NUDT4B nudix hydrolase 4B [Homo sapiens (human)] - Gene

Summary

Official Symbol: NUDT4Bprovided by HGNC
Official Full Name: nudix hydrolase 4Bprovided by HGNC
Primary source: HGNC:HGNC:18012
See related: Ensembl:ENSG00000177144 AllianceGenome:HGNC:18012
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: DIPP-2B; NUDT4P1
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Genomic context

Location:: 1q21.2

Exon count:: 1

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	1	NC_000001.11 (148748774..148752415)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	1	NC_060925.1 (145415602..145419221)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	1 (PATCHES)	NW_003871055.3 (5564187..5567828)

Chromosome 1 - NC_000001.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Submit: New GeneRIF Correction

Phenotypes

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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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Markers

D11S2560 (e-PCR)
- UniSTS:37928

RH66999 (e-PCR)
- UniSTS:86319

D8S2279 (e-PCR)
- UniSTS:473907

D15S1477 (e-PCR)
- UniSTS:474482

RH69482 (e-PCR)
- UniSTS:32402

G32320 (e-PCR)
- UniSTS:116913

RH44622 (e-PCR)
- UniSTS:42444

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables RNA binding	IEA Inferred from Electronic Annotation more info
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 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
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 NUDT4B

Names: nucleoside diphosphate-linked moiety X motif 4B; nudix (nucleoside diphosphate linked moiety X)-type motif 4 pseudogene 1; nudix motif 4B

NP_001342336.1

EC 3.6.1.52

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_001355407.2 → NP_001342336.1 diphosphoinositol polyphosphate phosphohydrolase NUDT4B

Status: VALIDATED

Source sequence(s)

AC245389

Consensus CDS

CCDS86013.1

UniProtKB/Swiss-Prot

A0A024RBG1

UniProtKB/TrEMBL

B2RE29

Related

ENSP00000492425.1, ENST00000322209.5

Conserved Domains (1) summary

cd04666
Location:19 → 138

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 ...