KEGG   Homo sapiens (human): 10084
Entry
10084             CDS       T01001                                 

Gene name
PQBP1, MRX2, MRX55, MRXS3, MRXS8, NPW38, RENS1, SHS
Definition
(RefSeq) polyglutamine binding protein 1
  KO
K12865  polyglutamine-binding protein 1
Organism
hsa  Homo sapiens (human)
Pathway
hsa03040  Spliceosome
Disease
H01913  Renpenning syndrome
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09120 Genetic Information Processing
  09121 Transcription
   03040 Spliceosome
    10084 (PQBP1)
 09180 Brite Hierarchies
  09182 Protein families: genetic information processing
   03041 Spliceosome [BR:hsa03041]
    10084 (PQBP1)
Spliceosome [BR:hsa03041]
 Complex B
  Other components
   Prp19 complex
    10084 (PQBP1)
SSDB
Motif
Pfam: WW
Other DBs
NCBI-GeneID: 10084
NCBI-ProteinID: NP_001027553
OMIM: 300463
HGNC: 9330
Ensembl: ENSG00000102103
Vega: OTTHUMG00000024128
Pharos: O60828(Tbio)
UniProt: O60828 A0A0S2Z4V5
Structure
PDB: 
4BWQ 4BWS

Position
Xp11.23
AA seq 265 aa
MPLPVALQTRLAKRGILKHLEPEPEEEIIAEDYDDDPVDYEATRLEGLPPSWYKVFDPSC
GLPYYWNADTDLVSWLSPHDPNSVVTKSAKKLRSSNADAEEKLDRSHDKSDRGHDKSDRS
HEKLDRGHDKSDRGHDKSDRDRERGYDKVDRERERDRERDRDRGYDKADREEGKERRHHR
REELAPYPKSKKAVSRKDEELDPMDPSSYSDAPRGTWSTGLPKRNEAKTGADTTAAGPLF
QQRPYPSPGAVLRANAEASRTKQQD
NT seq 798 nt   +upstreamnt  +downstreamnt
atgccgctgcccgttgcgctgcagacccgcttggccaagagaggcatcctcaaacatctg
gagcctgaaccagaggaagagatcattgccgaggactatgacgatgatcctgtggactac
gaggccaccaggttggagggcctaccaccaagctggtacaaggtgttcgacccttcctgc
gggctcccttactactggaatgcagacacagaccttgtatcctggctctccccacatgac
cccaactccgtggttaccaaatcggccaagaagctcagaagcagtaatgcagatgctgaa
gaaaagttggaccggagccatgacaagtcggacaggggccatgacaagtcggaccgcagc
catgagaaactagacaggggccacgacaagtcagaccggggccacgacaagtctgacagg
gatcgagagcgtggctatgacaaggtagacagagagagagagcgagacagggaacgggat
cgggaccgcgggtatgacaaggcagaccgggaagagggcaaagaacggcgccaccatcgc
cgggaggagctggctccctatcccaagagcaagaaggcagtaagccgaaaggatgaagag
ttagaccccatggaccctagctcatactcagacgccccccggggcacgtggtcaacagga
ctccccaagcggaatgaggccaagactggcgctgacaccacagcagctgggcccctcttc
cagcagcggccgtatccatccccaggggctgtgctccgggccaatgcagaggcctcccga
accaagcagcaggattga

  All links  
Ontology (2)   
   KEGG BRITE (2)   
Pathway (1)   
   KEGG PATHWAY (1)   
Disease (3)   
   KEGG DISEASE (1)   
   OMIM (2)   
Genome (1)   
   KEGG GENOME (1)   
Gene (20)   
   KEGG ORTHOLOGY (1)   
   RefGene (8)   
   NCBI-PROTEINID (1)   
   NCBI-Gene (1)   
   HGNC (1)   
   Ensembl (1)   
   RIKEN BRC-DNA (4)   
   OC (1)   
   PHAROS (1)   
   VEGA (1)   
Protein sequence (16)   
   UniProt (2)   
   SWISS-PROT (1)   
   RefSeq(pep) (13)   
DNA sequence (83)   
   RefSeq(nuc) (15)   
   GenBank (34)   
   EMBL (34)   
Protein domain (1)   
   Pfam (1)   
All databases (127)   

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