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Q16222 (UAP1_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 143. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (7) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
UDP-N-acetylhexosamine pyrophosphorylase
Alternative name(s):
Antigen X
Short name=AGX
Sperm-associated antigen 2

Including the following 2 domains:

  1. UDP-N-acetylgalactosamine pyrophosphorylase
    EC=2.7.7.83
    Alternative name(s):
    AGX-1
  2. UDP-N-acetylglucosamine pyrophosphorylase
    EC=2.7.7.23
    Alternative name(s):
    AGX-2
Gene names
Name:UAP1
Synonyms:SPAG2
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length522 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

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. Ref.7

UTP + N-acetyl-alpha-D-glucosamine 1-phosphate = diphosphate + UDP-N-acetyl-alpha-D-glucosamine. Ref.7

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.

Subunit structure

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.

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.

Sequence similarities

Belongs to the UDPGP type 1 family.

Alternative products

This entry describes 3 isoforms produced by alternative splicing. [Align] [Select]
Isoform AGX2 (identifier: Q16222-1)

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.
Isoform AGX1 (identifier: Q16222-2)

Also known as: AGX-1;

The sequence of this isoform differs from the canonical sequence as follows:
     454-470: Missing.
Isoform 3 (identifier: Q16222-3)

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

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 522522UDP-N-acetylhexosamine pyrophosphorylase
PRO_0000185767

Regions

Motif108 – 1114Substrate binding
Motif303 – 3042Substrate binding

Sites

Binding site2231Substrate
Binding site4071Substrate

Natural variations

Alternative sequence454 – 47017Missing in isoform AGX1.
VSP_004483
Alternative sequence4541Missing in isoform 3.
VSP_014523
Natural variant4181P → H.
Corresponds to variant rs1128539 [ dbSNP | Ensembl ].
VAR_014935

Experimental info

Sequence conflict611H → Y in AAH09377. Ref.6
Sequence conflict4451G → S Ref.1
Sequence conflict4451G → S Ref.2
Sequence conflict4541S → Q Ref.1
Sequence conflict4541S → Q Ref.2

Secondary structure

............................................................................................. 522
Helix Strand Turn

Details...

Sequences

Sequence LengthMass (Da)Tools
Isoform AGX2 (AGX-2) [UniParc].

Last modified July 5, 2005. Version 3.
Checksum: 8A69B36D852B9472

FASTA52258,769
        10         20         30         40         50         60 
MNINDLKLTL SKAGQEHLLR FWNELEEAQQ VELYAELQAM NFEELNFFFQ KAIEGFNQSS 

        70         80         90        100        110        120 
HQKNVDARME PVPREVLGSA TRDQDQLQAW ESEGLFQISQ NKVAVLLLAG GQGTRLGVAY 

       130        140        150        160        170        180 
PKGMYDVGLP SRKTLFQIQA ERILKLQQVA EKYYGNKCII PWYIMTSGRT MESTKEFFTK 

       190        200        210        220        230        240 
HKYFGLKKEN VIFFQQGMLP AMSFDGKIIL EEKNKVSMAP DGNGGLYRAL AAQNIVEDME 

       250        260        270        280        290        300 
QRGIWSIHVY CVDNILVKVA DPRFIGFCIQ KGADCGAKVV EKTNPTEPVG VVCRVDGVYQ 

       310        320        330        340        350        360 
VVEYSEISLA TAQKRSSDGR LLFNAGNIAN HFFTVPFLRD VVNVYEPQLQ HHVAQKKIPY 

       370        380        390        400        410        420 
VDTQGQLIKP DKPNGIKMEK FVFDIFQFAK KFVVYEVLRE DEFSPLKNAD SQNGKDNPTT 

       430        440        450        460        470        480 
ARHALMSLHH CWVLNAGGHF IDENGSRLPA IPRSATNGKS ETITADVNHN LKDANDVPIQ 

       490        500        510        520 
CEISPLISYA GEGLESYVAD KEFHAPLIID ENGVHELVKN GI 

« Hide

Isoform AGX1 (AGX-1) [UniParc].

Checksum: 6BDB4DA54D637317
Show »

FASTA50557,028
Isoform 3 [UniParc].

Checksum: 64D0360EFB15A528
Show »

FASTA52158,682

References

« Hide 'large scale' references
[1]"Characterization of a human antigen with sera from infertile patients."
Diekman A.B., Goldberg E.
Biol. Reprod. 50:1087-1093(1994) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS AGX1; AGX2 AND 3).
Tissue: Testis.
[2]"The eukaryotic UDP-N-acetylglucosamine pyrophosphorylases: gene cloning, protein expression, and catalytic mechanism."
Mio T., Yabe T., Arisawa M., Yamada-Okabe H.
J. Biol. Chem. 273:14392-14397(1998) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM AGX1).
Tissue: Testis.
[3]"Complete sequencing and characterization of 21,243 full-length human cDNAs."
Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S. expand/collapse author list , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM AGX1).
[4]"The DNA sequence and biological annotation of human chromosome 1."
Gregory S.G., Barlow K.F., McLay K.E., Kaul R., Swarbreck D., Dunham A., Scott C.E., Howe K.L., Woodfine K., Spencer C.C.A., Jones M.C., Gillson C., Searle S., Zhou Y., Kokocinski F., McDonald L., Evans R., Phillips K. expand/collapse author list , Atkinson A., Cooper R., Jones C., Hall R.E., Andrews T.D., Lloyd C., Ainscough R., Almeida J.P., Ambrose K.D., Anderson F., Andrew R.W., Ashwell R.I.S., Aubin K., Babbage A.K., Bagguley C.L., Bailey J., Beasley H., Bethel G., Bird C.P., Bray-Allen S., Brown J.Y., Brown A.J., Buckley D., Burton J., Bye J., Carder C., Chapman J.C., Clark S.Y., Clarke G., Clee C., Cobley V., Collier R.E., Corby N., Coville G.J., Davies J., Deadman R., Dunn M., Earthrowl M., Ellington A.G., Errington H., Frankish A., Frankland J., French L., Garner P., Garnett J., Gay L., Ghori M.R.J., Gibson R., Gilby L.M., Gillett W., Glithero R.J., Grafham D.V., Griffiths C., Griffiths-Jones S., Grocock R., Hammond S., Harrison E.S.I., Hart E., Haugen E., Heath P.D., Holmes S., Holt K., Howden P.J., Hunt A.R., Hunt S.E., Hunter G., Isherwood J., James R., Johnson C., Johnson D., Joy A., Kay M., Kershaw J.K., Kibukawa M., Kimberley A.M., King A., Knights A.J., Lad H., Laird G., Lawlor S., Leongamornlert D.A., Lloyd D.M., Loveland J., Lovell J., Lush M.J., Lyne R., Martin S., Mashreghi-Mohammadi M., Matthews L., Matthews N.S.W., McLaren S., Milne S., Mistry S., Moore M.J.F., Nickerson T., O'Dell C.N., Oliver K., Palmeiri A., Palmer S.A., Parker A., Patel D., Pearce A.V., Peck A.I., Pelan S., Phelps K., Phillimore B.J., Plumb R., Rajan J., Raymond C., Rouse G., Saenphimmachak C., Sehra H.K., Sheridan E., Shownkeen R., Sims S., Skuce C.D., Smith M., Steward C., Subramanian S., Sycamore N., Tracey A., Tromans A., Van Helmond Z., Wall M., Wallis J.M., White S., Whitehead S.L., Wilkinson J.E., Willey D.L., Williams H., Wilming L., Wray P.W., Wu Z., Coulson A., Vaudin M., Sulston J.E., Durbin R.M., Hubbard T., Wooster R., Dunham I., Carter N.P., McVean G., Ross M.T., Harrow J., Olson M.V., Beck S., Rogers J., Bentley D.R.
Nature 441:315-321(2006) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA] (ISOFORMS AGX1; AGX2 AND 3).
[5]Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. expand/collapse author list , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., Venter J.C.
Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[6]"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
The MGC Project Team
Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM AGX1).
Tissue: Muscle.
[7]"A 17-amino acid insert changes UDP-N-acetylhexosamine pyrophosphorylase specificity from UDP-GalNAc to UDP-GlcNAc."
Wang-Gillam A., Pastuszak I., Elbein A.D.
J. Biol. Chem. 273:27055-27057(1998) [PubMed] [Europe PMC] [Abstract]
Cited for: PARTIAL PROTEIN SEQUENCE, ALTERNATIVE SPLICING, CATALYTIC ACTIVITY, CHARACTERIZATION.
Tissue: Mammary cancer.
[8]"Initial characterization of the human central proteome."
Burkard T.R., Planyavsky M., Kaupe I., Breitwieser F.P., Buerckstuemmer T., Bennett K.L., Superti-Furga G., Colinge J.
BMC Syst. Biol. 5:17-17(2011) [PubMed] [Europe PMC] [Abstract]
Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
[9]"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."
Peneff C., Ferrari P., Charrier V., Taburet Y., Monnier C., Zamboni V., Winter J., Harnois M., Fassy F., Bourne Y.
EMBO J. 20:6191-6202(2001) [PubMed] [Europe PMC] [Abstract]
Cited for: X-RAY CRYSTALLOGRAPHY (1.9 ANGSTROMS) IN COMPLEX WITH SUBSTRATE.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
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.
CCDSCCDS1240.1. [Q16222-2]
RefSeqNP_003106.3. NM_003115.4. [Q16222-2]
XP_005245519.1. XM_005245462.1. [Q16222-1]
XP_005245522.1. XM_005245465.2. [Q16222-3]
UniGeneHs.492859.

3D structure databases

PDBe
RCSB-PDB
PDBj
EntryMethodResolution (Å)ChainPositionsPDBsum
1JV1X-ray1.90A/B1-522[»]
1JV3X-ray2.20A/B1-522[»]
1JVDX-ray2.40A/B1-522[»]
1JVGX-ray2.30A/B1-522[»]
DisProtDP00363.
ProteinModelPortalQ16222.
SMRQ16222. Positions 1-518.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid112557. 9 interactions.
STRING9606.ENSP00000356903.

PTM databases

PhosphoSiteQ16222.

Polymorphism databases

DMDM68846235.

2D gel databases

REPRODUCTION-2DPAGEIPI00217816.

Proteomic databases

MaxQBQ16222.
PaxDbQ16222.
PRIDEQ16222.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000271469; ENSP00000271469; ENSG00000117143. [Q16222-1]
ENST00000367924; ENSP00000356901; ENSG00000117143. [Q16222-3]
ENST00000367925; ENSP00000356902; ENSG00000117143. [Q16222-1]
ENST00000367926; ENSP00000356903; ENSG00000117143. [Q16222-2]
GeneID6675.
KEGGhsa:6675.
UCSCuc001gce.4. human. [Q16222-2]

Organism-specific databases

CTD6675.
GeneCardsGC01P162531.
H-InvDBHIX0001264.
HGNCHGNC:12457. UAP1.
HPAHPA014659.
MIM602862. gene.
neXtProtNX_Q16222.
PharmGKBPA37107.
GenAtlasSearch...

Phylogenomic databases

eggNOGCOG4284.
HOGENOMHOG000186273.
HOVERGENHBG018024.
InParanoidQ16222.
KOK00972.
OMAVFFQQGM.
PhylomeDBQ16222.
TreeFamTF300611.

Enzyme and pathway databases

ReactomeREACT_17015. Metabolism of proteins.
SABIO-RKQ16222.
UniPathwayUPA00113; UER00533.

Gene expression databases

ArrayExpressQ16222.
BgeeQ16222.
CleanExHS_UAP1.
GenevestigatorQ16222.

Family and domain databases

Gene3D3.90.550.10. 1 hit.
InterProIPR029044. Nucleotide-diphossugar_trans.
IPR002618. UDPGP_trans.
[Graphical view]
PANTHERPTHR11952. PTHR11952. 1 hit.
PfamPF01704. UDPGP. 1 hit.
[Graphical view]
SUPFAMSSF53448. SSF53448. 1 hit.
ProtoNetSearch...

Other

EvolutionaryTraceQ16222.
GeneWikiUAP1.
GenomeRNAi6675.
NextBio26027.
PROQ16222.
SOURCESearch...

Entry information

Entry nameUAP1_HUMAN
AccessionPrimary (citable) accession number: Q16222
Secondary accession number(s): B2R6R8 expand/collapse secondary AC list , Q5VTA9, Q5VTB0, Q5VTB1, Q96GM2
Entry history
Integrated into UniProtKB/Swiss-Prot: July 15, 1999
Last sequence update: July 5, 2005
Last modified: July 9, 2014
This is version 143 of the entry and version 3 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

PDB cross-references

Index of Protein Data Bank (PDB) cross-references

PATHWAY comments

Index of metabolic and biosynthesis pathways

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 1

Human chromosome 1: entries, gene names and cross-references to MIM