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FLASH GENE

Symbol

PQBP1

contributors: mct/npt/pgu - updated : 07-01-2017

HGNC name	polyglutamine binding protein 1
HGNC id	9330

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	GIHS Golabi-Ito-Hall syndrome RENS1 mental retardation X-linked, Renpenning syndrome 1
Location	Xp11.23      Physical location : 48.755.194 - 48.760.421
Synonym name	nuclear protein containing WW domain 38kDa
	polyglutamine tract-binding protein 1
Synonym symbol(s)	NPW38

DNA

TYPE	functioning gene
STRUCTURE	5.23 kb     7 Exon(s)

10 Kb 5' upstream gene genomic sequence study

motif

repetitive sequence   ALU

MAPPING

cloned

Y

linked

N

status

provisional

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_005710 6 splicing 1147 NP_005701 - 265 - 2000 11163963 NM_001032381 7 - 1014 NP_001027553 30.5 265 fetal brain and adult 2000 11163963 NM_001032383 7 splicing 1093 NP_001027555 - 265 fetal brain and adult 2000 11163963 NM_001032382 7 splicing 1082 NP_001027554 30.5 265 - 2000 11163963 NM_001032384 7 splicing 1002 NP_001027556 30 265 - 2000 11163963 NM_001167989 - - 994 NP_001161461 - 264 - 2000 11163963 NM_001167990 - - 972 NP_001161462 - 257 - 2000 11163963 NM_001167992 - - 611 NP_001161464 - 165 - 2000 11163963 NM_144495 - - 797 NP_652766 - 170 - 2000 11163963

EXPRESSION

Type	ubiquitous

expressed in	(based on citations)
organ(s)	System Organ level 1 Organ level 2 Organ level 3 Organ level 4 Level Pubmed Species Stage Rna symbol Cardiovascular heart         Nervous brain       predominantly Homo sapiens Reproductive male system prostate       Respiratory lung       highly Urinary kidney

cells

System Cell Pubmed Species Stage Rna symbol Nervous neuron Homo sapiens

cell lineage

cell lines

fluid/secretion

at STAGE

physiological period

fetal, neonatal

Text	highly in fetal central nervous system and decrease after birth

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	two conserved TRP (w) residues WW domain, interacting with the large subunit of RNA polymerase 2, with a critical role of the WW domain in the function of the PQBP1 protein (Tapia 2010), WW domain, which mediates specific interactions with proline-rich protein regions
	homopolymeric glutamine repeat
	polar amino acid rich domain
	nuclear localization signal (NLS)
	includes high content of unstructured regions in the C-terminal domain, in spite of the binding of U5-15kD

HOMOLOGY

interspecies

homolog to murine Pqbp1

Homologene

FAMILY

CATEGORY

regulatory , DNA associated , transcription factor

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,cytoplasm
	intracellular,nucleus,nucleoplasm,nuclear bodies,nuclear speckles
	intracellular,nucleus,nucleolus
text	localizes in nuclear speckles and is engaged in transcription and splicing
	in primary neurons, PQBP1 co-localizes with its interaction partners in specific cytoplasmic granules
	upon stress, PQBP1 moves into Stress granules, together with FMR1 and with its novel-binding partners Caprin-1, DDX1 and KHSRP
	nuclear-cytoplasmic shuttling protein

basic FUNCTION	may be involved in neuronal proliferation and/or maturation
	plays an important role in X-linked mental retardation
	nuclear protein that regulates pre-mRNA splicing and transcription
	possible role for PQBP1 in cytoplasmic RNA metabolism
	may be a multifunctional protein with a role in regulating cytoplasmic signalling events involved in mRNA metabolism and thereby provide new insights into the pathogenesis of intellectual disability
	can affect the alternative messenger RNA (mRNA) splicing (AS) of multiple mRNAs and specific affected targets whose splice site determination may contribute to the disease phenotype in PQBP1-linked neurological disorders
	nuclear-cytoplasmic shuttling protein that is engaged in RNA metabolism and transcription
	PQBP1 and DNM2 are components of a signaling pathway that orchestrates neuronal ciliary morphogenesis in the brain
	essential roles for PQBP1 and a binding partner, WBP11, in early development

CELLULAR PROCESS

nucleotide, transcription, regulation

PHYSIOLOGICAL PROCESS

text	transcription activator

PATHWAY

metabolism

signaling

a component

WBP11-PQBP1-induced nuclear inclusions are distinct from the protein aggregates that are associated with polyglutamine diseases and represent dynamic nucleoplasmic heteropolymers of WBP11 and PQBP1

INTERACTION

DNA

RNA	binds RNA-binding proteins with an established role in cytoplasmic RNA localization and translation regulation

small molecule

protein	interacting with POU3F2
	pre-mRNA splicing factor WBP11, is a protein ligand of PQBP1
	interacts with disease proteins containing expanded polyglutamine repeats and also with RNA polymerase II and a spliceosomal protein U5-15kD
	PQBP1 binds to TXNL4A via a continuous 23-AAs segment within its C-terminal domain
	WBP11 splicing factor, is one of the functional partners of PQBP1 from a potentially large repertoire of other signaling ligands
	binds two key proteins of the motor protein-related dynactin complex
	interact with triplet repeat disease gene products such as ataxin and huntingtin through their poly-glutamine (poly-Q) tracts
	SOX2 regulated the transcription of PQBP1 in neural stem progenitor cells (NSPCs)
	PQBP1 interacts with DNM2 and thereby inhibits its GTPase activity
	TXNL4A hydrophobic groove recognizes a YxxPxxVL motif in PQBP1
	PQBP1 directly binds to reverse-transcribed HIV-1 DNA and interacts with CGAS to initiate an IRF3-dependent innate respons
	PQBP1 and WBP11 negatively modulates the U5-15kD binding of PQBP1 by an allosteric mechanism

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

SHS , MRX55 , RENS1 , GIHS

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function constitutional     --over   results in the formation of nuclear inclusions, reminiscent of the protein aggregates that are detected in polyglutamine diseases

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS