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

Gene name
PQBP1, MRX2, MRX55, MRXS3, MRXS8, NPW38, RENS1, SHS
Definition
polyglutamine binding protein 1
Orthology
K12865  
polyglutamine-binding protein 1
Organism
hsa  Homo sapiens (human)
Pathway
Spliceosome
Module
Spliceosome, Prp19/CDC5L complex
Disease
H00480  
Non-syndromic X-linked mental retardation
H00577  
Syndromic X-linked mental retardation with epilepsy or seizures
Brite
KEGG Orthology (KO) [BR:hsa00001]
 Genetic Information Processing
  Transcription
   03040 Spliceosome
    10084 (PQBP1)
Spliceosome [BR:hsa03041]
 Complex B
  Other components
   Prp19 complex
    10084 (PQBP1)
BRITE hierarchy
SSDB OrthologParalogGFIT
Motif
Pfam: 
Motif
Other DBs
NCBI-GI: 
NCBI-GeneID: 
OMIM: 
HGNC: 
HPRD: 
Ensembl: 
Vega: 
UniProt: 
Position
Xp11.23
AA seq 265 aa AA seqDB search
MPLPVALQTRLAKRGILKHLEPEPEEEIIAEDYDDDPVDYEATRLEGLPPSWYKVFDPSC
GLPYYWNADTDLVSWLSPHDPNSVVTKSAKKLRSSNADAEEKLDRSHDKSDRGHDKSDRS
HEKLDRGHDKSDRGHDKSDRDRERGYDKVDRERERDRERDRDRGYDKADREEGKERRHHR
REELAPYPKSKKAVSRKDEELDPMDPSSYSDAPRGTWSTGLPKRNEAKTGADTTAAGPLF
QQRPYPSPGAVLRANAEASRTKQQD
NT seq 798 nt NT seq  +upstreamnt  +downstreamnt
atgccgctgcccgttgcgctgcagacccgcttggccaagagaggcatcctcaaacatctg
gagcctgaaccagaggaagagatcattgccgaggactatgacgatgatcctgtggactac
gaggccaccaggttggagggcctaccaccaagctggtacaaggtgttcgacccttcctgc
gggctcccttactactggaatgcagacacagaccttgtatcctggctctccccacatgac
cccaactccgtggttaccaaatcggccaagaagctcagaagcagtaatgcagatgctgaa
gaaaagttggaccggagccatgacaagtcggacaggggccatgacaagtcggaccgcagc
catgagaaactagacaggggccacgacaagtcagaccggggccacgacaagtctgacagg
gatcgagagcgtggctatgacaaggtagacagagagagagagcgagacagggaacgggat
cgggaccgcgggtatgacaaggcagaccgggaagagggcaaagaacggcgccaccatcgc
cgggaggagctggctccctatcccaagagcaagaaggcagtaagccgaaaggatgaagag
ttagaccccatggaccctagctcatactcagacgccccccggggcacgtggtcaacagga
ctccccaagcggaatgaggccaagactggcgctgacaccacagcagctgggcccctcttc
cagcagcggccgtatccatccccaggggctgtgctccgggccaatgcagaggcctcccga
accaagcagcaggattga

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