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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

NPL Gene

protein-coding GIFtS: 55
GCID: GC01P182758

N-acetylneuraminate pyruvate lyase (dihydrodipicolinate...

(Previous name: chromosome 1 open reading frame 13 )
(Previous symbol: C1orf13)

Explore 10 diseases affiliated with
NPL 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
N-Acetylneuraminate Pyruvate Lyase (Dihydrodipicolinate Synthase)¹ ²		DHDPS1¹
C1orf13¹ ² ³ ⁵		Chromosome 1 Open Reading Frame 13¹
NPL1¹ ²		NAL²
Sialate-Pyruvate Lyase² ³		Dihydrodipicolinate Synthetase Homolog 1²
Sialic Acid Aldolase² ³		N-Acetylneuraminate Lyase²
NALase² ³		N-Acetylneuraminate Pyruvate-Lyase³
N-Acetylneuraminic Acid Aldolase² ³		Sialate Lyase³
EC 4.1.3.3³ ⁸		Sialic Acid Lyase³
C112² ⁵

External Ids:	HGNC: 16781¹	Entrez Gene: 80896²	Ensembl: ENSG00000135838⁷	OMIM: 611412⁵	UniProtKB: Q9BXD5³

Export aliases for NPL gene to outside databases

Previous GC identifers: GC01P179278 GC01P180000 GC01P179493 GC01P181025 GC01P153997

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

Entrez Gene summary for NPL:

This gene encodes a member of the N-acetylneuraminate lyase sub-family of (beta/alpha)(8)-barrel enzymes.

N-acetylneuraminate lyases regulate cellular concentrations of N-acetyl-neuraminic acid (sialic acid) by mediating the

reversible conversion of sialic acid into N-acetylmannosamine and pyruvate. A pseudogene of this gene is located on

the short arm of chromosome 2. Alternatively spliced transcript variants encoding multiple isoforms have been observed

for this gene. (provided by RefSeq, Jan 2011)

UniProtKB/Swiss-Prot: NPL_HUMAN, Q9BXD5

Function: Catalyzes the cleavage of N-acetylneuraminic acid (sialic acid) to form pyruvate and N-acetylmannosamine via

a Schiff base intermediate. It prevents sialic acids from being recycled and returning to the cell surface. Involved

in the N-glycolylneuraminic acid (Neu5Gc) degradation pathway. Although human is not able to catalyze formation of

Neu5Gc due to the inactive CMAHP enzyme, Neu5Gc is present in food and must be degraded (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_000001.10 NC_018912.1 NT_004487.19

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the NPL gene promoter:
c-Fos AML1a AP-1 S8 c-Rel FOXO4 c-Jun Msx-1
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: NPL promoter sequence

Search SABiosciences Chromatin IP Primers for NPL

Epigenetics:

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

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

Entrez Gene cytogenetic band: 1q25 Ensembl cytogenetic band: 1q25.3 HGNC cytogenetic band: 1q25

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

GeneLoc information about chromosome 1 GeneLoc Exon Structure

GeneLoc location for GC01P182758: view genomic region (about GC identifiers)

Start:	182,758,428 bp from pter	End:	182,799,519 bp from pter
Size:	41,092 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: NPL_HUMAN, Q9BXD5 (See protein sequence)

Recommended Name: N-acetylneuraminate lyase

Size: 320 amino acids; 35163 Da

Subunit: Homotetramer (By similarity)

Subcellular location: Cytoplasm (By similarity)

Sequence caution: Sequence=BC042003; Type=Frameshift; Positions=213;

Secondary accessions: B2R839 Q4G0Q8 Q4G0Z2 Q64L88 Q6PEL0

Alternative splicing: 5 isoforms: Q9BXD5-1 Q9BXD5-2 Q9BXD5-3 Q9BXD5-4 Q9BXD5-5 (No experimental confirmation available. May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay)

Explore the universe of human proteins at neXtProt for NPL: NX_Q9BXD5

Post-translational modifications:

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_Q9BXD5

4/6 DME Specific Peptides for NPL (Q9BXD5) (see all 6)

PMGPPRLPL

KFSDTDLLD

GAVGSTYNYLG

AEAKLKSLDFLS

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

REFSEQ proteins (5 alternative transcripts):

NP_001186979.1 NP_001186980.1 NP_001186981.1 NP_001186985.1 NP_110396.1

ENSEMBL proteins:

ENSP00000356526 ENSP00000356524 ENSP00000356523 ENSP00000258317 ENSP00000356521

ENSP00000356525

Human Recombinant Protein Products for NPL:

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	Browse Sino Biological Recombinant Proteins
	ProSpec Recombinant Protein for NPL
	Uscn Proteins for NPL

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:0005737	cytoplasm	IEA	--

NPL for ontologies About GeneDecksing

NPL Antibody Products:

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	Uscn ELISAs and CLIAs for NPL

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

NPL for domains About GeneDecksing

2 InterPro domains/families:

IPR013785 Aldolase_TIM

IPR002220 Dihydrodipicolinate_synth-like

Graphical View of Domain Structure for InterPro Entry Q9BXD5

ProtoNet protein and cluster: Q9BXD5

1 Blocks protein family: IPB002220 Dihydrodipicolinate synthetase

UniProtKB/Swiss-Prot: NPL_HUMAN, Q9BXD5

Similarity: Belongs to the DapA family. NanA subfamily

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

Molecular Function:

UniProtKB/Swiss-Prot Summary: NPL_HUMAN, Q9BXD5

Function: Catalyzes the cleavage of N-acetylneuraminic acid (sialic acid) to form pyruvate and N-acetylmannosamine via

a Schiff base intermediate. It prevents sialic acids from being recycled and returning to the cell surface. Involved

in the N-glycolylneuraminic acid (Neu5Gc) degradation pathway. Although human is not able to catalyze formation of

Neu5Gc due to the inactive CMAHP enzyme, Neu5Gc is present in food and must be degraded (By similarity)

Catalytic activity: N-acetylneuraminate = N-acetyl-D-mannosamine + pyruvate

Enzyme Number (IUBMB): EC 4.1.3.3¹ ²

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:0008747	N-acetylneuraminate lyase activity	ISS	--
GO:0016829	lyase activity	--	--

NPL for ontologies About GeneDecksing

Phenotypes:
2 GenomeRNAi human phenotypes for NPL:

Decreased viability of wild-ty

Decreased viability with pacli

2 MGI mutant phenotypes (inferred from 1 allele) (MGI details for Npl):

homeostasis/metabolism

immune system

NPL for phenotypes About GeneDecksing

Animal Models:

inGenious Targeting Laboratory - Customizable classic, inducible, and humanized mouse model solutions for NPL

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		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat NPL
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		hsa-miR-579 hsa-miR-607 hsa-miR-125a-5p hsa-miR-4251 hsa-miR-539 hsa-miR-3159 hsa-miR-877* hsa-miR-125b

		SwitchGear 3'UTR luciferase reporter plasmid: NPL 3' UTR sequence

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In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for NPL

(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

Unified GeneCards pathways About this table

See pathways by source

Super-pathway

contained gene-specific pathways

Amino sugar and nucleotide sugar metabolism

Amino sugar and nucleotide sugar metabolism

1.00

Pathway sources
See GeneCards unified pathways
Show all pathways

1 Kegg Pathway (Kegg details for NPL):

Amino sugar and nucleotide sugar metabolism

UniProtKB/Swiss-Prot: NPL_HUMAN, Q9BXD5

Pathway: Amino-sugar metabolism; N-acetylneuraminate degradation

NPL for pathways About GeneDecksing

Interactions:

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

STRING Interaction Network Preview (showing 3 interactants - click image to see more details)

3 Interacting proteins for NPL (ENSP00000258317⁴) via UniProtKB, MINT, STRING, and/or I2D

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
GNE	ENSP00000379839⁴	STRING: ENSP00000379839
NANS	ENSP00000210444⁴	STRING: ENSP00000210444
RENBP	ENSP00000377303⁴	STRING: ENSP00000377303

About this table

Gene Ontology (GO): 2 biological process terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005975	carbohydrate metabolic process	IEA	--
GO:0019262	N-acetylneuraminate catabolic process	TAS	--

NPL for ontologies About GeneDecksing

(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

NPL for compounds About GeneDecksing

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for NPL

4 HMDB Compounds for NPL About this table

Compound	Synonyms	CAS #	PubMed Ids
N-Acetyl-D-mannosamine	2-acetamido-2-deoxy-d-monnose (see all 3)	3615-17-6	--
N-Acetylmannosamine	2-Acetamido-2-deoxy-D-mannose (see all 3)	3615-17-6	--
N-Acetylneuraminic acid	Sialic acid (see all 55)	131-48-6	--
Pyruvic acid	2-Oxopropanoate (see all 14)	127-17-3	--

6 Novoseek chemical compound relationships for NPL gene About this table

Compound	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
dihydrodipicolinate	97.8	24	15686899 (3), 18077163 (2), 19919824 (2), 18937497 (2) (see all 15)
glucosamine 6-phosphate	74.5	6	8906124 (2), 8704962 (1)
sialic acid	60.4	14	8906124 (2), 8636957 (1), 9047371 (1), 17565178 (1) (see all 5)
lysine	53.8	4	18077163 (1), 9165072 (1), 15686899 (1), 19236959 (1)
pyruvate	46.7	4	8906124 (2), 15686899 (1)
n-acetylglucosamine	44.6	4	8906124 (2), 8704962 (1)

Search CenterWatch for drugs/clinical trials and news about NPL

(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,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, Sirion Biotech, microRNA from QIAGEN,
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 NPL gene (5 alternative transcripts):

NM_001200050.1 NM_001200051.1 NM_001200052.1 NM_001200056.1 NM_030769.2

Unigene Cluster for NPL:

N-acetylneuraminate pyruvate lyase (dihydrodipicolinate synthase)

Hs.496969 [show with all ESTs]

Unigene Representative Sequence: NM_001200050

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

ENST00000488424(uc010pnx.2 uc001gpp.4 uc009wyc.3) ENST00000460690

ENST00000463899 ENST00000367555 ENST00000479721 ENST00000471010 ENST00000367553(uc009wyb.3 uc021pfz.1)

ENST00000460179 ENST00000367552 ENST00000258317 ENST00000367550 ENST00000367554(uc010pny.2 uc001gpo.2)

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		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat NPL
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		hsa-miR-579 hsa-miR-607 hsa-miR-125a-5p hsa-miR-4251 hsa-miR-539 hsa-miR-3159 hsa-miR-877* hsa-miR-125b

		SwitchGear 3'UTR luciferase reporter plasmid: NPL 3' UTR sequence

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		GenScript: all cDNA clones in your preferred vector (see all 2): NPL (NM_001005335)
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Additional cDNA sequence:

AF338436.1 AK297017.1 AK301068.1 AK313225.1 AY336748.1 BC034429.1 BC042003.1 BC058003.1

BC125051.1

18 DOTS entries:

DT.446804 DT.100740833 DT.101983110 DT.308396 DT.65286583 DT.100740832 DT.65287930 DT.121443790

DT.40131491 DT.429874 DT.100723419 DT.86853899 DT.95210968 DT.121443743 DT.121443763 DT.92424959

DT.91745141 DT.91805342

24/147 AceView cDNA sequences (see all 147):

AL525867 CA396517 AW183773 AF338436 AW263057 AA233620 AI245446 BC058003

BE551607 AI433869 NM_030769 BU172763 BM989844 AI942375 AI803587 CD366774

AA564574 BC034429 N43918 H48512 AI694448 AI968674 AI032532 CR592936

GeneLoc Exon Structure

5/10 Alternative Splicing Database (ASD) splice patterns (SP) for NPL (see all 10) About this scheme

ExUns:	1	^	2	^	3	^	4	^	5a	·	5b	·	5c	^	6	^	7	^	8a	·	8b	^	9	^	10	^	11	^	12	^	13a	·	13b	·	13c	^	14	^	15a	·	15b	^	16a	·	16b	^	17a	·	17b
SP1:													-						-												-						-
SP2:													-		-		-		-												-						-				-		-		-
SP3:													-		-		-		-												-						-				-
SP4:													-		-		-		-												-		-		-		-				-
SP5:															-		-		-												-						-				-

ECgene alternative splicing isoforms for NPL

(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

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

About this image

NPL 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

Posterior foregut-like cells (A scalable, suspensi...)

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

See NPL Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for NPL

SOURCE GeneReport for Unigene cluster: Hs.496969

UniProtKB/Swiss-Prot: NPL_HUMAN, Q9BXD5

Tissue specificity: Isoform 2 is expressed in placenta, liver, kidney, pancreas, spleen, thymus, ovary, small intestine

and peripheral blood leukocyte

SABiosciences Custom PCR Arrays for NPL

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In Situ
Assay Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for NPL

(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 NPL gene from 6/20 species (see all 20) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
chicken (Gallus gallus)	Aves	NPL¹	N-acetylneuraminate pyruvate lyase (dihydrodipicolinate more	72.44(n) 71.33(a)		429074 NM_001031560.1 NP_001026731.1
lizard (Anolis carolinensis)	Reptilia	NPL⁶ HOGA1⁶	--	66(a) 19(a)	1 ↔ 1 possible ortholog	GL343203.1(4673416-4693283) 3(39228706-39243011)
African clawed frog (Xenopus laevis)	Amphibia	Xl.20048²	Xenopus laevis transcribed sequence with weak similarity more	75.15(n)		BX846041.1
zebrafish (Danio rerio)	Actinopterygii	wufb53b06²	wufb53b06	73.16(n)		322207 CK026364.1
mosquito (Anopheles gambiae)	Insecta	AgaP_AGAP007700¹	AGAP007700-PA	46.13(n) 31(a)		1269533 XM_308175.4 XP_308175.3
E. coli (Escherichia coli)	Gamma proteobacteria	nanA⁶ yjhH⁶ (see all 3)	N-acetylneuraminate lyase KpLE2 phage-like element; predicted lyase/synthase... (see all 3)	26(a) 24(a) (see all 3)	1 ↔ 1 possible ortholog (see all 3)	Chromosome(3370705-3371598) Chromosome(4522128-4523033)

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

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

Paralogs for NPL gene

HOGA1²

NPL for paralogs About GeneDecksing

1 Pseudogenes.org Pseudogene for NPL
PGOHUM00000240626

(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 1 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs141484305^1,2		--	182756655(+)	`AATTGC/TAGCAA`	5	--	us2k¹		0	--	--	--	--
rs190743284^1,2		--	182756779(+)	`CTGCAC/TTGTGG`	5	--	us2k¹		0	--	--	--	--
rs150422215^1,2		--	182756843(+)	`TGGGGA/GCAAGA`	5	--	us2k¹		0	--	--	--	--
rs180887713^1,2		--	182756918(+)	`CTGCCA/GCTTAT`	5	--	us2k¹		0	--	--	--	--
rs185831272^1,2		--	182756946(+)	`CCTGCA/GGTTCA`	5	--	us2k¹		0	--	--	--	--
rs10911135^1,2	C,F,A	--	182756967(+)	`TTTTGT/CTGCCT`	5	--	us2k¹		10		NA WA CSA EA	370
rs140755584^1,2		--	182757093(+)	`ACACA-/CCCCACC`	5	--	us2k¹		0	--	--	--	--
rs191527652^1,2		--	182757176(+)	`TTTAAA/GACAAC`	5	--	us2k¹		0	--	--	--	--
rs6671247^1,2	C	--	182757181(+)	`AACAAC/TGTCTC`	5	--	us2k¹		0	--	--	--	--
rs182914073^1,2		--	182757224(+)	`ATAACA/GGCACA`	5	--	us2k¹		0	--	--	--	--

HapMap Linkage Disequilibrium report for NPL (182758428 - 182799519 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 2 variations for NPL
2 CNVs: 5537 65384
Human Gene Mutation Database (HGMD): NPL

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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

NPL for disorders           About GeneDecksing

OMIM gene information: 611412    OMIM disorders: --

10 diseases for NPL:    About MalaCards

toxic optic neuropathy primary cutaneous amyloidosis retinal perforation endophthalmitis

amyloidosis retinitis influenza prostate cancer

pneumonia prostatitis

2 diseases from the University of Copenhagen DISEASES database for NPL:

Schizophrenia Expressive language disorder

Export disorders for NPL 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 NPL gene, integrated from 9 sources (see all 30):
(articles sorted by number of sources associating them with NPL)

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

Cloning and characterization of 13 novel transcripts and the human RGS8 gene from the 1q25 region encompassing the hereditary prostate cancer (HPC1) locus. (PubMed id 11318611)^{1, 2, 3} Sood R....Carpten J.D. (2001)
A novel splice variant of human gene NPL, mainly expressed in human liver, kidney and peripheral blood leukocyte. (PubMed id 16147865)^{1, 2, 9} Wu M.... Mao Y. (2005)
The DNA sequence and biological annotation of human chromosome 1. (PubMed id 16710414)^{1, 2} Gregory S.G.... Bentley D.R. (2006)
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)
Metabolism of vertebrate amino sugars with N-glycolyl groups: elucidating the intracellular fate of the non-human sialic acid N- glycolylneuraminic acid. (PubMed id 22692205)² Bergfeld A.K.... Varki A. (2012)
Interactions of pathological hallmark proteins: tubul in polymerization promoting protein/p25, beta-amyloid, and alpha-synuclein. (PubMed id 21832049)¹ OlA!h J....OvA!di J. (2011)
Homology modeling and molecular dynamics study on N-acetylneuraminate lyase. (PubMed id 19057931)¹ Chu H.Y....Zhang H.X. (2009)
Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)² 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)
Characterization of a sialate pyruvate-lyase in the c ytosol of human erythrocytes. (PubMed id 12453637)¹ Bulai T....Montreuil J. (2002)

(in PubMed, OMIM, and NCBI Bookshelf)
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		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: 80896	HGNC: 16781	AceView: NPL	Ensembl:ENSG00000135838	euGenes: HUgn80896
ECgene: NPL	Kegg: 80896	H-InvDB: NPL

(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 NPL	Pharmacogenomics, SNPs, Pathways

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

About This Section

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

GeneCards and IP:
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(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 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, LifeMap BioReagents, and Sirion Biotech, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences, In Situ Hybridization Assays from
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