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NTAN1 Gene

protein-coding GIFtS: 55
GCID: GC16M015131

N-Terminal Asparagine Amidase

See related diseases
at

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(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, ¹⁰fRNAdb, ¹²H-InvDB, ¹³NCBI, ¹⁴NONCODE, and/or ¹⁵RNAdb)
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Aliases
N-Terminal Asparagine Amidase¹ ²		PNAA² ³
Protein N-Terminal Asn Amidase² ³		PNAD² ³
Protein N-Terminal Asparagine Amidase² ³		Protein N-Terminal Asparagine Amidohydrolase²
Protein NH2-Terminal Asparagine Deamidase² ³		EC 3.5.1.-³
Protein NTN-Amidase² ³		Protein NH2-Terminal Asparagine Amidohydrolase³

External Ids:	HGNC: 29909¹	Entrez Gene: 123803²	Ensembl: ENSG00000157045⁷	OMIM: 615367⁵	UniProtKB: Q96AB6³

Export aliases for NTAN1 gene to outside databases

Previous GC identifers: GC16M015098 GC16M015039 GC16M014776

(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for NTAN1 Gene:

The protein encoded by this gene functions in a step-wise process of protein degradation through the N-end rule

pathway. This protein acts as a tertiary destabilizing enzyme that deamidates N-terminal L-Asn residues on

proteins to produce N-terminal L-Asp. L-Asp substrates are subsequently conjugated to L-Arg, which is recognized

by specific E3 ubiquitin ligases and targeted to the proteasome. Pseudogenes of this gene are located on the long

arms of chromosomes 8, 10 and 12. Alternative splicing results in multiple transcript variants that encode

different protein isoforms. (provided by RefSeq, Jul 2012)

GeneCards Summary for NTAN1 Gene:

NTAN1 (N-terminal asparagine amidase) is a protein-coding gene. Diseases associated with NTAN1 include secondary progressive multiple sclerosis, and tonsillitis. GO annotations related to this gene include protein-N-terminal asparagine amidohydrolase activity.

UniProtKB/Swiss-Prot: NTAN1_HUMAN, Q96AB6

Function: Side-chain deamidation of N-terminal asparagine residues to aspartate. Required for the

ubiquitin-dependent turnover of intracellular proteins that initiate with Met-Asn. These proteins are acetylated

on the retained initiator methionine and can subsequently be modified by the removal of N-acetyl methionine by

acylaminoacid hydrolase (AAH). Conversion of the resulting N-terminal asparagine to aspartate by PNAD renders the

protein susceptible to arginylation, polyubiquitination and degradation as specified by the N-end rule. This

enzyme does not act on substrates with internal or C-terminal asparagines and does not act on glutamine residues

in any position (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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:

NC_000016.10 NC_018927.2 NT_010393.17 NT_187607.1

Regulatory elements:

Regulatory transcription factor binding sites in the NTAN1 gene promoter:
TBP RREB-1 Pax-2 Pax-2a STAT5A Tal-1beta Nkx6-1 Pax-2b TFIID ITF-2
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: NTAN1 promoter sequence

Search Chromatin IP Primers for NTAN1

Epigenetics:

DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat NTAN1

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

Entrez Gene cytogenetic band: 16p13.11 Ensembl cytogenetic band: 16p13.11 HGNC cytogenetic band: 16p13

NTAN1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
NTAN1 gene location

GeneLoc information about chromosome 16 GeneLoc Exon Structure

GeneLoc location for GC16M015131: view genomic region (about GC identifiers)

Start:	15,131,710 bp from pter	End:	15,149,921 bp from pter
Size:	18,212 bases	Orientation:	minus strand

(According to ¹UniProtKB, HORDE, ²neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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 Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: NTAN1_HUMAN, Q96AB6 (See protein sequence)

Recommended Name: Protein N-terminal asparagine amidohydrolase

Size: 310 amino acids; 34677 Da

Subunit: Monomer (By similarity)

Explore the universe of human proteins at neXtProt for NTAN1: NX_Q96AB6

Explore proteomics data for NTAN1 at MOPED

Post-translational modifications:

Modification sites at neXtProt

Modification sites at PhosphoSitePlus

See NTAN1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

REFSEQ proteins (3 alternative transcripts):

NP_001257695.1 NP_001257696.1 NP_775745.1

ENSEMBL proteins:

ENSP00000287706 ENSP00000457467 ENSP00000454595 ENSP00000455396 ENSP00000454883

ENSP00000456142

NTAN1 Human Recombinant Protein Products:

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	Novus Biologicals NTAN1 Protein Novus Biologicals NTAN1 Lysates
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	Cloud-Clone Corp. Proteins for NTAN1

NTAN1 Antibody Products:

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	Novus Biologicals NTAN1 Antibodies
	Abcam antibodies for NTAN1
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	ThermoFisher Antibodies for NTAN1
	LSBio Antibodies in human, mouse, rat for NTAN1

NTAN1 Assay Products:

	Browse Kits and Assays available from EMD Millipore
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	GenScript Custom Assay Services for NTAN1
	Browse Enzo Life Sciences for kits & assays
	Cloud-Clone Corp. ELISAs for NTAN1 Cloud-Clone Corp. CLIAs for NTAN1

(According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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1 InterPro protein domain:

IPR026750 NTAN1

Graphical View of Domain Structure for InterPro Entry Q96AB6

ProtoNet protein and cluster: Q96AB6

NTAN1 for domains About GeneDecksing

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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Molecular Function:

UniProtKB/Swiss-Prot Summary: NTAN1_HUMAN, Q96AB6

Function: Side-chain deamidation of N-terminal asparagine residues to aspartate. Required for the

ubiquitin-dependent turnover of intracellular proteins that initiate with Met-Asn. These proteins are acetylated

on the retained initiator methionine and can subsequently be modified by the removal of N-acetyl methionine by

acylaminoacid hydrolase (AAH). Conversion of the resulting N-terminal asparagine to aspartate by PNAD renders the

protein susceptible to arginylation, polyubiquitination and degradation as specified by the N-end rule. This

enzyme does not act on substrates with internal or C-terminal asparagines and does not act on glutamine residues

in any position (By similarity)

Enzyme Number (IUBMB): EC 3.5.1.-¹

Gene Ontology (GO): 1 molecular function term: About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0008418	protein-N-terminal asparagine amidohydrolase activity	IEA	--

NTAN1 for ontologies About GeneDecksing

Phenotypes:
6 MGI mutant phenotypes (inferred from 1 allele) (MGI details for Ntan1):

behavior/neurological	cellular	growth/size/body	hematopoietic system	immune system
mortality/aging

NTAN1 for phenotypes About GeneDecksing

Animal Models:
MGI mouse knock-out Ntan1^tm1Avar for NTAN1

inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for NTAN1

inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for NTAN1

genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for NTAN1

genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for NTAN1

miRNA Products:		miRTarBase miRNAs that target NTAN1: hsa-mir-100-5p (MIRT048539)

		Block miRNA regulation of human, mouse, rat NTAN1 using miScript Target Protectors
		2 qRT-PCR Assays for microRNAs that regulate NTAN1:
		hsa-miR-9 hsa-miR-192*
		SwitchGear 3'UTR luciferase reporter plasmid: NTAN1 3' UTR sequence

Inhib. RNA Products:		OriGene RNAi products in human, mouse, rat for NTAN1
		Predesigned siRNA for gene silencing in human, mouse, rat NTAN1

Gene Editing
Products:

DNA2.0 Custom Protein Engineering Service for NTAN1

Clone Products:		OriGene clones in human, mouse for NTAN1 (see all 6) OriGene ORF clones in mouse, rat for NTAN1 OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
		GenScript: all cDNA clones in your preferred vector: NTAN1 (NM_173474)
		Sino Biological Human cDNA Clone for NTAN1
		DNA2.0 Custom Codon Optimized Gene Synthesis Service for NTAN1
		Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat NTAN1

Cell Line Products:		GenScript Custom overexpressing Cell Line Services for NTAN1
		Browse ESI BIO Cell Lines and PureStem Progenitors for NTAN1

In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for NTAN1

(According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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Subcellular locations from UniProtKB/Swiss-Prot

NTAN1_HUMAN, Q96AB6: Cytoplasm (By similarity)

Subcellular locations from COMPARTMENTS:

Compartment	Confidence
cytosol	3
nucleus	2
extracellular	1

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Gene Ontology (GO): 2 cellular component terms: About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005634	nucleus	IEA	--
GO:0005737	cytoplasm	IEA	--

NTAN1 for ontologies About GeneDecksing

(SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, 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 Apr 2014 via Entrez Gene).
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Custom Pathway & Disease-focused RT² Profiler PCR Arrays for NTAN1
Interactions:

Search GeneGlobe Interaction Network for NTAN1

STRING Interaction Network Preview (showing 5 interactants - click image to see more details)

Selected Interacting proteins for NTAN1 (Q96AB6³ ENSP00000287706⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 10)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
AKT3	Q9Y243³	I2D: score=2
ARHGAP1	Q07960³	I2D: score=2
CCNA1	P78396³	I2D: score=2
PLD3	Q8IV08³	I2D: score=2
SIRT2	Q8IXJ6³	I2D: score=1

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Gene Ontology (GO): 2 biological process terms: About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0007613	memory	IEA	--
GO:0008344	adult locomotory behavior	IEA	--

NTAN1 for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse compounds at ApexBio

Browse Tocris compounds for NTAN1

1 Novoseek inferred chemical compound relationship for NTAN1 gene About this table

Compound	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
rantes	35.3	2	12537753 (1), 9862717 (1)

NTAN1 for compounds About GeneDecksing

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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REFSEQ mRNAs for NTAN1 gene (3 alternative transcripts):

NM_001270766.1 NM_001270767.1 NM_173474.3

Unigene Cluster for NTAN1:

N-terminal asparagine amidase

Hs.592045 [show with all ESTs]

Unigene Representative Sequence: NM_173474

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

ENST00000287706(uc002ddd.3 uc010uzo.2) ENST00000566542 ENST00000565187

ENST00000568738 ENST00000568320 ENST00000566419 ENST00000570292 ENST00000563940

ENST00000567030 ENST00000567420

miRNA Products:		Block miRNA regulation of human, mouse, rat NTAN1 using miScript Target Protectors
		2 qRT-PCR Assays for microRNAs that regulate NTAN1:
		hsa-miR-9 hsa-miR-192*
		SwitchGear 3'UTR luciferase reporter plasmid: NTAN1 3' UTR sequence

Inhib. RNA Products:		OriGene RNAi products in human, mouse, rat for NTAN1
		Predesigned siRNA for gene silencing in human, mouse, rat NTAN1

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		GenScript: all cDNA clones in your preferred vector: NTAN1 (NM_173474)
		DNA2.0 Custom Codon Optimized Gene Synthesis Service for NTAN1
		Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat NTAN1

Primer Products:		OriGene qPCR primer pairs and template standards for NTAN1 OriGene qSTAR qPCR primer pairs in human, mouse for NTAN1
		Pre-validated RT² qPCR Primer Assay in human, mouse, rat NTAN1
		QuantiTect SYBR Green Assays in human, mouse, rat NTAN1
		QuantiFast Probe-based Assays in human, mouse, rat NTAN1

Additional mRNA sequence:

AF092440.1 BC017336.2

14 DOTS entries:

DT.101985690 DT.448248 DT.95171940 DT.102842087 DT.100663477 DT.120692166 DT.95171942 DT.97857169

DT.100638061 DT.100652519 DT.100754485 DT.87046049 DT.91703572 DT.95238224

Selected AceView cDNA sequences (see all 160):

BQ000125 C05835 BM994609 BF939373 BU630465 NM_173474 AA745642 BQ877974

AI888718 BU618217 BM762529 BF940446 BQ675078 BQ003295 BQ671233 BQ672128

CA335071 BE676088 BM553442 CD675020 AA715017 AL833023 AI338138 BQ880919

GeneLoc Exon Structure

3 Alternative Splicing Database (ASD) splice patterns (SP) for NTAN1 About this scheme

ExUns:	1	^	2	^	3	^	4a	·	4b	·	4c	^	5	^	6	^	7	^	8	^	9	^	10a	·	10b
SP1:											-
SP2:											-		-
SP3:

ECgene alternative splicing isoforms for NTAN1

(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™, Protein expression images according to data from SPIRE ¹MOPED, ²PaxDb, and ³MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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NTAN1 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS <intensity>^2/3
CGAP TAG: AATTACCAAA

About this image

NTAN1 expression in embryonic tissues and stem cells About this table

Data from LifeMap, the Embryonic Development and Stem Cells Database
selected tissues (see all 3) fully expand


Gut Tube (Gastrointestinal Tract)
Foregut

Neural Tube (Nervous System)
Telencephalon

Brain (Nervous System)
Cerebral Cortex

NTAN1 Protein expression data from MOPED¹, PaxDb² and MaxQB³:

About this image

NTAN1 Protein Expression

SOURCE GeneReport for Unigene cluster: Hs.592045

Custom PCR Arrays for NTAN1

Primer Products:		OriGene qPCR primer pairs and template standards for NTAN1 OriGene qSTAR qPCR primer pairs in human, mouse for NTAN1
		Pre-validated RT² qPCR Primer Assay in human, mouse, rat NTAN1
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		QuantiFast Probe-based Assays in human, mouse, rat NTAN1

In Situ
Assay Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for NTAN1

(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)
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This gene was present in the common ancestor of eukaryotes.

Orthologs for NTAN1 gene from Selected species (see all 16) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
mouse (Mus musculus)	Mammalia	Ntan1^{1 , 5}	N-terminal Asn amidase^{1, 5}	89.25(n)¹ 92.26(a)¹		16 (9.64 cM)⁵ 18203¹ NM_010946.3¹ NP_035076.1¹ 13819251⁵
chicken (Gallus gallus)	Aves	NTAN1¹	N-terminal asparagine amidase	71.23(n) 69.06(a)		768445 XM_001231312.3 XP_001231313.2
lizard (Anolis carolinensis)	Reptilia	NTAN1⁶	N-terminal asparagine amidase	63(a)	1 ↔ 1	GL343580.1(79305-99724)
tropical clawed frog (Xenopus tropicalis)	Amphibia	Str.2432²	Transcribed sequence with weak similarity to protein more	75.45(n)		AL868905.2
zebrafish (Danio rerio)	Actinopterygii	zgc77869²	hypothetical protein MGC77869	72.26(n)		393824 BC062529.1
fruit fly (Drosophila melanogaster)	Insecta	SP2637¹	SP2637	47.21(n) 39.25(a)		37147 NM_137511.3 NP_611355.2
thale cress (Arabidopsis thaliana)	eudicotyledons	AT2G44420¹	AT2G44420	45.98(n) 32.81(a)		819049 NM_130005.2 NP_566017.1

ENSEMBL Gene Tree for NTAN1 (if available)
TreeFam Gene Tree for NTAN1 (if available)

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
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Paralogs for NTAN1 gene

1 SIMAP similar gene for NTAN1 using alignment to 6 protein entries: NTAN1_HUMAN (see all proteins):

DKFZp666E058

NTAN1 for paralogs About GeneDecksing

3 Pseudogenes.org Pseudogenes for NTAN1
PGOHUM00000238631 PGOHUM00000262198 PGOHUM00000249419

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, ⁴UniProtKB, 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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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SNP ID	Valid	Clinical significance	Chr 16 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs34805414^1,2	C	--	15092228(+)	`CTAGC-/T/TT TTTTT`	3	--	int¹		2		NA	4
rs149356283^1,2	C	--	15132079(+)	`ACACAA/CGATGG`	3	--	int¹		0	--	--	--	--
rs2740^1,2	C,F,H	--	15132108(-)	`GACAGT/CAAGGT`	3	--	int¹		25		MN NA NS EA CSA WA	2680
rs184422836^1,2	C	--	15132111(+)	`TTACTA/GTCCCC`	3	--	int¹		0	--	--	--	--
rs111536178^1,2	C	--	15132211(+)	`AGAAAAAAG TTG/-AAAGT`	3	--	int¹		1		CSA	2
rs61043180^1,2	C	--	15132212(+)	`GTTGA-/AAAGTT G/AAGTTGATTGCT`	3	--	int¹		0	--	--	--	--
rs201658549^1,2		--	15132236(+)	`TTTAC-/CCACA CACATTTCCATC`	3	--	int¹		0	--	--	--	--
rs144693321^1,2		--	15132303(+)	`TGTCAA/TTGGCA`	3	--	int¹		0	--	--	--	--
rs4985153^1,2	C,F,H	--	15132364(-)	`aAAAAA/GAGGGT`	3	--	int¹ trp³		8		NS EA NA	1002
rs148082088^1,2		--	15132372(+)	`TTTCTA/TACAGA`	3	--	int¹		0	--	--	--	--

HapMap Linkage Disequilibrium report for NTAN1 (15131710 - 15149921 bp)

Structural Variations
Database of Genomic Variants (DGV) Selected variations for NTAN1 (see all 19): About this table

Variant ID	Type	Subtype	PubMed ID
nsv509598	CNV	Insertion	20534489
dgv2606n71	CNV	Loss	21882294
dgv344n27	CNV	Loss	19166990
dgv2608n71	CNV	Loss	21882294
nsv905369	CNV	Loss	21882294
nsv905374	CNV	Gain	21882294
nsv905380	CNV	Gain	21882294
dgv2607n71	CNV	Gain	21882294
nsv905361	CNV	Gain	21882294
nsv457426	CNV	Gain	19166990

Human Gene Mutation Database (HGMD): NTAN1

Site Specific Mutation Identification with PCR Assays

SeqTarget long-range PCR primers for resequencing NTAN1

DNA2.0 Custom Variant and Variant Library Synthesis for NTAN1

(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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OMIM gene information: 615367 OMIM disorders: --

17 diseases for NTAN1:
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secondary progressive multiple sclerosis tonsillitis dyslexia ulcerative colitis

meningitis lymphoblastic leukemia inflammatory bowel disease endotheliitis

type 1 diabetes arthritis multiple sclerosis schizophrenia

hypertension rheumatoid arthritis malaria leukemia

cerebritis

1 disease from the University of Copenhagen DISEASES database for NTAN1:

Dyslexia

NTAN1 for disorders About GeneDecksing

2 Novoseek inferred disease relationships for NTAN1 gene About this table

Disease	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
inflammation	31.2	7	15591109 (2), 8256856 (1), 16772045 (1), 11592062 (1)
arthritis	7.33	5	16772045 (3)

Genetic Association Database (GAD): NTAN1
Human Genome Epidemiology (HuGE) Navigator: NTAN1 (2 documents)

Export disorders for NTAN1 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)
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PubMed articles for NTAN1 gene, integrated from 10 sources (see all 46):
(articles sorted by number of sources associating them with NTAN1)

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Genome-wide association study identifies novel loci associated with circulating phospho- and sphingolipid concentrations. (PubMed id 22359512)^{1, 4} Demirkan A....Schmitz G. (PLoS Genet. 2012)
Genome-wide association study identifies multiple loci influencing human serum metabolite levels. (PubMed id 22286219)^{1, 4} Kettunen J....Ripatti S. (Nat. Genet. 2012)
Copy number variations of chromosome 16p13.1 region associated with schizophrenia. (PubMed id 19786961)^{1, 4} Ingason A....St Clair D.M. (Mol. Psychiatry 2011)
A genome-wide association study in 19 633 Japanese subjects identified LHX3-QSOX2 and IGF1 as adult height loci. (PubMed id 20189936)^{1, 4} Okada Y....Kamatani N. (Hum. Mol. Genet. 2010)
Genetic predictors of glucocorticoid-induced hypertension in children with acute lymphoblastic leukemia. (PubMed id 18496130)^{1, 4} Kamdem L.K....Relling M.V. (Pharmacogenet. Genomics 2008)
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. (Genome Res. 2004)
Genome-wide meta-analysis identifies 56 bone mineral density loci and reveals 14 loci associated with risk of fracture. (PubMed id 22504420)¹ Estrada K....Rivadeneira F. (Nat. Genet. 2012)
Expression and biochemical characterization of the human enzyme N-terminal asparagine amidohydrolase. (PubMed id 21375249)¹ Cantor J.R....Georgiou G. (Biochemistry 2011)
Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)¹ Ota T.... Sugano S. (Nat. Genet. 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. (Proc. Natl. Acad. Sci. U.S.A. 2002)

(in PubMed, OMIM, and NCBI Bookshelf)
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(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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Entrez Gene: 123803	HGNC: 29909	AceView: NTAN1	Ensembl:ENSG00000157045	euGenes: HUgn123803
ECgene: NTAN1	H-InvDB: NTAN1

(According to HUGE)
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(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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Name	Description
PharmGKB entry for NTAN1	Pharmacogenomics, SNPs, Pathways

Intellectual Property for NTAN1 gene
(Patent information from GeneIP, Licensable technologies from WIS Yeda, Salk, Tufts, IP news from LifeMap Sciences, Inc.)

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Patent Information for NTAN1 gene:
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