KEGG   Homo sapiens (human): 10084Help
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
Module
hsa_M00353  Spliceosome, Prp19/CDC5L complex
Disease
H00480  Non-syndromic X-linked mental retardation
H01913  Renpenning syndrome
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: WW
Motif
Other DBs
NCBI-GeneID: 10084
NCBI-ProteinID: NP_001027553
OMIM: 300463
HGNC: 9330
Ensembl: ENSG00000102103
Vega: OTTHUMG00000024128
Pharos: O60828(Tbio)
UniProt: O60828 A0A0S2Z4V5
LinkDB All DBs
Structure
PDB: 

Jmol
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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