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

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