Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
7343
Gene name Gene Name - the full gene name approved by the HGNC.
Upstream binding transcription factor
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
UBTF
Synonyms (NCBI Gene) Gene synonyms aliases
CONDBA, NOR-90, UBF, UBF-1, UBF1, UBF2
Disease Acronyms (UniProt) Disease acronyms from UniProt database
CONDBA
Chromosome Chromosome number
17
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
17q21.31
Summary Summary 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
miRNA miRNA information provided by mirtarbase database.
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.
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 IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
600673 12511 ENSG00000108312
Protein
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
KRLKWIHKALEQRKEYEEIMRDYI
QKHPELNISEEGITKSTLTKAERQLKDKFDGRPTKP
PPNSYSLYCAELMANMKDVPSTERMVLCSQQWKLLSQKEKDAYHKKCDQKKKDYEVELLR
F
LESLPEEEQQRVLGEEKMLNINKKQATSPASKKPAQEGGKGGSEKPKRPVSAMFIFSEE
KRRQLQEERPELSESELTRLLARMWNDLSEKKKAKYKAREAALKAQSERKP
GGEREERGK
LPESPKRAEEIWQQSVIGDYLARFKNDRVKALKAMEMTWNNMEKKEKLMWIKKAAEDQKR
YERELSEMRAPPAATNSSKKMKF
QGEPKKPPMNGYQKFSQELLSNGELNHLPLKERMVEI
GSRWQRISQSQKEHYKKLAEEQQKQYKVHLDLWVKSLSPQDRAAYKEYISNKRKSMTKLR
GPNPKSSRTTLQSKSESEEDDEEDEDDEDEDEEEEDDENGDSSEDGGDSSESSSEDESED
GDENEEDDEDEDDDEDDDEDEDNESEGSSSSSSSSGDSSDSDSN
Sequence length 764
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  Reactome
    RNA Polymerase I Promoter Opening
RNA Polymerase I Transcription Initiation
RNA Polymerase I Promoter Escape
RNA Polymerase I Transcription Termination
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Autism Autistic behavior rs121964908, rs62643608, rs181327458, rs797046134, rs869312704, rs1555013332, rs876657679, rs1057518999, rs1057518658, rs771827120, rs1555187899, rs773080572, rs753871454, rs1684130791, rs1684180699
View all (8 more)
Developmental delay Global developmental delay rs28941770, rs199469464, rs281865469, rs143747297, rs398123009, rs587777428, rs786205133, rs606231459, rs797044854, rs797045027, rs864309504, rs878853160, rs886039902, rs886042046, rs886041291
View all (32 more)
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
Associations from Text Mining
Disease Name Relationship Type References
Alzheimer Disease Associate 26512942
Atrophy Associate 29300972
Autism Spectrum Disorder Associate 37414777
Calcinosis Cutis Associate 33986121
Carcinoma Non Small Cell Lung Associate 32350115
Chromosome 8 trisomy Associate 37236968
Cockayne Syndrome Associate 35802638
Cognition Disorders Associate 29300972
Colorectal Neoplasms Associate 28692053
Demyelinating Diseases Associate 36106513