NUDT7 nudix hydrolase 7 [Homo sapiens (human)] - Gene

Summary

Official Symbol: NUDT7provided by HGNC
Official Full Name: nudix hydrolase 7provided by HGNC
Primary source: HGNC:HGNC:8054
See related: Ensembl:ENSG00000140876 MIM:609231; AllianceGenome:HGNC:8054
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
Summary: The protein encoded by this gene is a member of the Nudix hydrolase family. Nudix hydrolases eliminate potentially toxic nucleotide metabolites from the cell and regulate the concentrations and availability of many different nucleotide substrates, cofactors, and signaling molecules. Alternatively spliced transcript variants encoding multiple isoforms have been found for this gene. [provided by RefSeq, Aug 2011]
Expression: Ubiquitous expression in liver (RPKM 10.5), heart (RPKM 9.9) and 24 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 16q23.1

Exon count:: 6

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	16	NC_000016.10 (77722514..77742260)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	16	NC_060940.1 (83778636..83798355)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	16	NC_000016.9 (77756411..77776157)

Chromosome 16 - NC_000016.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Tissue-specific circular RNA induction during human fetal development
Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
BioProject: PRJNA270632
Publication: PMID 26076956
Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Observational study of gene-disease association. (HuGE Navigator)
Title: Fine mapping and association studies of a high-density lipoprotein cholesterol linkage region on chromosome 16 in French-Canadian subjects.

Submit: New GeneRIF Correction

Phenotypes

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Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population. 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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Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
NOT enables 5'-(N(7)-methylguanosine 5'-triphospho)-[mRNA] hydrolase activity	ISS Inferred from Sequence or Structural Similarity more info
enables coenzyme A diphosphatase activity	ISS Inferred from Sequence or Structural Similarity more info
enables magnesium ion binding	ISS Inferred from Sequence or Structural Similarity more info
enables manganese ion binding	IEA Inferred from Electronic Annotation more info
enables snoRNA binding	ISS Inferred from Sequence or Structural Similarity more info

Process	Evidence Code	Pubs
involved_in acetyl-CoA catabolic process	ISS Inferred from Sequence or Structural Similarity more info
involved_in brown fat cell differentiation	IEA Inferred from Electronic Annotation more info
involved_in butyryl-CoA catabolic process	ISS Inferred from Sequence or Structural Similarity more info
involved_in coenzyme A catabolic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in coenzyme A catabolic process	ISS Inferred from Sequence or Structural Similarity more info
involved_in malonyl-CoA catabolic process	ISS Inferred from Sequence or Structural Similarity more info
involved_in medium-chain fatty-acyl-CoA catabolic process	ISS Inferred from Sequence or Structural Similarity more info
involved_in nucleoside diphosphate metabolic process	IEA Inferred from Electronic Annotation more info
involved_in propionyl-CoA catabolic process	ISS Inferred from Sequence or Structural Similarity more info
involved_in propionyl-CoA metabolic process	ISS Inferred from Sequence or Structural Similarity more info
involved_in succinyl-CoA catabolic process	ISS Inferred from Sequence or Structural Similarity more info

Component	Evidence Code	Pubs
located_in cytosol	TAS Traceable Author Statement more info
located_in peroxisomal matrix	TAS Traceable Author Statement more info
located_in peroxisome	ISS Inferred from Sequence or Structural Similarity more info

General protein information

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Preferred Names: peroxisomal coenzyme A diphosphatase NUDT7

Names: nudix (nucleoside diphosphate linked moiety X)-type motif 7

NP_001099133.1

EC 3.6.1.77

NP_001230586.1

EC 3.6.1.77

NP_001230589.1

EC 3.6.1.77

NP_001230590.1

EC 3.6.1.77

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_028059.1 RefSeqGene

Range

5001..24747

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001105663.3 → NP_001099133.1 peroxisomal coenzyme A diphosphatase NUDT7 isoform 1

See identical proteins and their annotated locations for NP_001099133.1

Status: REVIEWED

Description

Transcript Variant: This variant (1) encodes the longest isoform (1).

Source sequence(s)

AI927964, AK296963, BU579534, BX387030

Consensus CDS

CCDS42195.1

UniProtKB/Swiss-Prot

B4DLE5, H3BUB8, P0C024

Related

ENSP00000268533.5, ENST00000268533.9

Conserved Domains (1) summary

cd03426
Location:41 → 201

CoAse; Coenzyme A pyrophosphatase (CoAse), a member of the Nudix hydrolase superfamily, functions to catalyze the elimination of oxidized inactive CoA, which can inhibit CoA-utilizing enzymes. The need of CoAses mainly arises under conditions of oxidative ...
NM_001243657.2 → NP_001230586.1 peroxisomal coenzyme A diphosphatase NUDT7 isoform 3

Status: REVIEWED

Description

Transcript Variant: This variant (3) includes an alternate exon in the coding region, which results in a frameshift, compared to variant 1. The encoded isoform (3) is shorter and has a distinct C-terminus, compared to isoform 1.

Source sequence(s)

AI927964, AK296963, BX387030, CN297379

Consensus CDS

CCDS58479.1

UniProtKB/Swiss-Prot

P0C024

Related

ENSP00000457566.1, ENST00000564085.5

Conserved Domains (1) summary

cd03426
Location:41 → 115

CoAse; Coenzyme A pyrophosphatase (CoAse), a member of the Nudix hydrolase superfamily, functions to catalyze the elimination of oxidized inactive CoA, which can inhibit CoA-utilizing enzymes. The need of CoAses mainly arises under conditions of oxidative ...
NM_001243660.2 → NP_001230589.1 peroxisomal coenzyme A diphosphatase NUDT7 isoform 4

Status: REVIEWED

Description

Transcript Variant: This variant (4) lacks an exon and contains an alternate exon in the coding region, but maintains the reading frame, compared to variant 1. The encoded isoform (4) is shorter than isoform 1.

Source sequence(s)

AC092724, AI927964, AK296963, BX387030

Consensus CDS

CCDS73916.1

UniProtKB/TrEMBL

A0A087WVP7

Related

ENSP00000479582.1, ENST00000613075.4

Conserved Domains (1) summary

cl00447
Location:41 → 186

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+ ...
NM_001243661.2 → NP_001230590.1 peroxisomal coenzyme A diphosphatase NUDT7 isoform 2

See identical proteins and their annotated locations for NP_001230590.1

Status: REVIEWED

Description

Transcript Variant: This variant (2) lacks an exon in the coding region but maintains the reading frame, compared to variant 1. The encoded isoform (2) is shorter than isoform 1.

Source sequence(s)

AI927964, AK296963, BX387030

Consensus CDS

CCDS58480.1

UniProtKB/Swiss-Prot

P0C024

Related

ENSP00000387707.3, ENST00000437314.3

Conserved Domains (1) summary

cl00447
Location:41 → 148

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+ ...