UBTF - upstream binding transcription factor Gene

Homo sapiens

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

Gene ID: 7343 | Gene type: protein coding

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

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

Recombinant UBTF Proteins

Cat. No.	Product Name	Accession	Purity
HY-P72282	Nucleolar transcription factor 1/UBTF Protein, Human (His-SUMO)	P17480 (M1-T670)	≥95%

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

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS15393	UBTF Human Pre-designed siRNA Set A		/	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