UTP14C UTP14C small subunit processome component [Homo sapiens (human)] - Gene

Summary

Official Symbol: UTP14Cprovided by HGNC
Official Full Name: UTP14C small subunit processome componentprovided by HGNC
Primary source: HGNC:HGNC:20321
See related: Ensembl:ENSG00000253797 MIM:608969; AllianceGenome:HGNC:20321
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: UTP14B; KIAA0266; 2700066J21Rik
Summary: Predicted to be involved in several processes, including meiotic cell cycle; rRNA processing; and spermatogenesis. Located in cytosol and nucleolus. [provided by Alliance of Genome Resources, Apr 2022]
Expression: Ubiquitous expression in thyroid (RPKM 12.7), kidney (RPKM 9.1) and 25 other tissues See more
Orthologs: all
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Genomic context

Location:: 13q14.3

Exon count:: 2

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	13	NC_000013.11 (52024691..52033600)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	13	NC_060937.1 (51239507..51248416)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	13	NC_000013.10 (52598827..52607736)

Chromosome 13 - NC_000013.11 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
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?

We hypothesize that women, whose ovaries express UTP14c, are predisposed to ovarian cancer due to the disruption of protective signals that normally trigger TP53-mediated apoptosis and the dysregulation of genes that promote oncogenesis
Title: Does expression of the retrogene UTP14c in the ovary pre-dispose women to ovarian cancer?
may be functionally equivalent to mouse Utp14b and required for normal male fertility in humans
Title: UTP14c is a recently acquired retrogene associated with spermatogenesis and fertility in man.

Submit: New GeneRIF Correction

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

WI-13764 (e-PCR)
- UniSTS:23579

STS-N34663 (e-PCR)
- UniSTS:41792

RH103804 (e-PCR)
- UniSTS:98129

SHGC-3226 (e-PCR)
- UniSTS:34135

RH94249 (e-PCR)
- UniSTS:87966

G20449 (e-PCR)
- UniSTS:77220

A005R37 (e-PCR)
- UniSTS:77221

WI-20648 (e-PCR)
- UniSTS:29375

G30316 (e-PCR)
- UniSTS:22994

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in cell differentiation	IEA Inferred from Electronic Annotation more info
involved_in meiotic cell cycle	IEA Inferred from Electronic Annotation more info
involved_in rRNA processing	IEA Inferred from Electronic Annotation more info
involved_in spermatogenesis	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in cytosol	IDA Inferred from Direct Assay more info
is_active_in nucleolus	IBA Inferred from Biological aspect of Ancestor more info
located_in nucleolus	IDA Inferred from Direct Assay more info
part_of small-subunit processome	IBA Inferred from Biological aspect of Ancestor more info

General protein information

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Preferred Names: U3 small nucleolar RNA-associated protein 14 homolog C

Names: UTP14, U3 small nucleolar ribonucleoprotein, homolog C; UTP14, small subunit processome component homolog C

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.