UXT

protein-coding

ubiquitously expressed prefoldin like chaperone, the group of Prefoldin subunits

Gene summary

The protein encoded by this gene functions as a cofactor that modulates androgen receptor-dependent transcription, and also plays a critical role in tumor necrosis factor-induced apoptosis. Expression of this gene may play a role in tumorigenesis. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Nov 2011]

MANE transcript

NM_004182.4

Inheritance

—

ClinVar variants

U:44

Top phenotype

—

gnomAD constraint

pLI —, LoF o/e 0

Max pathogenic AF

—

Genomic locus

chrX:47,651,796-47,659,180

External References & Databases

Ensembl (ENSG00000126756)

Transcript & Mutation Effects

hg38 • Region Span ~7.4 kb

Loading mutation effect viewer...

GenCC Phenotypes & Disease Associations

Curated gene-disease validity assertions and inheritance patterns

No GenCC data available for this gene.

ClinVar Associated Diseases & Phenotypes

Reported disease conditions connected to UXT variants in ClinVar

1 Conditions Cataloged

not specifiedTotal: 21

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_004182.4. Only rare variants are included.

We include only reliable ClinVar variants with their consequences to MANE Select, MANE Plus Clinical transcripts, or transcripts with TSL equal to 1. Click a count to filter the variants table below.

Slight differences between displayed counts and ClinVar may occur due to a different transcript/consequence chosen by our variant effect predictor, or because we classify Benign/Likely benign as Likely benign and Pathogenic/Likely pathogenic as Likely pathogenic.

Effect	PathogenicP	Likely pathogenicLP	VUS	Likely benignLB	BenignB	Sum
synonymous			1 clinvar			1
missense			31 clinvar			31
nonsense			2 clinvar			2
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)			10 clinvar			10
Total	0	0	44	0	0	44

Loading ClinVar variants...

Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 44 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_004182.4	RefSeq	NP_004173.1	6	MANE Select
ENST00000333119.8	Ensembl	ENSP00000327797.3	6	MANE Select
NM_153477.3	RefSeq	NP_705582.1	6	Standard
ENST00000335890.3	Ensembl	ENSP00000337393.2	6	Standard

Model Organisms & Knockout Phenotypes

Observed phenotypic effects in mouse and zebrafish models

Gene / Model	Organism	Observed Phenotype
uxt	Danio rerio	Structure: endothelial tip cell Quality: decreased rate abnormal

Gene / Model

Organism

Observed Phenotype

uxt

Danio rerio

Structure: endothelial tip cell

Quality: decreased rate

abnormal

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Pathways ConsensusPathDB

Gene expression (Transcription)
Transcriptional Regulation by E2F6
Generic Transcription Pathway
RNA Polymerase II Transcription
E2F transcription factor network

Biological Process

negative regulation of transcription by RNA polymerase II
microtubule cytoskeleton organization
apoptotic process
centrosome cycle
mitochondrion transport along microtubule

Molecular Function

chromatin binding
transcription coregulator activity
transcription corepressor activity
protein binding
microtubule binding

Cellular Component

chromatin
spindle pole
gamma-tubulin complex
nucleus
nucleoplasm

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000335890
Coding exons: 6
Length: 7364
Individuals with no LoFs: 0
Homozygous LoFs: 0
Heterozygous LoFs: 0
Defined: 0
p: 0.00

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	0.693	44	59.0	0.746	0.00000421	1094
Missense (PolyPhen)		3	15.751	0.19047		358
Synonymous	0.115	23	23.7	0.970	0.00000165	327
Loss of Function	2.36	0	6.51	0.00	5.19e-7	112

Population LoF Frequency

Population	CAF	p-value	Status
African	0	0.0	absent
Latino/Admixed American	0	0.0	absent
Ashkenazi Jewish	0	0.0	absent
East Asian	0	0.0	absent
Finnish	0	0.0	absent
European (Non-Finnish)	0	0.0	absent
South Asian	0	0.0	absent
Other	0	0.0	absent

dbNSFP Gene Annotations

Source: dbNSFP

Function: FUNCTION: Involved in gene transcription regulation (PubMed:28106301, PubMed:21730289). Acts in concert with the corepressor URI1 to regulate androgen receptor AR-mediated transcription (PubMed:11854421, PubMed:21730289). Together with URI1, associates with chromatin to the NKX3-1 promoter region (PubMed:21730289). Negatively regulates the transcriptional activity of the estrogen receptor ESR1 by inducing its translocation into the cytoplasm (PubMed:28106301). May act as nuclear chaperone that facilitates the formation of the NF-kappa-B enhanceosome and thus positively regulates NF-kappa-B transcription activity (PubMed:17620405, PubMed:21307340). Potential component of mitochondrial-associated LRPPRC, a multidomain organizer that potentially integrates mitochondria and the microtubular cytoskeleton with chromosome remodeling (PubMed:17554592). Increasing concentrations of UXT contributes to progressive aggregation of mitochondria and cell death potentially through its association with LRPPRC (PubMed:17554592). Suppresses cell transformation and it might mediate this function by interaction and inhibition of the biological activity of cell proliferation and survival stimulatory factors like MECOM (PubMed:17635584). {ECO:0000269|PubMed:11827465, ECO:0000269|PubMed:11854421, ECO:0000269|PubMed:16221885, ECO:0000269|PubMed:17554592, ECO:0000269|PubMed:17620405, ECO:0000269|PubMed:17635584, ECO:0000269|PubMed:21307340, ECO:0000269|PubMed:21730289, ECO:0000269|PubMed:28106301}.;

Recessive Scores

pRec: 0.303

Intolerance Scores

RVIS EVS: -0.08
RVIS percentile EVS: 47.79

Essentials

Essential (CRISPR): N
Essential (CRISPR2): E
Essential (gene trap): E
Indispensability pred.: E
Indispensability score: 0.539

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	Low	Low	Low
Primary Immunodeficiency	Medium	Low	Medium
Cancer	Low	Low	Low