KEGG   Homo sapiens (human): 342371
Entry
342371            CDS       T01001                                 

Gene name
ATXN1L, BOAT, BOAT1
Definition
(RefSeq) ataxin 1 like
  KO
K23616  ataxin 1/1L
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
Other DBs
NCBI-GeneID: 342371
NCBI-ProteinID: NP_001131147
OMIM: 614301
HGNC: 33279
Ensembl: ENSG00000224470
Vega: OTTHUMG00000176872
Pharos: P0C7T5(Tdark)
UniProt: P0C7T5
LinkDB
Position
16q22.2
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

KEGG   Homo sapiens (human): 6310
Entry
6310              CDS       T01001                                 

Gene name
ATXN1, ATX1, D6S504E, SCA1
Definition
(RefSeq) ataxin 1
  KO
K23616  ataxin 1/1L
Organism
hsa  Homo sapiens (human)
Pathway
hsa04330  Notch signaling pathway
hsa05017  Spinocerebellar ataxia
hsa05022  Pathways of neurodegeneration - multiple diseases
Network
nt06440  Transcription
nt06462  Spinocerebellar ataxia
  Element
N00966  Mutation-caused aberrant ATXN1 to RORA-mediated transcription
Disease
H00063  Spinocerebellar ataxia (SCA)
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09130 Environmental Information Processing
  09132 Signal transduction
   04330 Notch signaling pathway
    6310 (ATXN1)
 09160 Human Diseases
  09164 Neurodegenerative disease
   05017 Spinocerebellar ataxia
    6310 (ATXN1)
   05022 Pathways of neurodegeneration - multiple diseases
    6310 (ATXN1)
SSDB
Motif
Pfam: AXH ATXN-1_C Spt20 TERB2 CFIA_Pcf11 Cnd1_N PGC7_Stella Presenilin Snu56_snRNP
Other DBs
NCBI-GeneID: 6310
NCBI-ProteinID: NP_000323
OMIM: 601556
HGNC: 10548
Ensembl: ENSG00000124788
Vega: OTTHUMG00000014303
Pharos: P54253(Tbio)
UniProt: P54253 Q96FF1
LinkDB
Structure
PDB: 

Position
6p22.3
AA seq 815 aa
MKSNQERSNECLPPKKREIPATSRSSEEKAPTLPSDNHRVEGTAWLPGNPGGRGHGGGRH
GPAGTSVELGLQQGIGLHKALSTGLDYSPPSAPRSVPVATTLPAAYATPQPGTPVSPVQY
AHLPHTFQFIGSSQYSGTYASFIPSQLIPPTANPVTSAVASAAGATTPSQRSQLEAYSTL
LANMGSLSQTPGHKAEQQQQQQQQQQQQHQHQQQQQQQQQQQQQQHLSRAPGLITPGSPP
PAQQNQYVHISSSPQNTGRTASPPAIPVHLHPHQTMIPHTLTLGPPSQVVMQYADSGSHF
VPREATKKAESSRLQQAIQAKEVLNGEMEKSRRYGAPSSADLGLGKAGGKSVPHPYESRH
VVVHPSPSDYSSRDPSGVRASVMVLPNSNTPAADLEVQQATHREASPSTLNDKSGLHLGK
PGHRSYALSPHTVIQTTHSASEPLPVGLPATAFYAGTQPPVIGYLSGQQQAITYAGSLPQ
HLVIPGTQPLLIPVGSTDMEASGAAPAIVTSSPQFAAVPHTFVTTALPKSENFNPEALVT
QAAYPAMVQAQIHLPVVQSVASPAAAPPTLPPYFMKGSIIQLANGELKKVEDLKTEDFIQ
SAEISNDLKIDSSTVERIEDSHSPGVAVIQFAVGEHRAQVSVEVLVEYPFFVFGQGWSSC
CPERTSQLFDLPCSKLSVGDVCISLTLKNLKNGSVKKGQPVDPASVLLKHSKADGLAGSR
HRYAEQENGINQGSAQMLSENGELKFPEKMGLPAAPFLTKIEPSKPAATRKRRWSAPESR
KLEKSEDEPPLTLPKPSLIPQEVKICIEGRSNVGK
NT seq 2448 nt   +upstreamnt  +downstreamnt
atgaaatccaaccaagagcggagcaacgaatgcctgcctcccaagaagcgcgagatcccc
gccaccagccggtcctccgaggagaaggcccctaccctgcccagcgacaaccaccgggtg
gagggcacagcatggctcccgggcaaccctggtggccggggccacgggggcgggaggcat
gggccggcagggacctcggtggagcttggtttacaacagggaataggtttacacaaagca
ttgtccacagggctggactactccccgcccagcgctcccaggtctgtccccgtggccacc
acgctgcctgccgcgtacgccaccccgcagccagggaccccggtgtcccccgtgcagtac
gctcacctgccgcacaccttccagttcattgggtcctcccaatacagtggaacctatgcc
agcttcatcccatcacagctgatccccccaaccgccaaccccgtcaccagtgcagtggcc
tcggccgcaggggccaccactccatcccagcgctcccagctggaggcctattccactctg
ctggccaacatgggcagtctgagccagacgccgggacacaaggctgagcagcagcagcag
cagcagcagcagcagcagcagcagcatcagcatcagcagcagcagcagcagcagcagcag
cagcagcagcagcagcacctcagcagggctccggggctcatcaccccggggtccccccca
ccagcccagcagaaccagtacgtccacatttccagttctccgcagaacaccggccgcacc
gcctctcctccggccatccccgtccacctccacccccaccagacgatgatcccacacacg
ctcaccctggggcccccctcccaggtcgtcatgcaatacgccgactccggcagccacttt
gtccctcgggaggccaccaagaaagctgagagcagccggctgcagcaggccatccaggcc
aaggaggtcctgaacggtgagatggagaagagccggcggtacggggccccgtcctcagcc
gacctgggcctgggcaaggcaggcggcaagtcggttcctcacccgtacgagtccaggcac
gtggtggtccacccgagcccctcagactacagcagtcgtgatccttcgggggtccgggcc
tctgtgatggtcctgcccaacagcaacacgcccgcagctgacctggaggtgcaacaggcc
actcatcgtgaagcctccccttctaccctcaacgacaaaagtggcctgcatttagggaag
cctggccaccggtcctacgcgctctcaccccacacggtcattcagaccacacacagtgct
tcagagccactcccggtgggactgccagccacggccttctacgcagggactcaaccccct
gtcatcggctacctgagcggccagcagcaagcaatcacctacgccggcagcctgccccag
cacctggtgatccccggcacacagcccctgctcatcccggtcggcagcactgacatggaa
gcgtcgggggcagccccggccatagtcacgtcatccccccagtttgctgcagtgcctcac
acgttcgtcaccaccgcccttcccaagagcgagaacttcaaccctgaggccctggtcacc
caggccgcctacccagccatggtgcaggcccagatccacctgcctgtggtgcagtccgtg
gcctccccggcggcggctccccctacgctgcctccctacttcatgaaaggctccatcatc
cagttggccaacggggagctaaagaaggtggaagacttaaaaacagaagatttcatccag
agtgcagagataagcaacgacctgaagatcgactccagcaccgtagagaggattgaagac
agccatagcccgggcgtggccgtgatacagttcgccgtcggggagcaccgagcccaggtc
agcgttgaagttttggtagagtatcctttttttgtgtttggacagggctggtcatcctgc
tgtccggagagaaccagccagctctttgatttgccgtgttccaaactctcagttggggat
gtctgcatctcgcttaccctcaagaacctgaagaacggctctgttaaaaagggccagccc
gtggatcccgccagcgtcctgctgaagcactcaaaggccgacggcctggcgggcagcaga
cacaggtatgccgagcaggaaaacggaatcaaccaggggagtgcccagatgctctctgag
aatggcgaactgaagtttccagagaaaatgggattgcctgcagcgcccttcctcaccaaa
atagaacccagcaagcccgcggcaacgaggaagaggaggtggtcggcgccagagagccgc
aaactggagaagtcagaagacgaaccacctttgactcttcctaagccttctctaattcct
caggaggttaagatttgcattgaaggccggtctaatgtaggcaagtag

DBGET integrated database retrieval system