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UBTF (upstream binding transcription factor)
Gene
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
7343
Gene nameGene Name - the full gene name approved by the HGNC.
Upstream binding transcription factor
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
UBTF
SynonymsGene synonyms aliases
CONDBA, NOR-90, UBF, UBF-1, UBF1, UBF2
ChromosomeChromosome number
17
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
17q21.31
SummarySummary of gene provided in NCBI Entrez Gene.
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
miRNAmiRNA information provided by mirtarbase database.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
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 information of associated ontologies with gene provided by GO database.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
GO ID Ontology Definition Evidence Reference
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 IDA 12498690
GO:0001188 Process RNA polymerase I preinitiation complex assembly IEA
GO:0001650 Component Fibrillar center IDA
Other IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM
HGNC
e!Ensembl
Protein
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID 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
PathwaysPathway information has different metabolic/signaling pathways associated with genes. Each record is hyperlinked to a complete information page which also includes links to the KEGG/Reactome pathway database.
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
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Causal
Disease name Disease term dbSNP ID References
Autism Autistic behavior rs121964908, rs121912597, rs2710102, rs7794745, rs142990298, rs62643608, rs181327458, rs797046134, rs869312704, rs1555013332, rs876657679, rs1057518999, rs1057518658, rs771827120, rs1555187899, rs773080572, rs753871454, rs1684130791, rs1684180699, rs1553510219, rs1684182454, rs1559060428, rs1553510677, rs1576352885, rs1574152522, rs1574152672, rs1696658542, rs1751123722, rs1750373491, rs1751075634
Developmental delay Global developmental delay rs28941770, rs199469464, rs281865469, rs143747297, rs398123009, rs587777428, rs786205133, rs606231459, rs797044854, rs797045027, rs864309504, rs878853160, rs886039902, rs886042046, rs886041291, rs886041382, rs1057518991, rs1057518699, rs753254213, rs748294403, rs762552974, rs1135401795, rs1553121073, rs1553122926, rs1364690005, rs1554086554, rs1554210415, rs1554168326, rs1554776342, rs1553873247, rs1567860112, rs779009256, rs1557447255, rs1564568350, rs780011005, rs1597464953, rs1200336864, rs1569513017, rs1587459606, rs1570332505, rs748888652, rs1575155995, rs2087029320, rs1589669105, rs1601769604, rs1184981709, rs749201074 29300972, 28777933
Developmental regression Developmental regression rs1224421127 28777933
Motor and cognitive regression syndrome with extrapyramidal movement disorder Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder rs1555582065
Unknown
Disease name Disease term dbSNP ID References
Cerebellar atrophy Cerebellar atrophy
Cerebral cortical atrophy Cerebral cortical atrophy
Dysphagia Deglutition Disorders
Dysphasia Dysphasia

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