctcccag
cccgtggtgctgcgttccaccgtgcccgtcaacaccaaccgctggttgcgggtcgtggca
catagggagcagagggaaggttccctgcaggtgggcaatgaggcccctgtgaccggctcc
tccccgctgggcgccacgcagctggacactgatggagccctgtggcttgggggcctgccg
gagctgcccgtgggcccagcactgcccaaggcctacggcacaggctttgtgggctgcttg
cgggacgtggtggtgggccggcacccgctgcacctgctggaggacgccgtcaccaagcca
gagctgcggccctgccccaccccatga

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