ENSG00000108312


Homo sapiens

Features
Gene ID: ENSG00000108312
  
Biological name :UBTF
  
Synonyms : P17480 / UBTF / upstream binding transcription factor, RNA polymerase I
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 17
Strand: -1
Band: q21.31
Gene start: 44205033
Gene end: 44221626
  
Corresponding Affymetrix probe sets: 1558215_s_at (Human Genome U133 Plus 2.0 Array)   202692_s_at (Human Genome U133 Plus 2.0 Array)   214881_s_at (Human Genome U133 Plus 2.0 Array)   225982_at (Human Genome U133 Plus 2.0 Array)   239920_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000433046
Ensembl peptide - ENSP00000432925
Ensembl peptide - ENSP00000433625
Ensembl peptide - ENSP00000437180
Ensembl peptide - ENSP00000435708
Ensembl peptide - ENSP00000302640
Ensembl peptide - ENSP00000345297
Ensembl peptide - ENSP00000377231
Ensembl peptide - ENSP00000390669
Ensembl peptide - ENSP00000431295
Ensembl peptide - ENSP00000431539
NCBI entrez gene - 7343     See in Manteia.
OMIM - 600673
RefSeq - XM_017025004
RefSeq - XM_017024996
RefSeq - XM_017024997
RefSeq - XM_017024998
RefSeq - XM_017024999
RefSeq - XM_017025000
RefSeq - XM_017025001
RefSeq - XM_017025002
RefSeq - XM_017025003
RefSeq - NM_001076683
RefSeq - NM_001076684
RefSeq - NM_014233
RefSeq - XM_006722059
RefSeq - XM_006722060
RefSeq - XM_006722061
RefSeq - XM_017024995
RefSeq Peptide - NP_055048
RefSeq Peptide - NP_001070151
RefSeq Peptide - NP_001070152
swissprot - E9PMM2
swissprot - E9PKP7
swissprot - P17480
swissprot - E9PLT2
swissprot - H0YDH7
Ensembl - ENSG00000108312
  
Related genetic diseases (OMIM): 617672 - Neurodegeneration, childhood-onset, with brain atrophy, 617672

This gene has been taged as a transcription factor by TFT
See expression report in BioGPS
See gene description in Wikigenes
See gene description in GeneCards
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 ubtfENSDARG00000035066Danio rerio
 UbtfENSMUSG00000020923Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
P0CB47 / UBTFL1 / upstream binding transcription factor, RNA polymerase I-like 1ENSG0000025500926


Protein motifs (from Interpro)
Interpro ID Name
 IPR009071  High mobility group box domain
 IPR029215  High mobility group box domain 5
 IPR036910  High mobility group box domain superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0001188 RNA polymerase I transcriptional preinitiation complex assembly IEA
 biological_processGO:0006351 transcription, DNA-templated IEA
 biological_processGO:0006355 regulation of transcription, DNA-templated IEA
 biological_processGO:0006356 regulation of transcription by RNA polymerase I NAS
 biological_processGO:0006357 regulation of transcription by RNA polymerase II IEA
 biological_processGO:0006360 transcription by RNA polymerase I IMP
 biological_processGO:0006361 transcription initiation from RNA polymerase I promoter TAS
 biological_processGO:0006362 transcription elongation from RNA polymerase I promoter TAS
 biological_processGO:0006363 termination of RNA polymerase I transcription TAS
 biological_processGO:0045943 positive regulation of transcription by RNA polymerase I ISS
 cellular_componentGO:0001650 fibrillar center IDA
 cellular_componentGO:0005634 nucleus IEA
 cellular_componentGO:0005654 nucleoplasm TAS
 cellular_componentGO:0005730 nucleolus ISS
 molecular_functionGO:0000981 RNA polymerase II transcription factor activity, sequence-specific DNA binding NAS
 molecular_functionGO:0001164 RNA polymerase I CORE element sequence-specific DNA binding IDA
 molecular_functionGO:0001165 RNA polymerase I upstream control element sequence-specific DNA binding IDA
 molecular_functionGO:0003677 DNA binding IEA
 molecular_functionGO:0003682 chromatin binding IDA
 molecular_functionGO:0003723 RNA binding HDA
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0097110 scaffold protein binding IPI


Pathways (from Reactome)
Pathway description
NoRC negatively regulates rRNA expression
RNA Polymerase I Promoter Opening
RNA Polymerase I Transcription Initiation
RNA Polymerase I Promoter Escape
RNA Polymerase I Chain Elongation
RNA Polymerase I Transcription Termination


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
No match
  


Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSG00000085721 RRN3 / Q9NYV6 / RRN3 homolog, RNA polymerase I transcription factor  / reaction / complex
 ENSG00000102882 MAPK3 / P27361 / mitogen-activated protein kinase 3  / reaction
 ENSG00000125482 TTF1 / Q15361 / transcription termination factor 1  / complex / reaction
 ENSG00000177469 CAVIN1 / Q6NZI2 / caveolae associated protein 1  / reaction / complex






 

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