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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

UAP1 Gene

protein-coding GIFtS: 63
GCID: GC01P162531

UDP-N-acteylglucosamine pyrophosphorylase 1

(Previous symbol: SPAG2)

Explore 18 diseases affiliated with
UAP1 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
UDP-N-Acteylglucosamine Pyrophosphorylase 1¹ ²		AGX2²
SPAG2¹ ² ³		Sperm Associated Antigen 2²
AGX1¹ ²		UDP-N-Acetylhexosamine Pyrophosphorylase²
Antigen X² ³		EC 2.7.7⁸
Sperm-Associated Antigen 2² ³		EC 2.7.7.23⁸
AGX² ³		EC 2.7.7.27⁸
AgX¹

External Ids:	HGNC: 12457¹	Entrez Gene: 6675²	Ensembl: ENSG00000117143⁷	OMIM: 602862⁵	UniProtKB: Q16222³

Export aliases for UAP1 gene to outside databases

Previous GC identifers: GC01P160166 GC01P158182 GC01P159227 GC01P159718 GC01P159262 GC01P160797 GC01P133776

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

UniProtKB/Swiss-Prot: UAP1_HUMAN, Q16222

Function: Converts UDP and GlcNAc-1-P into UDP-GlcNAc, and UDP and GalNAc-1-P into UDP-GalNAc. Isoform AGX1 has 2 to 3

times higher activity towards GalNAc-1-P, while isoform AGX2 has 8 times more activity towards GlcNAc-1-P

Gene Wiki entry for UAP1

(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 UAP1 gene promoter:
Sp1 AML1a POU6F1 (c2) POU2F1 POU2F1a POU2F1b POU2F1c Pax-4a ATF6 Hlf
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: UAP1 promoter sequence

Search SABiosciences Chromatin IP Primers for UAP1

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat UAP1

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

Entrez Gene cytogenetic band: 1q23.3 Ensembl cytogenetic band: 1q23.3 HGNC cytogenetic band: 1q23.2

UAP1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
UAP1 gene location

GeneLoc information about chromosome 1 GeneLoc Exon Structure

GeneLoc location for GC01P162531: view genomic region (about GC identifiers)

Start:	162,531,296 bp from pter	End:	162,569,633 bp from pter
Size:	38,338 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: UAP1_HUMAN, Q16222 (See protein sequence)

Recommended Name: UDP-N-acetylhexosamine pyrophosphorylase

Size: 522 amino acids; 58769 Da

Subunit: Monomer and homodimer. Isoform AGX1 is a homodimer. Isoform AGX2 is a monomer

Subcellular location: Cytoplasm. Note=In spermatozoa, localized to the principal piece of the tail, the neck region of

the head and to a lesser extent, the midpiece of the tail

4 PDB 3D structures from and Proteopedia for UAP1:

1JV1 (3D)

1JV3 (3D)

1JVD (3D)

1JVG (3D)

Secondary accessions: B2R6R8 Q5VTA9 Q5VTB0 Q5VTB1 Q96GM2

Alternative splicing: 3 isoforms: Q16222-1 Q16222-2 Q16222-3

Explore the universe of human proteins at neXtProt for UAP1: NX_Q16222

Post-translational modifications:

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_Q16222

4/7 DME Specific Peptides for UAP1 (Q16222) (see all 7)

YCVDNIL

EFSPLKN

VVEYSEIS

ADCGAKVV

UAP1 Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins: NP_003106.3

ENSEMBL proteins:

ENSP00000395648 ENSP00000356903 ENSP00000356902 ENSP00000356901 ENSP00000271469

Reactome Protein details: Q16222
Human Recombinant Protein Products:

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	Novus Biologicals UAP1 Proteins Novus Biologicals UAP1 Lysates
	Browse Sino Biological Recombinant Proteins
	Browse ProSpec Recombinant Proteins
	Uscn Proteins for UAP1

Gene Ontology (GO): 5 cellular component terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005634	nucleus	IDA	--
GO:0005730	NOT nucleolus	IDA	--
GO:0005737	cytoplasm	IDA	--
GO:0005829	cytosol	TAS	--
GO:0005886	plasma membrane	IDA	--

UAP1 for ontologies About GeneDecksing

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	Uscn ELISAs and CLIAs for UAP1

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

UAP1 for domains About GeneDecksing

1 InterPro domain/family:

IPR002618 UDPGP_trans

Graphical View of Domain Structure for InterPro Entry Q16222

ProtoNet protein and cluster: Q16222

1 Blocks protein family: IPB002618 UTP--glucose-1-phosphate uridylyltransferase

UniProtKB/Swiss-Prot: UAP1_HUMAN, Q16222

Similarity: Belongs to the UDPGP type 1 family

(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: UAP1_HUMAN, Q16222

Function: Converts UDP and GlcNAc-1-P into UDP-GlcNAc, and UDP and GalNAc-1-P into UDP-GalNAc. Isoform AGX1 has 2 to 3

times higher activity towards GalNAc-1-P, while isoform AGX2 has 8 times more activity towards GlcNAc-1-P

Catalytic activity: UTP + N-acetyl-alpha-D-galactosamine 1-phosphate = diphosphate + UDP-N-acetyl-alpha-D-galactosamine

Catalytic activity: UTP + N-acetyl-alpha-D-glucosamine 1-phosphate = diphosphate + UDP-N-acetyl-alpha-D-glucosamine

Enzyme Numbers (IUBMB): EC 2.7.7.27² EC 2.7.7² EC 2.7.7.23²

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		5 QIAGEN miScript miRNA Assays for microRNAs that regulate UAP1:
		hsa-miR-3163 hsa-miR-2115 hsa-miR-27a hsa-miR-624* hsa-miR-27b
		SwitchGear 3'UTR luciferase reporter plasmid: UAP1 3' UTR sequence

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In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for UAP1

Gene Ontology (GO): 3 molecular function terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0003977	UDP-N-acetylglucosamine diphosphorylase activity	TAS	--
GO:0016779	nucleotidyltransferase activity	--	--
GO:0030246	carbohydrate binding	IEA	--

UAP1 for ontologies About GeneDecksing

(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

UDP-N-acetyl-D-glucosamine biosynthesis II

	UDP-N-acetyl-D-glucosamine biosynthesis II	1.00			UDP-N-acetyl-D-galactosamine biosynthesis II	0.30
	Synthesis of UDP-N-acetyl-glucosamine	0.67

Asparagine N-linked glycosylation

	Asparagine N-linked glycosylation	1.00			Metabolism of proteins	0.15
	Post-translational protein modification	0.44

Biosynthesis of the N-glycan precursor (dolichol lipid-linked oligosaccharide, LLO) and transfer to a nascent protein

Biosynthesis of the N-glycan precursor (dolichol lipid-linked oligosaccharide, LLO) and transfer to a nascent protein

1.00

Synthesis of substrates in N-glycan biosythesis

0.53

Amino sugar and nucleotide sugar metabolism

Amino sugar and nucleotide sugar metabolism

1.00

Metabolism

Metabolic pathways

0.38

Pathway sources
See GeneCards unified pathways
Show all pathways

2 BioSystems Pathways for UAP1

	UDP-N-acetyl-D-glucosamine biosynthesis II
	UDP-N-acetyl-D-galactosamine biosynthesis II

5/6 Reactome Pathways for UAP1 (see all 6)

	Synthesis of substrates in N-glycan biosythesis
	Asparagine N-linked glycosylation
	Metabolism of proteins
	Post-translational protein modification
	Synthesis of UDP-N-acetyl-glucosamine

2 Kegg Pathways (Kegg details for UAP1):

	Amino sugar and nucleotide sugar metabolism
	Metabolic pathways

UniProtKB/Swiss-Prot: UAP1_HUMAN, Q16222

Pathway: Nucleotide-sugar biosynthesis; UDP-N-acetyl-alpha-D-glucosamine biosynthesis; UDP-N-acetyl-alpha-D-glucosamine

from N-acetyl-alpha-D-glucosamine 1-phosphate: step 1/1

UAP1 for pathways About GeneDecksing

Interactions:

Search SABiosciences Gene Network Central^TM Interacting Genes and Proteins Networks for UAP1

STRING Interaction Network Preview (showing 5 interactants - click image to see 8)

5/21 Interacting proteins for UAP1 (Q16222³ ENSP00000356903⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 21)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
UBC	P0CG48³, ENSP00000344818⁴	I2D: score=1 STRING: ENSP00000344818
CTH	P32929³	I2D: score=1
GCSH	P23434³	I2D: score=1
GGPS1	O95749³	I2D: score=1
IQGAP2	Q13576³	I2D: score=1

About this table

Gene Ontology (GO): 5 biological process terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0006048	UDP-N-acetylglucosamine biosynthetic process	TAS	--
GO:0006488	dolichol-linked oligosaccharide biosynthetic process	TAS	--
GO:0018279	protein N-linked glycosylation via asparagine	TAS	--
GO:0043687	post-translational protein modification	TAS	--
GO:0044267	cellular protein metabolic process	TAS	--

UAP1 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

UAP1 for compounds About GeneDecksing

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for UAP1

6 HMDB Compounds for UAP1 About this table

Compound	Synonyms	CAS #	PubMed Ids
Glucosamine-1P	alpha-D-glucosamine 1-phosphate (see all 5)	--	--
N-Acetyl-glucosamine 1-phosphate	D-glucosamine 1-phosphate (see all 9)	901851-43-2	--
Phosphoric acid	acide phosphorique (FRENCH) (see all 20)	7664-38-2	--
Pyrophosphate	(4-)Diphosphoric acid ion (see all 10)	14000-31-8	--
Uridine diphosphate-N-acetylglucosamine	N-[2-[[[5-[(2,4-dioxo-1H-pyrimidin-1-yl)]-3,4-dihydroxy-tetrahydrofuran-2-yl]methoxy-hydroxy-phosphinoyl]oxy-hydroxy-phosphinoyl]oxy-4,5-dihydroxy-6-(hydroxymethyl)tetrahydropyran-3-yl]acetamide (see all 30)	528-04-1	--
Uridine triphosphate	5'-UTP (see all 7)	63-39-8	--

2 DrugBank Compounds for UAP1 About this table

Compound	Synonyms	CAS #	Type	Actions	PubMed Ids
Uridine-Diphosphate-N-Acetylgalactosamine	--	--	target	--	17139284 17016423
Uridine-Diphosphate-N-Acetylglucosamine	--	--	target	--	17139284 17016423

3 Novoseek chemical compound relationships for UAP1 gene About this table

Compound	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
udp-n-acetylglucosamine	89.6	29	10799561 (5), 9603950 (3), 1484552 (1), 15803415 (1) (see all 10)
glucosamine 6-phosphate	69.1	1	10799561 (1)
chitin	39.3	1	16368930 (1)

Search CenterWatch for drugs/clinical trials and news about UAP1

(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, 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 UAP1 gene:

NM_003115.4

Unigene Cluster for UAP1:

UDP-N-acteylglucosamine pyrophosphorylase 1

Hs.492859 [show with all ESTs]

Unigene Representative Sequence: NM_003115

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

ENST00000412525 ENST00000367926(uc001gce.4) ENST00000476240 ENST00000367925

ENST00000367924 ENST00000474728 ENST00000486089 ENST00000271469

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Additional cDNA sequence:

AB011004.1 AK312685.1 BC009377.2 S73498.1

15 DOTS entries:

DT.443886 DT.95145449 DT.100795034 DT.92030233 DT.100795035 DT.121390409 DT.91734525 DT.92450348

DT.100795030 DT.100795033 DT.120969840 DT.206569 DT.65286153 DT.95145462 DT.40111992

24/264 AceView cDNA sequences (see all 264):

BU679071 AW827133 BU506926 BU154308 AW073081 BU161080 AI989289 BM785654

BI857964 CB111893 BI868453 AL045213 BM552037 BC009377 AL576735 AW073997

BM450979 AL520092 CB129958 CB158572 NM_003115 BM828651 BM856655 BU674497

GeneLoc Exon Structure

5/9 Alternative Splicing Database (ASD) splice patterns (SP) for UAP1 (see all 9) About this scheme

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

ECgene alternative splicing isoforms for UAP1

(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

UAP1 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: TTGAAAGGTT

About this image
See UAP1 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for UAP1

SOURCE GeneReport for Unigene cluster: Hs.492859

UniProtKB/Swiss-Prot: UAP1_HUMAN, Q16222

Tissue specificity: Widely expressed. Isoform AGX1 is more abundant in testis than isoform AGX2, while isoform AGX2 is

more abundant than isoform AGX1 in somatic tissue. Expressed at low level in placenta, muscle and liver

SABiosciences Custom PCR Arrays for UAP1

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In Situ
Assay Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for UAP1

(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 eukaryotes.

Orthologs for UAP1 gene from 9/34 species (see all 34) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
chicken (Gallus gallus)	Aves	UAP1¹	UDP-N-acteylglucosamine pyrophosphorylase 1	70.38(n) 80.45(a)		424368 XM_003641671.1 XP_003641719.1
lizard (Anolis carolinensis)	Reptilia	UAP1⁶	--	77(a)	1 ↔ 1	GL343300.1(1142778-1161099)
African clawed frog (Xenopus laevis)	Amphibia	Xl.5556²	Xenopus laevis transcribed sequence with moderate similarity more	77.69(n)		CA972646.1
zebrafish (Danio rerio)	Actinopterygii	Dr.3773²	Danio rerio mRNA similar to expressed sequence AA42 more	75.92(n)		BC044137.1
fruit fly (Drosophila melanogaster)	Insecta	BcDNA:LD24639³ mmy¹	UDP-N-acetylglucosamine pyrophosphorylase³ mummy¹	51(a)³ 56.68(n)¹ 54.53(a)¹		26D7³ 33903¹ NM_135188.2¹ NP_609032.1¹
worm (Caenorhabditis elegans)	Secernentea	K06B9.2³	--	43(a) (best of 2)		IV(4194487-4196092) --
baker's yeast (Saccharomyces cerevisiae)	Saccharomycetes	QRI1(YDL103C)⁴ QRI1¹	UDP-N-acetylglucosamine pyrophosphorylase, catalyzes more⁴ Qri1p¹	50.18(n)¹ 42.64(a)¹		4(276581-275148)⁴ 851455^{1, 4} NP_010180.1^{1, 4}
thale cress (Arabidopsis thaliana)	eudicotyledons	GlcNA.1UT2¹	putative UDP-N-acetylglucosamine pyrophosphorylase	52.65(n) 45.41(a)		818066 NM_129054.3 NP_181047.1
rice (Oryza sativa)	Liliopsida	AK071409.1²	--	73.5(n)		AK071409.1

ENSEMBL Gene Tree for UAP1 (if available)
TreeFam Gene Tree for UAP1 (if available)

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

Paralogs for UAP1 gene

UAP1L1²

1 SIMAP similar gene for UAP1 using alignment to 2 protein entries: UAP1_HUMAN (see all proteins):

UAP1L1

UAP1 for paralogs About GeneDecksing

1 Pseudogenes.org Pseudogene for UAP1
PGOHUM00000237424

(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)
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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
				--	--	--		--	--
rs12045760^1,2	C,F,	unknown	162566561(+)	`ACTACA/C/GTACTT`	1	--	int¹		5		NA EA	246
rs77944610^1,2	F,	--	162529489(+)	`TTCGAA/CGGACA`	1	--	us2k¹		2		WA NA	238
rs186585669^1,2		--	162529503(+)	`ATAACA/TCTAGT`	1	--	us2k¹		0	--	--	--	--
rs113155194^1,2	C,	--	162529511(+)	`GTGTT-/AAGACA`	1	--	us2k¹		1		CSA	2
rs138410051^1,2		--	162529563(+)	`TTATGA/CCTAGT`	1	--	us2k¹		0	--	--	--	--
rs149241836^1,2		--	162529665(+)	`CCTCAG/TTTCTA`	1	--	us2k¹		0	--	--	--	--
rs188984273^1,2		--	162529917(+)	`TCCTAA/GTTTGA`	1	--	us2k¹		0	--	--	--	--
rs144648886^1,2		--	162529927(+)	`AATTAA/TTAAGT`	1	--	us2k¹		0	--	--	--	--
rs139358077^1,2		--	162530000(+)	`ATCGAC/TTGGTT`	1	--	us2k¹		0	--	--	--	--
rs181707565^1,2		--	162530017(+)	`AACCAC/TCAAAT`	1	--	us2k¹		0	--	--	--	--

HapMap Linkage Disequilibrium report for UAP1 (162531296 - 162569633 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 1 variation for UAP1
1 CNV: 48150

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(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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UAP1 for disorders           About GeneDecksing

OMIM gene information: 602862    OMIM disorders: --

18 diseases for UAP1:    About MalaCards

hepadnavirus infection esophageal squamous cell carcinoma squamous cell carcinoma intrahepatic cholangiocarcinoma

essential hypertension hepatitis b hepatocellular carcinoma cholangiocarcinoma

hepatitis pneumonia hypertension esophagitis

infertility carcinoma colorectal cancer lung cancer

malaria hepatitis b virus infection

4 Novoseek disease relationships for UAP1 gene About this table

Disease	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
hepatitis b	54.1	16	2311861 (3), 2353461 (2), 1955710 (2), 7658063 (1) (see all 8)
hepatocellular carcinoma	25.4	2	10208429 (2)
hepatitis	21.8	2	2365196 (1), 2311861 (1)
cancer	0	2	17305540 (1), 10449611 (1)

Human Genome Epidemiology (HuGE) Navigator: UAP1 (1 document)

Export disorders for UAP1 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 UAP1 gene, integrated from 9 sources (see all 53):
(articles sorted by number of sources associating them with UAP1)

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

Characterization of a human antigen with sera from infertile patients. (PubMed id 8025165)^{1, 2, 3, 9} Diekman A.B. and Goldberg E. (1994)
The eukaryotic UDP-N-acetylglucosamine pyrophosphorylases: gene cloning, protein expression, and catalytic mechanism. (PubMed id 9603950)^{1, 2, 3, 9} Mio T.... Yamada-Okabe H. (1998)
A 17-amino acid insert changes UDP-N-acetylhexosamine pyrophosphorylase specificity from UDP-GalNAc to UDP-GlcNAc. (PubMed id 9765219)^{1, 2, 9} Wang-Gillam A.... Elbein A.D. (1998)
Crystal structures of two human pyrophosphorylase isoforms in complexes with UDPGlc(Gal)NAc: role of the alternatively spliced insert in the enzyme oligomeric assembly and active site architecture. (PubMed id 11707391)^{1, 2, 9} Peneff C.... Bourne Y. (2001)
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)
Expression of the human antigen SPAG2 in the testis and localization to the outer dense fibers in spermatozoa. (PubMed id 9621304)^{1, 9} Diekman A.B....Goldberg E. (1998)
A census of human soluble protein complexes. (PubMed id 22939629)¹ Havugimana P.C....Emili A. (2012)
Initial characterization of the human central proteome. (PubMed id 21269460)² Burkard T.R.... Colinge J. (2011)
A proteome-wide, quantitative survey of in vivo ubiqui tylation sites reveals widespread regulatory roles. (PubMed id 21890473)¹ Wagner S.A....Choudhary C. (2011)

(in PubMed, OMIM, and NCBI Bookshelf)
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		AND	OR
Aliases
Disorders
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)
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Entrez Gene: 6675	HGNC: 12457	AceView: UAP1	Ensembl:ENSG00000117143	euGenes: HUgn6675
ECgene: UAP1	Kegg: 6675	H-InvDB: UAP1

(According to HUGE)
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(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
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Name	Description
PharmGKB entry for UAP1	Pharmacogenomics, SNPs, Pathways

Intellectual Property for UAP1 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 UAP1 gene:
Search GeneIP for patents involving UAP1

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

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UDP-N-acteylglucosamine pyrophosphorylase 1

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