UBTF (upstream binding transcription factor)

Gene Gene information from NCBI Gene database.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID 7343
Gene name Upstream binding transcription factor
Gene symbol UBTF
Synonyms (NCBI Gene)
CONDBANOR-90UBFUBF-1UBF1UBF2
Chromosome 17
Chromosome location 17q21.31
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
miRNA miRNA information provided by mirtarbase database.
816
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (816)
miRTarBase ID miRNA Experiments Reference
MIRT023670 hsa-miR-1-3p Proteomics 18668040
MIRT050121 hsa-miR-26a-5p CLASH 23622248
MIRT047647 hsa-miR-10a-5p CLASH 23622248
MIRT043779 hsa-miR-328-3p CLASH 23622248
MIRT042018 hsa-miR-484 CLASH 23622248
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
26
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (26)
GO ID Ontology Definition Evidence Reference
GO:0001164 Function RNA polymerase I core promoter sequence-specific DNA binding IBA
GO:0001164 Function RNA polymerase I core promoter sequence-specific DNA binding IDA 22368283
GO:0001165 Function RNA polymerase I cis-regulatory region sequence-specific DNA binding IDA 22368283
GO:0001181 Function RNA polymerase I general transcription initiation factor activity IBA
GO:0001181 Function RNA polymerase I general transcription initiation factor activity IDA 12498690
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
600673 12511 ENSG00000108312
Protein Protein information from UniProt database.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P17480
Protein name Nucleolar transcription factor 1 (Autoantigen NOR-90) (Upstream-binding factor 1) (UBF-1)
Protein function Recognizes the ribosomal RNA gene promoter and activates transcription mediated by RNA polymerase I (Pol I) through cooperative interactions with the transcription factor SL1/TIF-IB complex. It binds specifically to the upstream control element
PDB 1K99 , 1L8Y , 1L8Z , 2HDZ
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00505 HMG_box 112 → 180 HMG (high mobility group) box Domain
PF00505 HMG_box 196 → 264 HMG (high mobility group) box Domain
PF09011 HMG_box_2 295 → 361 HMG-box domain Domain
PF00505 HMG_box 407 → 471 HMG (high mobility group) box Domain
PF14887 HMG_box_5 479 → 563 HMG (high mobility group) box 5 Family
Sequence 
MNGEADCPTDLEMAAPKGQDRWSQEDMLTLLECMKNNLPSNDSSKFKTTESHMDWEKVAF
KDFSGDMCKLKWVEISNEVRKFRTLTELILDAQEHVKNPYKGKKLKKHPDFPKKPLTPYF
RFFMEKRAKYAKLHPEMSNLDLTKILSKKYKELPEKKKMKYIQDFQREKQEFERNLARFR
EDHPDLIQNAKKSDIPEKPKTPQQLWYTHEKKVYLKVRPDATTKEVKDSLGKQWSQLSDK
KRLKWIHKALEQRKEYEEIMRDYIQKHPELNISEEGITKSTLTKAERQLKDKFDGRPTKP
PPNSYSLYCAELMANMKDVPSTERMVLCSQQWKLLSQKEKDAYHKKCDQKKKDYEVELLR
FLESLPEEEQQRVLGEEKMLNINKKQATSPASKKPAQEGGKGGSEKPKRPVSAMFIFSEE
KRRQLQEERPELSESELTRLLARMWNDLSEKKKAKYKAREAALKAQSERKPGGEREERGK
LPESPKRAEEIWQQSVIGDYLARFKNDRVKALKAMEMTWNNMEKKEKLMWIKKAAEDQKR
YERELSEMRAPPAATNSSKKMKFQGEPKKPPMNGYQKFSQELLSNGELNHLPLKERMVEI
GSRWQRISQSQKEHYKKLAEEQQKQYKVHLDLWVKSLSPQDRAAYKEYISNKRKSMTKLR
GPNPKSSRTTLQSKSESEEDDEEDEDDEDEDEEEEDDENGDSSEDGGDSSESSSEDESED
GDENEEDDEDEDDDEDDDEDEDNESEGSSSSSSSSGDSSDSDSN
Sequence length 764
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
  Reactome
    RNA Polymerase I Promoter Opening
RNA Polymerase I Transcription Initiation
RNA Polymerase I Promoter Escape
RNA Polymerase I Transcription Termination
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
18
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Show/Hide Causal Diseases (5)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder Likely pathogenic; Pathogenic rs1555582065 RCV000505522
★★★★★
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Infantile or childhood onset neurodegenerative disease, global developmental delay, and intellectual disability Likely pathogenic; Pathogenic rs1555582065 RCV000625527
★★★★★
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Rare syndromic intellectual disability Likely pathogenic; Pathogenic rs1555582065 RCV001195293
★★★★★
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
UBTF E210K Neuroregression Syndrome Likely pathogenic; Pathogenic rs1555582065 RCV000504592
★★★★★
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Show/Hide Unknown Diseases (13)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
Acute myeloid leukemia Benign ClinVar
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Cervical cancer Benign ClinVar
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Colon adenocarcinoma Likely benign ClinVar
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Gastric cancer Benign ClinVar
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Show/Hide Text Mining Associations (46)
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Alopecia Alopecia BEFREE 26866305
★★★★★
★☆☆☆☆
Found in Text Mining only
Alzheimer Disease Alzheimer disease Pubtator 26512942 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Atrophy Atrophy Pubtator 29300972 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Autism Spectrum Disorder Autism Pubtator 37414777 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Autistic behavior Autism CLINVAR_DG
★★★★★
★☆☆☆☆
Found in Text Mining only
Autoimmune Diseases Autoimmune Diseases BEFREE 8702439
★★★★★
★☆☆☆☆
Found in Text Mining only
Carcinoma of lung Lung carcinoma BEFREE 30250529
★★★★★
★☆☆☆☆
Found in Text Mining only
Cerebellar atrophy Cerebellar atrophy HPO_DG
★★★★★
★☆☆☆☆
Found in Text Mining only
Cerebral cortical atrophy Cerebral cortical atrophy HPO_DG
★★★★★
★☆☆☆☆
Found in Text Mining only
Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder Orphanet
★★★★★
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)