KEGG   Homo sapiens (human): 8506
Entry
8506              CDS       T01001                                 
Symbol
CNTNAP1, CASPR, CHN3, CNTNAP, NRXN4, P190
Name
(RefSeq) contactin associated protein 1
  KO
K07379  contactin associated protein 1
Organism
hsa  Homo sapiens (human)
Pathway
hsa04514  Cell adhesion molecules
Disease
H00865  Lethal congenital contractural syndrome
H02357  Congenital hypomyelinating neuropathy
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09130 Environmental Information Processing
  09133 Signaling molecules and interaction
   04514 Cell adhesion molecules
    8506 (CNTNAP1)
 09180 Brite Hierarchies
  09183 Protein families: signaling and cellular processes
   04990 Domain-containing proteins not elsewhere classified [BR:hsa04990]
    8506 (CNTNAP1)
Domain-containing proteins not elsewhere classified [BR:hsa04990]
 Laminin domain-containing proteins
  Laminin G domain-containing proteins
   8506 (CNTNAP1)
SSDB
Motif
Pfam: Laminin_G_2 Laminin_G_1 F5_F8_type_C EGF Laminin_G_3
Other DBs
NCBI-GeneID: 8506
NCBI-ProteinID: NP_003623
OMIM: 602346
HGNC: 8011
Ensembl: ENSG00000108797
Pharos: P78357(Tbio)
UniProt: P78357
LinkDB
Position
17:42682531..42699993
AA seq 1384 aa
MMHLRLFCILLAAVSGAEGWGYYGCDEELVGPLYARSLGASSYYSLLTAPRFARLHGISG
WSPRIGDPNPWLQIDLMKKHRIRAVATQGSFNSWDWVTRYMLLYGDRVDSWTPFYQRGHN
STFFGNVNESAVVRHDLHFHFTARYIRIVPLAWNPRGKIGLRLGLYGCPYKADILYFDGD
DAISYRFPRGVSRSLWDVFAFSFKTEEKDGLLLHAEGAQGDYVTLELEGAHLLLHMSLGS
SPIQPRPGHTTVSAGGVLNDQHWHYVRVDRFGRDVNFTLDGYVQRFILNGDFERLNLDTE
MFIGGLVGAARKNLAYRHNFRGCIENVIFNRVNIADLAVRRHSRITFEGKVAFRCLDPVP
HPINFGGPHNFVQVPGFPRRGRLAVSFRFRTWDLTGLLLFSRLGDGLGHVELTLSEGQVN
VSIAQSGRKKLQFAAGYRLNDGFWHEVNFVAQENHAVISIDDVEGAEVRVSYPLLIRTGT
SYFFGGCPKPASRWDCHSNQTAFHGCMELLKVDGQLVNLTLVEGRRLGFYAEVLFDTCGI
TDRCSPNMCEHDGRCYQSWDDFICYCELTGYKGETCHTPLYKESCEAYRLSGKTSGNFTI
DPDGSGPLKPFVVYCDIRENRAWTVVRHDRLWTTRVTGSSMERPFLGAIQYWNASWEEVS
ALANASQHCEQWIEFSCYNSRLLNTAGGYPYSFWIGRNEEQHFYWGGSQPGIQRCACGLD
RSCVDPALYCNCDADQPQWRTDKGLLTFVDHLPVTQVVIGDTNRSTSEAQFFLRPLRCYG
DRNSWNTISFHTGAALRFPPIRANHSLDVSFYFRTSAPSGVFLENMGGPYCQWRRPYVRV
ELNTSRDVVFAFDVGNGDENLTVHSDDFEFNDDEWHLVRAEINVKQARLRVDHRPWVLRP
MPLQTYIWMEYDQPLYVGSAELKRRPFVGCLRAMRLNGVTLNLEGRANASEGTSPNCTGH
CAHPRLPCFHGGRCVERYSYYTCDCDLTAFDGPYCNHDIGGFFEPGTWMRYNLQSALRSA
AREFSHMLSRPVPGYEPGYIPGYDTPGYVPGYHGPGYRLPDYPRPGRPVPGYRGPVYNVT
GEEVSFSFSTSSAPAVLLYVSSFVRDYMAVLIKDDGTLQLRYQLGTSPYVYQLTTRPVTD
GQPHSINITRVYRNLFIQVDYFPLTEQKFSLLVDSQLDSPKALYLGRVMETGVIDPEIQR
YNTPGFSGCLSGVRFNNVAPLKTHFRTPRPMTAELAEALRVQGELSESNCGAMPRLVSEV
PPELDPWYLPPDFPYYHDEGWVAILLGFLVAFLLLGLVGMLVLFYLQNHRYKGSYHTNEP
KAAHEYHPGSKPPLPTSGPAQVPTPTAAPNQAPASAPAPAPTPAPAPGPRDQNLPQILEE
SRSE
NT seq 4155 nt   +upstreamnt  +downstreamnt
atgatgcatctccggctcttctgcatcctgctcgccgcggtctcaggagccgagggctgg
ggctactacggctgcgacgaggagctggtgggtcccctgtatgcacgctccctgggcgcc
tcctcctactacagtctccttactgcgccgagattcgccaggctgcacggcataagcggg
tggtcaccacggattggggatccgaatccctggctccagatagacttaatgaagaagcac
cggatccgggccgtggccacacagggctcctttaattcttgggactgggtcacacgttac
atgctactctacggcgaccgagtggacagctggacaccgttctaccagcgagggcacaac
tcgaccttctttggtaacgtgaacgagtcggcggtggtgcgccatgacctgcacttccac
ttcactgcgcgctacatccgcatcgtgcccctggcctggaacccacgcggcaagatcggc
ctgaggctcggcctctatggctgcccatacaaggccgacatactctatttcgacggcgac
gatgccatctcctaccgcttcccgcgaggggtcagccgaagcctgtgggacgtgttcgcc
ttcagcttcaagaccgaggagaaggacggtcttctgctgcacgccgagggcgcccagggc
gactacgtgacgctcgagctggagggggcacacctgctgctgcacatgagcctgggcagc
agccctatccagccaagaccaggtcacaccaccgtgagcgcaggcggagtcctcaatgac
cagcactggcactatgtgcgggtggaccgatttggccgcgatgtaaatttcaccctggac
ggctatgtgcagcgctttattctcaatggagacttcgagaggctgaacctggacactgag
atgttcatcggaggtctggtgggcgccgcgcggaagaacctggcctatcggcataacttc
cgcggctgcatagaaaacgtaatcttcaaccgcgtcaacatcgcagacctggccgtgcgg
cgccattcccggatcaccttcgagggtaaggtggcttttcgttgcctggacccggtaccg
caccctatcaacttcggaggccctcacaacttcgttcaagtgcccggtttcccacgccgt
ggccgcctggcagtctcatttcgcttccgcacctgggacctcaccgggcttctccttttc
tcccgtctgggggacgggctgggccacgtggagctgacgctcagcgaagggcaggtcaac
gtgtccatcgcgcagagcggccgaaagaagcttcagttcgctgctgggtaccgactgaat
gacggcttttggcacgaggtgaattttgtggcacaggaaaaccatgcagttatcagcatt
gatgatgtggaaggggcagaggtcagggtctcatacccgttgctgatccggacagggacc
tcatatttctttgggggttgtcccaagccagccagtcgatgggactgccactccaaccag
acggcattccatggctgcatggagctgctcaaggtggatggtcaactggtcaacctgact
ctggtggagggccggcggcttggattctatgctgaggtcctctttgatacatgtggcatc
actgataggtgcagccctaacatgtgtgagcatgatggacgctgctaccagtcttgggat
gacttcatttgctactgcgaactgacgggctacaagggagagacctgccacacacctttg
tataaggaatcctgtgaggcttatcggctcagtgggaaaacttctggaaacttcaccatt
gatcctgatggcagtggccccctgaagccatttgtagtgtactgtgatatccgagagaac
cgagcgtggacagttgtgcggcatgacaggctgtggacaactcgagtgacaggttccagc
atggagcggccattcctgggggctatccagtactggaatgcatcctgggaggaagtcagt
gcccttgccaatgcttcccagcattgtgaacagtggatcgagttctcctgctacaattcc
cggctgctcaacactgcaggaggctacccctacagcttttggattggccgaaatgaggag
cagcacttctactggggaggctcccagcctgggatccagcgctgtgcctgtggtctggac
cggagctgtgtggaccctgccttgtactgcaactgtgacgctgaccagccccagtggaga
actgacaagggactgctgacctttgtggaccatctgcctgtcactcaggtagtgataggg
gatacgaaccgctccacttctgaggcccagttcttcctgaggcctctgcgctgctatggc
gatcgaaattcctggaacaccatttccttccacaccggggctgcactacgcttcccccca
atccgtgccaaccacagcctggatgtctccttctacttcaggacctctgctccctcgggg
gtcttcctagagaatatggggggcccttactgccagtggcgccgaccttatgtgcgggtg
gaactcaacacatcccgggatgtggtcttcgcctttgatgtggggaatggggatgagaac
ctcacagtacactcagacgactttgagttcaatgatgacgagtggcacctggtccgggct
gaaatcaacgtgaagcaggcccggctccgagtggatcaccggccctgggttctgcggcct
atgccactgcagacctacatctggatggagtatgaccagcccctctatgtgggatctgca
gagcttaagagacgcccctttgtgggttgcttgagggccatgcgtctgaacggagtgact
ctgaacctggagggccgtgccaatgcctctgagggtacctcacccaactgcacaggccac
tgtgcccaccctcggctcccctgtttccatggaggccgctgcgtggagcgctatagctac
tacacgtgtgactgtgacctcacggcttttgatgggccatactgcaaccacgatattggt
ggtttctttgagccgggcacctggatgcgctataacctacagtcagcgctgcgctctgca
gccagggagttctcccacatgctgagccggccagtgccaggctatgagcctggctacatc
ccgggctatgatactccgggctatgtgcctggctaccatggccccgggtaccgcctgccc
gactacccccggcctggtcggcctgtgcccggttaccgtgggcctgtctacaacgttacg
ggagaggaggtctccttcagcttcagcaccagctccgcccctgctgtcctgctctacgtc
agttcctttgttcgtgactacatggctgtgctcatcaaggatgatgggacccttcagctg
cgatatcagctgggcaccagtccctacgtgtaccagctaaccactcgaccagtgaccgat
ggccagccccatagcatcaatatcacccgtgtttaccggaacctcttcatccaggtggac
tacttcccactgacagagcagaagttctcgctgttggtggacagccagttggactcaccc
aaggccttgtatttagggcgtgtgatggagacaggagtcattgacccggagatccagcgc
tacaacaccccaggtttctcaggctgcctgtctggtgttcgattcaacaacgtggctccc
ctcaagacccacttccgaacccctcgacccatgactgctgagctagctgaggcccttcga
gttcagggagaactgtccgaatctaattgcggagctatgccacgtcttgtttcagaggtg
ccacctgagcttgatccctggtatctgcccccagacttcccctactaccatgatgaagga
tgggttgccatacttttaggctttttggtggcctttctgctgctggggctggtgggaatg
ttggtgctcttctatctgcaaaatcatcgctataagggctcctaccataccaatgagccc
aaggctgcccacgagtaccatcctggcagcaaacctcccctacccacttcaggccctgcc
caggtccccacccctacagcagctcccaaccaagctccagcctcagccccagccccagcc
ccaactccagccccagcccctggcccccgggatcagaacctaccccagatcctggaggag
tccaggtctgaatga

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