1. Gene
  2. ASXL3 - ASXL transcriptional regulator 3 Gene

ASXL3 - ASXL transcriptional regulator 3 Gene

中文名称:ASXL 转录调节因子 3

种属: Homo sapiens

同用名: BRPS; KIAA1713

基因 ID: 80816 | 基因类型: protein coding

关于 ASXL3

Cytogenetic location: 18q12.1 Genomic coordinates (GRCh38): 18:33,578,219-33,751,195 (from NCBI)

This gene has 17 transcripts (splice variants), 140 orthologues, 2 paralogues and is associated with 3 phenotypes. Biased expression in testis (RPKM 1.6), ovary (RPKM 1.3) and 12 other tissues.

功能概要

该基因编码一种含有植物同源结构域 (PHD) 锌指结构域的蛋白质,该结构域在基因转录调控中发挥作用。编码的蛋白质已被证明可以通过结合并抑制两种核激素受体、氧固醇受体 LXR-α (LXRalpha) 和甲状腺激素受体β (TRbeta) 的转录活性来负向调节脂肪生成。编码的蛋白质还可以抑制组蛋白去泛素化。该基因的突变已在患有 Bainbridge-Ropers 综合征的人类患者中发现,该综合征的特征是进食困难、发育迟缓和其他特征。[RefSeq 提供,2017 年 5 月]

This gene encodes a protein containing a plant homeodomain (PHD) zinc finger domain that plays a role in the regulation of gene transcription. The encoded protein has been shown to negatively regulate lipogenesis by binding to and inhibiting the transcriptional activity of two nuclear hormone receptors, oxysterols receptor LXR-alpha (LXRalpha) and Thyroid Hormone Receptor beta (TRbeta). The encoded protein may also inhibit histone deubiquitination. Mutations in this gene have been identified in human patients with Bainbridge-Ropers syndrome, which is characterized by feeding difficulties, developmental delay and Other features. [provided by RefSeq, May 2017]

ASXL3 基因产物(1)

mRNA Protein Name
NM_030632.3 NP_085135.1 putative Polycomb group protein ASXL3

ASXL3 蛋白结构

HARE-HTH

HARE-HTH: HB1, ASXL, restriction endonuclease HTH domain (11 - 81)

ASXH

ASXH: Asx homology domain (232 - 361)

PHD_3

PHD_3: PHD domain of transcriptional enhancer, Asx (2189 - 2246)

  • 0
  • 400
  • 800
  • 1200
  • 1600
  • 2000
  • 2248 a.a.
蛋白主名 其他名称

putative Polycomb group protein ASXL3

additional sex combs like 3, transcriptional regulator

关联疾病

疾病名称 别名
Bainbridge-Ropers Syndrome

BRPS

Severe Feeding Difficulties-Failure To Thrive-Microcephaly Due To Asxl3 Deficiency Syndrome

Asxl3-Related Disorder

Bohring-Opitz Syndrome

C-Like Syndrome

Bohring Syndrome

Opitz Trigonocephaly-Like Syndrome

BOPS

Oberklaid-Danks Syndrome

Bos

Bos Syndrome

Carrion'S Disease

Oroya Fever

Carrion Disease

Bartonellosis Due To Bartonella Bacilliformis Infection

Bartonella Infections

Systemic Bartonellosis Due To Bartonella Bacilliformis

Systemic Carrión Disease

Systemic Bartonellosis

Bartonella Fever

Systemic Epstein-Barr Virus Positive T-Cell Lymphoma Of Childhood

Ebv-Positive T-Cell Lymphoproliferative Disorder Of Childhood

Systemic Epstein-Barr Virus-Positive T-Cell Lymphoma Of Childhood

Systemic Ebv-Positive T-Cell Lymphoma Of Childhood

Systemic Ebv+ T-Cell Lymphoma Of Childhood

Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder

CHDFIDD

Cdk13-Related Disorder

Cdk13-Related Chdfidd

Cdk13-Related Congenital Heart Defects, Dysmorphic Facial Features, Intellectual Developmental Disorder

Trench Fever

His-Werner Disease

Quintan Fever

Shin Bone Fever

Wolhynian Fever

Tibialgic Fever

Bartonellosis Due To Bartonella Quintana Infection

Febris Quintata

Five Day Fever

Fever Due To Rickettsia Quintana

Febris Quintana

Fever Due To Bartonella Quintana

Fever Due To Rochalimaea Quintana

Meuse Fever

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

White-Sutton Syndrome

WHSUS

Mrd37

Intellectual Disability-Microcephaly-Strabismus-Behavioral Abnormalities Syndrome

Mental Retardation, Autosomal Dominant 37

Autosomal Dominant Mental Retardation 37

Pogz-Related Intellectual Disability Syndrome

Epilepsy With Generalized Tonic-Clonic Seizures

Tonic-Clonic Epilepsy

Epileptic Seizures, Tonic-Clonic

Grand Mal Epilepsy

Epilepsy, Tonic-Clonic

Hemophagocytic Lymphohistiocytosis, Familial, 2

Familial Hemophagocytic Lymphohistiocytosis 2

FHL2

Hplh2

Hlh2

Hemophagocytic Lymphohistiocytosis, Familial, 2, Susceptibility To

Lymphohistiocytosis, Hemophagocytic, Familial, Type 2

Noonan Syndrome 1

Noonan Syndrome

NS1

Male Turner Syndrome

Female Pseudo-Turner Syndrome

Turner Phenotype With Normal Karyotype

Noonan Syndrome With Pigmented Villonodular Synovitis

Turner'S Phenotype, Karyotype Normal

Familial Turner Syndrome

Noonan'S Syndrome

Noonan-Ehmke Syndrome

Ns

Pseudo-Ullrich-Turner Syndrome

Turner Syndrome In Female With X Chromosome

Turner-Like Syndrome

Ullrich-Noonan Syndrome

Noonan-Like/Multiple Giant Cell Lesion Syndrome

Noonan Syndrome-Like Disorder With Multiple Giant Cell Lesions

Pterygium Colli Syndrome

Noonan Syndrome, Type 1

Turner Syndrome, Male

Microcephaly

Microencephaly

Microcephalus

Microcephalic

Nanocephaly

Congenital Microcephaly

Brain Hypoplasia

Brain Nondevelopment

Cephalic Hypoplasia

Undeveloped Cerebrum

Undeveloped Brain

Micrencephalon

Micrencephaly

Cornelia De Lange Syndrome

De Lange Syndrome

Brachmann De Lange Syndrome

Brachmann-De Lange Syndrome

Cdls

Bdls

Typus Degenerativus Amstelodamensis

Congenital Nervous System Abnormality

Congenital Neurologic Anomaly

Congenital Nervous System Disorder

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

直系同源

种属 基因名 来源 基因 ID
Bos taurus ASXL3 VGNC VGNC:26230
Mus musculus ASXL3 MGD MGI:2685175
Macaca mulatta ASXL3 VGNC VGNC:70152
Canis familiaris ASXL3 VGNC VGNC:38198
Felis catus ASXL3 VGNC VGNC:59986
Rattus norvegicus ASXL3 RGD RGD:1305869