1. Gene
  2. UBTF - upstream binding transcription factor Gene

UBTF - upstream binding transcription factor Gene

中文名称:上游结合转录因子

种属: Homo sapiens

同用名: UBF; UBF1; UBF2; UBF-1; CONDBA; NOR-90

基因 ID: 7343 | 基因类型: protein coding

关于 UBTF

Cytogenetic location: 17q21.31 Genomic coordinates (GRCh38): 17:44,205,040-44,221,304 (from NCBI)

This gene has 18 transcripts (splice variants), 202 orthologues, 20 paralogues and is associated with 3 phenotypes. Ubiquitous expression in lymph node (RPKM 22.2), thyroid (RPKM 21.0) and 25 other tissues.

功能概要

该基因编码 HMG-box DNA 结合蛋白家族的成员。编码的蛋白质在核糖体 RNA 转录中起着关键作用,作为预启动复合物的关键成分,介导 RNA 聚合酶 I 募集到 rDNA 启动子区域。编码的蛋白质也可能在染色质重塑和前 rRNA 加工中发挥重要作用,其活性受磷酸化和乙酰化的调节。已经观察到该基因编码多种亚型的可变剪接转录物变体。该基因的假基因位于 3 号、11 号和 X 号染色体的短臂以及 11 号染色体的长臂上。[RefSeq 提供,2011 年 8 月]

This gene encodes a member of the HMG-box DNA-binding protein family. The encoded protein plays a critical role in ribosomal RNA transcription as a key component of the pre-initiation complex, mediating the recruitment of RNA polymerase I to rDNA promoter regions. The encoded protein may also play important roles in chromatin remodeling and pre-rRNA processing, and its activity is regulated by both phosphorylation and acetylation. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. Pseudogenes of this gene are located on the short arm of chromosomes 3, 11 and X and the long arm of chromosome 11. [provided by RefSeq, Aug 2011]

UBTF 基因产物(3)

mRNA Protein Name
NM_001076683.2 NP_001070151.1 nucleolar transcription factor 1 isoform b
NM_001076684.3 NP_001070152.1 nucleolar transcription factor 1 isoform b
NM_014233.4 NP_055048.1 nucleolar transcription factor 1 isoform a
基因本体论
  • 分子功能
  • 生物过程
  • 细胞组分
分子功能 GO 注释 逻辑证据 参考文献 来源
enables RNA polymerase I cis-regulatory region sequence-specific DNA binding IDA
IDA: 通过直接分析推断
22368283 GOA
enables RNA polymerase I core promoter sequence-specific DNA binding IDA
IDA: 通过直接分析推断
22368283 GOA
enables RNA polymerase I general transcription initiation factor activity IDA
IDA: 通过直接分析推断
12498690 GOA
enables chromatin binding IDA
IDA: 通过直接分析推断
26089203 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
12498690 GOA
enables scaffold protein binding IPI
IPI: 通过物理相互作用推断
23203802 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
NOT involved in regulation of glucose mediated signaling pathway IDA
IDA: 通过直接分析推断
22368283 GOA
involved in transcription by RNA polymerase I IMP
IMP: 通过突变表型推断
28777933 GOA
involved in transcription initiation at RNA polymerase I promoter IDA
IDA: 通过直接分析推断
12498690 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in nucleolus IDA
IDA: 通过直接分析推断
12498690 GOA
located in nucleus IDA
IDA: 通过直接分析推断
22368283 GOA
EXP:通过实验结果推断 IDA:通过直接分析推断 IPI:通过物理相互作用推断 IMP:通过突变表型推断 IGI:通过遗传相互作用推断 IEP:通过表达模式推断

UBTF 蛋白结构

HMG_box

HMG_box: HMG (high mobility group) box (112 - 180)

HMG_box

HMG_box: HMG (high mobility group) box (197 - 263)

HMG_box_2

HMG_box_2: HMG-box domain (299 - 358)

HMG_box

HMG_box: HMG (high mobility group) box (407 - 468)

HMG_box_5

HMG_box_5: HMG (high mobility group) box 5 (479 - 563)

  • 0
  • 200
  • 400
  • 600
  • 764 a.a.
蛋白主名 其他名称

nucleolar transcription factor 1

90-kDa nucleolus organizer region autoantigen

UBTF 蛋白互作信息

分类
蛋白名称 蛋白编号 互作蛋白 互作蛋白种属 互作蛋白编号 实验方法 参考文献
种属内
UBTF P17480 SET Homo sapiens Q01105 17318177
种属内
UBTF P17480 SET Homo sapiens Q01105 17318177
种属内
UBTF P17480 RUNX2 Homo sapiens Q13950 20160071
种属内
UBTF P17480 RUNX2 Homo sapiens Q13950 17251981
种属间: 跨种属相互作用 种属内: 同种属相互作用

重组 UBTF 蛋白

目录号 产品名 蛋白编号 纯度
HY-P72282 Nucleolar transcription factor 1/UBTF Protein, Human (His-SUMO) P17480 (M1-T670) ≥95%

关联疾病

疾病名称 别名
Neurodegeneration, Childhood-Onset, With Brain Atrophy

Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder

CONDBA

Childhood-Onset Neurodegeneration With Brain Atrophy

Rare Syndromic Intellectual Disability
Warsaw Breakage Syndrome

WABS

WBRS

Retinoblastoma

RB

Trilateral Retinoblastoma

RB1

Retinoblastoma, Trilateral

Neuroblastoma Of Retina

Rb - Retinoblastoma

Eye Cancer, Retinoblastoma

Retinal Cancer

Retinal Tumor

Glioma, Retinal

Non-Hereditary Retinoblastoma

Childhood Cancer Retinoblastoma

Malignant Neoplasm Of Retina

Retinal Neoplasms

Muscle Hypertrophy

MSLHP

Hypertrophy

Hypertrophy, Muscle

Cerebrooculofacioskeletal Syndrome 4

COFS4

Cerebro-Oculo-Facio-Skeletal Syndrome 4

Cofs Syndrome

Cerebrooculofacioskeletal Syndrome, Type 4

Anemia, Congenital Dyserythropoietic, Type Ia

Congenital Dyserythropoietic Anemia Type I

Cda I

CDAN1A

Congenital Dyserythropoietic Anemia Type 1

Congenital Dyserythropoietic Anemia Type Ia

Congenital Dyserythropoietic Anemia, Type I

Anemia, Congenital Dyserythropoietic, Type I

Cda Type 1

Cda Type I

Cda Ia

Dyserythropoietic Anemia, Congenital Type 1

Anemia, Congenital Dyserythropoietic, Type 1a

Dyserythropoietic Anemia, Congenital, Type Ia

Cda, Type Ia

Congenital Dyserythropoietic Anaemia Type 1

Congenital Dyserythropoietic Anaemia Type I

Anemia, Dyserythropoietic, Congenital Type 1

Type I Congenital Dyserythropoietic Anemia

Anemia, Congenital Dyserythropoietic, 1a

Anemia, Dyserythropoietic, Congenital, Type Ia

Limited Scleroderma

Limited Cutaneous Systemic Sclerosis

Limited Systemic Sclerosis

Systemic Sclerosis Sine Scleroderma

Crest Syndrome

Limited Cutaneous Systemic Scleroderma

Scleroderma, Limited

Systemic Sclerosis, Limited

Progressive Systemic Sclerosis Sine Scleroderma

Scleroderma, Sine

Crest - [Calcinosis, Raynaud Phenomenon, Oesophageal Dysmotility, Sclerodactyly, And Telangiectasia] Syndrome

Crst - [Calcinosis, Raynaud Phenomenon, Sclerodactyly And Telangiectasia] Syndrome

Retinitis Pigmentosa 11

RP11

Retinitis Pigmentosa-11

Retinitis Pigmentosa, Type 11

Treacher Collins Syndrome 1

Treacher Collins Syndrome

Mandibulofacial Dysostosis

Treacher Collins-Franceschetti Syndrome

Tcof

Tcs

Mfd1

Franceschetti-Klein Syndrome

TCS1

Franceschetti Syndrome

Franceschetti-Zwahlen-Klein Syndrome

Zygoauromandibular Dysplasia

Treacher-Collins Syndrome

Mandibulofacial Dysostosis Without Limb Anomalies

Bilateral And Symmetric Oto-Mandibular Dysplasia

Diamond-Blackfan Anemia

Congenital Pure Red Cell Aplasia

Aase Syndrome

Erythrogenesis Imperfecta

Anemia, Diamond-Blackfan

Congenital Hypoplastic Anemia

Aase-Smith Ii Syndrome

Bds

Blackfan-Diamond Anemia

Congenital Prca

Congenital Hypoplastic Anemia, Blackfan-Diamond Type

Dba

Blackfan - Diamond Syndrome

Chronic Constitutional Pure Red Cell Anaemia

Anemia Diamond Blackfan Type

Anemia Congenital Erythroid Hypoplastic

Aregenerative Anemia Chronic Congenital

Blackfan Diamond Syndrome

Red Cell Aplasia, Pure Hereditary

Aase-Smith Syndrome Ii

Bda

Blackfan Diamond Anemia

Blackfan-Diamond Disease

Blackfan-Diamond Syndrome

Chronic Congenital Agenerative Anemia

Congenital Erythroid Hypoplastic Anemia

Congenital Hypoplastic Anemia Of Blackfan And Diamond

Congenital Pure Red Cell Anemia

Hypoplastic Congenital Anemia

Inherited Erythroblastopenia

Pure Hereditary Red Cell Aplasia

Anemia, Hypoplastic, Congenital

Anemia Hypoplastic Congenital

Fanconi Anemia

Constitutional Aplastic Anemia

Diamond-Blackfan Anemia 1

Aase Smith Syndrome 2

Congenital Red Cell Aplasia

Red Cell Aplasia Of Infants

Pure Red Cell Aplasia Of Infants

Congenital Red Cell Aplastic Anaemia

Congenital Pure Red Cell Anaemia

Congenital Erythroid Hypoplasia

Pearson Marrow-Pancreas Syndrome

Retinitis Pigmentosa

RP

Rod-Cone Dystrophy

Autosomal Recessive Retinitis Pigmentosa

Non-Syndromic Retinitis Pigmentosa

Pericentral Pigmentary Retinopathy

Pigmentary Retinopathy

Tapetoretinal Degeneration

Rcd

Retinitis Pigmentosa Autosomal Recessive

ARRP

Retinitis Pigmentosa, Autosomal Recessive

Retinitis Pigmentosa 1

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 UBTF VGNC VGNC:108188
Felis catus UBTF VGNC VGNC:108189
Canis familiaris UBTF VGNC VGNC:108184
Rattus norvegicus UBTF RGD RGD:3927
Mus musculus UBTF MGD MGI:98512
Macaca mulatta UBTF VGNC VGNC:108187
Others UBTF NCBI