UTF1 undifferentiated embryonic cell transcription factor 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: UTF1provided by HGNC
Official Full Name: undifferentiated embryonic cell transcription factor 1provided by HGNC
Primary source: HGNC:HGNC:12634
See related: Ensembl:ENSG00000171794 MIM:604130; AllianceGenome:HGNC:12634
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Summary: The protein encoded by this gene is a leucine zipper-containing transcriptional coactivator that may link the upstream activator ATF2 with the basal transcription complex. The encoded protein is closely associated with chromatin and is required for the proper differentiation of embryonic carcinoma and embryonic stem cells. Found nearly exclusively in pluripotent cells, this protein can also serve as a transcriptional repressor. [provided by RefSeq, Nov 2015]
Expression: Low expression observed in reference dataset See more
Orthologs: mouse all
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Genomic context

Location:: 10q26.3

Exon count:: 2

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	10	NC_000010.11 (133230217..133231558)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	10	NC_060934.1 (134185709..134187050)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	10	NC_000010.10 (135043721..135045062)

Chromosome 10 - NC_000010.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Sox9 downregulation in non-obstructive azoospermia by UTF1 and mediator role of POU5F1.
Title: Sox9 downregulation in non-obstructive azoospermia by UTF1 and mediator role of POU5F1.
The Sumo proteome of proliferating and neuronal-differentiating cells reveals Utf1 among key Sumo targets involved in neurogenesis.
Title: The Sumo proteome of proliferating and neuronal-differentiating cells reveals Utf1 among key Sumo targets involved in neurogenesis.
With a sensitivity of 100% and a specificity of 97% in the detection of central nervous system (CNS) germinomas, UTF1 serves as a new reliable alternative in the diagnostic setting of CNS germ cell tumours.
Title: The embryonic stem cell factor UTF1 serves as a reliable diagnostic marker for germinomas.
UTF1 attenuates cell proliferation and is inactivated in cervical carcinogenesis through epigenetic modification.
Title: Undifferentiated embryonic cell transcription factor-1 (UTF1) inhibits the growth of cervical cancer cells by transactivating p27Kip1.
These findings strongly suggest that UTF1 promoter methylation profile might be a useful biomarker for cervical cancer diagnosis.
Title: Aberrant promoter methylation and expression of UTF1 during cervical carcinogenesis.
Utf1 couples the core pluripotency factors with Myc and PRC2 networks to promote the pluripotency and proliferation of embryonic stem cells.
Title: Regulation of pluripotency and self- renewal of ESCs through epigenetic-threshold modulation and mRNA pruning.
role for UTF1 in differentiation of matrix cells of the shaft as well as in suprabasal keratinocytes.
Title: Embryonic stem cell factors undifferentiated transcription factor-1 (UFT-1) and reduced expression protein-1 (REX-1) are widely expressed in human skin and may be involved in cutaneous differentiation but not in stem cell fate determination.
Human UTF1 is a tightly DNA-associated protein with transcriptional repressor activity.
Title: Characterization of human UTF1, a chromatin-associated protein with repressor activity expressed in pluripotent cells.
Strong UTF1 staining can be used for diagnosing embryonal carcinoma and seminoma. UTF1 expression in spermatogonia suggests its possible role in spermatogenesis and renewal of spermatogonia.
Title: Expression of UTF1 in primary and metastatic testicular germ cell tumors.
Single SNPs did not alter the chromatin association and mobility of hUTF1; however, the double mutant, G73R/L275M, demonstrated a decreased chromatin association, indicating a degree of protein malfunction.
Title: Functional characterization of single-nucleotide polymorphisms in the human undifferentiated embryonic-cell transcription factor 1 gene.

Submit: New GeneRIF Correction See all GeneRIFs (12)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

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Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables transcription coactivator activity	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
involved_in male gonad development	IEP Inferred from Expression Pattern more info	PubMed
involved_in positive regulation of transcription by RNA polymerase II	IDA Inferred from Direct Assay more info	PubMed
involved_in regulation of transcription by RNA polymerase II	TAS Traceable Author Statement more info	PubMed

Component	Evidence Code	Pubs
located_in nucleus	IC Inferred by Curator more info	PubMed
located_in nucleus	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: undifferentiated embryonic cell transcription factor 1

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.