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  
Disease (2)   
   OMIM (2)   
Gene (32)   
   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 (84)   

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