KEGG   Homo sapiens (human): 9698
Entry
9698              CDS       T01001                                 
Symbol
PUM1, HSPUM, NEDMSF, PUMH, PUMH1, PUML1, SCA47
Name
(RefSeq) pumilio RNA binding family member 1
  KO
K17943  pumilio RNA-binding family
Organism
hsa  Homo sapiens (human)
Pathway
hsa05017  Spinocerebellar ataxia
Disease
H00063  Spinocerebellar ataxia (SCA)
H02397  Neurodevelopmental disorder with movement abnormalities or hypotonia
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09160 Human Diseases
  09164 Neurodegenerative disease
   05017 Spinocerebellar ataxia
    9698 (PUM1)
SSDB
Motif
Pfam: PUF PUF_NOP9 DUF6922 SAWADEE CFAP61_N
Other DBs
NCBI-GeneID: 9698
NCBI-ProteinID: NP_055491
OMIM: 607204
HGNC: 14957
Ensembl: ENSG00000134644
UniProt: Q14671
Structure
Position
1:complement(30931506..31065717)
AA seq 1186 aa
MSVACVLKRKAVLWQDSFSPHLKHHPQEPANPNMPVVLTSGTGSQAQPQPAANQALAAGT
HSSPVPGSIGVAGRSQDDAMVDYFFQRQHGEQLGGGGSGGGGYNNSKHRWPTGDNIHAEH
QVRSMDELNHDFQALALEGRAMGEQLLPGKKFWETDESSKDGPKGIFLGDQWRDSAWGTS
DHSVSQPIMVQRRPGQSFHVNSEVNSVLSPRSESGGLGVSMVEYVLSSSPGDSCLRKGGF
GPRDADSDENDKGEKKNKGTFDGDKLGDLKEEGDVMDKTNGLPVQNGIDADVKDFSRTPG
NCQNSANEVDLLGPNQNGSEGLAQLTSTNGAKPVEDFSNMESQSVPLDPMEHVGMEPLQF
DYSGTQVPVDSAAATVGLFDYNSQQQLFQRPNALAVQQLTAAQQQQYALAAAHQPHIGLA
PAAFVPNPYIISAAPPGTDPYTAGLAAAATLGPAVVPHQYYGVTPWGVYPASLFQQQAAA
AAAATNSANQQTTPQAQQGQQQVLRGGASQRPLTPNQNQQGQQTDPLVAAAAVNSALAFG
QGLAAGMPGYPVLAPAAYYDQTGALVVNAGARNGLGAPVRLVAPAPVIISSSAAQAAVAA
AAASANGAAGGLAGTTNGPFRPLGTQQPQPQPQQQPNNNLASSSFYGNNSLNSNSQSSSL
FSQGSAQPANTSLGFGSSSSLGATLGSALGGFGTAVANSNTGSGSRRDSLTGSSDLYKRT
SSSLTPIGHSFYNGLSFSSSPGPVGMPLPSQGPGHSQTPPPSLSSHGSSSSLNLGGLTNG
SGRYISAAPGAEAKYRSASSASSLFSPSSTLFSSSRLRYGMSDVMPSGRSRLLEDFRNNR
YPNLQLREIAGHIMEFSQDQHGSRFIQLKLERATPAERQLVFNEILQAAYQLMVDVFGNY
VIQKFFEFGSLEQKLALAERIRGHVLSLALQMYGCRVIQKALEFIPSDQQNEMVRELDGH
VLKCVKDQNGNHVVQKCIECVQPQSLQFIIDAFKGQVFALSTHPYGCRVIQRILEHCLPD
QTLPILEELHQHTEQLVQDQYGNYVIQHVLEHGRPEDKSKIVAEIRGNVLVLSQHKFASN
VVEKCVTHASRTERAVLIDEVCTMNDGPHSALYTMMKDQYANYVVQKMIDVAEPGQRKIV
MHKIRPHIATLRKYTYGKHILAKLEKYYMKNGVDLGPICGPPNGII
NT seq 3561 nt   +upstreamnt  +downstreamnt
atgagcgttgcatgtgtcttgaagagaaaagcagtgctttggcaggactctttcagcccc
cacctgaaacatcaccctcaagaaccagctaatcccaacatgcctgttgttttgacatct
ggaacagggtcgcaagcgcagccacaaccagctgcaaatcaggctcttgcagctgggact
cactccagccctgtcccaggatctataggagttgcaggccgttcccaggacgacgctatg
gtggactacttctttcagaggcagcatggtgagcagcttgggggaggaggaagtggagga
ggcggctataataatagcaaacatcgatggcctactggggataacattcatgcagaacat
caggtgcgttccatggatgaactgaatcatgattttcaagcacttgctctggagggaaga
gcgatgggagagcagctcttgccaggtaaaaagttttgggaaacagatgaatccagcaaa
gatggaccaaaaggaatattcctgggtgatcaatggcgagacagtgcctggggaacatca
gatcattcagtttcccagccaatcatggtgcagagaagacctggtcagagtttccatgtg
aacagtgaggtcaattctgtactgtccccacgatcggagagtgggggactaggcgttagc
atggtggagtatgtgttgagctcatccccgggcgattcctgtctaagaaaaggaggattt
ggcccaagggatgcagacagtgatgaaaacgacaaaggtgaaaagaagaacaagggtacg
tttgatggagataagctaggagatttgaaggaggagggtgatgtgatggacaagaccaat
ggtttaccagtgcagaatgggattgatgcagacgtcaaagattttagccgtacccctggt
aattgccagaactctgctaatgaagtggatcttctgggtccaaaccagaatggttctgag
ggcttagcccagctgaccagcaccaatggtgccaagcctgtggaggatttctccaacatg
gagtcccagagtgtccccttggaccccatggaacatgtgggcatggagcctcttcagttt
gattattcaggcacgcaggtacctgtggactcagcagcagcaactgtgggactttttgac
tacaattctcaacaacagctgttccaaagacctaatgcgcttgctgtccagcagttgaca
gctgctcagcagcagcagtatgcactggcagctgctcatcagccgcacatcggtttagct
cccgctgcgtttgtccccaatccatacatcatcagcgctgctcccccagggacggacccc
tacacagctggattggctgcagcagcgacactaggcccagctgtggtccctcaccagtat
tatggagttactccctggggagtctaccctgccagtcttttccagcagcaagctgccgct
gccgctgcagcaactaattcagctaatcaacagaccaccccacaggctcagcaaggacag
cagcaggttctccgtggaggagccagccaacgtcctttgaccccaaaccagaaccagcag
ggacagcaaacggatccccttgtggcagctgcagcagtgaattctgcccttgcatttgga
caaggtctggcagcaggcatgccaggttatccggtgttggctcctgctgcttactatgac
caaactggtgcccttgtagtgaatgcaggcgcgagaaatggtcttggagctcctgttcga
cttgtagctcctgccccagtcatcattagttcctcagctgcacaagcagctgttgcagca
gccgcagcttcagcaaatggagcagctggtggtcttgctggaacaacaaatggaccattt
cgccctttaggaacacagcagcctcagccccagccccagcagcagcccaataacaacctg
gcatccagttctttctacggcaacaactctctgaacagcaattcacagagcagctccctc
ttctcccagggctctgcccagcctgccaacacatccttgggattcggaagtagcagttct
ctcggcgccaccctgggatccgcccttggagggtttggaacagcagttgcaaactccaac
actggcagtggctcccgccgtgactccctgactggcagcagtgacctttataagaggaca
tcgagcagcttgacccccattggacacagtttttataacggccttagcttttcctcctct
cctggacccgtgggcatgcctctccctagtcagggaccaggacattcacagacaccacct
ccttccctctcttcacatggatcctcttcaagcttaaacctgggaggactcacgaatggc
agtggaagatacatctctgctgctccaggcgctgaagccaagtaccgcagtgcaagcagc
gcctccagcctcttcagcccgagcagcactcttttctcttcctctcgtttgcgatatgga
atgtctgatgtcatgccttctggcaggagcaggcttttggaagattttcgaaacaaccgg
taccccaatttacaactgcgggagattgctggacatataatggaattttcccaagaccag
catgggtccagattcattcagctgaaactggagcgtgccacaccagctgagcgccagctt
gtcttcaatgaaatcctccaggctgcctaccaactcatggtggatgtgtttggtaattac
gtcattcagaagttctttgaatttggcagtcttgaacagaagctggctttggcagaacgg
attcgaggccacgtcctgtcattggcactacagatgtatggctgccgtgttatccagaaa
gctcttgagtttattccttcagaccagcagaatgagatggttcgggaactagatggccat
gtcttgaagtgtgtgaaagatcagaatggcaatcacgtggttcagaaatgcattgaatgt
gtacagccccagtctttgcaatttatcatcgatgcgtttaagggacaggtatttgcctta
tccacacatccttatggctgccgagtgattcagagaatcctggagcactgtctccctgac
cagacactccctattttagaggagcttcaccagcacacagagcagcttgtacaggatcaa
tatggaaattatgtaatccaacatgtactggagcacggtcgtcctgaggataaaagcaaa
attgtagcagaaatccgaggcaatgtacttgtattgagtcagcacaaatttgcaagcaat
gttgtggagaagtgtgttactcacgcctcacgtacggagcgcgctgtgctcatcgatgag
gtgtgcaccatgaacgacggtccccacagtgccttatacaccatgatgaaggaccagtat
gccaactacgtggtccagaagatgattgacgtggcggagccaggccagcggaagatcgtc
atgcataagatccggccccacatcgcaactcttcgtaagtacacctatggcaagcacatt
ctggccaagctggagaagtactacatgaagaacggtgttgacttagggcccatctgtggc
ccccctaatggtatcatctga

  All links  
Ontology (1)   
   KEGG BRITE (1)   
Pathway (1)   
   KEGG PATHWAY (1)   
Disease (5)   
   KEGG DISEASE (2)   
   OMIM (3)   
Genome (1)   
   KEGG GENOME (1)   
Gene (33)   
   KEGG ORTHOLOGY (1)   
   RefGene (17)   
   NCBI-PROTEINID (1)   
   NCBI-Gene (1)   
   HGNC (1)   
   Ensembl (1)   
   RIKEN BRC-DNA (10)   
   OC (1)   
Protein sequence (4)   
   UniProt (1)   
   SWISS-PROT (1)   
   RefSeq(pep) (2)   
DNA sequence (26)   
   RefSeq(nuc) (2)   
   GenBank (12)   
   EMBL (12)   
3D Structure (15)   
   PDB (15)   
Protein domain (5)   
   Pfam (5)   
All databases (91)   

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