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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

NUDT8 Gene

protein-coding GIFtS: 45
GCID: GC11M067395

nudix (nucleoside diphosphate linked moiety X)-type motif...

Explore 4 diseases affiliated with
NUDT8 via

MalaCards

our new
Human Malady Compendium

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, and/or ¹⁰fRNAdb)
About This Section

Aliases
Nudix (Nucleoside Diphosphate Linked Moiety X)-Type Motif 8¹ ²
Nudix Motif 8² ³
FLJ41567¹
Nucleoside Diphosphate-Linked Moiety X Motif 8, Mitochondrial²
EC 3.6.1.-³

External Ids:	HGNC: 8055¹	Entrez Gene: 254552²	Ensembl: ENSG00000167799⁷	UniProtKB: Q8WV74³

Export aliases for NUDT8 gene to outside databases

Previous GC identifers: GC11U990247 GC11M067645 GC11M067170 GC11M067151 GC11M063724

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

UniProtKB/Swiss-Prot: NUDT8_HUMAN, Q8WV74

Function: Probably mediates the hydrolysis of some nucleoside diphosphate derivatives (By similarity)

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence:

NC_000011.9 NC_018922.1 NT_167190.1

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the NUDT8 gene promoter:
E47 Meis-1b GATA-1 CREB HEN1 PPAR-gamma1 COMP1 Meis-1a PPAR-gamma2 Meis-1
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: NUDT8 promoter sequence

Search SABiosciences Chromatin IP Primers for NUDT8

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat NUDT8

Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 11q13.2 Ensembl cytogenetic band: 11q13.2 HGNC cytogenetic band: 11q13.2

NUDT8 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
NUDT8 gene location

GeneLoc information about chromosome 11 GeneLoc Exon Structure

GeneLoc location for GC11M067395: view genomic region (about GC identifiers)

Start:	67,395,409 bp from pter	End:	67,397,401 bp from pter
Size:	1,993 bases	Orientation:	minus strand

(According to ¹UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to ²PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: NUDT8_HUMAN, Q8WV74 (See protein sequence)

Recommended Name: Nucleoside diphosphate-linked moiety X motif 8, mitochondrial precursor

Size: 236 amino acids; 25370 Da

Cofactor: Magnesium or manganese (By similarity)

Subcellular location: Mitochondrion (By similarity)

Secondary accessions: Q6ZW59

Alternative splicing: 2 isoforms: Q8WV74-1 Q8WV74-2 (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for NUDT8: NX_Q8WV74

Post-translational modifications:

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_Q8WV74

NUDT8 Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins (2 alternative transcripts):

NP_001230679.1 NP_862826.1

ENSEMBL proteins:

ENSP00000301490 ENSP00000365883

Human Recombinant Protein Products:

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Gene Ontology (GO): 1 cellular component term (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005739	mitochondrion	IEA	--

NUDT8 for ontologies About GeneDecksing

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(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

NUDT8 for domains About GeneDecksing

2 InterPro domains/families:

IPR015797 NUDIX_hydrolase_dom-like

IPR000086 NUDIX_hydrolase_dom

Graphical View of Domain Structure for InterPro Entry Q8WV74

ProtoNet protein and cluster: Q8WV74

1 Blocks protein family: IPB000086 NUDIX hydrolase

UniProtKB/Swiss-Prot: NUDT8_HUMAN, Q8WV74

Similarity: Belongs to the Nudix hydrolase family

Similarity: Contains 1 nudix hydrolase domain

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
About This Section

Function Summary:

UniProtKB/Swiss-Prot: NUDT8_HUMAN, Q8WV74

Function: Probably mediates the hydrolysis of some nucleoside diphosphate derivatives (By similarity)

Enzyme Number (IUBMB): EC 3.6.1.-¹

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		hsa-miR-588 hsa-miR-7 hsa-miR-646 hsa-miR-103a hsa-miR-298 hsa-miR-1286 hsa-miR-107 hsa-miR-1910

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In Situ Assay
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Gene Ontology (GO): 2 molecular function terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0016787	hydrolase activity	IEA	--
GO:0046872	metal ion binding	IEA	--

NUDT8 for ontologies About GeneDecksing

6 GenomeRNAi human phenotypes for NUDT8:

Decreased NANOG protein expres	Decreased OCT4 protein express	Decreased POU5F1-GFP protein e	Decreased nuclei size in G2M
G0/1 arrest	Increased G1 DNA content

(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to ¹UniProtKB, ²MINT, ³I2D, and/or ⁴STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
About This Section

Interactions:

Search SABiosciences Gene Network Central^TM Interacting Genes and Proteins Networks for NUDT8

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section

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Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for NUDT8

6 HMDB Compounds for NUDT8 About this table

Compound	Synonyms	CAS #	PubMed Ids
ADP	adenosindiphosphorsaeure (see all 8)	58-64-0	--
CDP	CDP (see all 3)	63-38-7	--
Guanosine diphosphate	5'-GDP (see all 10)	146-91-8	--
Magnesium	Magnesium (see all 2)	7439-95-4	--
Manganese	manganese	7439-96-5	--
dTDP	Deoxy-tdp (see all 5)	491-97-4	--

Search CenterWatch for drugs/clinical trials and news about NUDT8

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
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About This Section

REFSEQ mRNAs for NUDT8 gene (2 alternative transcripts):

NM_001243750.1 NM_181843.2

Unigene Cluster for NUDT8:

Nudix (nucleoside diphosphate linked moiety X)-type motif 8

Hs.433329 [show with all ESTs]

Unigene Representative Sequence: BE903195

3 Ensembl transcripts including schematic representations, and UCSC links where relevant:

ENST00000301490(uc001omn.3 uc001omo.2) ENST00000376693 ENST00000534054

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		hsa-miR-588 hsa-miR-7 hsa-miR-646 hsa-miR-103a hsa-miR-298 hsa-miR-1286 hsa-miR-107 hsa-miR-1910

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Additional cDNA sequence:

AK123561.1 BC018644.1

4 DOTS entries:

DT.100759756 DT.95362522 DT.92417400 DT.91704880

24/32 AceView cDNA sequences (see all 32):

CR619375 CB140633 BM986919 AK123561 BI862024 BU739108 BC018644 BE878078

BX348477 AI857666 BI820659 AI659740 NM_181843 AI743601 BM461896 CA431033

CA433544 AW003775 AL558598 AF150120 BM717290 BE903195 BF685144 BX376895

GeneLoc Exon Structure

3 Alternative Splicing Database (ASD) splice patterns (SP) for NUDT8 About this scheme

ExUns:	1a	·	1b	^	2a	·	2b	^	3	^	4
SP1:					-
SP2:					-
SP3:

ECgene alternative splicing isoforms for NUDT8

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

NUDT8 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: GACCACACCG

About this image

NUDT8 expression in embryonic tissues and stem cells

Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine About this table

Stem Cell Differentiation: 1 LifeMap Cell

Name

Category

Definitive endoderm-like cells (A scalable, suspensi...)

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

See NUDT8 Protein Expression from SPIRE MOPED and PaxDB
SOURCE GeneReport for Unigene cluster: Hs.433329

SABiosciences Custom PCR Arrays for NUDT8

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In Situ
Assay Products:

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(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD , ⁵MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or ⁶Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
About This Section

This gene was present in the last universal common ancestor (LUCA).

Orthologs for NUDT8 gene from 4/16 species (see all 16) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
zebrafish (Danio rerio)	Actinopterygii	zgc:153051⁶	zgc:153051	20(a)	1 ↔ 1	15(498736-502650)
fruit fly (Drosophila melanogaster)	Insecta	CG11095⁶	--	17(a)	1 ↔ 1	X(13705717-13706903)
worm (Caenorhabditis elegans)	Secernentea	ndx-3⁶	Nudix hydrolase 3	17(a)	1 ↔ 1	II(4953574-4954499)
E. coli (Escherichia coli)	Gamma proteobacteria	nudL⁶	predicted NUDIX hydrolase	22(a)	1 → many	Chromosome(1894194-1894772) b1813

ENSEMBL Gene Tree for NUDT8 (if available)
TreeFam Gene Tree for NUDT8 (if available)

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
About This Section

Paralogs for NUDT8 gene

NUDT7²

NUDT8 for paralogs About GeneDecksing

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section

SNP ID	Valid	Clinical significance	Chr 11 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs146612338^1,2		--	67394910(+)	`CACCCC/TCTCTG`	2	--	int¹ ds500¹		0	--	--	--	--
rs76798843^1,2	C,F,	--	67395015(+)	`ACCCAG/AGNNNN`	2	--	ds500¹ int¹		1		NA	120
rs182661049^1,2		--	67395125(+)	`AGTGCC/TTAAGA`	2	--	ds500¹ int¹		0	--	--	--	--
rs116092187^1,2	F,	--	67395238(+)	`TGTTGG/ACCCTG`	2	--	int¹ ds500¹		1		WA	118
rs141023695^1,2		--	67395355(+)	`CAGCGA/TCCTGG`	2	--	int¹ ds500¹		0	--	--	--	--
rs118032721^1,2	F,	--	67395456(+)	`GCCTGA/TCAGGG`	3	* C	stg¹ ut3¹		1		EA	120
rs187740928^1,2		--	67395518(+)	`CAGGCC/TGGCCA`	3	S G	mis¹ ut3¹		0	--	--	--	--
rs150272748^1,2	C,	--	67395527(+)	`CAGGCG/AGGGCT`	3	/R /C	ut3¹ mis¹		1		EU	535
rs56102510^1,2	C,	--	67395624(+)	`ACGGGT/CAGTGT`	3	/L	ut3¹ syn¹		2		WA	120
rs35181012^1,2	C,F,	--	67395634(+)	`TGTAGC/G/TGGAAG`	5	H P R	ut3¹ mis¹		8		NA NS CSA EU	754

HapMap Linkage Disequilibrium report for NUDT8 (67395409 - 67397401 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 2 variations for NUDT8
2 CNVs: 53128 5275

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(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
About This Section

NUDT8 for disorders About GeneDecksing

4 diseases for NUDT8: About MalaCards

intrahepatic cholangiocarcinoma cholangiocarcinoma tuberculosis mycobacterium tuberculosis

Human Genome Epidemiology (HuGE) Navigator: NUDT8 (1 document)

Export disorders for NUDT8 gene to outside databases

(in PubMed. Associations of this gene to articles via ¹Entrez Gene, ²UniProtKB/Swiss-Prot, ³HGNC, ⁴GAD, ⁵PharmGKB, ⁶HMDB, ⁷DrugBank, ⁸UniProtKB/TrEMBL, ⁹ Novoseek, and/or ¹⁰fRNAdb)
About This Section

PubMed articles for NUDT8 gene integrated from 9 sources:
(articles sorted by number of sources associating them with NUDT8)

Utopia: connect your pdf to the dynamic
world of online information

The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)^{1, 2} Gerhard D.S....Malek J. (2004)
Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)^{1, 2} Ota T.... Sugano S. (2004)
The mouse Nudt7 gene encodes a peroxisomal nudix hydrolase specific for coenzyme A and its derivatives. (PubMed id 11415433)^{1, 3} Gasmi L. and McLennan A.G. (2001)
Genetic variants in nuclear-encoded mitochondrial gen es influence AIDS progression. (PubMed id 20877624)¹ Hendrickson S.L....O'Brien S.J. (2010)
Identification of intrahepatic cholangiocarcinoma related genes by comparison with normal liver tissues using expressed sequence tags. (PubMed id 16712791)¹ Wang A.G....Kim N.S. (2006)
Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)¹ Strausberg R.L....Marra M.A. (2002)

(in PubMed, OMIM, and NCBI Bookshelf)
About This Section

		AND	OR
Aliases
Free Text

Query String		PubMed OMIM NCBI Bookshelf
	(Note: In FireFox, select the above section and copy using Ctrl-C)

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
About This Section

Entrez Gene: 254552	HGNC: 8055	AceView: NUDT8	Ensembl:ENSG00000167799	euGenes: HUgn254552
ECgene: NUDT8	H-InvDB: NUDT8

(According to HUGE)
About This Section

(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section

Name	Description
PharmGKB entry for NUDT8	Pharmacogenomics, SNPs, Pathways

Intellectual Property for NUDT8 gene
(Patent information from GeneIP, Licensable technologies from WIS Yeda, Salk, Tufts, IP news from LifeMap Sciences, Inc.)

About This Section

Patent Information for NUDT8 gene:
Search GeneIP for patents involving NUDT8

GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search

(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences),
In Situ Hybridization Assays from
Advanced Cell Diagnostics
About This Section


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	OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for NUDT8		OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for NUDT8
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	OriGene Custom Antibody Services for NUDT8		OriGene Custom Protein Services for NUDT8
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	QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat NUDT8
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	QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat NUDT8
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	GenScript Custom Purified and Recombinant Proteins Services for NUDT8		GenScript cDNA clones with any tag delivered in your preferred vector for NUDT8
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	Gene Mutant Library, Variants up to 10^11		Plasmid Preparation
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Search www.enzolifesciences.com for proteins, assays, substrates, inhibitors & antibodies

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	SwitchGear 3'UTR luciferase reporter plasmids for NUDT8
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ThermoFisher Antibody for NUDT8

Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat NUDT8

GeneCards Homepage - Last full update: 18 Mar 2013 - Incrementals: 21 Mar 2013 , 15 Apr 2013 , 26 Apr 2013

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Category			VWF (GIFTS: 73) von Willebrand factor
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The GeneCards human gene database gene index: 1 3 5 6 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

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Developed at the Crown Human Genome Center, Department of Molecular Genetics, the Weizmann Institute of Science

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NUDT8 Gene

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