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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

NWD1 Gene

protein-coding GIFtS: 38
GCID: GC19P016830

NACHT and WD repeat domain containing 1

Search for NWD1
in

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
NACHT And WD Repeat Domain Containing 1¹ ²
NACHT And WD Repeat Domain-Containing Protein 1²

External Ids:	HGNC: 27619¹	Entrez Gene: 284434²	Ensembl: ENSG00000188039⁷	UniProtKB: Q149M9³

Export aliases for NWD1 gene to outside databases

Previous GC identifers: GC19P016692 GC19P016399

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

Gene Wiki entry for NWD1

(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_000019.9 NC_018930.1 NT_011295.11

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the NWD1 gene promoter:
RORalpha1 NRSF form 1 MRF-2 LCR-F1 NRSF form 2 C/EBPalpha
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: NWD1 promoter sequence

Search SABiosciences Chromatin IP Primers for NWD1

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat NWD1

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

Entrez Gene cytogenetic band: 19p13.11 Ensembl cytogenetic band: 19p13.11 HGNC cytogenetic band: 19p13.11

NWD1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
NWD1 gene location

GeneLoc information about chromosome 19 GeneLoc Exon Structure

GeneLoc location for GC19P016830: view genomic region (about GC identifiers)

Start:	16,830,787 bp from pter	End:	16,928,774 bp from pter
Size:	97,988 bases	Orientation:	plus 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: NWD1_HUMAN, Q149M9 (See protein sequence)

Recommended Name: NACHT and WD repeat domain-containing protein 1

Size: 1564 amino acids; 174552 Da

Sequence caution: Sequence=AAI17699.1; Type=Erroneous translation; Note=Wrong choice of CDS;

Secondary accessions: C9J021 Q68CT3

Alternative splicing: 3 isoforms: Q149M9-1 Q149M9-2 Q149M9-3 (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for NWD1: NX_Q149M9

Post-translational modifications:

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_Q149M9

NWD1 Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins: NP_001007526.3

ENSEMBL proteins:

ENSP00000428224 ENSP00000428579 ENSP00000447548 ENSP00000400248 ENSP00000447224

ENSP00000369136 ENSP00000340159 ENSP00000428955

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

NWD1 for domains About GeneDecksing

4 InterPro domains/families:

IPR019775 WD40_repeat_CS

IPR001680 WD40_repeat

IPR017986 WD40_repeat_dom

IPR015943 WD40/YVTN_repeat-like_dom

Graphical View of Domain Structure for InterPro Entry Q149M9

ProtoNet protein and cluster: Q149M9

UniProtKB/Swiss-Prot: NWD1_HUMAN, Q149M9

Similarity: Contains 1 NACHT domain

Similarity: Contains 13 WD repeats

(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

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

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005524	ATP binding	IEA	--

NWD1 for ontologies About GeneDecksing

1 GenomeRNAi human phenotype for NWD1:

Decreased viability of wild-ty

(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 NWD1

(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

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for NWD1
Search CenterWatch for drugs/clinical trials and news about NWD1

(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,
RNAi Products from EMD Millipore,
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Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

REFSEQ mRNAs for NWD1 gene:

NM_001007525.3

Unigene Cluster for NWD1:

NACHT and WD repeat domain containing 1

Hs.406014 [show with all ESTs]

Unigene Representative Sequence: BX648940

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

ENST00000518676(uc002net.4 uc002nev.4 uc021uqg.1) ENST00000524140(uc002neu.4)

ENST00000549814 ENST00000438489 ENST00000552788 ENST00000379808 ENST00000339803

ENST00000523826

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		hsa-miR-3607-3p hsa-miR-875-3p hsa-miR-4251 hsa-miR-3616-5p hsa-miR-3167 hsa-miR-1184 hsa-miR-661 hsa-miR-3116

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Additional cDNA sequence:

AK026798.1 AK090685.1 BC117698.1 BX648940.1 CR749794.1

5 DOTS entries:

DT.99933098 DT.121495488 DT.438207 DT.99997702 DT.99996641

24 AceView cDNA sequences:

AX746574 AK090685 BF222405 AV723620 BX648940 CR749794 AA535500 CK005202

CD104520 CA397400 BX489211 BU679185 AK026798 CD690955 CD700913 CB051361

W28929 AA627115 CB051362 AA559284 BF372371 AW973778 BU675081 BG992964

GeneLoc Exon Structure

(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

NWD1 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: AGTGACAGAG

About this image

NWD1 expression in embryonic tissues and stem cells

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

3 LifeMap In Vivo Development Anatomical Compartments/Cells

Tissue

Anatomical Compartment

Cell

Category (developmental path)

Brain

Medulla Oblongata

Brain

Neural Tube

Diencephalic Ventricular Zone

Neural Tube

Metencephalon

Neural Tube

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

See NWD1 Protein Expression from SPIRE MOPED and PaxDB
SOURCE GeneReport for Unigene cluster: Hs.406014

SABiosciences Custom PCR Arrays for NWD1

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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 common ancestor of animals.

Orthologs for NWD1 gene from 4/14 species (see all 14) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
mouse (Mus musculus)	Mammalia	Nwd1^{1 , 5}	NACHT and WD repeat domain containing 1^{1, 5}	78.61(n)¹ 77.48(a)¹		8 (35.08 cM)⁵ 319555¹ NM_176940.5¹ NP_795914.3¹ 72646711⁵
zebrafish (Danio rerio)	Actinopterygii	LOC100330908¹	NACHT and WD repeat domain-containing protein 1-like	46.67(n) 33.75(a)		100330908 XM_002663705.2 XP_002663751.2
fruit fly (Drosophila melanogaster)	Insecta	CG30116⁶	--	12(a)	possible ortholog	2R(14344467-14385516)
worm (Caenorhabditis elegans)	Secernentea	qui-1⁶	QUInine non-avoider family member (qui-1)	14(a)	possible ortholog	IV(13561849-13574395)

ENSEMBL Gene Tree for NWD1 (if available)
TreeFam Gene Tree for NWD1 (if available)

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

Paralogs for NWD1 gene

KIAA1239²

NWD1 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 19 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs12973121^1,2	C,F,A,	--	16828840(+)	`ATTGTT/CGTTGT`	1	--	us2k¹		11		NA WA CSA EA	374
rs147476006^1,2		--	16828908(+)	`GTGATA/CCTCCC`	1	--	us2k¹		0	--	--	--	--
rs148541287^1,2		--	16828959(+)	`ACTGTC/GCCTGG`	1	--	us2k¹		0	--	--	--	--
rs34165234^1,2	C	--	16828981(+)	`ACTTC-/TTTTTT`	1	--	us2k¹		2		NA CSA	4
rs190549338^1,2		--	16829024(+)	`TCTGTC/TGTCCA`	1	--	us2k¹		0	--	--	--	--
rs141254224^1,2		--	16829176(+)	`ATGGGG/TTCTCA`	1	--	us2k¹		0	--	--	--	--
rs192182742^1,2		--	16829273(+)	`GCCACC/TGCGCC`	1	--	us2k¹		0	--	--	--	--
rs150784065^1,2		--	16829373(+)	`CAGGCA/TGGAGT`	1	--	us2k¹		0	--	--	--	--
rs12986400^1,2	C,	--	16829379(+)	`ggagtA/Gcagtg`	1	--	us2k¹		2		NA	4
rs184216162^1,2		--	16829401(+)	`GCTCAC/TTGCAA`	1	--	us2k¹		0	--	--	--	--

HapMap Linkage Disequilibrium report for NWD1 (16830787 - 16928774 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV) variations for NWD1: --

SABiosciences Cancer Mutation PCR Assays

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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

NWD1 for disorders About MalaCards

NWD1 for disorders About GeneDecksing

Human Genome Epidemiology (HuGE) Navigator: NWD1 (1 document)

Export disorders for NWD1 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 NWD1 gene integrated from 9 sources:
(articles sorted by number of sources associating them with NWD1)

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

Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)¹ Rose J.E....Uhl G.R. (2010)
The full-ORF clone resource of the German cDNA consortium. (PubMed id 17974005)² Bechtel S.... Schupp I. (2007)
The DNA sequence and biology of human chromosome 19. (PubMed id 15057824)² Grimwood J.... Lucas S.M. (2004)
The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)² Gerhard D.S....Malek J. (2004)
Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)¹ Ota T.... Sugano S. (2004)
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)
Normalization and subtraction: two approaches to facilitate gene discovery. (PubMed id 8889548)¹ Bonaldo M.F.... Soares M.B. (1996)

(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: 284434	HGNC: 27619	AceView: LOC284434	Ensembl:ENSG00000188039	euGenes: HUgn284434
ECgene: NWD1	H-InvDB: NWD1

(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 NWD1	Pharmacogenomics, SNPs, Pathways

Intellectual Property for NWD1 gene
(Patent information from GeneIP, Licensable technologies from WIS Yeda, Salk, Tufts, IP news from LifeMap Sciences, Inc.)

About This Section

Patent Information for NWD1 gene:
Search GeneIP for patents involving NWD1

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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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
GIFtS Group

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

The GeneCards Human Gene Database

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

Hot genes Disease genes NWD1 gene at Home site.

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NWD1 Gene

NACHT and WD repeat domain containing 1

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NWD1 Gene

NACHT and WD repeat domain containing 1

Aliasesfor NWD1 gene

Summariesfor NWD1 gene

Genomic Viewsfor NWD1 gene

Proteinsfor NWD1 gene

Protein Domains /Familiesfor NWD1 gene

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for NWD1 gene

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for NWD1 gene

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for NWD1 gene

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for NWD1 gene

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for NWD1 gene

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for NWD1 gene

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for NWD1 gene

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for NWD1 gene

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for NWD1 gene

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for NWD1 gene

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for NWD1 gene

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for NWD1 gene

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for NWD1 gene

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for NWD1 gene

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for NWD1 gene