UBTF

Protein identityUniProt · HPA

UniProt accession

P17480

Gene

UBTF

Ensembl

ENSG00000108312

Chromosome

17

Canonical length

764 aa

Protein class

Disease related genes, Human disease related genes, Plasma proteins, Predicted intracellular proteins, Transcription factors

Subcellular location

Nucleoli fibrillar center

Quaternary structure

Homodimer

OverviewNCBI 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 regions. The encoded protein may also play important roles in chromatin remodeling and pre-rRNA processing, and its activity is regulated by both phosphorylation and acetylation. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. Pseudogenes of this gene are located on the short arm of chromosomes 3, 11 and X and the long arm of chromosome 11. [provided by RefSeq, Aug 2011]

Canonical amino-acid sequenceUniProt

764 residues, UniProt reviewed canonical sequence.

>P17480|UBTF
     1  MNGEADCPTD LEMAAPKGQD RWSQEDMLTL LECMKNNLPS NDSSKFKTTE SHMDWEKVAF
    61  KDFSGDMCKL KWVEISNEVR KFRTLTELIL DAQEHVKNPY KGKKLKKHPD FPKKPLTPYF
   121  RFFMEKRAKY AKLHPEMSNL DLTKILSKKY KELPEKKKMK YIQDFQREKQ EFERNLARFR
   181  EDHPDLIQNA KKSDIPEKPK TPQQLWYTHE KKVYLKVRPD ATTKEVKDSL GKQWSQLSDK
   241  KRLKWIHKAL EQRKEYEEIM RDYIQKHPEL NISEEGITKS TLTKAERQLK DKFDGRPTKP
   301  PPNSYSLYCA ELMANMKDVP STERMVLCSQ QWKLLSQKEK DAYHKKCDQK KKDYEVELLR
   361  FLESLPEEEQ QRVLGEEKML NINKKQATSP ASKKPAQEGG KGGSEKPKRP VSAMFIFSEE
   421  KRRQLQEERP ELSESELTRL LARMWNDLSE KKKAKYKARE AALKAQSERK PGGEREERGK
   481  LPESPKRAEE IWQQSVIGDY LARFKNDRVK ALKAMEMTWN NMEKKEKLMW IKKAAEDQKR
   541  YERELSEMRA PPAATNSSKK MKFQGEPKKP PMNGYQKFSQ ELLSNGELNH LPLKERMVEI
   601  GSRWQRISQS QKEHYKKLAE EQQKQYKVHL DLWVKSLSPQ DRAAYKEYIS NKRKSMTKLR
   661  GPNPKSSRTT LQSKSESEED DEEDEDDEDE DEEEEDDENG DSSEDGGDSS ESSSEDESED
   721  GDENEEDDED EDDDEDDDED EDNESEGSSS SSSSSGDSSD SDSN

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against UBTF can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability

Intracellular

Secreted

No

Transmembrane segments

0

Mean surface accessibility (rSASA)

0.44

Highest tissue expression

69 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about UBTF.

Disease | AllUniProt

Conditions UBTF is implicated in, by any mechanism.

• Neurodegeneration, childhood-onset, with brain atrophy (CONDBA) MIM:617672

Disease | GeneticClinVar

7 pathogenic / likely-pathogenic of 194 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder
• UBTF-related disorder
• UBTF E210K Neuroregression Syndrome
• Infantile or childhood onset neurodegenerative disease, global developmental delay, and intellectual disability
• Inborn genetic diseases

Disease | AutoantibodyPubMed

Conditions in which antibodies against UBTF are reported. Each links to that disease's full target list.

• Scleroderma, Systemic 9

ReferencesPubMed · IEDB

Publications for UBTF from three distinct lines of evidence, kept separate because they answer different questions: whether antibodies are directed at the protein, whether a B-cell epitope has been mapped on it, and whether a T-cell epitope has. Each is labelled with its source.

Sources: PubMed — antigen-level antibody evidence from a custom retrieval. Records matching a controlled set of autoantibody terms (the MeSH descriptors Autoantibodies and Autoantigens, with title and abstract term variants) were obtained through NCBI E-utilities, and their titles and abstracts parsed for constructions that direct an antibody at a named protein rather than for co-occurrence. Captured names were resolved against UniProt nomenclature and each antigen adjudicated individually against the source text. Bibliographic records from PubMed and MeSH, U.S. National Library of Medicine; citation metrics from NIH iCite (Hutchins et al., PLoS Biology 2016). Titles link to PubMed; abstracts are not reproduced here. The NLM does not endorse this analysis.

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)

0.06

gnomAD pLI

1

gnomAD missense Z

4.75

DepMap mean gene effect

-1.67

DepMap dependency class

pan

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

• positive regulation of transcription by RNA polymerase I
• transcription by RNA polymerase I
• transcription initiation at RNA polymerase I promoter

Molecular functions

• chromatin binding
• RNA binding
• RNA polymerase I core promoter sequence-specific DNA binding
• RNA polymerase I general transcription initiation factor activity
• scaffold protein binding
• RNA polymerase I cis-regulatory region sequence-specific DNA binding

Cellular components

• fibrillar center
• nucleolus
• nucleoplasm
• nucleus

Protein domainsUniProt · Pfam · InterPro

• High mobility group box domain
• High mobility group box domain superfamily
• Upstream Binding Factor 1
• HMG (high mobility group) box
• HMG-box domain
• High mobility group box domain 5
• HMG (high mobility group) box 5

KeywordsUniProt

• Acetylation
• Activator
• DNA-binding
• Intellectual disability
• Neurodegeneration
• Nucleus
• Phosphoprotein
• Repeat
• Transcription
• Transcription regulation

InteractionsUniProt · HPA

Protein binding partners of UBTF in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

• ALKBH2
• CEBPA
• DDX11
• DHX33
• NOP53
• PHF6
• RASL11A
• TAF1A
• TBP
• TOP2A
• SIRT7
• POLR1G
• PHF8
• TAF1D
• PES1
• IRS1
• MYC
• RUNX2