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Protein

UDP-N-acetylhexosamine pyrophosphorylase

Gene

UAP1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

Converts UTP and GlcNAc-1-P into UDP-GlcNAc, and UTP 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 activityi

UTP + N-acetyl-alpha-D-galactosamine 1-phosphate = diphosphate + UDP-N-acetyl-alpha-D-galactosamine.1 Publication
UTP + N-acetyl-alpha-D-glucosamine 1-phosphate = diphosphate + UDP-N-acetyl-alpha-D-glucosamine.1 Publication

Pathwayi: UDP-N-acetyl-alpha-D-glucosamine biosynthesis

This protein is involved in step 1 of the subpathway that synthesizes UDP-N-acetyl-alpha-D-glucosamine from N-acetyl-alpha-D-glucosamine 1-phosphate.
Proteins known to be involved in this subpathway in this organism are:
  1. UDP-N-acetylhexosamine pyrophosphorylase (UAP1)
This subpathway is part of the pathway UDP-N-acetyl-alpha-D-glucosamine biosynthesis, which is itself part of Nucleotide-sugar biosynthesis.
View all proteins of this organism that are known to be involved in the subpathway that synthesizes UDP-N-acetyl-alpha-D-glucosamine from N-acetyl-alpha-D-glucosamine 1-phosphate, the pathway UDP-N-acetyl-alpha-D-glucosamine biosynthesis and in Nucleotide-sugar biosynthesis.

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Binding sitei122UTPBy similarity1
Binding sitei196UTPBy similarity1
Binding sitei222UTP; via amide nitrogenBy similarity1
Binding sitei223Substrate1 Publication1
Binding sitei253UTPBy similarity1
Binding sitei377UTPBy similarity1
Binding sitei407Substrate1 Publication1

GO - Molecular functioni

  • carbohydrate binding Source: Ensembl
  • identical protein binding Source: IntAct
  • UDP-N-acetylglucosamine diphosphorylase activity Source: GO_Central

GO - Biological processi

Keywordsi

Molecular functionNucleotidyltransferase, Transferase

Enzyme and pathway databases

BRENDAi2.7.7.83 2681
ReactomeiR-HSA-446210 Synthesis of UDP-N-acetyl-glucosamine
SABIO-RKiQ16222
UniPathwayi
UPA00113;UER00533

Names & Taxonomyi

Protein namesi
Recommended name:
UDP-N-acetylhexosamine pyrophosphorylase
Alternative name(s):
Antigen X
Short name:
AGX
Sperm-associated antigen 2
Including the following 2 domains:
UDP-N-acetylgalactosamine pyrophosphorylase (EC:2.7.7.83)
Alternative name(s):
AGX-1
UDP-N-acetylglucosamine pyrophosphorylase (EC:2.7.7.23)
Alternative name(s):
AGX-2
Gene namesi
Name:UAP1
Synonyms:SPAG2
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 1

Organism-specific databases

EuPathDBiHostDB:ENSG00000117143.13
HGNCiHGNC:12457 UAP1
MIMi602862 gene
neXtProtiNX_Q16222

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Cytoplasm

Pathology & Biotechi

Organism-specific databases

DisGeNETi6675
OpenTargetsiENSG00000117143
PharmGKBiPA37107

Chemistry databases

DrugBankiDB02196 Uridine-Diphosphate-N-Acetylgalactosamine
DB03397 Uridine-Diphosphate-N-Acetylglucosamine

Polymorphism and mutation databases

BioMutaiUAP1
DMDMi68846235

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00001857671 – 522UDP-N-acetylhexosamine pyrophosphorylaseAdd BLAST522

Proteomic databases

EPDiQ16222
MaxQBiQ16222
PaxDbiQ16222
PeptideAtlasiQ16222
PRIDEiQ16222
ProteomicsDBi60840
60841 [Q16222-2]
60842 [Q16222-3]

2D gel databases

REPRODUCTION-2DPAGEiIPI00217816

PTM databases

iPTMnetiQ16222
PhosphoSitePlusiQ16222

Expressioni

Tissue specificityi

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.

Gene expression databases

BgeeiENSG00000117143 Expressed in 232 organ(s), highest expression level in layer of synovial tissue
CleanExiHS_UAP1
ExpressionAtlasiQ16222 baseline and differential
GenevisibleiQ16222 HS

Organism-specific databases

HPAiHPA014659

Interactioni

Subunit structurei

Monomer and homodimer. Isoform AGX1 is a homodimer. Isoform AGX2 is a monomer.1 Publication

Binary interactionsi

WithEntry#Exp.IntActNotes
itself3EBI-10237564,EBI-10237564

GO - Molecular functioni

Protein-protein interaction databases

BioGridi112557, 20 interactors
IntActiQ16222, 7 interactors
STRINGi9606.ENSP00000356903

Structurei

Secondary structure

1522
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

DisProtiDP00363
DP01098
ProteinModelPortaliQ16222
SMRiQ16222
ModBaseiSearch...
MobiDBiSearch...

Miscellaneous databases

EvolutionaryTraceiQ16222

Family & Domainsi

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni108 – 111UTP bindingBy similarity4

Motif

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Motifi108 – 111Substrate binding4
Motifi303 – 304Substrate binding2

Sequence similaritiesi

Belongs to the UDPGP type 1 family.Curated

Phylogenomic databases

eggNOGiKOG2388 Eukaryota
COG4284 LUCA
GeneTreeiENSGT00390000010072
HOGENOMiHOG000186273
HOVERGENiHBG018024
InParanoidiQ16222
KOiK00972
OMAiFHIARKK
OrthoDBiEOG091G05FO
PhylomeDBiQ16222
TreeFamiTF300611

Family and domain databases

Gene3Di3.90.550.10, 1 hit
InterProiView protein in InterPro
IPR029044 Nucleotide-diphossugar_trans
IPR039741 UDP-sugar_pyrophosphorylase
IPR002618 UDPGP_fam
PANTHERiPTHR11952 PTHR11952, 1 hit
PfamiView protein in Pfam
PF01704 UDPGP, 1 hit
SUPFAMiSSF53448 SSF53448, 1 hit

Sequences (3)i

Sequence statusi: Complete.

This entry describes 3 isoformsi produced by alternative splicing. AlignAdd to basket
Isoform AGX2 (identifier: Q16222-1) [UniParc]FASTAAdd to basket
Also known as: AGX-2

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide
        10         20         30         40         50
MNINDLKLTL SKAGQEHLLR FWNELEEAQQ VELYAELQAM NFEELNFFFQ
60 70 80 90 100
KAIEGFNQSS HQKNVDARME PVPREVLGSA TRDQDQLQAW ESEGLFQISQ
110 120 130 140 150
NKVAVLLLAG GQGTRLGVAY PKGMYDVGLP SRKTLFQIQA ERILKLQQVA
160 170 180 190 200
EKYYGNKCII PWYIMTSGRT MESTKEFFTK HKYFGLKKEN VIFFQQGMLP
210 220 230 240 250
AMSFDGKIIL EEKNKVSMAP DGNGGLYRAL AAQNIVEDME QRGIWSIHVY
260 270 280 290 300
CVDNILVKVA DPRFIGFCIQ KGADCGAKVV EKTNPTEPVG VVCRVDGVYQ
310 320 330 340 350
VVEYSEISLA TAQKRSSDGR LLFNAGNIAN HFFTVPFLRD VVNVYEPQLQ
360 370 380 390 400
HHVAQKKIPY VDTQGQLIKP DKPNGIKMEK FVFDIFQFAK KFVVYEVLRE
410 420 430 440 450
DEFSPLKNAD SQNGKDNPTT ARHALMSLHH CWVLNAGGHF IDENGSRLPA
460 470 480 490 500
IPRSATNGKS ETITADVNHN LKDANDVPIQ CEISPLISYA GEGLESYVAD
510 520
KEFHAPLIID ENGVHELVKN GI
Length:522
Mass (Da):58,769
Last modified:July 5, 2005 - v3
Checksum:i8A69B36D852B9472
GO
Isoform AGX1 (identifier: Q16222-2) [UniParc]FASTAAdd to basket
Also known as: AGX-1

The sequence of this isoform differs from the canonical sequence as follows:
     454-470: Missing.

Show »
Length:505
Mass (Da):57,028
Checksum:i6BDB4DA54D637317
GO
Isoform 3 (identifier: Q16222-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     454-454: Missing.

Show »
Length:521
Mass (Da):58,682
Checksum:i64D0360EFB15A528
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti61H → Y in AAH09377 (PubMed:15489334).Curated1
Sequence conflicti445G → S (PubMed:8025165).Curated1
Sequence conflicti445G → S (PubMed:9603950).Curated1
Sequence conflicti454S → Q (PubMed:8025165).Curated1
Sequence conflicti454S → Q (PubMed:9603950).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_014935418P → H. Corresponds to variant dbSNP:rs1128539Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_004483454 – 470Missing in isoform AGX1. 4 PublicationsAdd BLAST17
Alternative sequenceiVSP_014523454Missing in isoform 3. 1 Publication1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
S73498 mRNA Translation: AAB31210.2
AB011004 mRNA Translation: BAA31202.1
AK312685 mRNA Translation: BAG35565.1
AL596325 Genomic DNA No translation available.
CH471067 Genomic DNA Translation: EAW90710.1
BC009377 mRNA Translation: AAH09377.1
CCDSiCCDS1240.1 [Q16222-2]
CCDS81393.1 [Q16222-1]
CCDS81394.1 [Q16222-3]
RefSeqiNP_001311042.1, NM_001324113.1 [Q16222-2]
NP_001311043.1, NM_001324114.1 [Q16222-2]
NP_001311044.1, NM_001324115.1 [Q16222-2]
NP_001311045.1, NM_001324116.1 [Q16222-1]
NP_001311046.1, NM_001324117.1 [Q16222-3]
NP_003106.3, NM_003115.4 [Q16222-2]
XP_011508215.1, XM_011509913.2 [Q16222-1]
XP_011508216.1, XM_011509914.2 [Q16222-1]
UniGeneiHs.492859

Genome annotation databases

EnsembliENST00000271469; ENSP00000271469; ENSG00000117143 [Q16222-1]
ENST00000367924; ENSP00000356901; ENSG00000117143 [Q16222-3]
ENST00000367925; ENSP00000356902; ENSG00000117143 [Q16222-1]
ENST00000367926; ENSP00000356903; ENSG00000117143 [Q16222-2]
GeneIDi6675
KEGGihsa:6675
UCSCiuc001gce.5 human [Q16222-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
S73498 mRNA Translation: AAB31210.2
AB011004 mRNA Translation: BAA31202.1
AK312685 mRNA Translation: BAG35565.1
AL596325 Genomic DNA No translation available.
CH471067 Genomic DNA Translation: EAW90710.1
BC009377 mRNA Translation: AAH09377.1
CCDSiCCDS1240.1 [Q16222-2]
CCDS81393.1 [Q16222-1]
CCDS81394.1 [Q16222-3]
RefSeqiNP_001311042.1, NM_001324113.1 [Q16222-2]
NP_001311043.1, NM_001324114.1 [Q16222-2]
NP_001311044.1, NM_001324115.1 [Q16222-2]
NP_001311045.1, NM_001324116.1 [Q16222-1]
NP_001311046.1, NM_001324117.1 [Q16222-3]
NP_003106.3, NM_003115.4 [Q16222-2]
XP_011508215.1, XM_011509913.2 [Q16222-1]
XP_011508216.1, XM_011509914.2 [Q16222-1]
UniGeneiHs.492859

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
1JV1X-ray1.90A/B1-522[»]
1JV3X-ray2.20A/B1-522[»]
1JVDX-ray2.40A/B1-522[»]
1JVGX-ray2.30A/B1-522[»]
DisProtiDP00363
DP01098
ProteinModelPortaliQ16222
SMRiQ16222
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi112557, 20 interactors
IntActiQ16222, 7 interactors
STRINGi9606.ENSP00000356903

Chemistry databases

DrugBankiDB02196 Uridine-Diphosphate-N-Acetylgalactosamine
DB03397 Uridine-Diphosphate-N-Acetylglucosamine

PTM databases

iPTMnetiQ16222
PhosphoSitePlusiQ16222

Polymorphism and mutation databases

BioMutaiUAP1
DMDMi68846235

2D gel databases

REPRODUCTION-2DPAGEiIPI00217816

Proteomic databases

EPDiQ16222
MaxQBiQ16222
PaxDbiQ16222
PeptideAtlasiQ16222
PRIDEiQ16222
ProteomicsDBi60840
60841 [Q16222-2]
60842 [Q16222-3]

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000271469; ENSP00000271469; ENSG00000117143 [Q16222-1]
ENST00000367924; ENSP00000356901; ENSG00000117143 [Q16222-3]
ENST00000367925; ENSP00000356902; ENSG00000117143 [Q16222-1]
ENST00000367926; ENSP00000356903; ENSG00000117143 [Q16222-2]
GeneIDi6675
KEGGihsa:6675
UCSCiuc001gce.5 human [Q16222-1]

Organism-specific databases

CTDi6675
DisGeNETi6675
EuPathDBiHostDB:ENSG00000117143.13
GeneCardsiUAP1
H-InvDBiHIX0001264
HGNCiHGNC:12457 UAP1
HPAiHPA014659
MIMi602862 gene
neXtProtiNX_Q16222
OpenTargetsiENSG00000117143
PharmGKBiPA37107
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG2388 Eukaryota
COG4284 LUCA
GeneTreeiENSGT00390000010072
HOGENOMiHOG000186273
HOVERGENiHBG018024
InParanoidiQ16222
KOiK00972
OMAiFHIARKK
OrthoDBiEOG091G05FO
PhylomeDBiQ16222
TreeFamiTF300611

Enzyme and pathway databases

UniPathwayi
UPA00113;UER00533

BRENDAi2.7.7.83 2681
ReactomeiR-HSA-446210 Synthesis of UDP-N-acetyl-glucosamine
SABIO-RKiQ16222

Miscellaneous databases

ChiTaRSiUAP1 human
EvolutionaryTraceiQ16222
GeneWikiiUAP1
GenomeRNAii6675
PROiPR:Q16222
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000117143 Expressed in 232 organ(s), highest expression level in layer of synovial tissue
CleanExiHS_UAP1
ExpressionAtlasiQ16222 baseline and differential
GenevisibleiQ16222 HS

Family and domain databases

Gene3Di3.90.550.10, 1 hit
InterProiView protein in InterPro
IPR029044 Nucleotide-diphossugar_trans
IPR039741 UDP-sugar_pyrophosphorylase
IPR002618 UDPGP_fam
PANTHERiPTHR11952 PTHR11952, 1 hit
PfamiView protein in Pfam
PF01704 UDPGP, 1 hit
SUPFAMiSSF53448 SSF53448, 1 hit
ProtoNetiSearch...

Entry informationi

Entry nameiUAP1_HUMAN
AccessioniPrimary (citable) accession number: Q16222
Secondary accession number(s): B2R6R8
, Q5VTA9, Q5VTB0, Q5VTB1, Q96GM2
Entry historyiIntegrated into UniProtKB/Swiss-Prot: July 15, 1999
Last sequence update: July 5, 2005
Last modified: November 7, 2018
This is version 177 of the entry and version 3 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

3D-structure, Complete proteome, Direct protein sequencing, Reference proteome

Documents

  1. SIMILARITY comments
    Index of protein domains and families
  2. Human chromosome 1
    Human chromosome 1: entries, gene names and cross-references to MIM
  3. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  4. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  5. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  6. PATHWAY comments
    Index of metabolic and biosynthesis pathways
  7. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
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Main funding by: National Institutes of Health

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