TCF25 TCF25 ribosome quality control complex subunit [Homo sapiens (human)] - Gene

Summary

Official Symbol: TCF25provided by HGNC
Official Full Name: TCF25 ribosome quality control complex subunitprovided by HGNC
Primary source: HGNC:HGNC:29181
See related: Ensembl:ENSG00000141002 MIM:612326; AllianceGenome:HGNC:29181
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: Hulp1; NULP1; FKSG26; PRO2620; hKIAA1049
Summary: TCF25 is a member of the basic helix-loop-helix (bHLH) family of transcription factors that are important in embryonic development (Steen and Lindholm, 2008 [PubMed 18068114]).[supplied by OMIM, Sep 2008]
Expression: Ubiquitous expression in thyroid (RPKM 33.1), testis (RPKM 28.8) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 16q24.3

Exon count:: 18

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	16	NC_000016.10 (89873592..89911379)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	16	NC_060940.1 (95958631..95997624)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	16	NC_000016.9 (89940000..89977787)

Chromosome 16 - NC_000016.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

NULP1 Alleviates Cardiac Hypertrophy by Suppressing NFAT3 Transcriptional Activity.
Title: NULP1 Alleviates Cardiac Hypertrophy by Suppressing NFAT3 Transcriptional Activity.
Hearing ability was strongly associated with DNA methylation levels in the promoter regions of several genes, including TCF25, FGFR1, and POLE.
Title: Epigenome-wide DNA methylation in hearing ability: new mechanisms for an old problem.
Observational study of gene-disease association. (HuGE Navigator)
Title: Association of genetic variants with hemorrhagic stroke in Japanese individuals.
These results indicate that Nulp1 plays a role in cell death control and may influence tumor growth.
Title: Nuclear localized protein-1 (Nulp1) increases cell death of human osteosarcoma cells and binds the X-linked inhibitor of apoptosis protein.
hnulp1 may act as a novel transcriptional repressor in serum response factor signaling pathways.
Title: hnulp1, a basic helix-loop-helix protein with a novel transcriptional repressive domain, inhibits transcriptional activity of serum response factor.

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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)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

MARC_52622-52623:1146767377:1 (e-PCR)
- UniSTS:508105

MARC_52624-52625:1146768114:1 (e-PCR)
- UniSTS:508106

RH80305 (e-PCR)
- UniSTS:83675

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables DNA binding	IEA Inferred from Electronic Annotation more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables transcription corepressor activity	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
involved_in heart development	NAS Non-traceable Author Statement more info	PubMed
involved_in negative regulation of transcription by RNA polymerase II	IDA Inferred from Direct Assay more info	PubMed
involved_in regulation of protein K48-linked ubiquitination	IDA Inferred from Direct Assay more info	PubMed
involved_in rescue of stalled ribosome	IDA Inferred from Direct Assay more info	PubMed

Component	Evidence Code	Pubs
part_of RQC complex	IBA Inferred from Biological aspect of Ancestor more info
part_of RQC complex	IDA Inferred from Direct Assay more info	PubMed
located_in cytosol	IEA Inferred from Electronic Annotation more info
is_active_in nucleus	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: ribosome quality control complex subunit TCF25

Names: TCF-25; nuclear localized protein 1; transcription factor 25 (basic helix-loop-helix)

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.