KEGG   Homo sapiens (human): 342371
Entry
342371            CDS       T01001                                 
Symbol
ATXN1L, BOAT, BOAT1
Name
(RefSeq) ataxin 1 like
  KO
K23616  ataxin-1
Organism
hsa  Homo sapiens (human)
Pathway
hsa04330  Notch signaling pathway
hsa05017  Spinocerebellar ataxia
hsa05022  Pathways of neurodegeneration - multiple diseases
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09130 Environmental Information Processing
  09132 Signal transduction
   04330 Notch signaling pathway
    342371 (ATXN1L)
 09160 Human Diseases
  09164 Neurodegenerative disease
   05017 Spinocerebellar ataxia
    342371 (ATXN1L)
   05022 Pathways of neurodegeneration - multiple diseases
    342371 (ATXN1L)
SSDB
Motif
Pfam: AXH ATXN-1_C
Other DBs
NCBI-GeneID: 342371
NCBI-ProteinID: NP_001131147
OMIM: 614301
HGNC: 33279
Ensembl: ENSG00000224470
UniProt: P0C7T5
LinkDB
Position
16:71845976..71857328
AA seq 689 aa
MKPVHERSQECLPPKKRDLPVTSEDMGRTTSCSTNHTPSSDASEWSRGVVVAGQSQAGAR
VSLGGDGAEAITGLTVDQYGMLYKVAVPPATFSPTGLPSVVNMSPLPPTFNVASSLIQHP
GIHYPPLHYAQLPSTSLQFIGSPYSLPYAVPPNFLPSPLLSPSANLATSHLPHFVPYASL
LAEGATPPPQAPSPAHSFNKAPSATSPSGQLPHHSSTQPLDLAPGRMPIYYQMSRLPAGY
TLHETPPAGASPVLTPQESQSALEAAAANGGQRPRERNLVRRESEALDSPNSKGEGQGLV
PVVECVVDGQLFSGSQTPRVEVAAPAHRGTPDTDLEVQRVVGALASQDYRVVAAQRKEEP
SPLNLSHHTPDHQGEGRGSARNPAELAEKSQARGFYPQSHQEPVKHRPLPKAMVVANGNL
VPTGTDSGLLPVGSEILVASSLDVQARATFPDKEPTPPPITSSHLPSHFMKGAIIQLATG
ELKRVEDLQTQDFVRSAEVSGGLKIDSSTVVDIQESQWPGFVMLHFVVGEQQSKVSIEVP
PEHPFFVYGQGWSSCSPGRTTQLFSLPCHRLQVGDVCISISLQSLNSNSVSQASCAPPSQ
LGPPRERPERTVLGSRELCDSEGKSQPAGEGSRVVEPSQPESGAQACWPAPSFQRYSMQG
EEARAALLRPSFIPQEVKLSIEGRSNAGK
NT seq 2070 nt   +upstreamnt  +downstreamnt
atgaaacctgttcatgaaaggagtcaggaatgccttccaccaaagaaacgagacctcccc
gtgaccagcgaggatatggggagaactaccagctgctccactaaccacacaccctccagt
gatgcttctgaatggtcccgaggggttgtggtggctgggcagagccaggcaggagccaga
gtcagcctggggggtgatggagctgaggccatcaccggtctgacagtggaccagtatggc
atgctgtataaggtggctgtgccgcctgccaccttttcaccaactggactcccatctgtg
gtgaatatgagtcccttgcccccaacgtttaatgtagcgtcttcactaattcaacatcca
ggcatccactatcctccactccactatgctcagctcccatccacctcgctgcagttcatt
gggtctccttatagccttccctatgctgtgccacctaatttcctaccgagtcccctccta
tctccttctgccaaccttgccacctctcaccttccacactttgtgccatatgcctcactt
ctggctgaaggagccactcctcccccacaggctccctccccggcccactcatttaacaaa
gctccctctgccacctccccatctgggcaattgccacatcattcaagtactcagccgctg
gaccttgctccaggtcggatgcccatttattatcagatgtccaggctacctgctgggtat
actttgcatgaaacccctccagcaggtgccagcccagttcttacccctcaggagagccag
tctgctctggaagcagctgctgcaaatggaggacagagaccacgagagcgaaatttagta
agacgggaaagtgaagcccttgactcccccaacagcaagggtgaaggccagggactggtg
ccagtggtagaatgtgtggtggatggacagttgttttcaggttctcagactccacgggta
gaggtagcagcaccagcacaccgggggaccccggacactgaccttgaggtccagcgggtg
gttggcgctttagcttctcaggactatcgtgtggtggcagctcagaggaaggaggaaccc
agccccctcaacctatcccatcatacccccgaccatcagggtgaggggcgagggtcagcc
aggaaccctgcagagctggcagagaaaagtcaggcccgtgggttctaccctcagtcccat
caggaaccagtaaaacatagacctttacccaaagcaatggttgtagccaatggcaacctg
gtgcccactggaactgactcaggcctgctgcctgtgggctcggagatcctggtagcatca
agtctggacgtgcaggccagagccaccttcccagacaaggagccaacgccgccccccatt
acctcctctcacttgccttcccatttcatgaaaggcgccatcatccagctggctacggga
gagctgaagcgggtggaggacctccagacccaggattttgtgcgcagtgccgaagtgagc
ggggggctgaagattgactctagcacggtcgtggacattcaggagagccaatggcctgga
tttgtcatgctgcattttgtggttggtgagcagcagagcaaagtgagcatcgaagtgccc
cccgagcaccccttctttgtatatggccagggttggtcctcttgcagccctgggcggacg
acacaactcttctctctgccctgccatcggctacaggtgggagatgtctgcatctctatc
agtttacagagcttgaacagtaactcagtttctcaggccagctgtgctcccccaagccag
ctgggtcccccccgagaaaggcctgagaggacggtcttgggatccagagagctatgtgac
agtgaggggaagagccagccggcaggagagggctcccgtgtggtagagccttcccagcct
gagtccggtgctcaggcctgctggccagccccgagcttccaaagatacagcatgcaaggg
gaggaggcacgggctgcgctgctccgtccctctttcattccacaggaggtaaagctgtcc
attgaagggcgttccaatgcgggaaaatga

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