UTP14A UTP14A small subunit processome component [Homo sapiens (human)] - Gene

Summary

Official Symbol: UTP14Aprovided by HGNC
Official Full Name: UTP14A small subunit processome componentprovided by HGNC
Primary source: HGNC:HGNC:10665
See related: Ensembl:ENSG00000156697 MIM:300508; AllianceGenome:HGNC:10665
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
Also known as: Utp14; NYCO16; SDCCAG16; dJ537K23.3
Summary: This gene encodes a member of the uridine triphosphate 14 family. As an essential component of a large ribonucleoprotein complex bound to the U3 small nucleolar RNA, the encoded protein is involved in ribosome biogenesis and 18S rRNA synthesis. An autosomal retrotransposed copy of this X-linked gene exists on chromosome 13. Alternative splicing results in multiple transcript variants.[provided by RefSeq, Oct 2009]
Expression: Ubiquitous expression in lymph node (RPKM 5.9), appendix (RPKM 5.8) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: Xq26.1

Exon count:: 18

Annotation release	Status	Assembly	Chr	Location
RS_2023_03	current	GRCh38.p14 (GCF_000001405.40)	X	NC_000023.11 (129906164..129929752)
RS_2023_03	current	T2T-CHM13v2.0 (GCF_009914755.1)	X	NC_060947.1 (128224954..128248543)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	X	NC_000023.10 (129040140..129063728)

Chromosome X - NC_000023.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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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?

Results suggest that UTP14a expression is correlated with tumor proliferation and invasion; higher expression of UTP14a is a predictor of poor prognosis in patients with esophageal squamous cell carcinoma (ESCC). Additionally, knockdown of UTP14a inhibits cell proliferation and invasion in ESCC cell line, ECA109.
Title: Overexpression of U three protein 14a (UTP14a) is associated with poor prognosis of esophageal squamous cell carcinoma.
UTP14a promotes angiogenesis through upregulating transcription and secretion of PDGFA in colorectal cancer.
Title: Human UTP14a promotes angiogenesis through upregulating PDGFA expression in colorectal cancer.
hUTP14a interacts with c-Myc and protects c-Myc from ubiquitination and degradation in a USP36-dependent way.
Title: Human UTP14a promotes colorectal cancer progression by forming a positive regulation loop with c-Myc.
suggesting that hUTP14a might possess a potential as a candidate marker for the early diagnosis screening of non-small cell lung cancer
Title: [Expression of hUTP14a in non-small cell lung cancer].
The hUTP14a protected tumor cells from chemotherapeutic drug-induced apoptosis and thus might possess a potential as a target for anti-tumor therapy.
Title: Human U3 protein 14a plays an anti-apoptotic role in cancer cells.
The positivity rate of hUTP14a expression was significantly higher in HCC specimens. Positive expression of nucleolar hUTP14a might act as a novel prognostic predictor for patients with HCC
Title: Human U Three Protein 14a Expression is Increased in Hepatocellular Carcinoma and Associated with Poor Prognosis.
hUTP14a physically interacts with p53 and functionally promotes p53 turn-over
Title: A small ribosomal subunit (SSU) processome component, the human U3 protein 14A (hUTP14A) binds p53 and promotes p53 degradation.

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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

AL032566 (e-PCR)
- UniSTS:93241

A004M32 (e-PCR)
- UniSTS:35480

STS-H16242 (e-PCR)
- UniSTS:16320

Homology

Homologs of the UTP14A gene: The UTP14A gene is conserved in chimpanzee, Rhesus monkey, dog, cow, mouse, rat, and C.elegans.
Orthologs from Annotation Pipeline: 320 organisms have orthologs with human gene UTP14A
Orthologs

Gene Ontology Provided by GOA

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

Process	Evidence Code	Pubs
involved_in rRNA processing	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	PubMed
located_in nucleolus	IDA Inferred from Direct Assay more info
located_in nucleoplasm	TAS Traceable Author Statement more info
part_of small-subunit processome	IBA Inferred from Biological aspect of Ancestor more info	PubMed

General protein information

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

Names: UTP14, U3 small nucleolar ribonucleoprotein, homolog A; UTP14A small subunit (SSU) processome component; antigen NY-CO-16; serologically defined colon cancer antigen 16

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.

mRNA and Protein(s)

NM_001166221.2 → NP_001159693.1 U3 small nucleolar RNA-associated protein 14 homolog A isoform 2

Status: REVIEWED

Description

Transcript Variant: This variant (2) lacks an alternate in-frame exon in the central coding region, compared to variant 1, resulting in an isoform (2) that is shorter than isoform 1.

Source sequence(s)

AK291918, AK298578, BQ017502, BU942896

Consensus CDS

CCDS55489.1

UniProtKB/Swiss-Prot

Q9BVJ6

Related

ENSP00000388669.2, ENST00000425117.6

Conserved Domains (1) summary

pfam04615
Location:29 → 681

Utp14; Utp14 protein
NM_006649.4 → NP_006640.2 U3 small nucleolar RNA-associated protein 14 homolog A isoform 1

See identical proteins and their annotated locations for NP_006640.2

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).

Source sequence(s)

AK291918, BQ017502

Consensus CDS

CCDS14615.1

UniProtKB/Swiss-Prot

Q5JYF1, Q9BVJ6

Related

ENSP00000377944.3, ENST00000394422.8

Conserved Domains (1) summary

pfam04615
Location:29 → 733

Utp14; Utp14 protein

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_03

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000023.11 Reference GRCh38.p14 Primary Assembly

Range

129906164..129929752

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_047441790.1 → XP_047297746.1 U3 small nucleolar RNA-associated protein 14 homolog A isoform X1
XM_047441791.1 → XP_047297747.1 U3 small nucleolar RNA-associated protein 14 homolog A isoform X2

Alternate T2T-CHM13v2.0

Genomic

NC_060947.1 Alternate T2T-CHM13v2.0

Range

128224954..128248543

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054326402.1 → XP_054182377.1 U3 small nucleolar RNA-associated protein 14 homolog A isoform X1
XM_054326403.1 → XP_054182378.1 U3 small nucleolar RNA-associated protein 14 homolog A isoform X2