NOC3L NOC3 like DNA replication regulator [Homo sapiens (human)] - Gene

Summary

Official Symbol: NOC3Lprovided by HGNC
Official Full Name: NOC3 like DNA replication regulatorprovided by HGNC
Primary source: HGNC:HGNC:24034
See related: Ensembl:ENSG00000173145 MIM:610769; AllianceGenome:HGNC:24034
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: AD24; FAD24; C10orf117
Summary: Enables RNA binding activity. Predicted to be involved in DNA replication initiation. Predicted to act upstream of or within fat cell differentiation. Located in mitochondrion; nucleolus; and nucleoplasm. [provided by Alliance of Genome Resources, Nov 2024]
Expression: Ubiquitous expression in thyroid (RPKM 7.2), testis (RPKM 6.7) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 10q23.33

Exon count:: 23

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	10	NC_000010.11 (94314907..94362939, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	10	NC_060934.1 (95193999..95242036, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	10	NC_000010.10 (96092983..96122696, complement)

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?

Genome-Wide Association Study on Longitudinal Change in Fasting Plasma Glucose in Korean Population.
Title: Genome-Wide Association Study on Longitudinal Change in Fasting Plasma Glucose in Korean Population.
Knockdown of human NOC3 in HeLa cells abrogates the chromatin association of other pre-RC proteins including hCDC6 and hMCM, leading to DNA replication defects and eventual apoptosis in an abortive S-phase. Human NOC3 physically interacts with multiple human pre-replicative complex (pre-RC) proteins and associates with known replication origins throughout the cell cycle.
Title: Human NOC3 is essential for DNA replication licensing in human cells.
We found PLCE1, C11orf92-C11orf93, and NOC3L associated with colorectal cancer susceptibility
Title: Genetic association of PLCE1, C11orf92-C11orf93, and NOC3L with colorectal cancer risk in the Han population.
Results indicate the importance of four gastric cancer susceptibility polymorphisms of IL-10, NOC3L, PSCA and MTRR in the Chinese Han population.
Title: Polymorphisms of tumor-related genes IL-10, PSCA, MTRR and NOC3L are associated with the risk of gastric cancer in the Chinese Han population.
A protein encoded by this locus was found to be differentially expressed in postmortem brains from patients with atypical frontotemporal lobar degeneration.
Title: Proteomic analysis identifies dysfunction in cellular transport, energy, and protein metabolism in different brain regions of atypical frontotemporal lobar degeneration.
Observational study of gene-disease association. (HuGE Navigator)
Title: A scan of chromosome 10 identifies a novel locus showing strong association with late-onset Alzheimer disease.
Fad24, a mammalian homolog of Noc3p, is a positive regulator in adipocyte differentiation.
Title: Fad24, a mammalian homolog of Noc3p, is a positive regulator in adipocyte differentiation.

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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

EBI GWAS Catalog

Description
A shared susceptibility locus in PLCE1 at 10q23 for gastric adenocarcinoma and esophageal squamous cell carcinoma. EBI GWAS Catalog EBI GWAS CatalogPubMed

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

SHGC-57905 (e-PCR)
- UniSTS:67361

RH48066 (e-PCR)
- UniSTS:46520

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables RNA binding	HDA more info	PubMed
enables chromatin binding	IBA Inferred from Biological aspect of Ancestor more info

Process	Evidence Code	Pubs
involved_in DNA replication initiation	IBA Inferred from Biological aspect of Ancestor more info
involved_in fat cell differentiation	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in mitochondrion	IDA Inferred from Direct Assay more info
located_in nuclear speck	IEA Inferred from Electronic Annotation 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
located_in nucleoplasm	IDA Inferred from Direct Assay more info

General protein information

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Preferred Names: nucleolar complex protein 3 homolog

Names: NOC3 protein homolog; NOC3L DNA replication regulator; factor for adipocyte differentiation 24; nucleolar complex associated 3 homolog; nucleolar complex-associated protein 3-like protein

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_022451.11 → NP_071896.8 nucleolar complex protein 3 homolog

See identical proteins and their annotated locations for NP_071896.8

Status: VALIDATED

Source sequence(s)

AI632144, AK091246, BC049850, BX505710

Consensus CDS

CCDS7433.1

UniProtKB/Swiss-Prot

Q8WTT2, Q9H5M6, Q9H9D8

UniProtKB/TrEMBL

A8K905

Related

ENSP00000360412.3, ENST00000371361.3

Conserved Domains (3) summary

COG5117
Location:113 → 711

NOC3; Protein involved in the nuclear export of pre-ribosomes [Translation, ribosomal structure and biogenesis / Intracellular trafficking and secretion]

pfam03914
Location:555 → 708

CBF; CBF/Mak21 family

pfam07540
Location:214 → 308

NOC3p; Nucleolar complex-associated protein