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Entry version 206 (13 Feb 2019)
Sequence version 1 (01 Aug 1990)
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Protein

Nucleolar transcription factor 1

Gene

UBTF

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the ‘protein existence’ evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>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
<p>This subsection of the ‘Function’ section specifies the position and type of each DNA-binding domain present within the protein.<p><a href='/help/dna_bind' target='_top'>More...</a></p>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

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

GO - Biological processi

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

Molecular functionActivator, DNA-binding
Biological processTranscription, Transcription regulation

Enzyme and pathway databases

Reactome - a knowledgebase of biological pathways and processes

More...
Reactomei
R-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

SIGNOR Signaling Network Open Resource

More...
SIGNORi
P17480

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
Nucleolar transcription factor 1
Alternative name(s):
Autoantigen NOR-90
Upstream-binding factor 1
Short name:
UBF-1
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: ‘Name’, ‘Synonyms’, ‘Ordered locus names’ and ‘ORF names’.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:UBTF
Synonyms:UBF, UBF1
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the ‘taxonomic identifier’ or ‘taxid’.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes_manual">proteome</a> can consist of several components. <br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 17

Organism-specific databases

Eukaryotic Pathogen Database Resources

More...
EuPathDBi
HostDB:ENSG00000108312.14

Human Gene Nomenclature Database

More...
HGNCi
HGNC:12511 UBTF

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
600673 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_P17480

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>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 & Seán O’Donoghue; Source: COMPARTMENTS

Keywords - Cellular componenti

Nucleus

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the ‘Pathology and Biotech’ section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>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
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>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

DisGeNET

More...
DisGeNETi
7343

MalaCards human disease database

More...
MalaCardsi
UBTF
MIMi617672 phenotype

Open Targets

More...
OpenTargetsi
ENSG00000108312

Orphanet; a database dedicated to information on rare diseases and orphan drugs

More...
Orphaneti
500180 Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA37158

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
UBTF

Domain mapping of disease mutations (DMDM)

More...
DMDMi
136652

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section describes the extent of a polypeptide chain in the mature protein following processing.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00000486251 – 764Nucleolar transcription factor 1Add BLAST764

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>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

<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM/processing</a> section describes post-translational modifications (PTMs). This subsection <strong>complements</strong> the information provided at the sequence level or describes modifications for which <strong>position-specific data is not yet available</strong>.<p><a href='/help/post-translational_modification' target='_top'>More...</a></p>Post-translational modificationi

Phosphorylated and activated by PIK3CA.By similarity

Keywords - PTMi

Acetylation, Phosphoprotein

Proteomic databases

Encyclopedia of Proteome Dynamics

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EPDi
P17480

jPOST - Japan Proteome Standard Repository/Database

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jPOSTi
P17480

MaxQB - The MaxQuant DataBase

More...
MaxQBi
P17480

PaxDb, a database of protein abundance averages across all three domains of life

More...
PaxDbi
P17480

PeptideAtlas

More...
PeptideAtlasi
P17480

PRoteomics IDEntifications database

More...
PRIDEi
P17480

ProteomicsDB human proteome resource

More...
ProteomicsDBi
53473
53474 [P17480-2]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
P17480

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

More...
PhosphoSitePlusi
P17480

SwissPalm database of S-palmitoylation events

More...
SwissPalmi
P17480

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000108312 Expressed in 211 organ(s), highest expression level in frontal cortex

ExpressionAtlas, Differential and Baseline Expression

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ExpressionAtlasi
P17480 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...
Genevisiblei
P17480 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
CAB004611
HPA006385

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction_section">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function_section">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>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

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction_section%27">Interaction</a> section provides information about binary protein-protein interactions. The data presented in this section are a quality-filtered subset of binary interactions automatically derived from the <a href="http://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated on a monthly basis. Each binary interaction is displayed on a separate line.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

GO - Molecular functioni

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

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BioGridi
113190, 96 interactors

Database of interacting proteins

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DIPi
DIP-640N

Protein interaction database and analysis system

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IntActi
P17480, 29 interactors

Molecular INTeraction database

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MINTi
P17480

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000302640

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

Secondary structure

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

3D structure databases

Select the link destinations:

Protein Data Bank Europe

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PDBei

Protein Data Bank RCSB

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RCSB PDBi

Protein Data Bank Japan

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PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
1K99NMR-A103-192[»]
1L8YNMR-A479-560[»]
1L8ZNMR-A479-560[»]
2HDZX-ray2.00A479-560[»]

Protein Model Portal of the PSI-Nature Structural Biology Knowledgebase

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ProteinModelPortali
P17480

SWISS-MODEL Repository - a database of annotated 3D protein structure models

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SMRi
P17480

Database of comparative protein structure models

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ModBasei
Search...

MobiDB: a database of protein disorder and mobility annotations

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MobiDBi
Search...

Miscellaneous databases

Relative evolutionary importance of amino acids within a protein sequence

More...
EvolutionaryTracei
P17480

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and Domains’ section describes the position of regions of compositional bias within the protein and the particular amino acids that are over-represented within those regions.<p><a href='/help/compbias' target='_top'>More...</a></p>Compositional biasi675 – 764Asp/Glu/Ser-rich (acidic)Add BLAST90

Keywords - Domaini

Repeat

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

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eggNOGi
KOG0381 Eukaryota
COG5648 LUCA

Ensembl GeneTree

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GeneTreei
ENSGT00940000161141

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...
HOGENOMi
HOG000232068

The HOVERGEN Database of Homologous Vertebrate Genes

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HOVERGENi
HBG008708

InParanoid: Eukaryotic Ortholog Groups

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InParanoidi
P17480

KEGG Orthology (KO)

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KOi
K09273

Identification of Orthologs from Complete Genome Data

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OMAi
KEKIMWI

Database of Orthologous Groups

More...
OrthoDBi
1403160at2759

Database for complete collections of gene phylogenies

More...
PhylomeDBi
P17480

TreeFam database of animal gene trees

More...
TreeFami
TF328989

Family and domain databases

Gene3D Structural and Functional Annotation of Protein Families

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Gene3Di
1.10.30.10, 6 hits

Integrated resource of protein families, domains and functional sites

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InterProi
View protein in InterPro
IPR029215 HMG_box_5
IPR009071 HMG_box_dom
IPR036910 HMG_box_dom_sf

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF00505 HMG_box, 3 hits
PF09011 HMG_box_2, 1 hit
PF14887 HMG_box_5, 1 hit

Simple Modular Architecture Research Tool; a protein domain database

More...
SMARTi
View protein in SMART
SM00398 HMG, 6 hits

Superfamily database of structural and functional annotation

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SUPFAMi
SSF47095 SSF47095, 6 hits

PROSITE; a protein domain and family database

More...
PROSITEi
View protein in PROSITE
PS50118 HMG_BOX_2, 6 hits

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>.<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (2+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

This entry describes 2 <p>This subsection of the ‘Sequence’ section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform.<p><a href='/help/alternative_products' target='_top'>More...</a></p> 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
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> 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

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>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:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
E9PLT2E9PLT2_HUMAN
Nucleolar transcription factor 1
UBTF
194Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
E9PMM2E9PMM2_HUMAN
Nucleolar transcription factor 1
UBTF
149Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
H0YDH7H0YDH7_HUMAN
Nucleolar transcription factor 1
UBTF
36Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>

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
<p>This subsection of the ‘Sequence’ section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_002193221 – 257Missing in isoform UBF2. 2 PublicationsAdd BLAST37

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...
EMBLi

GenBank nucleotide sequence database

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GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...
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

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS11480.1 [P17480-1]
CCDS42346.1 [P17480-2]

Protein sequence database of the Protein Information Resource

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PIRi
S09318
S18193

NCBI Reference Sequences

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RefSeqi
NP_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]

UniGene gene-oriented nucleotide sequence clusters

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UniGenei
Hs.89781

Genome annotation databases

Ensembl eukaryotic genome annotation project

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Ensembli
ENST00000302904; 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]

Database of genes from NCBI RefSeq genomes

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GeneIDi
7343

KEGG: Kyoto Encyclopedia of Genes and Genomes

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KEGGi
hsa:7343

UCSC genome browser

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UCSCi
uc002igc.4 human [P17480-1]

Keywords - Coding sequence diversityi

Alternative splicing

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>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, 96 interactors
DIPiDIP-640N
IntActiP17480, 29 interactors
MINTiP17480
STRINGi9606.ENSP00000302640

PTM databases

iPTMnetiP17480
PhosphoSitePlusiP17480
SwissPalmiP17480

Polymorphism and mutation databases

BioMutaiUBTF
DMDMi136652

Proteomic databases

EPDiP17480
jPOSTiP17480
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

Comparative Toxicogenomics Database

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CTDi
7343
DisGeNETi7343
EuPathDBiHostDB:ENSG00000108312.14

GeneCards: human genes, protein and diseases

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GeneCardsi
UBTF
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

GenAtlas: human gene database

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GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG0381 Eukaryota
COG5648 LUCA
GeneTreeiENSGT00940000161141
HOGENOMiHOG000232068
HOVERGENiHBG008708
InParanoidiP17480
KOiK09273
OMAiKEKIMWI
OrthoDBi1403160at2759
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

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

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ChiTaRSi
UBTF human
EvolutionaryTraceiP17480

The Gene Wiki collection of pages on human genes and proteins

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GeneWikii
UBTF

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

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GenomeRNAii
7343

Protein Ontology

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PROi
PR:P17480

The Stanford Online Universal Resource for Clones and ESTs

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SOURCEi
Search...

Gene expression databases

BgeeiENSG00000108312 Expressed in 211 organ(s), highest expression level in frontal cortex
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

ProtoNet; Automatic hierarchical classification of proteins

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ProtoNeti
Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the ‘Entry information’ section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiUBF1_HUMAN
<p>This subsection of the ‘Entry information’ section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called ‘Primary (citable) accession number’.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: P17480
Secondary accession number(s): A8K6R8
<p>This subsection of the ‘Entry information’ section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification (‘Last modified’). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: August 1, 1990
Last sequence update: August 1, 1990
Last modified: February 13, 2019
This is version 206 of the entry and version 1 of the sequence. See complete history.
<p>This subsection of the ‘Entry information’ section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>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.

<p>This section contains any relevant information that doesn’t fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

3D-structure, Complete proteome, Reference proteome

Documents

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