KEGG   Homo sapiens (human): 8831
Entry
8831              CDS       T01001                                 

Gene name
SYNGAP1, MRD5, RASA1, RASA5, SYNGAP
Definition
(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 mental retardation
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09130 Environmental Information Processing
  09132 Signal transduction
   04014 Ras signaling pathway
    8831 (SYNGAP1)
SSDB
Motif
Pfam: DUF3498 RasGAP C2 PH Exonuc_VII_L PH_2 PH_6
Other DBs
NCBI-GeneID: 8831
NCBI-ProteinID: NP_006763
OMIM: 603384
HGNC: 11497
Ensembl: ENSG00000197283
Vega: OTTHUMG00000031096
Pharos: Q96PV0(Tbio)
UniProt: Q96PV0 A0A1U9X8L0
Position
6p21.32
AA seq 1343 aa
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   +upstreamnt  +downstreamnt
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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Ontology (1)   
   KEGG BRITE (1)   
Pathway (1)   
   KEGG PATHWAY (1)   
Disease (3)   
   KEGG DISEASE (1)   
   OMIM (2)   
Genome (1)   
   KEGG GENOME (1)   
Gene (25)   
   KEGG ORTHOLOGY (1)   
   RefGene (17)   
   NCBI-PROTEINID (1)   
   NCBI-Gene (1)   
   HGNC (1)   
   Ensembl (1)   
   OC (1)   
   PHAROS (1)   
   VEGA (1)   
Protein sequence (5)   
   UniProt (2)   
   SWISS-PROT (1)   
   RefSeq(pep) (2)   
DNA sequence (18)   
   RefSeq(nuc) (2)   
   GenBank (8)   
   EMBL (8)   
Protein domain (7)   
   Pfam (7)   
All databases (61)   

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