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Protein

Nucleolar transcription factor 1

Gene

UBTF

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

Recognizes the ribosomal RNA gene promoter and activates transcription mediated by RNA polymerase I through cooperative interactions with the transcription factor SL1/TIF-IB complex. It binds specifically to the upstream control element.2 Publications

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
DNA bindingi112 – 180HMG box 1PROSITE-ProRule annotationAdd BLAST69
DNA bindingi196 – 264HMG box 2PROSITE-ProRule annotationAdd BLAST69
DNA bindingi298 – 362HMG box 3PROSITE-ProRule annotationAdd BLAST65
DNA bindingi407 – 475HMG box 4PROSITE-ProRule annotationAdd BLAST69
DNA bindingi482 – 549HMG box 5PROSITE-ProRule annotationAdd BLAST68
DNA bindingi568 – 634HMG box 6PROSITE-ProRule annotationAdd BLAST67

GO - Molecular functioni

GO - Biological processi

Keywordsi

Molecular functionActivator, DNA-binding
Biological processTranscription, Transcription regulation

Enzyme and pathway databases

ReactomeiR-HSA-427413 NoRC negatively regulates rRNA expression
R-HSA-73728 RNA Polymerase I Promoter Opening
R-HSA-73762 RNA Polymerase I Transcription Initiation
R-HSA-73772 RNA Polymerase I Promoter Escape
R-HSA-73777 RNA Polymerase I Chain Elongation
R-HSA-73863 RNA Polymerase I Transcription Termination
SIGNORiP17480

Names & Taxonomyi

Protein namesi
Recommended name:
Nucleolar transcription factor 1
Alternative name(s):
Autoantigen NOR-90
Upstream-binding factor 1
Short name:
UBF-1
Gene namesi
Name:UBTF
Synonyms:UBF, UBF1
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 17

Organism-specific databases

EuPathDBiHostDB:ENSG00000108312.14
HGNCiHGNC:12511 UBTF
MIMi600673 gene
neXtProtiNX_P17480

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Nucleus

Pathology & Biotechi

Involvement in diseasei

Neurodegeneration, childhood-onset, with brain atrophy (CONDBA)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn autosomal dominant neurodegenerative disease with onset in childhood, characterized by progressive cortical atrophy, developmental delay, developmental regression, loss of motor skills and ambulation, absence of language, and intellectual disability.
See also OMIM:617672
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_080139210E → K in CONDBA; increased RNA polymerase I core element sequence-specific DNA binding; increased transcription from RNA polymerase I promoter. 1 Publication1

Keywords - Diseasei

Disease mutation, Mental retardation, Neurodegeneration

Organism-specific databases

DisGeNETi7343
MalaCardsiUBTF
MIMi617672 phenotype
OpenTargetsiENSG00000108312
Orphaneti500180 Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder
PharmGKBiPA37158

Polymorphism and mutation databases

BioMutaiUBTF
DMDMi136652

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000486251 – 764Nucleolar transcription factor 1Add BLAST764

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei1N-acetylmethionineCombined sources1
Modified residuei201PhosphothreonineCombined sources1
Modified residuei273PhosphoserineCombined sources1
Modified residuei336PhosphoserineBy similarity1
Modified residuei364PhosphoserineCombined sources1
Modified residuei389PhosphoserineBy similarity1
Modified residuei412PhosphoserineCombined sources1
Modified residuei433PhosphoserineBy similarity1
Modified residuei435PhosphoserineCombined sources1
Modified residuei484PhosphoserineCombined sources1
Modified residuei495PhosphoserineCombined sources1
Modified residuei546PhosphoserineBy similarity1
Modified residuei584PhosphoserineBy similarity1
Modified residuei638PhosphoserineCombined sources1

Post-translational modificationi

Phosphorylated and activated by PIK3CA.By similarity

Keywords - PTMi

Acetylation, Phosphoprotein

Proteomic databases

EPDiP17480
MaxQBiP17480
PaxDbiP17480
PeptideAtlasiP17480
PRIDEiP17480
ProteomicsDBi53473
53474 [P17480-2]

PTM databases

iPTMnetiP17480
PhosphoSitePlusiP17480
SwissPalmiP17480

Expressioni

Gene expression databases

BgeeiENSG00000108312 Expressed in 211 organ(s), highest expression level in frontal cortex
CleanExiHS_UBTF
ExpressionAtlasiP17480 baseline and differential
GenevisibleiP17480 HS

Organism-specific databases

HPAiCAB004611
HPA006385

Interactioni

Subunit structurei

Homodimer (By similarity). Interacts with TBP (PubMed:7982918). Interacts with TAF1A (PubMed:7491500). Interacts with RASL11A (By similarity). Binds to IRS1 and PIK3CA (By similarity). Interacts with DHX33 (PubMed:21930779). Interacts with PHF6 (PubMed:23229552). Interacts with CEBPA (isoform 1 and isoform 4) (PubMed:20075868). Interacts with DDX11 (PubMed:26089203). Interacts with NOP53 (PubMed:27729611).By similarity7 Publications

Binary interactionsi

GO - Molecular functioni

Protein-protein interaction databases

BioGridi113190, 94 interactors
DIPiDIP-640N
IntActiP17480, 27 interactors
MINTiP17480
STRINGi9606.ENSP00000302640

Structurei

Secondary structure

1764
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

ProteinModelPortaliP17480
SMRiP17480
ModBaseiSearch...
MobiDBiSearch...

Miscellaneous databases

EvolutionaryTraceiP17480

Family & Domainsi

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi675 – 764Asp/Glu/Ser-rich (acidic)Add BLAST90

Keywords - Domaini

Repeat

Phylogenomic databases

eggNOGiKOG0381 Eukaryota
COG5648 LUCA
GeneTreeiENSGT00530000063934
HOGENOMiHOG000232068
HOVERGENiHBG008708
InParanoidiP17480
KOiK09273
OMAiKEKIMWI
OrthoDBiEOG091G0GL0
PhylomeDBiP17480
TreeFamiTF328989

Family and domain databases

Gene3Di1.10.30.10, 6 hits
InterProiView protein in InterPro
IPR029215 HMG_box_5
IPR009071 HMG_box_dom
IPR036910 HMG_box_dom_sf
PfamiView protein in Pfam
PF00505 HMG_box, 3 hits
PF09011 HMG_box_2, 1 hit
PF14887 HMG_box_5, 1 hit
SMARTiView protein in SMART
SM00398 HMG, 6 hits
SUPFAMiSSF47095 SSF47095, 6 hits
PROSITEiView protein in PROSITE
PS50118 HMG_BOX_2, 6 hits

Sequences (2+)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 2 described isoforms and 4 potential isoforms that are computationally mapped.Show allAlign All

Isoform UBF1 (identifier: P17480-1) [UniParc]FASTAAdd to basket
Also known as: Long

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide
        10         20         30         40         50
MNGEADCPTD LEMAAPKGQD RWSQEDMLTL LECMKNNLPS NDSSKFKTTE
60 70 80 90 100
SHMDWEKVAF KDFSGDMCKL KWVEISNEVR KFRTLTELIL DAQEHVKNPY
110 120 130 140 150
KGKKLKKHPD FPKKPLTPYF RFFMEKRAKY AKLHPEMSNL DLTKILSKKY
160 170 180 190 200
KELPEKKKMK YIQDFQREKQ EFERNLARFR EDHPDLIQNA KKSDIPEKPK
210 220 230 240 250
TPQQLWYTHE KKVYLKVRPD ATTKEVKDSL GKQWSQLSDK KRLKWIHKAL
260 270 280 290 300
EQRKEYEEIM RDYIQKHPEL NISEEGITKS TLTKAERQLK DKFDGRPTKP
310 320 330 340 350
PPNSYSLYCA ELMANMKDVP STERMVLCSQ QWKLLSQKEK DAYHKKCDQK
360 370 380 390 400
KKDYEVELLR FLESLPEEEQ QRVLGEEKML NINKKQATSP ASKKPAQEGG
410 420 430 440 450
KGGSEKPKRP VSAMFIFSEE KRRQLQEERP ELSESELTRL LARMWNDLSE
460 470 480 490 500
KKKAKYKARE AALKAQSERK PGGEREERGK LPESPKRAEE IWQQSVIGDY
510 520 530 540 550
LARFKNDRVK ALKAMEMTWN NMEKKEKLMW IKKAAEDQKR YERELSEMRA
560 570 580 590 600
PPAATNSSKK MKFQGEPKKP PMNGYQKFSQ ELLSNGELNH LPLKERMVEI
610 620 630 640 650
GSRWQRISQS QKEHYKKLAE EQQKQYKVHL DLWVKSLSPQ DRAAYKEYIS
660 670 680 690 700
NKRKSMTKLR GPNPKSSRTT LQSKSESEED DEEDEDDEDE DEEEEDDENG
710 720 730 740 750
DSSEDGGDSS ESSSEDESED GDENEEDDED EDDDEDDDED EDNESEGSSS
760
SSSSSGDSSD SDSN
Length:764
Mass (Da):89,406
Last modified:August 1, 1990 - v1
Checksum:iD4F0F8BB180E757D
GO
Isoform UBF2 (identifier: P17480-2) [UniParc]FASTAAdd to basket
Also known as: Short

The sequence of this isoform differs from the canonical sequence as follows:
     221-257: Missing.

Show »
Length:727
Mass (Da):84,937
Checksum:i9E5ECB321567DB64
GO

Computationally mapped potential isoform sequencesi

There are 4 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
E9PKP7E9PKP7_HUMAN
Nucleolar transcription factor 1
UBTF
745Annotation score:
E9PLT2E9PLT2_HUMAN
Nucleolar transcription factor 1
UBTF
194Annotation score:
E9PMM2E9PMM2_HUMAN
Nucleolar transcription factor 1
UBTF
149Annotation score:
H0YDH7H0YDH7_HUMAN
Nucleolar transcription factor 1
UBTF
36Annotation score:

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_080139210E → K in CONDBA; increased RNA polymerase I core element sequence-specific DNA binding; increased transcription from RNA polymerase I promoter. 1 Publication1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_002193221 – 257Missing in isoform UBF2. 2 PublicationsAdd BLAST37

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
X53390 mRNA Translation: CAA37469.1
X53461 mRNA Translation: CAA37548.1
X56687 mRNA Translation: CAA40016.1
AK291733 mRNA Translation: BAF84422.1
AK292518 mRNA Translation: BAF85207.1
BC042297 mRNA Translation: AAH42297.1
CCDSiCCDS11480.1 [P17480-1]
CCDS42346.1 [P17480-2]
PIRiS09318
S18193
RefSeqiNP_001070151.1, NM_001076683.1 [P17480-2]
NP_001070152.1, NM_001076684.2 [P17480-2]
NP_055048.1, NM_014233.3 [P17480-1]
XP_006722122.1, XM_006722059.3 [P17480-1]
XP_006722123.1, XM_006722060.2 [P17480-1]
XP_006722124.1, XM_006722061.2 [P17480-1]
XP_016880492.1, XM_017025003.1 [P17480-2]
XP_016880493.1, XM_017025004.1 [P17480-2]
UniGeneiHs.89781

Genome annotation databases

EnsembliENST00000302904; ENSP00000302640; ENSG00000108312 [P17480-1]
ENST00000343638; ENSP00000345297; ENSG00000108312 [P17480-2]
ENST00000393606; ENSP00000377231; ENSG00000108312 [P17480-2]
ENST00000436088; ENSP00000390669; ENSG00000108312 [P17480-1]
ENST00000526094; ENSP00000432925; ENSG00000108312 [P17480-2]
ENST00000529383; ENSP00000435708; ENSG00000108312 [P17480-1]
ENST00000533177; ENSP00000437180; ENSG00000108312 [P17480-2]
GeneIDi7343
KEGGihsa:7343
UCSCiuc002igc.4 human [P17480-1]

Keywords - Coding sequence diversityi

Alternative splicing

Similar proteinsi

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
X53390 mRNA Translation: CAA37469.1
X53461 mRNA Translation: CAA37548.1
X56687 mRNA Translation: CAA40016.1
AK291733 mRNA Translation: BAF84422.1
AK292518 mRNA Translation: BAF85207.1
BC042297 mRNA Translation: AAH42297.1
CCDSiCCDS11480.1 [P17480-1]
CCDS42346.1 [P17480-2]
PIRiS09318
S18193
RefSeqiNP_001070151.1, NM_001076683.1 [P17480-2]
NP_001070152.1, NM_001076684.2 [P17480-2]
NP_055048.1, NM_014233.3 [P17480-1]
XP_006722122.1, XM_006722059.3 [P17480-1]
XP_006722123.1, XM_006722060.2 [P17480-1]
XP_006722124.1, XM_006722061.2 [P17480-1]
XP_016880492.1, XM_017025003.1 [P17480-2]
XP_016880493.1, XM_017025004.1 [P17480-2]
UniGeneiHs.89781

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
1K99NMR-A103-192[»]
1L8YNMR-A479-560[»]
1L8ZNMR-A479-560[»]
2HDZX-ray2.00A479-560[»]
ProteinModelPortaliP17480
SMRiP17480
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi113190, 94 interactors
DIPiDIP-640N
IntActiP17480, 27 interactors
MINTiP17480
STRINGi9606.ENSP00000302640

PTM databases

iPTMnetiP17480
PhosphoSitePlusiP17480
SwissPalmiP17480

Polymorphism and mutation databases

BioMutaiUBTF
DMDMi136652

Proteomic databases

EPDiP17480
MaxQBiP17480
PaxDbiP17480
PeptideAtlasiP17480
PRIDEiP17480
ProteomicsDBi53473
53474 [P17480-2]

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000302904; ENSP00000302640; ENSG00000108312 [P17480-1]
ENST00000343638; ENSP00000345297; ENSG00000108312 [P17480-2]
ENST00000393606; ENSP00000377231; ENSG00000108312 [P17480-2]
ENST00000436088; ENSP00000390669; ENSG00000108312 [P17480-1]
ENST00000526094; ENSP00000432925; ENSG00000108312 [P17480-2]
ENST00000529383; ENSP00000435708; ENSG00000108312 [P17480-1]
ENST00000533177; ENSP00000437180; ENSG00000108312 [P17480-2]
GeneIDi7343
KEGGihsa:7343
UCSCiuc002igc.4 human [P17480-1]

Organism-specific databases

CTDi7343
DisGeNETi7343
EuPathDBiHostDB:ENSG00000108312.14
GeneCardsiUBTF
HGNCiHGNC:12511 UBTF
HPAiCAB004611
HPA006385
MalaCardsiUBTF
MIMi600673 gene
617672 phenotype
neXtProtiNX_P17480
OpenTargetsiENSG00000108312
Orphaneti500180 Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder
PharmGKBiPA37158
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG0381 Eukaryota
COG5648 LUCA
GeneTreeiENSGT00530000063934
HOGENOMiHOG000232068
HOVERGENiHBG008708
InParanoidiP17480
KOiK09273
OMAiKEKIMWI
OrthoDBiEOG091G0GL0
PhylomeDBiP17480
TreeFamiTF328989

Enzyme and pathway databases

ReactomeiR-HSA-427413 NoRC negatively regulates rRNA expression
R-HSA-73728 RNA Polymerase I Promoter Opening
R-HSA-73762 RNA Polymerase I Transcription Initiation
R-HSA-73772 RNA Polymerase I Promoter Escape
R-HSA-73777 RNA Polymerase I Chain Elongation
R-HSA-73863 RNA Polymerase I Transcription Termination
SIGNORiP17480

Miscellaneous databases

ChiTaRSiUBTF human
EvolutionaryTraceiP17480
GeneWikiiUBTF
GenomeRNAii7343
PROiPR:P17480
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000108312 Expressed in 211 organ(s), highest expression level in frontal cortex
CleanExiHS_UBTF
ExpressionAtlasiP17480 baseline and differential
GenevisibleiP17480 HS

Family and domain databases

Gene3Di1.10.30.10, 6 hits
InterProiView protein in InterPro
IPR029215 HMG_box_5
IPR009071 HMG_box_dom
IPR036910 HMG_box_dom_sf
PfamiView protein in Pfam
PF00505 HMG_box, 3 hits
PF09011 HMG_box_2, 1 hit
PF14887 HMG_box_5, 1 hit
SMARTiView protein in SMART
SM00398 HMG, 6 hits
SUPFAMiSSF47095 SSF47095, 6 hits
PROSITEiView protein in PROSITE
PS50118 HMG_BOX_2, 6 hits
ProtoNetiSearch...

Entry informationi

Entry nameiUBF1_HUMAN
AccessioniPrimary (citable) accession number: P17480
Secondary accession number(s): A8K6R8
Entry historyiIntegrated into UniProtKB/Swiss-Prot: August 1, 1990
Last sequence update: August 1, 1990
Last modified: November 7, 2018
This is version 203 of the entry and version 1 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

3D-structure, Complete proteome, Reference proteome

Documents

  1. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  2. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  3. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  4. Human chromosome 17
    Human chromosome 17: entries, gene names and cross-references to MIM
  5. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
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Main funding by: National Institutes of Health

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