UBTF - upstream binding transcription factor Gene

Also Known as UBF; UBF1; UBF2; UBF-1; CONDBA; NOR-90

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 7343

About 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.

Summary

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 Products (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

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Verweise	Source
enables RNA polymerase I cis-regulatory region sequence-specific DNA binding	IDA IDA: Inferred from direct assay	22368283	GOA
enables RNA polymerase I core promoter sequence-specific DNA binding	IDA IDA: Inferred from direct assay	22368283	GOA
enables RNA polymerase I general transcription initiation factor activity	IDA IDA: Inferred from direct assay	12498690	GOA
enables chromatin binding	IDA IDA: Inferred from direct assay	26089203	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	12498690	GOA
enables scaffold protein binding	IPI IPI: Inferred from physical interaction	23203802	GOA

Biological Process GO Annotation	Evidence	Verweise	Source
NOT involved in regulation of glucose mediated signaling pathway	IDA IDA: Inferred from direct assay	22368283	GOA
involved in transcription by RNA polymerase I	IMP IMP: Inferred from mutant phenotype	28777933	GOA
involved in transcription initiation at RNA polymerase I promoter	IDA IDA: Inferred from direct assay	12498690	GOA

Cellular Component GO Annotation	Evidence	Verweise	Source
located in nucleolus	IDA IDA: Inferred from direct assay	12498690	GOA
located in nucleus	IDA IDA: Inferred from direct assay	22368283	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

UBTF Protein Structure

HMG_box

HMG_box_2

HMG_box

HMG_box_5

0
200
400
600
764 a.a.

Protein Preferred Names	Protein Names
nucleolar transcription factor 1	90-kDa nucleolus organizer region autoantigen

UBTF Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Verweise
Intra	UBTF	P17480	SET	Homo sapiens	Q01105	Pull Down	17318177
Intra	UBTF	P17480	SET	Homo sapiens	Q01105	Anti Tag CoIP	17318177
Intra	UBTF	P17480	RUNX2	Homo sapiens	Q13950	Anti Bait CoIP	20160071
Intra	UBTF	P17480	RUNX2	Homo sapiens	Q13950	Anti Bait CoIP	17251981

Cross: Cross-species interaction Intra: Intraspecies interaction

Recombinant UBTF Proteins

Art. -Nr.	Produktname	Accession	Reinheit
HY-P72282	Nucleolar transcription factor 1/UBTF Protein, Human (His-SUMO)	P17480 (M1-T670)	≥ 90%, as determined by reducing SDS-PAGE.

UBTF Antibodies

Art. -Nr.	Produktname	Anwendung	Reactivity
HY-P87040	Phospho-UBF1 (S484) Antibody (YA6733)	WB, IHC-P	Human, Mouse, Rat

Related Diseases

Diseases	Alias
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

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 (3)

Art. -Nr.	Produktname	Wirkung	Reinheit	Rare Diseases
HY-RS15393	UBTF Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS19167	Ubtf Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS25656	Ubtf Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	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