KEGG   Homo sapiens (human): 25814
Entry
25814             CDS       T01001                                 
Symbol
ATXN10, ATX10, E46L, HUMEEP, SCA10
Name
(RefSeq) ataxin 10
  KO
K19323  ataxin-10
Organism
hsa  Homo sapiens (human)
Pathway
hsa05017  Spinocerebellar ataxia
Disease
H00063  Spinocerebellar ataxia (SCA)
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09160 Human Diseases
  09164 Neurodegenerative disease
   05017 Spinocerebellar ataxia
    25814 (ATXN10)
SSDB
Motif
Pfam: Atx10homo_assoc Cnd1
Other DBs
NCBI-GeneID: 25814
NCBI-ProteinID: NP_037368
OMIM: 611150
HGNC: 10549
Ensembl: ENSG00000130638
Pharos: Q9UBB4(Tbio)
UniProt: Q9UBB4
Position
22:45671834..45845307
AA seq 475 aa
MAAPRPPPARLSGVMVPAPIQDLEALRALTALFKEQRNRETAPRTIFQRVLDILKKSSHA
VELACRDPSQVENLASSLQLITECFRCLRNACIECSVNQNSIRNLDTIGVAVDLILLFRE
LRVEQESLLTAFRCGLQFLGNIASRNEDSQSIVWVHAFPELFLSCLNHPDKKIVAYSSMI
LFTSLNHERMKELEENLNIAIDVIDAYQKHPESEWPFLIITDLFLKSPELVQAMFPKLNN
QERVTLLDLMIAKITSDEPLTKDDIPVFLRHAELIASTFVDQCKTVLKLASEEPPDDEEA
LATIRLLDVLCEMTVNTELLGYLQVFPGLLERVIDLLRVIHVAGKETTNIFSNCGCVRAE
GDISNVANGFKSHLIRLIGNLCYKNKDNQDKVNELDGIPLILDNCNISDSNPFLTQWVIY
AIRNLTEDNSQNQDLIAKMEEQGLADASLLKKVGFEVEKKGEKLILKSTRDTPKP
NT seq 1428 nt   +upstreamnt  +downstreamnt
atggcggcgcccaggccgccgcctgccaggctgtcgggcgtcatggtgccggcgcccatc
caagacctggaggccctgcgcgcgctcacggcgctcttcaaagagcagcggaaccgagaa
acagcacccaggactatcttccaaagagttctggatatcctaaagaaatcttctcatgct
gttgagcttgcctgcagagatccatcccaagtggaaaacctggcttccagtctgcagtta
ataacagaatgcttcaggtgtcttcgcaatgcttgcatagagtgttctgtgaaccagaat
tcaatcaggaacttggatacgattggtgttgctgttgatttgattcttctgtttcgtgaa
ctgcgagtggaacaggaatctctgttgacagcttttcgctgtggcctgcagtttttaggc
aacattgcctcacggaatgaagattcccagtctattgtttgggtgcatgctttcccagaa
ctgtttttgtcttgcttaaatcatccggacaaaaaaattgttgcctactcttcaatgatt
ttgtttacatcccttaatcatgaaagaatgaaagaactggaggagaacctcaatattgca
attgatgtcatagatgcttaccaaaaacatcctgaatcagaatggccgttcttgattatt
acagacctctttctgaaaagcccggaattggtacaagccatgtttcccaaactgaacaat
caagaaagagttacactgttagaccttatgatagccaagataacgagtgatgagccactc
accaaggatgacatccctgtgtttttgcggcatgctgagttgattgcaagcacctttgtg
gatcagtgcaagactgtgctcaagctggcctctgaggagcctcctgatgatgaggaggca
ctggctacaattaggcttctcgacgtcctgtgcgaaatgactgtgaatactgagctgctc
ggctatctgcaggttttccctggcttgctggaaagagtgattgatcttttgcgggtgatt
catgtagctggaaaagaaaccacaaacatcttcagtaattgtggttgcgtgagagcagaa
ggtgacatctccaatgtggccaatgggtttaagtctcatctcattcgtctgattggaaat
ctgtgttacaagaataaagataaccaagacaaggtaaatgagctggatggtatcccgttg
atcctggacaactgcaacatcagtgacagtaacccctttctgacccagtgggtgatatat
gccatccgaaaccttaccgaagacaacagccaaaaccaagatttgattgcaaagatggag
gaacaggggctggcagatgcatccctacttaaaaaagtgggttttgaagttgaaaagaaa
ggcgaaaagctgatcctgaaatctactagagacacccctaagccatga

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