Homo sapiens (human): 8831
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Entry
8831 CDS
T01001
Symbol
SYNGAP1, MRD5, RASA1, RASA5, SYNGAP
Name
(RefSeq) synaptic Ras GTPase activating protein 1
KO
K17631
Ras/Rap GTPase-activating protein SynGAP
Organism
hsa
Homo sapiens (human)
Pathway
hsa04014
Ras signaling pathway
Disease
H00773
Autosomal dominant intellectual developmental disorder
Brite
KEGG Orthology (KO) [BR:
hsa00001
]
09130 Environmental Information Processing
09132 Signal transduction
04014 Ras signaling pathway
8831 (SYNGAP1)
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Gene cluster
GFIT
Motif
Pfam:
DAB2P_C
RasGAP
C2
PH
Exonuc_VII_L
Motif
Other DBs
NCBI-GeneID:
8831
NCBI-ProteinID:
NP_006763
OMIM:
603384
HGNC:
11497
Ensembl:
ENSG00000197283
UniProt:
Q96PV0
A0A1U9X8L0
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All DBs
Position
6:33418167..33453689
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AA seq
1343 aa
AA seq
DB search
MSRSRASIHRGSIPAMSYAPFRDVRGPSMHRTQYVHSPYDRPGWNPRFCIISGNQLLMLD
EDEIHPLLIRDRRSESSRNKLLRRTVSVPVEGRPHGEHEYHLGRSRRKSVPGGKQYSMEG
APAAPFRPSQGFLSRRLKSSIKRTKSQPKLDRTSSFRQILPRFRSADHDRARLMQSFKES
HSHESLLSPSSAAEALELNLDEDSIIKPVHSSILGQEFCFEVTTSSGTKCFACRSAAERD
KWIENLQRAVKPNKDNSRRVDNVLKLWIIEARELPPKKRYYCELCLDDMLYARTTSKPRS
ASGDTVFWGEHFEFNNLPAVRALRLHLYRDSDKKRKKDKAGYVGLVTVPVATLAGRHFTE
QWYPVTLPTGSGGSGGMGSGGGGGSGGGSGGKGKGGCPAVRLKARYQTMSILPMELYKEF
AEYVTNHYRMLCAVLEPALNVKGKEEVASALVHILQSTGKAKDFLSDMAMSEVDRFMERE
HLIFRENTLATKAIEEYMRLIGQKYLKDAIGEFIRALYESEENCEVDPIKCTASSLAEHQ
ANLRMCCELALCKVVNSHCVFPRELKEVFASWRLRCAERGREDIADRLISASLFLRFLCP
AIMSPSLFGLMQEYPDEQTSRTLTLIAKVIQNLANFSKFTSKEDFLGFMNEFLELEWGSM
QQFLYEISNLDTLTNSSSFEGYIDLGRELSTLHALLWEVLPQLSKEALLKLGPLPRLLND
ISTALRNPNIQRQPSRQSERPRPQPVVLRGPSAEMQGYMMRDLNSSIDLQSFMARGLNSS
MDMARLPSPTKEKPPPPPPGGGKDLFYVSRPPLARSSPAYCTSSSDITEPEQKMLSVNKS
VSMLDLQGDGPGGRLNSSSVSNLAAVGDLLHSSQASLTAALGLRPAPAGRLSQGSGSSIT
AAGMRLSQMGVTTDGVPAQQLRIPLSFQNPLFHMAADGPGPPGGHGGGGGHGPPSSHHHH
HHHHHHRGGEPPGDTFAPFHGYSKSEDLSSGVPKPPAASILHSHSYSDEFGPSGTDFTRR
QLSLQDNLQHMLSPPQITIGPQRPAPSGPGGGSGGGSGGGGGGQPPPLQRGKSQQLTVSA
AQKPRPSSGNLLQSPEPSYGPARPRQQSLSKEGSIGGSGGSGGGGGGGLKPSITKQHSQT
PSTLNPTMPASERTVAWVSNMPHLSADIESAHIEREEYKLKEYSKSMDESRLDRVKEYEE
EIHSLKERLHMSNRKLEEYERRLLSQEEQTSKILMQYQARLEQSEKRLRQQQAEKDSQIK
SIIGRLMLVEEELRRDHPAMAEPLPEPKKRLLDAQERQLPPLGPTNPRVTLAPPWNGLAP
PAPPPPPRLQITENGEFRNTADH
NT seq
4032 nt
NT seq
+upstream
nt +downstream
nt
atgagcaggtctcgagcctccatccatcgggggagcatccccgcgatgtcctatgccccc
ttcagagatgtacggggaccctctatgcaccgaacccaatacgttcattccccgtatgat
cgtcctggttggaaccctcggttctgcatcatctcggggaaccagctgctcatgctggat
gaggatgagatacaccccctactgatccgggaccggaggagcgagtccagtcgcaacaaa
ctgctgagacgcacagtctccgtgccggtggaggggcggccccacggcgagcatgaatac
cacttgggtcgctcgaggaggaagagtgtcccaggggggaagcagtacagcatggagggt
gcccctgctgcgcccttccggccctcgcaaggcttcctgagccgacggctaaaaagctcc
atcaaacgaacgaagtcacaacccaaacttgaccggaccagcagctttcgccagatcctg
cctcgcttccgaagtgctgaccatgaccgggcccggctgatgcaaagctttaaggagtca
cactctcatgagtccttgctgagtcctagcagtgcagctgaggcattggagctcaacttg
gatgaagattccattatcaagccagtgcacagctccatcctgggccaggagttctgtttt
gaggtaacaacttcatcaggaacaaaatgctttgcctgtcggtctgcggccgaaagagac
aaatggattgagaatctgcagcgggcagtaaagcccaacaaggacaacagccgccgggta
gacaatgtgctaaagctgtggatcatagaggcccgggagctgccccccaagaagcggtac
tactgtgagctctgcctggatgacatgctgtatgcacgcaccacctccaagccccgctct
gcctctggggacaccgtcttctggggcgagcacttcgagtttaacaacctgccggctgtc
cgtgccctgcggctgcatctgtaccgtgactcagacaaaaagcgcaagaaggacaaggca
ggctatgtcggcctggtgactgtgccagtggccaccctggctgggcgccacttcacagag
cagtggtaccctgtaaccctgccaacaggcagtgggggatctgggggcatgggttcggga
gggggagggggctcggggggtggctcagggggcaagggcaaaggaggttgcccggctgtg
cggctgaaagcacgttaccagacaatgagcatcttgcccatggagctatataaagagttt
gcagagtatgtcaccaaccattatcggatgctgtgtgcagtcttggagcccgccctgaat
gtcaaaggcaaggaggaggttgccagtgcactagttcacatcctgcagagtacaggcaag
gccaaggacttcctttcagacatggccatgtctgaggtagaccggttcatggaacgggag
cacctcatattccgcgagaacacgcttgccactaaagccatagaagagtatatgagactg
attggtcagaaatacctcaaggatgccattggagaattcatccgtgctctgtatgaatct
gaggaaaactgcgaggtagaccctatcaagtgcacagcatccagtttggcagagcaccag
gccaacctgcgaatgtgctgtgagttggccctgtgcaaggtggtcaactcccactgcgtg
ttcccgagggagctgaaggaggtgtttgcttcgtggcggctgcgctgcgcagagcgaggc
cgggaggacatcgcagacaggcttatcagcgcctcactcttcctgcgcttcctctgccca
gcgattatgtcgcccagtctctttgggcttatgcaggagtacccagatgagcagacctca
cgaaccctcaccctcattgccaaggtcatccagaacctggccaacttttccaagtttacc
tcaaaggaggactttctgggcttcatgaatgagtttctggagctggaatggggttccatg
cagcagtttttgtatgagatctccaatctggacacgctaaccaacagcagtagctttgag
ggttacatcgacttgggccgagagctctccacactgcatgccctactctgggaggtgctg
ccccagctcagcaaggaagccctcctgaagctgggtccactgccccggctcctcaacgac
atcagcacagctctgaggaaccccaacatccaaaggcagccaagccgccagagtgagcgg
ccccggcctcagcctgtggtactgcgggggccatcggctgagatgcagggctacatgatg
cgggacctcaacagctccatcgaccttcagtccttcatggctcgaggcctcaacagctct
atggacatggctcgcctcccctccccaaccaaggaaaagccacccccaccaccgcctggt
ggtggtaaagacctgttctatgtaagccgtccacccctggcccgttcctcaccagcatac
tgcacgagcagctcggacatcacagagccagagcagaagatgctgagtgtcaacaagagt
gtgtccatgctggacttacagggtgatgggcctggtggccgcctcaacagcagcagtgtt
tcgaacctggcggccgtaggggacctgctgcactcaagccaggcctcgctgacagcagcc
ttggggctacggcctgcgcctgccggacgcctctcccaggggagtggctcatccatcacg
gcggctggcatgcgcctcagccagatgggtgtcaccacagacggtgtccctgcccagcaa
ctgcgaatccccctctccttccagaaccctctcttccacatggctgctgatgggccaggt
cccccaggcggccatggagggggcggtggccatggcccaccttcctcccatcaccaccac
caccaccatcaccaccaccgaggtggagagccccctggggacacctttgccccattccat
ggctatagcaagagtgaggacctctcttccggggtccccaagccccctgctgcctccatc
cttcatagccacagctacagtgatgagtttggaccctctggcactgacttcacccgtcgg
cagctttcactccaggacaacctgcagcacatgctgtcccctccccagatcaccattggt
ccccagaggccagccccctcagggcctggaggtgggagcggtgggggcagcggtgggggt
ggcgggggccagccgcctccattgcagaggggcaagtctcagcagttgacagtcagcgca
gcccagaaaccccggccatccagcgggaatctattgcagtccccagagccaagttatggc
cccgcccgtccacggcaacagagcctcagcaaggagggcagcattgggggcagcgggggc
agcggtggcggagggggtggggggctgaagccctccatcaccaagcagcattctcagaca
ccatccacattgaaccccacaatgccagcctctgagcggacagtggcctgggtctccaac
atgcctcacctgtcggctgacatcgagagtgcccacatcgagcgggaagagtacaagctc
aaggagtactcaaaatcgatggatgagagccggctggatagggtgaaggagtacgaggag
gagattcactcactgaaagagcggctgcacatgtccaaccggaagctggaagagtatgag
cggaggctgctgtcccaggaagaacaaaccagcaaaatcctgatgcagtatcaggcccga
ctggagcagagtgagaagaggctaaggcagcagcaggcagagaaggattcccagatcaag
agcatcattggcaggctgatgctggtggaggaggagctgcgccgggaccaccccgccatg
gctgagccgctgccagaacccaagaagaggctgctcgacgctcaggagaggcagcttccc
cccttgggtccaacaaacccgcgtgtgacgctggccccaccgtggaatggcctggccccc
ccagccccaccacccccaccccggctgcagattacggagaacggcgagttccgaaacacc
gcagaccactag
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