Homo sapiens (human): 342371
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Entry
342371 CDS
T01001
Symbol
ATXN1L, BOAT, BOAT1
Name
(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)
BRITE hierarchy
SSDB
Ortholog
Paralog
Gene cluster
GFIT
Motif
Pfam:
AXH
ATXN-1_C
Motif
Other DBs
NCBI-GeneID:
342371
NCBI-ProteinID:
NP_001131147
OMIM:
614301
HGNC:
33279
Ensembl:
ENSG00000224470
Pharos:
P0C7T5
(Tdark)
UniProt:
P0C7T5
LinkDB
All DBs
Position
16:71845976..71857328
Genome browser
AA seq
689 aa
AA seq
DB search
MKPVHERSQECLPPKKRDLPVTSEDMGRTTSCSTNHTPSSDASEWSRGVVVAGQSQAGAR
VSLGGDGAEAITGLTVDQYGMLYKVAVPPATFSPTGLPSVVNMSPLPPTFNVASSLIQHP
GIHYPPLHYAQLPSTSLQFIGSPYSLPYAVPPNFLPSPLLSPSANLATSHLPHFVPYASL
LAEGATPPPQAPSPAHSFNKAPSATSPSGQLPHHSSTQPLDLAPGRMPIYYQMSRLPAGY
TLHETPPAGASPVLTPQESQSALEAAAANGGQRPRERNLVRRESEALDSPNSKGEGQGLV
PVVECVVDGQLFSGSQTPRVEVAAPAHRGTPDTDLEVQRVVGALASQDYRVVAAQRKEEP
SPLNLSHHTPDHQGEGRGSARNPAELAEKSQARGFYPQSHQEPVKHRPLPKAMVVANGNL
VPTGTDSGLLPVGSEILVASSLDVQARATFPDKEPTPPPITSSHLPSHFMKGAIIQLATG
ELKRVEDLQTQDFVRSAEVSGGLKIDSSTVVDIQESQWPGFVMLHFVVGEQQSKVSIEVP
PEHPFFVYGQGWSSCSPGRTTQLFSLPCHRLQVGDVCISISLQSLNSNSVSQASCAPPSQ
LGPPRERPERTVLGSRELCDSEGKSQPAGEGSRVVEPSQPESGAQACWPAPSFQRYSMQG
EEARAALLRPSFIPQEVKLSIEGRSNAGK
NT seq
2070 nt
NT seq
+upstream
nt +downstream
nt
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
Homo sapiens (human): 6310
Help
Entry
6310 CDS
T01001
Symbol
ATXN1, ATX1, D6S504E, SCA1
Name
(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
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)
BRITE hierarchy
SSDB
Ortholog
Paralog
Gene cluster
GFIT
Motif
Pfam:
ATXN-1_C
AXH
DDHD
TERB2
PGC7_Stella
Cnd1_N
Motif
Other DBs
NCBI-GeneID:
6310
NCBI-ProteinID:
NP_000323
OMIM:
601556
HGNC:
10548
Ensembl:
ENSG00000124788
Pharos:
P54253
(Tbio)
UniProt:
P54253
Q96FF1
Structure
PDB
PDBj
LinkDB
All DBs
Position
6:complement(16299112..16761460)
Genome browser
AA seq
815 aa
AA seq
DB search
MKSNQERSNECLPPKKREIPATSRSSEEKAPTLPSDNHRVEGTAWLPGNPGGRGHGGGRH
GPAGTSVELGLQQGIGLHKALSTGLDYSPPSAPRSVPVATTLPAAYATPQPGTPVSPVQY
AHLPHTFQFIGSSQYSGTYASFIPSQLIPPTANPVTSAVASAAGATTPSQRSQLEAYSTL
LANMGSLSQTPGHKAEQQQQQQQQQQQQHQHQQQQQQQQQQQQQQHLSRAPGLITPGSPP
PAQQNQYVHISSSPQNTGRTASPPAIPVHLHPHQTMIPHTLTLGPPSQVVMQYADSGSHF
VPREATKKAESSRLQQAIQAKEVLNGEMEKSRRYGAPSSADLGLGKAGGKSVPHPYESRH
VVVHPSPSDYSSRDPSGVRASVMVLPNSNTPAADLEVQQATHREASPSTLNDKSGLHLGK
PGHRSYALSPHTVIQTTHSASEPLPVGLPATAFYAGTQPPVIGYLSGQQQAITYAGSLPQ
HLVIPGTQPLLIPVGSTDMEASGAAPAIVTSSPQFAAVPHTFVTTALPKSENFNPEALVT
QAAYPAMVQAQIHLPVVQSVASPAAAPPTLPPYFMKGSIIQLANGELKKVEDLKTEDFIQ
SAEISNDLKIDSSTVERIEDSHSPGVAVIQFAVGEHRAQVSVEVLVEYPFFVFGQGWSSC
CPERTSQLFDLPCSKLSVGDVCISLTLKNLKNGSVKKGQPVDPASVLLKHSKADGLAGSR
HRYAEQENGINQGSAQMLSENGELKFPEKMGLPAAPFLTKIEPSKPAATRKRRWSAPESR
KLEKSEDEPPLTLPKPSLIPQEVKICIEGRSNVGK
NT seq
2448 nt
NT seq
+upstream
nt +downstream
nt
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