KEGG   Homo sapiens (human): 2549
Entry
2549              CDS       T01001                                 
Symbol
GAB1, DFNB26
Name
(RefSeq) GRB2 associated binding protein 1
  KO
K09593  GRB2-associated-binding protein 1
Organism
hsa  Homo sapiens (human)
Pathway
hsa01521  EGFR tyrosine kinase inhibitor resistance
hsa04012  ErbB signaling pathway
hsa04014  Ras signaling pathway
hsa04072  Phospholipase D signaling pathway
hsa04722  Neurotrophin signaling pathway
hsa05100  Bacterial invasion of epithelial cells
hsa05205  Proteoglycans in cancer
hsa05211  Renal cell carcinoma
hsa05225  Hepatocellular carcinoma
hsa05226  Gastric cancer
Network
nt06214  PI3K signaling (cancer)
nt06261  Gastric cancer
nt06263  Hepatocellular carcinoma
nt06264  Renal cell carcinoma
nt06266  Non-small cell lung cancer
nt06526  MAPK signaling
  Element
N00043  HGF-MET-PI3K signaling pathway
N00044  Mutation-activated MET to PI3K signaling pathway
N00247  HGF-overexpression to PI3K signaling pathway
N00249  MET-overexpression to PI3K signaling pathway
N00260  Amplified MET to PI3K signaling pathway
N01063  Mutation-activated MET to PI3K signaling pathway
N01595  Regulation of GF-RTK-RAS-ERK signaling pathway, adaptor proteins
Disease
H00605  Deafness, autosomal recessive
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09130 Environmental Information Processing
  09132 Signal transduction
   04012 ErbB signaling pathway
    2549 (GAB1)
   04014 Ras signaling pathway
    2549 (GAB1)
   04072 Phospholipase D signaling pathway
    2549 (GAB1)
 09150 Organismal Systems
  09156 Nervous system
   04722 Neurotrophin signaling pathway
    2549 (GAB1)
 09160 Human Diseases
  09161 Cancer: overview
   05205 Proteoglycans in cancer
    2549 (GAB1)
  09162 Cancer: specific types
   05225 Hepatocellular carcinoma
    2549 (GAB1)
   05226 Gastric cancer
    2549 (GAB1)
   05211 Renal cell carcinoma
    2549 (GAB1)
  09171 Infectious disease: bacterial
   05100 Bacterial invasion of epithelial cells
    2549 (GAB1)
  09176 Drug resistance: antineoplastic
   01521 EGFR tyrosine kinase inhibitor resistance
    2549 (GAB1)
 09180 Brite Hierarchies
  09183 Protein families: signaling and cellular processes
   04990 Domain-containing proteins not elsewhere classified [BR:hsa04990]
    2549 (GAB1)
Domain-containing proteins not elsewhere classified [BR:hsa04990]
 Pleckstrin homology (PH) domain-containing proteins
  Grb-2 associated binder (Gab) family proteins
   2549 (GAB1)
SSDB
Motif
Pfam: PH PH_11 PH_8 PH_2
Other DBs
NCBI-GeneID: 2549
NCBI-ProteinID: NP_002030
OMIM: 604439
HGNC: 4066
Ensembl: ENSG00000109458
UniProt: Q13480 Q9HA84
Structure
Position
4:143336876..143474565
AA seq 694 aa
MSGGEVVCSGWLRKSPPEKKLKRYAWKRRWFVLRSGRLTGDPDVLEYYKNDHAKKPIRII
DLNLCQQVDAGLTFNKKEFENSYIFDINTIDRIFYLVADSEEEMNKWVRCICDICGFNPT
EEDPVKPPGSSLQAPADLPLAINTAPPSTQADSSSATLPPPYQLINVPPHLETLGIQEDP
QDYLLLINCQSKKPEPTRTHADSAKSTSSETDCNDNVPSHKNPASSQSKHGMNGFFQQQM
IYDSPPSRAPSASVDSSLYNLPRSYSHDVLPKVSPSSTEADGELYVFNTPSGTSSVETQM
RHVSISYDIPPTPGNTYQIPRTFPEGTLGQTSKLDTIPDIPPPRPPKPHPAHDRSPVETC
SIPRTASDTDSSYCIPTAGMSPSRSNTISTVDLNKLRKDASSQDCYDIPRAFPSDRSSSL
EGFHNHFKVKNVLTVGSVSSEELDENYVPMNPNSPPRQHSSSFTEPIQEANYVPMTPGTF
DFSSFGMQVPPPAHMGFRSSPKTPPRRPVPVADCEPPPVDRNLKPDRKVKPAPLEIKPLP
EWEELQAPVRSPITRSFARDSSRFPMSPRPDSVHSTTSSSDSHDSEENYVPMNPNLSSED
PNLFGSNSLDGGSSPMIKPKGDKQVEYLDLDLDSGKSTPPRKQKSSGSGSSVADERVDYV
VVDQQKTLALKSTREAWTDGRQSTESETPAKSVK
NT seq 2085 nt   +upstreamnt  +downstreamnt
atgagcggtggtgaagtggtctgctccggatggctccgcaagtcccccccggagaaaaag
ttgaagcgttatgcatggaagaggagatggttcgtgttacgcagtggccgtttaactgga
gatccagatgttttggaatattacaaaaatgatcatgccaagaagcctattcgtattatt
gatttaaatttatgtcaacaagtagatgctggattgacatttaacaaaaaagagtttgaa
aacagctacatttttgatatcaacactattgaccggattttctacttggtagcagacagc
gaggaggagatgaataagtgggttcgttgtatttgtgacatctgtgggtttaatccaaca
gaagaagatcctgtgaagccacctggcagctctttacaagcaccagctgatttaccttta
gctataaatacagcaccaccatccacccaggcagattcatcctctgctactctacctcct
ccatatcagctaatcaatgttccaccacacctggaaactcttggcattcaggaggatcct
caagactacctgttgctcatcaactgtcaaagcaagaagcccgaacccaccagaacgcat
gctgattctgcaaaatccacctcttctgaaacagactgcaatgataacgtcccttctcat
aaaaatcctgcttcctcccagagcaaacatggaatgaatggcttttttcagcagcaaatg
atatacgactctccaccttcacgtgccccatctgcttcagttgactccagcctttataac
ctgcccaggagttattcccatgatgttttaccaaaggtgtctccatcaagtactgaagca
gatggagaactctatgtttttaataccccatctgggacatcgagtgtagagactcaaatg
aggcatgtatctattagttatgacattcctccaacacctggtaatacttatcagattcca
cgaacatttccagaaggaaccttgggacagacatcaaagctagacactattccagatatt
cctccacctcggccaccgaaaccacatccagctcatgaccgatctcctgtggaaacgtgt
agtatcccacgcaccgcctcagacactgacagtagttactgtatccctacagcagggatg
tcgccttcacgtagtaataccatttccactgtggatttaaacaaattgcgaaaagatgct
agttctcaagactgctatgatattccacgagcatttccaagtgatagatctagttcactt
gaaggcttccataaccactttaaagtcaaaaatgtgttgacagtgggaagtgtttcaagt
gaagaactggatgaaaattacgtcccaatgaatcccaattcaccaccacgacaacattcc
agcagttttacagaaccaattcaggaagcaaattatgtgccaatgactccaggaacattt
gatttttcctcatttggaatgcaagttcctcctcctgctcatatgggcttcaggtccagc
ccaaaaacccctcccagaaggccagttcctgttgcagactgtgaaccaccccccgtggat
aggaacctcaagccagacagaaaagtcaagccagcgcctttagaaataaaacctttgcca
gaatgggaagaattacaagccccagttagatctcccatcactaggagttttgctcgagac
tcttccaggtttcccatgtccccccgaccagattcagtgcatagcacaacttcaagcagt
gactcacacgacagtgaagagaattatgttcccatgaacccaaacctgtccagtgaagac
ccaaatctctttggcagtaacagtcttgatggaggaagcagccctatgatcaagcccaaa
ggagacaaacaggtggaatacttagatctcgacttagattctgggaaatccacaccacca
cgtaagcaaaagagcagtggctcaggcagcagtgtagcagatgagagagtggattatgtt
gttgttgaccaacagaagaccttggctctaaagagtacccgggaagcctggacagatggg
agacagtccacagaatcagaaacgccagcgaagagtgtgaaatga

  All links  
Disease (2)   
   OMIM (2)   
Gene (10)   
   RefGene (3)   
   NCBI-PROTEINID (1)   
   NCBI-Gene (1)   
   HGNC (1)   
   Ensembl (1)   
   RIKEN BRC-DNA (2)   
   OC (1)   
Protein sequence (32)   
   UniProt (2)   
   SWISS-PROT (1)   
   RefSeq(pep) (29)   
DNA sequence (53)   
   RefSeq(nuc) (29)   
   GenBank (12)   
   EMBL (12)   
3D Structure (1)   
   PDB (1)   
Protein domain (4)   
   Pfam (4)   
All databases (102)   

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