NUDT11 nudix hydrolase 11 [Homo sapiens (human)] - Gene

Summary

Official Symbol: NUDT11provided by HGNC
Official Full Name: nudix hydrolase 11provided by HGNC
Primary source: HGNC:HGNC:18011
See related: Ensembl:ENSG00000196368 MIM:300528; AllianceGenome:HGNC:18011
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: APS1; ASP1; DIPP3b; DIPP3beta; hDIPP3beta
Summary: NUDT11 belongs to a subgroup of phosphohydrolases that preferentially attack diphosphoinositol polyphosphates (Hidaka et al., 2002 [PubMed 12105228]).[supplied by OMIM, Mar 2008]
Expression: Biased expression in testis (RPKM 29.1), brain (RPKM 16.8) and 4 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: Xp11.22

Exon count:: 2

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	X	NC_000023.11 (51490011..51496592, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	X	NC_060947.1 (50761304..50767871, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	X	NC_000023.10 (51232863..51239444, complement)

Chromosome X - NC_000023.11 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?

NUDT11, HNF1B, and SLC22A3 genes have roles in prostate cancer pathogenesis
Title: Genetic and functional analyses implicate the NUDT11, HNF1B, and SLC22A3 genes in prostate cancer pathogenesis.
Observational study of gene-disease association. (HuGE Navigator)
Title: Validation of genome-wide prostate cancer associations in men of African descent.
The NUDT11 gene, located on chromosome X, is preferentially expressed in the testis
Title: An adjacent pair of human NUDT genes on chromosome X are preferentially expressed in testis and encode two new isoforms of diphosphoinositol polyphosphate phosphohydrolase.
Cloning and characterisation of NUDT11 as a diadenosine polyphosphate-metabolising Nudix hydrolase.
Title: Cloning and characterisation of hAps1 and hAps2, human diadenosine polyphosphate-metabolising Nudix hydrolases.

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Phenotypes

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Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
Common sequence variants on 2p15 and Xp11.22 confer susceptibility to prostate cancer. EBI GWAS Catalog EBI GWAS CatalogPubMed
Multiple newly identified loci associated with prostate cancer susceptibility. 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)

HIV-1 interactions

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Replication interactions

Interaction	Pubs
Knockdown of nudix (nucleoside diphosphate linked moiety X)-type motif 11 (NUDT11) by siRNA inhibits the early stages of HIV-1 replication in 293T cells infected with VSV-G pseudotyped HIV-1	PubMed

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Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

WI-21118 (e-PCR)
- UniSTS:36358

NUDT11 (e-PCR)
- UniSTS:498188

RH91954 (e-PCR)
- UniSTS:92260

A005Q38 (e-PCR)
- UniSTS:76674

G32273 (e-PCR)
- UniSTS:116871

G15138 (e-PCR)
- UniSTS:3323

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables bis(5'-adenosyl)-hexaphosphatase activity	IBA Inferred from Biological aspect of Ancestor more info
enables bis(5'-adenosyl)-pentaphosphatase activity	IBA Inferred from Biological aspect of Ancestor more info
enables diphosphoinositol-polyphosphate diphosphatase activity	IBA Inferred from Biological aspect of Ancestor more info
enables diphosphoinositol-polyphosphate diphosphatase activity	ISS Inferred from Sequence or Structural Similarity more info
enables endopolyphosphatase activity	IBA Inferred from Biological aspect of Ancestor more info
enables metal ion binding	IEA Inferred from Electronic Annotation more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in adenosine 5'-(hexahydrogen pentaphosphate) catabolic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in diadenosine hexaphosphate catabolic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in diadenosine pentaphosphate catabolic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in diphosphoinositol polyphosphate metabolic process	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info
located_in cytosol	IDA Inferred from Direct Assay more info
located_in cytosol	TAS Traceable Author Statement more info
is_active_in nucleus	IBA Inferred from Biological aspect of Ancestor more info

General protein information

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Preferred Names: diphosphoinositol polyphosphate phosphohydrolase 3-beta

Names: DIPP-3-beta; DIPP3-beta; diadenosine 5',5'''-P1,P6-hexaphosphate hydrolase 3-beta; diadenosine hexaphosphate hydrolase (AMP-forming); diphosphoinositol polyphosphate phosphohydrolase 3, beta; hAps1; nucleoside diphosphate-linked moiety X motif 11; nudix (nucleoside diphosphate linked moiety X)-type motif 11; nudix motif 11

NP_060629.2

EC 3.6.1.52

EC 3.6.1.60

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_018159.4 → NP_060629.2 diphosphoinositol polyphosphate phosphohydrolase 3-beta

See identical proteins and their annotated locations for NP_060629.2

Status: VALIDATED

Source sequence(s)

AL158055, BC009942, BX419815

Consensus CDS

CCDS43952.1

UniProtKB/Swiss-Prot

Q96G61, Q9NVN0

UniProtKB/TrEMBL

B2RE29

Related

ENSP00000365160.3, ENST00000375992.4

Conserved Domains (1) summary

cd04666
Location:18 → 137

Nudix_Hydrolase_9; 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 ...