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Protein

UDP-N-acetylhexosamine pyrophosphorylase

Gene

UAP1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-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

GO - Biological processi

Complete GO annotation...

Keywords - Molecular functioni

Nucleotidyltransferase, Transferase

Enzyme and pathway databases

BioCyciZFISH:HS04098-MONOMER.
BRENDAi2.7.7.83. 2681.
ReactomeiR-HSA-446210. Synthesis of UDP-N-acetyl-glucosamine.
SABIO-RKQ16222.
UniPathwayiUPA00113; 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

HGNCiHGNC:12457. UAP1.

Subcellular locationi

  • 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.

GO - Cellular componenti

Complete GO annotation...

Keywords - Cellular componenti

Cytoplasm

Pathology & Biotechi

Organism-specific databases

DisGeNETi6675.
OpenTargetsiENSG00000117143.
PharmGKBiPA37107.

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.

2D gel databases

REPRODUCTION-2DPAGEIPI00217816.

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.
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

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
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Helixi3 – 12Combined sources10
Helixi16 – 19Combined sources4
Helixi22 – 24Combined sources3
Helixi27 – 38Combined sources12
Helixi42 – 54Combined sources13
Helixi74 – 76Combined sources3
Beta strandi77 – 79Combined sources3
Turni80 – 83Combined sources4
Helixi84 – 86Combined sources3
Helixi87 – 99Combined sources13
Beta strandi103 – 108Combined sources6
Helixi114 – 116Combined sources3
Helixi122 – 124Combined sources3
Helixi135 – 154Combined sources20
Beta strandi162 – 166Combined sources5
Turni168 – 170Combined sources3
Helixi171 – 180Combined sources10
Helixi181 – 185Combined sources5
Helixi188 – 190Combined sources3
Beta strandi191 – 195Combined sources5
Beta strandi198 – 200Combined sources3
Beta strandi210 – 212Combined sources3
Beta strandi218 – 220Combined sources3
Helixi223 – 225Combined sources3
Helixi226 – 232Combined sources7
Helixi235 – 241Combined sources7
Beta strandi246 – 251Combined sources6
Helixi262 – 270Combined sources9
Beta strandi274 – 281Combined sources8
Beta strandi291 – 295Combined sources5
Beta strandi298 – 302Combined sources5
Helixi304 – 306Combined sources3
Helixi309 – 313Combined sources5
Beta strandi319 – 323Combined sources5
Beta strandi325 – 334Combined sources10
Helixi335 – 343Combined sources9
Helixi346 – 348Combined sources3
Beta strandi352 – 356Combined sources5
Beta strandi375 – 379Combined sources5
Helixi382 – 388Combined sources7
Beta strandi390 – 397Combined sources8
Helixi399 – 402Combined sources4
Beta strandi412 – 417Combined sources6
Helixi418 – 435Combined sources18
Beta strandi439 – 441Combined sources3
Beta strandi481 – 483Combined sources3
Turni485 – 487Combined sources3
Beta strandi489 – 491Combined sources3
Helixi495 – 498Combined sources4
Beta strandi505 – 510Combined sources6
Beta strandi513 – 516Combined sources4

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.
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.
OMAiYAGENLV.
OrthoDBiEOG091G05FO.
PhylomeDBiQ16222.
TreeFamiTF300611.

Family and domain databases

Gene3Di3.90.550.10. 1 hit.
InterProiIPR029044. Nucleotide-diphossugar_trans.
IPR002618. UDPGP_fam.
[Graphical view]
PANTHERiPTHR11952. PTHR11952. 2 hits.
PfamiPF01704. UDPGP. 1 hit.
[Graphical view]
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 rs1128539dbSNPEnsembl.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. Translation: CAH72978.1.
AL596325 Genomic DNA. Translation: CAH72979.1.
AL596325 Genomic DNA. Translation: CAH72980.1.
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

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. Translation: CAH72978.1.
AL596325 Genomic DNA. Translation: CAH72979.1.
AL596325 Genomic DNA. Translation: CAH72980.1.
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.
ProteinModelPortaliQ16222.
SMRiQ16222.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi112557. 20 interactors.
IntActiQ16222. 7 interactors.
STRINGi9606.ENSP00000356903.

PTM databases

iPTMnetiQ16222.
PhosphoSitePlusiQ16222.

Polymorphism and mutation databases

BioMutaiUAP1.
DMDMi68846235.

2D gel databases

REPRODUCTION-2DPAGEIPI00217816.

Proteomic databases

EPDiQ16222.
MaxQBiQ16222.
PaxDbiQ16222.
PeptideAtlasiQ16222.
PRIDEiQ16222.

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.
GeneCardsiUAP1.
H-InvDBHIX0001264.
HGNCiHGNC:12457. UAP1.
HPAiHPA014659.
MIMi602862. gene.
neXtProtiNX_Q16222.
OpenTargetsiENSG00000117143.
PharmGKBiPA37107.
GenAtlasiSearch...

Phylogenomic databases

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

Enzyme and pathway databases

UniPathwayiUPA00113; UER00533.
BioCyciZFISH:HS04098-MONOMER.
BRENDAi2.7.7.83. 2681.
ReactomeiR-HSA-446210. Synthesis of UDP-N-acetyl-glucosamine.
SABIO-RKQ16222.

Miscellaneous databases

ChiTaRSiUAP1. human.
EvolutionaryTraceiQ16222.
GeneWikiiUAP1.
GenomeRNAii6675.
PROiQ16222.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000117143.
CleanExiHS_UAP1.
ExpressionAtlasiQ16222. baseline and differential.
GenevisibleiQ16222. HS.

Family and domain databases

Gene3Di3.90.550.10. 1 hit.
InterProiIPR029044. Nucleotide-diphossugar_trans.
IPR002618. UDPGP_fam.
[Graphical view]
PANTHERiPTHR11952. PTHR11952. 2 hits.
PfamiPF01704. UDPGP. 1 hit.
[Graphical view]
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 historyi
Integrated into UniProtKB/Swiss-Prot: July 15, 1999
Last sequence update: July 5, 2005
Last modified: November 30, 2016
This is version 167 of the entry and version 3 of the sequence. [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. Human chromosome 1
    Human chromosome 1: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. PATHWAY comments
    Index of metabolic and biosynthesis pathways
  6. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  7. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.