1. Gene
  2. PQBP1 - polyglutamine binding protein 1 Gene

PQBP1 - polyglutamine binding protein 1 Gene

中文名称:聚谷氨酰胺结合蛋白 1

种属: Homo sapiens

同用名: SHS; MRX2; MRX55; MRXS3; MRXS8; NPW38; RENS1

基因 ID: 10084 | 基因类型: protein coding

关于 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.


该基因编码参与转录激活的核聚谷氨酰胺结合蛋白。编码的蛋白质包含一个 WW 结构域。在患有 Renpenning 综合征 1 和其他 X 连锁认知障碍综合征的患者中发现了该基因的突变。已针对该基因描述了编码不同蛋白质亚型的多个选择性剪接转录物变体。[RefSeq 提供,2009 年 11 月]

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 基因产物(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

PQBP1 蛋白结构


WW: WW domain (48 - 76)

  • 0
  • 100
  • 200
  • 265 a.a.
蛋白主名 其他名称

polyglutamine-binding protein 1

38 kDa nuclear protein containing a WW domain


疾病名称 别名
Renpenning Syndrome 1

Renpenning Syndrome

Golabi-Ito-Hall Syndrome



X-Linked Intellectual Disability Due To Pqbp1 Mutations


Sutherland-Haan X-Linked Mental Retardation Syndrome



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





Congenital Microcephaly

Brain Hypoplasia

Brain Nondevelopment

Cephalic Hypoplasia

Undeveloped Cerebrum

Undeveloped Brain



Intellectual Developmental Disorder, X-Linked 2



Partington Syndrome

X-Linked Reticulate Pigmentary Disorder


Partington X-Linked Mental Retardation Syndrome



Intellectual Developmental Disorder, X-Linked, Syndromic 1

Partington Disease


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


X-Linked Intellectual Disability-Dystonia-Dysarthria Syndrome

Pigmentary Disorder, Reticulate, With Systemic Manifestations

Non-Syndromic X-Linked Intellectual Disability 106


X-Linked Mental Retardation 106

Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2


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



Mental Retardation, Autosomal Dominant 32, Formerly

Mrd32, Formerly

Autosomal Dominant Mental Retardation 32

Autosomal Dominant Non-Syndromic Intellectual Disability 32


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


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


Micrencephaly-Corpus Callosum Agenesis-Abnormal Genitalia

Congenital Neurologic Anomalies

Microphthalmia, Syndromic 1


Lenz Microphthalmia Syndrome

Lenz Dysplasia


Syndromic Microphthalmia 1

Lenz Microphthalmia


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


Microphthalmia, Syndromic, Type 1

Pettigrew Syndrome





X-Linked Intellectual Disability-Dandy-Walker Malformation-Basal Ganglia Disease-Seizures Syndrome

Mental Retardation, X-Linked, Syndromic 5


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


Melnick-Needles Osteodysplasty

Osteodysplasty Of Melnick And Needles


Trichohepatoenteric Syndrome 1

Trichohepatoenteric Syndrome

Syndromic Diarrhea

Tricho-Hepato-Enteric Syndrome


Syndromic Diarrhea/Tricho-Hepato-Enteric Syndrome


Phenotypic Diarrhea


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




Mental Retardation, Autosomal Dominant 12



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


Fronto-Otopalatodigital Osteodysplasia

Ohdo Syndrome

Young Simpson Syndrome

Ohdo Blepharophimosis Syndrome

Blepharophimosis Syndrome Ohdo Type

Blepharophimosis Intellectual Disability Syndromes


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


Atrial Heart Septal Defect 2

Atrial Septal Defect-2

Asd Ii

Septal Defect, Atrial, Type 2



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


Olivopontocerebellar Atrophy I



Menzel Type Opca

Schut-Haymaker Type Opca

Spinocerebellar Atrophy I

Opca I

Olivopontocerebellar Atrophy Iv

Opca Iv

Cerebelloparenchymal Disorder I


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


Autism Spectrum Disorders

Autistic Continuum

Pervasive Developmental Disorder

Pervasive Development Disorder

Autistic Behavior

Autistic Disorder


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


Autistic Disorder

Autism Susceptibility 1

Childhood Autism

Autistic Disorder Of Childhood Onset

Infantile Autism

Kanner'S Syndrome


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


Tonic Spasms With Clustering, Arrest Of Psychomotor Development And Hypsarrhythmia On Eeg

West'S Syndrome

Spasms, Infantile

Is -[Infantile Spasm]

Salaam Spasm

Salaam Tic

疾病名称 别名
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


种属 基因名 来源 基因 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