KEGG   Homo sapiens (human): 1600
Entry
1600              CDS       T01001                                 

Gene name
DAB1, SCA37
Definition
(RefSeq) DAB adaptor protein 1
  KO
K20054  disabled homolog 1
Organism
hsa  Homo sapiens (human)
Pathway
hsa05017  Spinocerebellar ataxia
Network
nt06415  PI3K signaling
nt06462  Spinocerebellar ataxia
  Element
N00963  RELN-VLDLR-PI3K signaling pathway
N00964  DAB1-overexpression to RELN-VLDLR-PI3K signaling pathway
Disease
H00063  Spinocerebellar ataxia (SCA)
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09160 Human Diseases
  09164 Neurodegenerative disease
   05017 Spinocerebellar ataxia
    1600 (DAB1)
 09180 Brite Hierarchies
  09182 Protein families: genetic information processing
   04131 Membrane trafficking [BR:hsa04131]
    1600 (DAB1)
Membrane trafficking [BR:hsa04131]
 Endocytosis
  Clathrin-mediated endocytosis
   LDLR adaptor proteins
    1600 (DAB1)
SSDB
Motif
Pfam: PID
Other DBs
NCBI-GeneID: 1600
NCBI-ProteinID: NP_066566
OMIM: 603448
HGNC: 2661
Ensembl: ENSG00000173406
Vega: OTTHUMG00000008391
Pharos: O75553(Tbio)
UniProt: O75553
LinkDB
Position
1p32.2-p32.1
AA seq 555 aa
MSTETELQVAVKTSAKKDSRKKGQDRSEATLIKRFKGEGVRYKAKLIGIDEVSAARGDKL
CQDSMMKLKGVVAGARSKGEHKQKIFLTISFGGIKIFDEKTGALQHHHAVHEISYIAKDI
TDHRAFGYVCGKEGNHRFVAIKTAQAAEPVILDLRDLFQLIYELKQREELEKKAQKDKQC
EQAVYQTILEEDVEDPVYQYIVFEAGHEPIRDPETEENIYQVPTSQKKEGVYDVPKSQPV
SAVTQLELFGDMSTPPDITSPPTPATPGDAFIPSSSQTLPASADVFSSVPFGTAAVPSGY
VAMGAVLPSFWGQQPLVQQQMVMGAQPPVAQVMPGAQPIAWGQPGLFPATQQPWPTVAGQ
FPPAAFMPTQTVMPLPAAMFQGPLTPLATVPGTSDSTRSSPQTDKPRQKMGKETFKDFQM
AQPPPVPSRKPDQPSLTCTSEAFSSYFNKVGVAQDTDDCDDFDISQLNLTPVTSTTPSTN
SPPTPAPRQSSPSKSSASHASDPTTDDIFEEGFESPSKSEEQEAPDGSQASSNSDPFGEP
SGEPSGDNISPQAGS
NT seq 1668 nt   +upstreamnt  +downstreamnt
atgtcaactgagacagaacttcaagtagctgtgaaaaccagcgccaagaaagactccaga
aagaaaggtcaggatcgcagtgaagccactttgataaagaggtttaaaggtgaaggggtc
cggtacaaagccaaattgatcgggattgatgaagtttccgcagctcggggagacaagtta
tgtcaagattccatgatgaaactcaagggcgttgttgctggcgctcgttccaaaggagaa
cacaaacagaaaatctttttaaccatctcctttggaggaatcaaaatctttgatgagaag
acaggggcccttcagcatcatcatgctgttcatgaaatatcctacattgcaaaggacatt
acagatcaccgggcctttggatatgtttgtgggaaggaagggaatcacagatttgtggcc
ataaaaacagcccaggcggctgaacctgttattctggacttgagagatctctttcaactc
atttatgaattgaagcaaagagaagaattagaaaaaaaggcacaaaaggataagcagtgt
gaacaagctgtgtaccagacaatattggaagaggatgttgaagatcctgtgtaccagtac
attgtgtttgaggctggacacgagccaatccgtgatcccgaaacggaagaaaacatttat
caggttcccaccagccaaaagaaggaaggtgtttatgatgtgccaaaaagtcaacctgta
agtgctgtgacccaattagaactttttggggacatgtccacaccccctgatataacctct
ccccccactcctgcaactccaggtgatgcctttatcccatcttcatctcagacccttcca
gcgagtgcagatgtgtttagttctgtacctttcggcactgctgctgtaccctcaggttac
gttgcaatgggcgctgtcctcccgtccttctggggtcagcagcccctcgtccaacagcag
atggtcatgggtgcccagccaccagtcgctcaggtgatgccgggggctcagcccatcgca
tggggccagccgggtctctttcctgccactcagcagccctggccaactgtggccgggcag
tttccgccagccgccttcatgcccacacaaactgttatgcctttgccagctgccatgttc
caaggtcccctcaccccccttgccaccgtcccaggcacgagtgactccaccaggtcaagt
ccacagaccgacaagcccaggcagaaaatgggcaaagaaacgtttaaggatttccagatg
gcccagcctccgcccgtgccctcccgcaaacccgaccagccctccctcacctgtacctca
gaggccttctccagttacttcaacaaagtcggggtggcacaggatacagacgactgtgat
gactttgacatctcccagttgaatttgacccctgtgacttctaccacaccatcgaccaac
tcacctccaaccccagcccctagacagagctctccatccaaatcatctgcatcccatgcc
agtgatcctaccacagatgacatctttgaagagggctttgaaagtcccagcaaaagcgaa
gagcaagaagctcctgatggatcacaggcctcatccaacagtgatccatttggtgagccc
agtggggagcccagtggtgataatataagtccacaggccggtagctag

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