NUDT8 nudix hydrolase 8 [Homo sapiens (human)] - Gene

Summary

Official Symbol: NUDT8provided by HGNC
Official Full Name: nudix hydrolase 8provided by HGNC
Primary source: HGNC:HGNC:8055
See related: Ensembl:ENSG00000167799 AllianceGenome:HGNC:8055
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
Summary: Predicted to enable magnesium ion binding activity and manganese ion binding activity. Predicted to be involved in purine nucleoside bisphosphate catabolic process. Predicted to be located in mitochondrion. [provided by Alliance of Genome Resources, Apr 2022]
Expression: Broad expression in kidney (RPKM 5.4), heart (RPKM 4.8) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 11q13.2

Exon count:: 4

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	11	NC_000011.10 (67627938..67629937, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	11	NC_060935.1 (67622625..67624624, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	11	NC_000011.9 (67395409..67397408, complement)

Chromosome 11 - NC_000011.10 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: 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?

Observational study of gene-disease association. (HuGE Navigator)
Title: Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.

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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Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables coenzyme A diphosphatase activity	IEA Inferred from Electronic Annotation more info
enables magnesium ion binding	ISS Inferred from Sequence or Structural Similarity more info
enables manganese ion 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 butyryl-CoA catabolic process	ISS Inferred from Sequence or Structural Similarity 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 propionyl-CoA catabolic 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 mitochondrion	ISS Inferred from Sequence or Structural Similarity more info

General protein information

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Preferred Names: mitochondrial coenzyme A diphosphatase NUDT8

Names: nucleoside diphosphate-linked moiety X motif 8, mitochondrial; nudix (nucleoside diphosphate linked moiety X)-type motif 8; nudix motif 8

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_001243750.2 → NP_001230679.1 mitochondrial coenzyme A diphosphatase NUDT8 isoform 1

See identical proteins and their annotated locations for NP_001230679.1

Status: VALIDATED

Description

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

Source sequence(s)

AK123561, AP003385, CB140633

Consensus CDS

CCDS58151.1

UniProtKB/Swiss-Prot

Q6ZW59, Q8WV74

Related

ENSP00000365883.2, ENST00000376693.3

Conserved Domains (1) summary

cd03426
Location:32 → 186

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_181843.3 → NP_862826.1 mitochondrial coenzyme A diphosphatase NUDT8 isoform 2

See identical proteins and their annotated locations for NP_862826.1

Status: VALIDATED

Description

Transcript Variant: This variant (2) retains an intron in the 3' coding region, which results in a frameshift, compared to variant 1. It encodes isoform 2, which has a shorter and distinct C-terminus, compared to isoform 1.

Source sequence(s)

AP003385, BC018644, CB140633

Consensus CDS

CCDS8174.1

UniProtKB/Swiss-Prot

Q8WV74

Related

ENSP00000301490.4, ENST00000301490.8

Conserved Domains (1) summary

cd03426
Location:32 → 137

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 ...