KEGG   Homo sapiens (human): 6314
Entry
6314              CDS       T01001                                 

Gene name
ATXN7, ADCAII, OPCA3, SCA7, SGF73
Definition
(RefSeq) ataxin 7
  KO
K11318  ataxin-7
Organism
hsa  Homo sapiens (human)
Disease
H00063  Spinocerebellar ataxia (SCA)
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09180 Brite Hierarchies
  09182 Protein families: genetic information processing
   03021 Transcription machinery [BR:hsa03021]
    6314 (ATXN7)
   03036 Chromosome and associated proteins [BR:hsa03036]
    6314 (ATXN7)
Transcription machinery [BR:hsa03021]
 Eukaryotic type
  RNA polymerase II system
   Coactivators
    SAGA/TFTC/STAGA complex
     6314 (ATXN7)
Chromosome and associated proteins [BR:hsa03036]
 Eukaryotic type
  Histone modification proteins
   HAT complexes
    TFTC complex
     6314 (ATXN7)
SSDB
Motif
Pfam: SCA7 OrsD APOBEC1
Other DBs
NCBI-GeneID: 6314
NCBI-ProteinID: NP_000324
OMIM: 607640
HGNC: 10560
Ensembl: ENSG00000163635
Vega: OTTHUMG00000158763
Pharos: O15265(Tbio)
UniProt: O15265 Q9UPD8
Structure
PDB: 
2KKR

Position
3p14.1
AA seq 892 aa
MSERAADDVRGEPRRAAAAAGGAAAAAARQQQQQQQQQQPPPPQPQRQQHPPPPPRRTRP
EDGGPGAASTSAAAMATVGERRPLPSPEVMLGQSWNLWVEASKLPGKDGTELDESFKEFG
KNREVMGLCREDMPIFGFCPAHDDFYLVVCNDCNQVVKPQAFQSHYERRHSSSSKPPLAV
PPTSVFSFFPSLSKSKGGSASGSNRSSSGGVLSASSSSSKLLKSPKEKLQLRGNTRPMHP
IQQSRVPHGRIMTPSVKVEKIHPKMDGTLLKSAVGPTCPATVSSLVKPGLNCPSIPKPTL
PSPGQILNGKGLPAPPTLEKKPEDNSNNRKFLNKRLSEREFDPDIHCGVIDLDTKKPCTR
SLTCKTHSLTQRRAVQGRRKRFDVLLAEHKNKTREKELIRHPDSQQPPQPLRDPHPAPPR
TSQEPHQNPHGVIPSESKPFVASKPKPHTPSLPRPPGCPAQQGGSAPIDPPPVHESPHPP
LPATEPASRLSSEEGEGDDKEESVEKLDCHYSGHHPQPASFCTFGSRQIGRGYYVFDSRW
NRLRCALNLMVEKHLNAQLWKKIPPVPSTTSPISTRIPHRTNSVPTSQCGVSYLAAATVS
TSPVLLSSTCISPNSKSVPAHGTTLNAQPAASGAMDPVCSMQSRQVSSSSSSPSTPSGLS
SVPSSPMSRKPQKLKSSKSLRPKESSGNSTNCQNASSSTSGGSGKKRKNSSPLLVHSSSS
SSSSSSSSHSMESFRKNCVAHSGPPYPSTVTSSHSIGLNCVTNKANAVNVRHDQSGRGPP
TGSPAESIKRMSVMVNSSDSTLSLGPFIHQSNELPVNSHGSFSHSHTPLDKLIGKKRKCS
PSSSSINNSSSKPTKVAKVPAVNNVHMKHTGTIPGAQGLMNSSLLHQPKARP
NT seq 2679 nt   +upstreamnt  +downstreamnt
atgtcggagcgggccgcggatgacgtcaggggggagccgcgccgcgcggcggcggcggcg
ggcggagcagcggccgcggccgcccggcagcagcagcagcagcagcagcagcagcagccg
ccgcctccgcagccccagcggcagcagcacccgccaccgccgccacggcgcacacggccg
gaggacggcgggcccggcgccgcctccacctcggccgccgcaatggcgacggtcggggag
cgcaggcctctgcccagtcctgaagtgatgctgggacagtcgtggaatctgtgggttgag
gcttccaaacttcctgggaaggacgggacagaattggacgaaagtttcaaggagtttggg
aaaaaccgcgaagtcatggggctctgtcgggaagacatgccaatatttggtttctgtcca
gcccatgatgatttctacttggtggtgtgtaacgactgtaatcaggttgtcaaaccgcag
gcatttcaatcacattatgaaagaagacatagctcatccagcaagccgcctttggccgtt
cctcccacttcagtattttccttcttcccttctctgtccaaaagcaaaggaggcagtgca
agtggaagcaaccgttcttccagtggaggtgttcttagcgcatcctcatcaagttccaag
ttgttgaaatcacccaaagagaaactgcagctcagggggaacaccaggccaatgcatccc
attcagcaaagtagagttccccatggtagaatcatgacaccctctgtgaaagtggaaaag
attcatccgaaaatggatggcacactactgaaatctgcggtggggccaacctgtcctgct
actgtgagttccttagtcaagcctggccttaactgcccctcaataccaaagccaaccttg
ccttcacctggacagattctgaatggcaaagggcttcctgcaccgcccactctggaaaag
aaacctgaagacaattccaataataggaaatttttaaataagagattatcagaaagagag
tttgatcctgacatccactgtggggttattgatctcgacaccaagaagccctgcacccgg
tctttgacatgcaagacacattccttaacccagcgcagggctgtccagggtagaagaaaa
cgatttgatgtgttattagccgagcacaaaaacaaaaccagggaaaaggaattgattcgc
catccggactctcagcaaccaccgcagcctctcagggacccgcatcccgcccctcctaga
acgtcacaggagccgcaccaaaaccctcacggagtgattccttccgaatcaaagcctttt
gtagctagtaaacctaaacctcacacccccagtcttccaaggcctccaggctgccctgct
cagcaaggtgggagtgcccccattgaccctcctccagtccatgaatctccacaccctccc
ctgcctgccactgagccagcttctcggttatccagtgaggagggcgaaggcgatgacaaa
gaagagtctgttgaaaaactggactgtcattattcaggtcatcatcctcagccagcatct
ttttgcacatttgggagccggcagataggaagaggctattacgtgtttgactccaggtgg
aatcgacttcgctgcgccctcaacctcatggtggagaagcatctgaatgcacagctatgg
aagaaaatcccaccagtgcccagtaccacctcacccatctccacacgtattcctcaccgg
acaaactctgtgccgacatcacaatgtggagtcagctatctggcagcagccaccgtctct
acatccccagtcctgctctcatctacctgcatctccccaaatagcaaatcggtaccagct
catggaaccacactaaatgcacagcctgctgcttcaggggcgatggatcctgtgtgcagt
atgcaatccagacaagtgtcctcttcatcctcatccccttccacgccctctggcctttcc
tcggttccttcctcccccatgtccaggaaacctcagaaattgaaatccagcaaatctttg
aggcccaaggagtcttctggtaacagcactaactgtcaaaatgccagtagcagtaccagt
ggcggctcaggaaagaaacgcaaaaacagttccccactgttggttcactcttcctcctcc
tcttcctcctcctcctcttcttctcattccatggagtcttttaggaaaaactgtgtggct
cactctgggcctccctacccctcaacggtaacatcttcccatagcatcggcctcaactgt
gtgacgaataaagcaaatgcggtgaacgtccggcatgaccagtcagggaggggccccccc
accgggagccctgctgaatccatcaagaggatgagtgtgatggtgaacagcagtgattct
actctttctcttgggccattcattcaccagtccaatgaactgcctgtcaactcccacggc
agtttttcccactcacacactcctctagacaaactcataggaaagaaaagaaagtgctca
cccagctcgagcagcatcaacaacagcagcagcaaacccacaaaggttgccaaagtgcca
gccgtgaacaatgtccacatgaaacacacaggcaccatcccaggggcacaaggactgatg
aacagttccctccttcatcagccaaaggcacgtccctga

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