KEGG   Homo sapiens (human): 11273
Entry
11273             CDS       T01001                                 
Symbol
ATXN2L, A2D, A2LG, A2LP, A2RP
Name
(RefSeq) ataxin-2-like protein isoform 1
  KO
K23625  ataxin-2
Organism
hsa  Homo sapiens (human)
Pathway
hsa05014  Amyotrophic lateral sclerosis
hsa05017  Spinocerebellar ataxia
hsa05022  Pathways of neurodegeneration - multiple diseases
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09160 Human Diseases
  09164 Neurodegenerative disease
   05014 Amyotrophic lateral sclerosis
    11273 (ATXN2L)
   05017 Spinocerebellar ataxia
    11273 (ATXN2L)
   05022 Pathways of neurodegeneration - multiple diseases
    11273 (ATXN2L)
 09180 Brite Hierarchies
  09182 Protein families: genetic information processing
   03019 Messenger RNA biogenesis [BR:hsa03019]
    11273 (ATXN2L)
Messenger RNA biogenesis [BR:hsa03019]
 Eukaryotic type
  mRNA surveillance and transport factors
   mRNA cycle factors
    Common to processing body (P body) and stress granule
     11273 (ATXN2L)
SSDB
Motif
Pfam: SM-ATX LsmAD PAM2 DUF5415
Other DBs
NCBI-GeneID: 11273
NCBI-ProteinID: NP_009176
OMIM: 607931
HGNC: 31326
Ensembl: ENSP00000338718.4
UniProt: Q8WWM7
Position
16:28822999..28837232
AA seq 1075 aa
MLKPQPLQQPSQPQQPPPTQQAVARRPPGGTSPPNGGLPGPLATSAAPPGPPAAASPCLG
PVAAAGSGLRRGAEGILAPQPPPPQQHQERPGAAAIGSARGQSTGKGPPQSPVFEGVYNN
SRMLHFLTAVVGSTCDVKVKNGTTYEGIFKTLSSKFELAVDAVHRKASEPAGGPRREDIV
DTMVFKPSDVMLVHFRNVDFNYATKDKFTDSAIAMNSKVNGEHKEKVLQRWEGGDSNSDD
YDLESDMSNGWDPNEMFKFNEENYGVKTTYDSSLSSYTVPLEKDNSEEFRQRELRAAQLA
REIESSPQYRLRIAMENDDGRTEEEKHSAVQRQGSGRESPSLASREGKYIPLPQRVREGP
RGGVRCSSSRGGRPGLSSLPPRGPHHLDNSSPGPGSEARGINGGPSRMSPKAQRPLRGAK
TLSSPSNRPSGETSVPPPPAVGRMYPPRSPKSAAPAPISASCPEPPIGSAVPTSSASIPV
TSSVSDPGVGSISPASPKISLAPTDVKELSTKEPGRTLEPQELARIAGKVPGLQNEQKRF
QLEELRKFGAQFKLQPSSSPENSLDPFPPRILKEEPKGKEKEVDGLLTSEPMGSPVSSKT
ESVSDKEDKPPLAPSGGTEGPEQPPPPCPSQTGSPPVGLIKGEDKDEGPVAEQVKKSTLN
PNAKEFNPTKPLLSVNKSTSTPTSPGPRTHSTPSIPVLTAGQSGLYSPQYISYIPQIHMG
PAVQAPQMYPYPVSNSVPGQQGKYRGAKGSLPPQRSDQHQPASAPPMMQAAAAAGPPLVA
ATPYSSYIPYNPQQFPGQPAMMQPMAHYPSQPVFAPMLQSNPRMLTSGSHPQAIVSSSTP
QYPSAEQPTPQALYATVHQSYPHHATQLHAHQPQPATTPTGSQPQSQHAAPSPVQHQAGQ
APHLGSGQPQQNLYHPGALTGTPPSLPPGPSAQSPQSSFPQPAAVYAIHHQQLPHGFTNM
AHVTQAHVQTGITAAPPPHPGAPHPPQVMLLHPPQSHGGPPQGAVPQSGVPALSASTPSP
YPYIGHPQGEQPGQAPGFPGGADDRIREFSLAGGIWHGRAEGLQVGQDARVLGGE
NT seq 3228 nt   +upstreamnt  +downstreamnt
atgttgaagcctcagccgctacaacagccctcccagccccagcagccgccccccacgcaa
caggccgtggcccgtcggccccccgggggcaccagccctcccaacggcggcctcccgggg
ccgctggccacctctgcggctcctcccgggcctccagcggccgcctccccctgcctgggg
cctgtggccgctgccgggagcgggctccgccggggagccgaaggcatcttggcgccgcag
ccgccgccgccgcagcaacaccaggagaggccgggggcagccgccatcggcagcgccagg
ggacagagcacaggaaagggacccccacagtcacctgtgtttgaaggcgtctacaacaat
tccagaatgctgcatttccttacagctgttgtgggctccacttgtgatgtaaaggtgaaa
aatggtaccacttatgagggtatcttcaagacgctaagctcaaagtttgaactagccgtg
gatgctgtgcaccggaaagcatctgagccagcaggtggccctcgtcgggaggacattgtg
gacaccatggtgtttaagccaagtgatgtcatgcttgttcacttccgaaatgttgacttc
aactatgctactaaagacaagttcaccgattcagccattgccatgaactcgaaagtgaat
ggggaacacaaagagaaggtgcttcagcgctgggaggggggtgacagcaacagcgacgac
tatgacctcgagtctgacatgtccaatggatgggaccccaatgaaatgttcaagttcaat
gaggagaactacggtgtgaagactacctatgatagcagtctttcttcttatacggtgccc
ttagaaaaggacaactcagaagagtttcgtcagcgagagctgcgtgcggcccagttggct
cgagagattgaatcaagcccccagtaccgcctacggatcgccatggagaacgacgatggg
cgcactgaagaggagaagcacagtgcagtccagcggcagggctcagggcgggagagcccc
agcttggcatccagggaggggaagtatatccctctgcctcaacgagtccgggaaggtccc
cggggaggagttcgatgcagcagctctcggggcggtcggcctggccttagctctttgcca
cctcgtggccctcaccatctggacaacagcagccctggcccaggttctgaggcccgtggt
atcaatggaggcccttcccgcatgtccccaaaggcacaacggcctctgagaggtgccaag
actctgtcttcgcccagtaataggccttctggagaaacttctgttccacctcctcctgca
gtgggccggatgtatcccccgcgttctcccaagtctgctgcccctgccccaatctcagct
tcctgtccagagcctcccatcggctcggcagtgccaacctcttcagcctccatccctgtg
acctcatcagtctcagatcctggagtgggctccatttctccagcttctccaaagatctcc
ctggcccccacagatgtaaaagaactctctaccaaggaacctgggagaactctggagccc
caggagctggctcggatagctgggaaagtccctggtcttcagaatgaacagaaacgattc
caactggaagaactgagaaagtttggggcccagtttaagcttcagcccagtagctcccct
gagaacagcctggatccttttcctccccggatcttaaaggaggagcccaaaggaaaggag
aaagaggttgatggtctgttgacttcagagcccatggggtctcccgtctcctccaagaca
gagtccgtatcggataaggaggacaaaccacccctggcaccatcaggaggcactgagggg
ccagagcagcccccaccaccttgtccaagccaaactggcagccccccggtgggcctcatc
aagggagaagacaaagatgagggccctgttgctgaacaagtaaagaaatcaacgttgaac
cctaatgctaaggagttcaatcctacaaagcctctgctgtctgtgaataaatccaccagt
accccaacttctccggggccccggactcattcaactccctccatcccggtgctgacagca
ggccagagtgggctatacagcccccagtacatctcctacatacctcagatccacatggga
ccagctgtgcaggcacctcagatgtatccatatcctgtatccaattcagtgcctgggcag
cagggcaagtaccggggagcaaaaggctcccttcctccgcagcgctcggaccaacaccag
ccagcctcagccccgccgatgatgcaggccgccgcggctgctggcccgcctctggtggct
gccacgccctattcttcctacatcccctacaaccctcagcagttcccaggccagccagcc
atgatgcagcccatggcccactacccctcacagccggtgtttgcccccatgcttcagagc
aacccacgcatgctgacgtcgggcagccatccccaggccatcgtgtcatcctctacccct
cagtacccttctgcagagcagcctaccccccaagccctttatgccactgttcaccagtcc
tacccacaccatgccacacagctccatgcccaccagccgcagccggctaccacgcctact
ggaagccagccgcagtcccagcatgcggcccccagtcctgtccagcatcaggcggggcag
gccccacacttgggcagtggacagccacagcagaatctgtaccacccaggggccctgaca
ggcacgccgccctctctgccaccgggaccttctgcccagtcccctcagagcagcttcccc
cagccagccgctgtgtatgccatccaccaccagcagctgccccacggcttcaccaacatg
gcccatgttacccaggcccatgtccaaactggaatcacagcagccccgccccctcaccct
ggggctccccacccgccccaggtgatgctgctgcacccaccccagagtcatggggggccc
ccccaaggcgcggtgccccagagtggggtgcctgcactctcagcttccacaccctcaccc
tacccctacatcggacacccccaaggtgagcagcctggccaggcgcctggatttccagga
ggagccgatgacaggattcgtgagttctcattagctgggggaatttggcatggaagagct
gaggggctgcaggtggggcaggatgcacgggttctgggtggggagtga

  All links  
Disease (1)   
   OMIM (1)   
Gene (41)   
   RefGene (32)   
   NCBI-PROTEINID (1)   
   NCBI-Gene (1)   
   HGNC (1)   
   Ensembl (1)   
   RIKEN BRC-DNA (4)   
   OC (1)   
Protein sequence (110)   
   UniProt (1)   
   SWISS-PROT (1)   
   RefSeq(pep) (108)   
DNA sequence (150)   
   RefSeq(nuc) (108)   
   GenBank (21)   
   EMBL (21)   
Protein domain (4)   
   Pfam (4)   
All databases (306)   

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