PQBP1 - polyglutamine binding protein 1 Gene

Also Known as SHS; MRX2; MRX55; MRXS3; MRXS8; NPW38; RENS1

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 10084

About PQBP1

Cytogenetic location: Xp11.23 Genomic coordinates (GRCh38): X:48,897,930-48,903,143 (from NCBI)

This gene has 19 transcripts (splice variants), 183 orthologues, 2 paralogues and is associated with 6 phenotypes. Ubiquitous expression in ovary (RPKM 25.3), adrenal (RPKM 17.1) and 25 other tissues.

Summary

This gene encodes a nuclear polyglutamine-binding protein that is involved with transcription activation. The encoded protein contains a WW domain. Mutations in this gene have been found in patients with Renpenning syndrome 1 and Other syndromes with X-linked cognitive disability. Multiple alternatively spliced transcript variants that encode different protein isoforms have been described for this gene.[provided by RefSeq, Nov 2009]

PQBP1 Products (9)

mRNA	Protein	Name
NM_001032381.2	NP_001027553.1	polyglutamine-binding protein 1 isoform 1
NM_001032382.2	NP_001027554.1	polyglutamine-binding protein 1 isoform 1
NM_001032383.2	NP_001027555.1	polyglutamine-binding protein 1 isoform 1
NM_001032384.1	NP_001027556.1	polyglutamine-binding protein 1 isoform 1
NM_001167989.2	NP_001161461.1	polyglutamine-binding protein 1 isoform 4
NM_001167990.2	NP_001161462.1	polyglutamine-binding protein 1 isoform 5
NM_001167992.1	NP_001161464.1	polyglutamine-binding protein 1 isoform 6
NM_005710.2	NP_005701.1	polyglutamine-binding protein 1 isoform 1
NM_144495.3	NP_652766.1	polyglutamine-binding protein 1 isoform 3

Gene Ontology

Molecular Function
Biological Process

Molecular Function GO Annotation	Evidence	References	Source
enables double-stranded DNA binding	IDA IDA: Inferred from direct assay	26046437	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	16713569	GOA
enables ribonucleoprotein complex binding	IDA IDA: Inferred from direct assay	23512658	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in activation of innate immune response	IDA IDA: Inferred from direct assay	26046437	GOA
involved in alternative mRNA splicing, via spliceosome	IMP IMP: Inferred from mutant phenotype	23512658	GOA
involved in cellular response to exogenous dsRNA	IDA IDA: Inferred from direct assay	26046437	GOA
involved in defense response to virus	IDA IDA: Inferred from direct assay	26046437	GOA
involved in positive regulation of defense response to virus by host	IDA IDA: Inferred from direct assay	26046437	GOA
involved in positive regulation of type I interferon production	IDA IDA: Inferred from direct assay	26046437	GOA
acts upstream of or within regulation of RNA splicing	IMP IMP: Inferred from mutant phenotype	23512658	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

PQBP1 Protein Structure

0
100
200
265 a.a.

Protein Preferred Names	Protein Names
polyglutamine-binding protein 1	38 kDa nuclear protein containing a WW domain

PQBP1 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	PQBP1	O60828	MAPRE1	Homo sapiens	Q15691	Validated Y2H	25416956
Intra	PQBP1	O60828	MAPRE1	Homo sapiens	Q15691	Validated Y2H	32296183
Intra	PQBP1	O60828	MAPRE1	Homo sapiens	Q15691	Y2H Array	25416956
Intra	PQBP1	O60828	HTT	Homo sapiens	P42858	Y2H Array	32814053
Intra	PQBP1	O60828	HTT	Homo sapiens	P42858	Validated Y2H	32814053
Intra	PQBP1	O60828	HTT	Homo sapiens	P42858	Y2H Pooling	32814053
Intra	PQBP1	O60828	GOLGA2	Homo sapiens	Q08379	Validated Y2H	25416956
Intra	PQBP1	O60828	GOLGA2	Homo sapiens	Q08379	Validated Y2H	26871637
Intra	PQBP1	O60828	GOLGA2	Homo sapiens	Q08379	Y2H Array	26871637
Intra	PQBP1	O60828	GOLGA2	Homo sapiens	Q08379	Y2H Prey Pooling	26871637
Intra	PQBP1	O60828	WBP11	Homo sapiens	Q9Y2W2	Anti Tag CoIP	33961781
Intra	PQBP1	O60828	WBP11	Homo sapiens	Q9Y2W2	SPR	27314904
Intra	PQBP1	O60828	WBP11	Homo sapiens	Q9Y2W2	Y2H Array	16713569
Intra	PQBP1	O60828	LZTS2	Homo sapiens	Q9BRK4	Validated Y2H	26871637
Intra	PQBP1	O60828	LZTS2	Homo sapiens	Q9BRK4	Y2H Array	25416956
Intra	PQBP1	O60828	LZTS2	Homo sapiens	Q9BRK4	Y2H Prey Pooling	26871637
Intra	PQBP1	O60828	LZTS2	Homo sapiens	Q9BRK4	Y2H Array	26871637
Intra	PQBP1	O60828	LZTS2	Homo sapiens	Q9BRK4	Y2H Prey Pooling	25416956
Intra	PQBP1	O60828	ATXN1	Homo sapiens	P54253	Validated Y2H	32814053
Intra	PQBP1	O60828	ATXN1	Homo sapiens	P54253	Y2H Array	32814053
Intra	PQBP1	O60828	ATXN1	Homo sapiens	P54253	Y2H Pooling	32814053

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases	Alias
Renpenning Syndrome 1	Renpenning Syndrome Golabi-Ito-Hall Syndrome Mrxs3 Mrxs8 X-Linked Intellectual Disability Due To Pqbp1 Mutations RENS1 Sutherland-Haan X-Linked Mental Retardation Syndrome Shs Mrx55 X-Linked Intellectual Disability, Renpenning Type Sutherland-Haan Syndrome Mental Retardation, X-Linked, Renpenning Type Mental Retardation, X-Linked, With Spastic Diplegia Mental Retardation, X-Linked, Syndromic 3 Mental Retardation, X-Linked, Syndromic 8 Mental Retardation, X-Linked 55 Syndromic X-Linked Mental Retardation 8 X-Linked Mental Retardation Renpenning Type X-Linked Mental Retardation With Spastic Diplegia Sutherland-Haan X-Linked Intellectual Disability Syndrome X-Linked Intellectual Disability With Spastic Diplegia Hamel Cerebropalatocardiac Syndrome Porteous Syndrome X-Linked Intellectual Deficit Due To Pqbp1 Mutations X-Linked Intellectual Deficit, Renpenning Type X-Linked Intellectual Disability, Sutherland-Haan Type Hamel Cerebro-Palato-Cardiac Syndrome Renpenning Syndrome, Type 1
X-Linked Intellectual Disability, Golabi-Ito-Hall Type
X-Linked Intellectual Disability, Porteous Type
Microcephaly	Microencephaly Microcephalus Microcephalic Nanocephaly Congenital Microcephaly Brain Hypoplasia Brain Nondevelopment Cephalic Hypoplasia Undeveloped Cerebrum Undeveloped Brain Micrencephalon Micrencephaly
Intellectual Developmental Disorder, X-Linked 2	XLID2 Mrx2
Partington Syndrome	X-Linked Reticulate Pigmentary Disorder PRTS Partington X-Linked Mental Retardation Syndrome Mrxs1 Mrx36 Intellectual Developmental Disorder, X-Linked, Syndromic 1 Partington Disease Pdr Partington-Mulley Syndrome Russell-Silver Syndrome, X-Linked Mental Retardation, X-Linked, Syndromic 1 Mental Retardation, X-Linked, With Dystonic Movements, Ataxia, And Seizures Mental Retardation, X-Linked 36 X-Linked Reticulate Pigmentary Disorder With Systemic Manifestations X-Linked Russell-Silver Syndrome Intelectual Disability-Dystonic Movements-Ataxia-Seizures Syndrome Intellectual Disability, X-Linked, Syndromic 1 Intellectual Disability, X-Linked, With Dystonic Movements, Ataxia, And Seizures Partington X-Linked Intellectual Disability Syndrome X-Linked Intellectual Deficit-Dystonia-Dysarthria X-Linked Mental Retardation With Dystonic Movements, Ataxia, And Seizures Familial Cutaneous Amyloidosis X-Linked Cutaneous Amyloidosis Xlpdr X-Linked Intellectual Disability-Dystonia-Dysarthria Syndrome Pigmentary Disorder, Reticulate, With Systemic Manifestations
Non-Syndromic X-Linked Intellectual Disability 106	Mrx106 X-Linked Mental Retardation 106
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2	MLASA2 Myopathy With Lactic Acidosis And Sideroblastic Anemia 2 Myopathy, Lactic Acidosis, And Sideroblastic Anemia, Type 2
Arboleda-Tham Syndrome	Kat6a Syndrome Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome ARTHS Mrd32 Mental Retardation, Autosomal Dominant 32, Formerly Mrd32, Formerly Autosomal Dominant Mental Retardation 32 Autosomal Dominant Non-Syndromic Intellectual Disability 32 Arboleda-Tham
Syndromic X-Linked Intellectual Disability	X-Linked Syndromic Intellectual Disability
Armfield Syndrome	X-Linked Intellectual Disability, Armfield Type Armfield X-Linked Mental Retardation Syndrome Mental Retardation Syndrome, X-Linked, Armfield Type Mrxsa Syndromic X-Linked Mental Retardation Armfield Type
Corpus Callosum, Agenesis Of, With Abnormal Genitalia	Proud Syndrome Corpus Callosum Agenesis-Abnormal Genitalia Syndrome Acc With Abnormal Genitalia Proud-Levine-Carpenter Syndrome Microcephaly-Corpus Callosum Agenesis-Abnormal Genitalia Syndrome Corpus Callosum Agenesis With Abnormal Genitalia New X-Linked Syndrome With Seizures, Acquired Micrencephaly, And Agenesis Of The Corpus Callosum Proud Levine Carpenter Syndrome Acc-Abnormal Genitalia Syndrome Agenesis Of The Corpus Callosum, With Abnormal Genitalia ACCAG Micrencephaly-Corpus Callosum Agenesis-Abnormal Genitalia Congenital Neurologic Anomalies
Microphthalmia, Syndromic 1	MCOPS1 Lenz Microphthalmia Syndrome Lenz Dysplasia Mcops4 Syndromic Microphthalmia 1 Lenz Microphthalmia Maa Microphthalmia Or Anophthalmos With Associated Anomalies Syndromic Microphthalmia Type 4 Microphthalmia, Syndromic 4 Microphthalmia, Syndromic 4, Formerly Mcops4, Formerly Anop1, Formerly Maa, Formerly Lenz Type Microphthalmia Syndromic Microphthalmia 4 Microphthalmia Lenz Type Microphthalmia Syndromic 1 Syndromic Microphthalmia Type 1 Microphthalmia Syndromic 4 Microphthalmia With Ankyloblepharon And Intellectual Disability Microphthalmia, Lenz Type Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome Microphthalmia, Syndromic, 1 Anop1 Microphthalmia, Syndromic, Type 1
Pettigrew Syndrome	PGS Mrxs5 Mrx59 Mrxs21 X-Linked Intellectual Disability-Dandy-Walker Malformation-Basal Ganglia Disease-Seizures Syndrome Mental Retardation, X-Linked, Syndromic 5 Mrxsf Syndromic X-Linked Intellectual Disability 5 Fried Syndrome Mental Retardation, X-Linked Syndromic 5 Mental Retardation, X-Linked, With Dandy-Walker Malformation, Basal Ganglia Disease, And Seizures Mental Retardation, X-Linked, Syndromic, Fried Type Mental Retardation, X-Linked, Syndromic 21 Syndromic X-Linked Mental Retardation 21 Syndromic X-Linked Mental Retardation Fried Type X-Linked Metal Retardation With Dandy-Walker Malformation, Basal Ganglia Disease, And Seizures Dandy-Walker Malformation With Intellectual Disability, Basal Ganglia Disease An Dandy-Walker Malformation With Intellectual Disability, Basal Ganglia Disease And Seizures X-Linked Syndromic Intellectual Disability 5 X-Linked Intellectual Disability With Dandy-Walker Malformation Basal Ganglia Disease And Seizures X-Linked Intellectual Disability - Dandy-Walker Malformation - Basal Ganglia Disease - Seizures X-Linked Intellectual Disability-Hypotonia-Facial Dysmorphism-Aggressive Behavior Syndrome Mental Retardation, X-Linked Syndromic, Fried Type Dandy-Walker Malformation With Mental Retardation, Basal Ganglia Disease, And Seizures Mental Retardation, X-Linked 59
Syndromic Intellectual Disability
Melnick-Needles Syndrome	MNS Melnick-Needles Osteodysplasty Osteodysplasty Of Melnick And Needles Osteochondrodysplasias
Trichohepatoenteric Syndrome 1	Trichohepatoenteric Syndrome Syndromic Diarrhea Tricho-Hepato-Enteric Syndrome Sd/The Syndromic Diarrhea/Tricho-Hepato-Enteric Syndrome THES1 Phenotypic Diarrhea Thes Phenotypic Diarrhea Of Infancy Diarrhea, Syndromic Diarrhea, Fatal Infantile, With Trichorrhexis Nodosa Intractable Diarrhea With Phenotypic Anomalies Syndromatic Diarrhea Fatal Infantile Diarrhea With Trichorrhexis Nodosa
Coffin-Siris Syndrome 1	Coffin-Siris Syndrome Fifth Digit Syndrome Css CSS1 Mrd12 Mental Retardation, Autosomal Dominant 12 Hhid Dwarfism-Onychodysplasia Hypertrichosis, Hyperkeratosis, Mental Retardation, And Distinctive Facial Features Autosomal Dominant Mental Retardation 12 Short Stature-Onychodysplasia. Intellectual Disability With Absent Fifth Fingernail And Terminal Phalanx Mental Retardation With Hypoplastic Fifth Fingernails And Toenails Short Stature-Onychodysplasia Coffin-Siris Syndrome, Type 1 Mental Retardation, Autosomal Dominant, Type 12
Otopalatodigital Syndrome Spectrum Disorder	Opd Spectrum Disorder Opsd Fronto-Otopalatodigital Osteodysplasia
Ohdo Syndrome	Young Simpson Syndrome Ohdo Blepharophimosis Syndrome Blepharophimosis Syndrome Ohdo Type Blepharophimosis Intellectual Disability Syndromes Bmrs Blepharophimosis-Intellectual Disability Syndrome Mental Retardation, Congenital Heart Disease, Blepharophimosis, Blepharoptosis, And Hypoplastic Teeth Sbbys Syndrome Say Barber Biesecker Young-Simpson Syndrome Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type Bmrs, Ohdo Type Blepharophimosis Syndrome, Ohdo Type Ohdo-Madokoro-Sonoda Syndrome Blepharophimosis - Intellectual Disability Syndrome, Ohdo Type Blepharophimosis - Intellectual Disability Syndrome
Atrial Septal Defect 2	ASD2 Atrial Heart Septal Defect 2 Atrial Septal Defect-2 Asd Ii Septal Defect, Atrial, Type 2
Microphthalmia	Microphthalmos Isolated Anophthalmia-Microphthalmia Syndrome Isolated Microphthalmia-Anophthalmia-Coloboma Simple Microphthalmos Clinical Anophthalmia Isolated Anophthalmia - Microphthalmia Isolated Pure Microphthalmia Mac Spectrum Microphthalmia-Anophthalmia-Coloboma Spectrum Primitive Anophthalmia Globe Of Eye Small Small Eyeball Hypoplasia Of Eye Isolated Nanophthalmos Rudimentary Eye Dysplasia Of Eye
Spastic Diplegia	Diplegic Infantile Cerebral Palsy Little'S Disease Cerebral Palsy Cerebral Spastic Infantile Paralysis Infantile Diplegic Cerebral Palsy Infantile Spastic Cerebral Palsy Littles Disease Spastic Cerebral Palsy
Spinocerebellar Ataxia 1	Spinocerebellar Ataxia Type 1 SCA1 Olivopontocerebellar Atrophy I Opca1 Opca4 Menzel Type Opca Schut-Haymaker Type Opca Spinocerebellar Atrophy I Opca I Olivopontocerebellar Atrophy Iv Opca Iv Cerebelloparenchymal Disorder I Cpd1 Olivopontocerebellar Atrophy 1 Cerebelloparenchymal Disorder 1 Olivopontocerebellar Atrophy 4 Spinocerebellar Atrophy 1 Type 1 Spinocerebellar Ataxia Spinocerebellar Ataxia-1 Ataxia, Spinocerebellar, Type 1
Autism Spectrum Disorder	Asd Autism Spectrum Disorders Autistic Continuum Pervasive Developmental Disorder Pervasive Development Disorder Autistic Behavior Autistic Disorder Autistic Autistic Disorder Of Childhood Onset Infantile Autism Childhood Autism Kanner Syndrome Pervasive Developmental Delay Nos Pervasive Developmental Disorder, Not Otherwise Specified
Non-Syndromic X-Linked Intellectual Disability	X-Linked Non-Syndromic Intellectual Disability Non-Specific X-Linked Mental Retardation X-Linked Non-Specific Intellectual Disability
Autism	Autistic Disorder Autism Susceptibility 1 Childhood Autism Autistic Disorder Of Childhood Onset Infantile Autism Kanner'S Syndrome Autistic
Congenital Nervous System Abnormality	Congenital Neurologic Anomaly Congenital Nervous System Disorder
West Syndrome	Infantile Spasms Infantile Spasms Syndrome Infantile Spasm X-Linked Infantile Spasm Syndrome X-Linked Infantile Spasms Epileptic Encephalopathy, Early Infantile, 1 Is Tonic Spasms With Clustering, Arrest Of Psychomotor Development And Hypsarrhythmia On Eeg West'S Syndrome Spasms, Infantile Is -[Infantile Spasm] Salaam Spasm Salaam Tic

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS11043	PQBP1 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Rattus norvegicus	PQBP1	RGD	RGD:1549750
Bos taurus	PQBP1	VGNC	VGNC:33280
Macaca mulatta	PQBP1	VGNC	VGNC:76388
Felis catus	PQBP1	VGNC	VGNC:69028
Canis familiaris	PQBP1	VGNC	VGNC:44934
Mus musculus	PQBP1	MGD	MGI:1859638
Others	PQBP1	NCBI