KEGG   Homo sapiens (human): 22930
Entry
22930             CDS       T01001                                 
Symbol
RAB3GAP1, MARTS2, P130, RAB3GAP, RAB3GAP130, WARBM1
Name
(RefSeq) RAB3 GTPase activating protein catalytic subunit 1
  KO
K18270  Rab3 GTPase-activating protein catalytic subunit
Organism
hsa  Homo sapiens (human)
Disease
H00792  Warburg micro syndrome
H00797  Martsolf syndrome
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09180 Brite Hierarchies
  09182 Protein families: genetic information processing
   04131 Membrane trafficking [BR:hsa04131]
    22930 (RAB3GAP1)
  09183 Protein families: signaling and cellular processes
   04147 Exosome [BR:hsa04147]
    22930 (RAB3GAP1)
Membrane trafficking [BR:hsa04131]
 Exocytosis
  Small GTPases and associated proteins
   Rab associated proteins
    22930 (RAB3GAP1)
Exosome [BR:hsa04147]
 Exosomal proteins
  Exosomal proteins of other body fluids (saliva and urine)
   22930 (RAB3GAP1)
SSDB
Motif
Pfam: Rab3-GAP_cat_C Rab3-GTPase_cat
Other DBs
NCBI-GeneID: 22930
NCBI-ProteinID: NP_036365
OMIM: 602536
HGNC: 17063
Ensembl: ENSG00000115839
UniProt: Q15042 B9A6J2
Position
2:135052292..135176396
AA seq 981 aa
MAADSEPESEVFEITDFTTASEWERFISKVEEVLNDWKLIGNSLGKPLEKGIFTSGTWEE
KSDEISFADFKFSVTHHYLVQESTDKEGKDELLEDVVPQSMQDLLGMNNDFPPRAHCLVR
WYGLREFVVIAPAAHSDAVLSESKCNLLLSSVSIALGNTGCQVPLFVQIHHKWRRMYVGE
CQGPGVRTDFEMVHLRKVPNQYTHLSGLLDIFKSKIGCPLTPLPPVSIAIRFTYVLQDWQ
QYFWPQQPPDIDALVGGEVGGLEFGKLPFGACEDPISELHLATTWPHLTEGIIVDNDVYS
DLDPIQAPHWSVRVRKAENPQCLLGDFVTEFFKICRRKESTDEILGRSAFEEEGKETADI
THALSKLTEPASVPIHKLSVSNMVHTAKKKIRKHRGVEESPLNNDVLNTILLFLFPDAVS
EKPLDGTTSTDNNNPPSESEDYNLYNQFKSAPSDSLTYKLALCLCMINFYHGGLKGVAHL
WQEFVLEMRFRWENNFLIPGLASGPPDLRCCLLHQKLQMLNCCIERKKARDEGKKTSASD
VTNIYPGDAGKAGDQLVPDNLKETDKEKGEVGKSWDSWSDSEEEFFECLSDTEELKGNGQ
ESGKKGGPKEMANLRPEGRLYQHGKLTLLHNGEPLYIPVTQEPAPMTEDLLEEQSEVLAK
LGTSAEGAHLRARMQSACLLSDMESFKAANPGCSLEDFVRWYSPRDYIEEEVIDEKGNVV
LKGELSARMKIPSNMWVEAWETAKPIPARRQRRLFDDTREAEKVLHYLAIQKPADLARHL
LPCVIHAAVLKVKEEESLENISSVKKIIKQIISHSSKVLHFPNPEDKKLEEIIHQITNVE
ALIARARSLKAKFGTEKCEQEEEKEDLERFVSCLLEQPEVLVTGAGRGHAGRIIHKLFVN
AQRAAAMTPPEEELKRMGSPEERRQNSVSDFPPPAGREFILRTTVPRPAPYSKALPQRMY
SVLTKEDFRLAGAFSSDTSFF
NT seq 2946 nt   +upstreamnt  +downstreamnt
atggctgccgacagtgagcccgaatccgaggtatttgagatcacggacttcaccactgcc
tcggaatgggaaaggtttatttccaaagttgaagaagtcttgaatgactggaaactgatt
ggaaactctttgggaaagccactcgaaaagggtatatttacttctggcacatgggaagag
aaatcagatgaaatttcctttgctgacttcaagttctcagtcactcatcattatcttgta
caagagtccactgataaagaaggaaaggatgagttattagaggatgttgttccacaatct
atgcaagatttgctgggtatgaataatgactttcctccaagagcacattgcctggtaaga
tggtatgggctacgtgagttcgtggtgattgcccctgctgcacacagtgacgctgttctc
agcgaatctaagtgcaaccttcttctgagttctgtttctattgccttgggaaacactggc
tgtcaggtgccactctttgtgcaaattcaccacaaatggcgaagaatgtatgtaggagaa
tgtcaaggtcctggtgtacgaactgatttcgaaatggttcatcttagaaaagtgccaaat
cagtacactcacttatcaggtctgctggatatcttcaaatcaaagattggatgtccttta
actccattgcctccagttagtattgctattcgatttacctatgtacttcaagattggcag
cagtatttttggcctcagcaacctccagacatagatgcccttgtaggaggagaagttgga
ggcttggagtttggcaagttaccatttggtgcctgcgaagatcctattagtgaactccat
ttagctactacatggcctcatctgaccgaagggatcattgtggataatgatgtttattct
gatttggatcctattcaagctccacattggtctgttagagttcgaaaagctgagaatcct
cagtgtttgctaggtgattttgtcactgaattttttaaaatttgccgtcgaaaggagtca
actgatgagattcttggacgatctgcatttgaggaagaaggcaaagaaactgctgatata
actcatgctttgtcaaaattgacagagccggcatcagttccaattcataaattatcagtt
tcaaatatggtacacactgcaaagaagaaaatccgaaaacacagaggtgtagaggagtca
ccgctaaataatgatgttcttaatactattctcctgttcttattccctgatgctgtttct
gagaaaccattagatggaactacttcaacagataataataatcctccatcagagagtgaa
gactataatctctacaatcagttcaagtctgcaccatctgacagtttaacatacaaactg
gctttgtgtctctgtatgatcaatttttaccatggagggttgaaaggagtggcacacctc
tggcaggaatttgttcttgaaatgcgtttccgatgggaaaacaactttctgattccagga
ttagcaagtggacccccagatctgaggtgttgtttactgcatcagaaactacagatgtta
aattgttgtattgaaagaaagaaggcacgtgatgaggggaaaaagacaagtgcttcagat
gtcactaatatatatccaggggatgctggaaaagcaggagaccagttggtgccagataat
ctaaaagaaacagataaggaaaagggagaggtaggaaaatcttgggattcctggagtgac
agcgaagaagaattttttgaatgcctaagtgatactgaagaacttaaaggaaatggacaa
gagagtggcaagaaaggaggacctaaggagatggcaaatttaaggccggaaggacggctc
tatcagcatgggaaacttacactgctgcataatggagaacctctctacattccagtaacc
caggaaccagcacctatgacagaagatctgctagaagagcagtctgaagttttagctaaa
ttaggtacatcggcagagggggctcaccttcgagcacgcatgcagagtgcctgtctgctc
tcagatatggagtcttttaaggcagctaatccaggttgctccctggaagattttgtgagg
tggtattcaccccgggattatattgaagaggaggtgattgatgaaaagggcaatgtggtg
ctgaaaggagaactgagtgcccggatgaagattccaagcaatatgtgggtagaagcctgg
gaaacagctaagccaattcctgctagaaggcaaaggagactctttgatgatacacgggaa
gcagaaaaggtgctgcactatctggcaatccagaaacctgcagaccttgctcggcacctg
ttaccttgtgtgattcatgcagctgtactcaaggtaaaggaagaagaaagtctcgaaaac
atttcttcagttaagaagatcataaagcagataatatcccattccagtaaagttttgcac
ttccccaatccagaagacaagaaattggaagaaatcattcaccagattactaatgtggaa
gctctcattgccagagctcggtcactaaaagccaagtttggaactgagaaatgtgaacag
gaggaggaaaaggaagatcttgaaaggtttgtgagttgcctgctggagcagcctgaagtg
ttagtcaccggtgcaggaagaggacatgctggcaggatcattcacaagctgtttgtgaat
gcccagagggctgcagctatgactccaccagaggaggaattgaagagaatgggctcccca
gaggaaagaaggcagaactccgtgtcagacttcccaccccctgctggccgggaattcatt
ttgcgcaccactgtgccgcgccctgctccctactccaaagctctgcctcagcggatgtac
agtgttctcaccaaagaggactttagacttgcaggtgccttttcatcagatacttccttc
ttctga

  All links  
Ontology (3)   
   KEGG BRITE (3)   
Disease (5)   
   KEGG DISEASE (2)   
   OMIM (3)   
Genome (1)   
   KEGG GENOME (1)   
Gene (24)   
   KEGG ORTHOLOGY (1)   
   RefGene (15)   
   NCBI-PROTEINID (1)   
   NCBI-Gene (1)   
   HGNC (1)   
   Ensembl (1)   
   RIKEN BRC-DNA (3)   
   OC (1)   
Protein sequence (11)   
   UniProt (2)   
   SWISS-PROT (1)   
   RefSeq(pep) (8)   
DNA sequence (38)   
   RefSeq(nuc) (10)   
   GenBank (14)   
   EMBL (14)   
Protein domain (2)   
   Pfam (2)   
All databases (84)   

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