NUDT6 nudix hydrolase 6 [Homo sapiens (human)] - Gene

Summary

Official Symbol: NUDT6provided by HGNC
Official Full Name: nudix hydrolase 6provided by HGNC
Primary source: HGNC:HGNC:8053
See related: Ensembl:ENSG00000170917 MIM:606261; AllianceGenome:HGNC:8053
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: GFG1; GFG-1; ASFGF2; FGF-AS; FGF2AS
Summary: This gene overlaps and lies on the opposite strand from FGF2 gene, and is thought to be the FGF2 antisense gene. The two genes are independently transcribed, and their expression shows an inverse relationship, suggesting that this antisense transcript may regulate FGF2 expression. This gene has also been shown to have hormone-regulatory and antiproliferative actions in the pituitary that are independent of FGF2 expression. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011]
Expression: Ubiquitous expression in fat (RPKM 12.5), kidney (RPKM 8.8) and 23 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 4q28.1

Exon count:: 6

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	4	NC_000004.12 (122892577..122922968, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	4	NC_060928.1 (126196685..126227087, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	4	NC_000004.11 (123813732..123844123, complement)

Chromosome 4 - NC_000004.12 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?

NUDT6 and NUDT9, two mitochondrial members of the NUDIX family, have distinct hydrolysis activities.
Title: NUDT6 and NUDT9, two mitochondrial members of the NUDIX family, have distinct hydrolysis activities.
Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
Title: Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.
Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator)
Title: Polymorphisms in innate immunity genes and risk of childhood leukemia.
Observational study of gene-disease association. (HuGE Navigator)
Title: Investigation of genetic susceptibility factors for human longevity - a targeted nonsynonymous SNP study.
Thus, survivin, Smac, and PKC alpha might play important roles in the inhibition of apoptosis by FGF-2 in human small cell lung cancer cells.
Title: Inhibition of fibroblast growth factor 2-induced apoptosis involves survivin expression, protein kinase C alpha activation and subcellular translocation of Smac in human small cell lung cancer cells.
The aim of this study was to characterize the expression of alternatively spliced FGF-AS transcripts and encoded nudix-motif proteins in normal human tissues and in esophageal adenocarcinoma.
Title: Alternative splicing of the FGF antisense gene: differential subcellular localization in human tissues and esophageal adenocarcinoma.
hydroxyapatite nanocrystals exposure up-regulated FGF-2 mRNA by 6 fold and increased 18 kDa protein isoform by 40%
Title: Nanostructured HA crystals up-regulate FGF-2 expression and activity in microvascular endothelium promoting angiogenesis.
18-kDa FGF-2 harbors a C-terminal nonclassical bipartite nuclear localization signal, a portion of which also regulates its nucleolar localization.
Title: Nuclear and nucleolar localization of 18-kDa fibroblast growth factor-2 is controlled by C-terminal signals.
FGF-2 exhibits antitumor activity in vitro and correlates with expression of FGF receptors expression in medulloblastoma cells
Title: Antitumor activity of fibroblast growth factors (FGFs) for medulloblastoma may correlate with FGF receptor expression and tumor variant.

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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
Genome-wide association study identifies two novel genomic regions in irritable bowel syndrome. 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-59517 (e-PCR)
- UniSTS:24667

D16S325 (e-PCR)
- UniSTS:147089

SHGC-68235 (e-PCR)
- UniSTS:52633

SHGC-59784 (e-PCR)
- UniSTS:12969

G09429 (e-PCR)
- UniSTS:67769

SHGC-31504 (e-PCR)
- UniSTS:48341

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables ADP-ribose diphosphatase activity	IBA Inferred from Biological aspect of Ancestor more info
enables NAD binding	IBA Inferred from Biological aspect of Ancestor more info
enables NADH pyrophosphatase activity	IBA Inferred from Biological aspect of Ancestor more info
enables NADH pyrophosphatase activity	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
involved_in negative regulation of cell cycle	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of cell population proliferation	IDA Inferred from Direct Assay more info	PubMed

Component	Evidence Code	Pubs
located_in cytoplasm	IDA Inferred from Direct Assay more info	PubMed
located_in mitochondrion	HTP more info	PubMed
is_active_in mitochondrion	IDA Inferred from Direct Assay more info	PubMed
located_in nucleus	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: nucleoside diphosphate-linked moiety X motif 6

Names: antisense basic fibroblast growth factor; nudix (nucleoside diphosphate linked moiety X)-type motif 6

NP_009014.2

EC 3.6.1.-

NP_932158.1

EC 3.6.1.-

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.

Genomic

NG_030404.1 RefSeqGene

Range

5408..35428

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_007083.5 → NP_009014.2 nucleoside diphosphate-linked moiety X motif 6 isoform a

See identical proteins and their annotated locations for NP_009014.2

Status: REVIEWED

Description

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

Source sequence(s)

AC021205, AF019633, BC009842, BG386740, CB128685

Consensus CDS

CCDS43268.1

UniProtKB/Swiss-Prot

A8K756, O95097, P53370, Q9UQD9

Related

ENSP00000306070.5, ENST00000304430.10

Conserved Domains (1) summary

cd04670
Location:142 → 275

Nudix_Hydrolase_12; Members of the Nudix hydrolase superfamily catalyze the hydrolysis of NUcleoside DIphosphates linked to other moieties, X. Enzymes belonging to this superfamily require a divalent cation, such as Mg2+ or Mn2+, for their activity and contain a highly ...
NM_198041.3 → NP_932158.1 nucleoside diphosphate-linked moiety X motif 6 isoform b

See identical proteins and their annotated locations for NP_932158.1

Status: REVIEWED

Description

Transcript Variant: This variant (2) differs in the 5' UTR, lacks a portion of the 5' coding region, and uses a downstream, in-frame start codon, compared to variant 1. The encoded isoform (b) has a shorter N-terminus, compared to isoform a.

Source sequence(s)

AC021205, AF019632, BC009842

Consensus CDS

CCDS3729.1

UniProtKB/TrEMBL

B4DG76

Related

ENSP00000344011.2, ENST00000339154.6

Conserved Domains (1) summary

cl00447
Location:1 → 106

Nudix_Hydrolase; Nudix hydrolase is a superfamily of enzymes found in all three kingdoms of life, and it catalyzes the hydrolysis of NUcleoside DIphosphates linked to other moieties, X. Enzymes belonging to this superfamily require a divalent cation, such as Mg2+ or Mn2+ ...