KEGG T01001: 8831

Homo sapiens (human): 8831

Entry

8831 CDS T01001

Gene name

SYNGAP1, MRD5, RASA1, RASA5, SYNGAP

Definition

synaptic Ras GTPase activating protein 1

Organism

hsa Homo sapiens (human)

Disease

H00773

Non-syndromic autosomal dominant mental retardation

Class

SSDB

Motif

Pfam:

DUF3498 RasGAP PH C2 Hydrophobin_2 Monooxygenase_B PH_6 BAF1_ABF1

Other DBs

NCBI-GI:

NCBI-GeneID:

OMIM:

HGNC:

HPRD:

Ensembl:

Vega:

UniProt:

Position

6p21.3

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

All links

Ontology (1)   
   KEGG BRITE (1)   
Disease (3)   
   KEGG DISEASE (1)   
   OMIM (2)   
Genome (1)   
   KEGG GENOME (1)   
Gene (10)   
   NCBI-Gene (1)   
   NCBI-GI (3)   
   UniGene (1)   
   HGNC (1)   
   HPRD (1)   
   ENSEMBL-HSA (1)   
   OC (1)   
   VEGA (1)   
Protein sequence (2)   
   UniProt (1)   
   RefSeq(pep) (1)   
DNA sequence (18)   
   RefSeq(nuc) (2)   
   GenBank (8)   
   EMBL (8)   
Protein domain (8)   
   Pfam (8)   
All databases (43)   

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