KEGG   Homo sapiens (human): 5921Help
Entry
5921              CDS       T01001                                 

Gene name
RASA1, CM-AVM, CMAVM, GAP, PKWS, RASA, RASGAP, p120, p120GAP, p120RASGAP
Definition
(RefSeq) RAS p21 protein activator 1
  KO
K04352  Ras GTPase-activating protein 1
Organism
hsa  Homo sapiens (human)
Pathway
hsa04010  MAPK signaling pathway
hsa04014  Ras signaling pathway
hsa04360  Axon guidance
Disease
H00532  Parkes Weber syndrome
H02043  Capillary malformation-arteriovenous malformation
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09130 Environmental Information Processing
  09132 Signal transduction
   04014 Ras signaling pathway
    5921 (RASA1)
   04010 MAPK signaling pathway
    5921 (RASA1)
 09150 Organismal Systems
  09158 Development
   04360 Axon guidance
    5921 (RASA1)
BRITE hierarchy
SSDB OrthologParalogGFIT
Motif
Pfam: SH2 RasGAP PH C2 SH3_1 SH3_9 SH2_2 PH_11 SH3_2
Motif
Other DBs
NCBI-GeneID: 5921
NCBI-ProteinID: NP_002881
OMIM: 139150
HGNC: 9871
Ensembl: ENSG00000145715
Vega: OTTHUMG00000162605
Pharos: P20936(Tbio)
UniProt: P20936 Q59GK3
Structure
PDB: 

Position
5q14.3
AA seq 1047 aa AA seqDB search
MMAAEAGSEEGGPVTAGAGGGGAAAGSSAYPAVCRVKIPAALPVAAAPYPGLVETGVAGT
LGGGAALGSEFLGAGSVAGALGGAGLTGGGTAAGVAGAAAGVAGAAVAGPSGDMALTKLP
TSLLAETLGPGGGFPPLPPPPYLPPLGAGLGTVDEGDSLDGPEYEEEEVAIPLTAPPTNQ
WYHGKLDRTIAEERLRQAGKSGSYLIRESDRRPGSFVLSFLSQMNVVNHFRIIAMCGDYY
IGGRRFSSLSDLIGYYSHVSCLLKGEKLLYPVAPPEPVEDRRRVRAILPYTKVPDTDEIS
FLKGDMFIVHNELEDGWMWVTNLRTDEQGLIVEDLVEEVGREEDPHEGKIWFHGKISKQE
AYNLLMTVGQVCSFLVRPSDNTPGDYSLYFRTNENIQRFKICPTPNNQFMMGGRYYNSIG
DIIDHYRKEQIVEGYYLKEPVPMQDQEQVLNDTVDGKEIYNTIRRKTKDAFYKNIVKKGY
LLKKGKGKRWKNLYFILEGSDAQLIYFESEKRATKPKGLIDLSVCSVYVVHDSLFGRPNC
FQIVVQHFSEEHYIFYFAGETPEQAEDWMKGLQAFCNLRKSSPGTSNKRLRQVSSLVLHI
EEAHKLPVKHFTNPYCNIYLNSVQVAKTHAREGQNPVWSEEFVFDDLPPDINRFEITLSN
KTKKSKDPDILFMRCQLSRLQKGHATDEWFLLSSHIPLKGIEPGSLRVRARYSMEKIMPE
EEYSEFKELILQKELHVVYALSHVCGQDRTLLASILLRIFLHEKLESLLLCTLNDREISM
EDEATTLFRATTLASTLMEQYMKATATQFVHHALKDSILKIMESKQSCELSPSKLEKNED
VNTNLTHLLNILSELVEKIFMASEILPPTLRYIYGCLQKSVQHKWPTNTTMRTRVVSGFV
FLRLICPAILNPRMFNIISDSPSPIAARTLILVAKSVQNLANLVEFGAKEPYMEGVNPFI
KSNKHRMIMFLDELGNVPELPDTTEHSRTDLSRDLAALHEICVAHSDELRTLSNERGAQQ
HVLKKLLAITELLQQKQNQYTKTNDVR
NT seq 3144 nt NT seq  +upstreamnt  +downstreamnt
atgatggcggccgaggccggcagtgaggagggcggcccggtaacagccggagctggagga
ggcggcgcggcagcgggctccagtgcctatcccgcagtgtgtcgggtgaagatacccgcg
gccctgcctgtggcagccgccccctatcctgggctggtggagaccggagtggctggaact
ctgggtggcggagccgctttggggtcagagttcctaggagccgggtctgtggcaggggca
ctggggggagctggactgacagggggaggtactgctgctggcgtagctggtgctgctgct
ggcgtggccggtgctgctgttgctggacctagtggagacatggctctcaccaaactgccc
acttcgttgcttgctgagactctcgggccaggcggcggttttccccctctgccccctccc
ccttacctgccccctttgggggcgggcctcgggacagtggacgaaggtgactctctggat
ggaccagaatacgaggaggaagaggtggccataccgttgaccgctcctccaactaaccag
tggtatcacggaaaacttgacagaacgatagcagaagaacgcctcaggcaggcagggaag
tctggcagttatcttataagagagagtgatcggaggccagggtcctttgtactttcattt
cttagccagatgaatgttgtcaaccattttaggattattgctatgtgtggagattactac
attggtggaagacgtttttcttcactgtcagacctaataggttattacagtcatgtttct
tgtttgcttaaaggagaaaaattactttacccagttgcaccaccagagccagtagaagat
agaaggcgtgtacgagctattctaccttacacaaaagtaccagacactgatgaaataagt
ttcttaaaaggagatatgttcattgttcataatgaattagaagatggatggatgtgggtt
acaaatttaagaacagatgaacaaggccttattgttgaagacctagtagaagaggtgggc
cgggaagaagatccacatgaaggaaaaatatggttccatgggaagatttccaaacaggaa
gcttataatttactaatgacagttggtcaagtctgcagttttcttgtgaggccctcagat
aatactcctggcgattattcactttatttccggaccaatgaaaatattcagcgatttaaa
atatgtccaacgccaaacaatcagtttatgatgggaggccggtattataacagcattggg
gacatcatagatcactatcgaaaagaacagattgttgaaggatattatcttaaggaacct
gtaccaatgcaggatcaagaacaagtactcaatgacacagtggatggcaaggaaatctat
aataccatccgtcgtaaaacaaaggatgccttttataaaaacattgttaagaaaggttat
cttctgaaaaagggcaaaggaaaacgttggaaaaatttatattttatcttagagggtagt
gatgcccaacttatttattttgaaagcgaaaaacgagctaccaaaccaaaaggattaata
gatctcagtgtatgttctgtctatgtcgttcatgatagtctctttggcaggccaaactgt
tttcagatagtagttcagcactttagtgaagaacattacatcttttactttgcaggagaa
actccagaacaagcagaggattggatgaaaggtctgcaggcattttgcaatttacggaaa
agtagtccagggacatccaataaacgccttcgtcaggtcagcagccttgttttacatatt
gaagaagcccataaactcccagtaaaacattttactaatccatattgtaacatctacctg
aatagtgtccaagtagcaaaaactcatgcaagggaagggcaaaacccagtatggtcagaa
gagtttgtctttgatgatcttcctcctgacatcaatagatttgaaataactcttagtaat
aaaacaaagaaaagcaaagatcctgatatcttatttatgcgctgccagttgagccgatta
cagaaagggcatgccacagatgaatggtttctgctcagctcccatataccattaaaaggt
attgaaccagggtccctgcgtgttcgagcacgatactctatggaaaaaatcatgccagaa
gaagagtacagtgaatttaaagagcttatactgcaaaaggaacttcatgtagtctatgct
ttatcacatgtatgtggacaagaccgaacactactggccagcatcctactgaggattttt
cttcacgaaaagcttgaatcgttgttgttatgcacactaaatgacagagaaataagcatg
gaagatgaagccactaccctatttcgagccacaacacttgcaagcaccttgatggagcag
tatatgaaagccactgctacacagtttgttcatcatgctttgaaagactctattttaaag
ataatggaaagcaagcagtcttgtgagttaagtccatcaaagttagaaaaaaatgaagat
gtgaacactaatttaacacacctattgaacatactttcagagcttgtggagaaaatattc
atggcttcagaaatacttccaccgacattgagatatatttatgggtgtttacagaaatct
gttcagcataagtggcctacaaataccaccatgagaacaagagttgttagtggttttgtt
tttcttcgactcatctgtcctgccatcctgaatccacggatgttcaatatcatctcagat
tctccatctcctattgctgcaagaacactgatattagtggctaaatctgtgcagaactta
gcaaatcttgtggaatttggagctaaggagccctacatggaaggtgtcaatccattcatc
aaaagcaacaaacatcgtatgatcatgtttttagatgaacttgggaatgtacctgaactt
ccggacactacagagcattctagaacggacctgtcccgtgatttagcagcattgcatgag
atttgcgtggctcattcagatgaacttcgaacgctcagtaatgagcgtggtgcacagcag
cacgtattgaaaaagcttctggctataacagaactgcttcaacaaaaacaaaaccagtat
acaaaaaccaatgatgtcaggtag

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