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Reviewed, UniProtKB/Swiss-Prot Q16222 (UAP1_HUMAN)

Last modified November 25, 2008. Version 84. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (8) | Third-party data | Customize display text xml rdf/xml gff fasta
Names and origin · Protein attributes · General annotation (Comments) · Ontologies · Alternative products · Sequence annotation (Features) · Sequences · References · Cross-references · Entry information · Relevant documents

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- Recommended name:
            UDP-N-acetylgalactosamine pyrophosphorylase
              EC=2.7.7.-
        Alternative name(s):
            AGX-1
    2- Recommended name:
            UDP-N-acetylglucosamine pyrophosphorylase
              EC=2.7.7.23
        Alternative name(s):
            AGX-2
Gene names
Name: UAP1
Synonyms: SPAG2
OrganismHomo sapiens (Human)
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length522 AA.
Sequence statusComplete.
Sequence processingThe displayed sequence is not processed.
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-glucosamine 1-phosphate = diphosphate + UDP-N-acetyl-D-glucosamine.

Pathway

Nucleotide-sugar biosynthesis; UDP-N-acetyl-D-glucosamine biosynthesis; UDP-N-acetyl-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.

Involvement in disease

Antigen implicated in antibody-mediated male infertility.

Sequence similarities

Belongs to the UDPGP type 1 family.

Ontologies

Keywords

   Cellular componentCytoplasm
   Coding sequence diversityAlternative splicing
Polymorphism
   Molecular functionNucleotidyltransferase
Transferase
   Technical term3D-structure
Direct protein sequencing

Gene Ontology (GO)

   Biological processUDP-N-acetylglucosamine biosynthetic process Ref.2

Traceable author statement. Source: ProtInc

   Cellular componentcytoplasm

Inferred from electronic annotation. Source: UniProtKB-KW

   Molecular functionUDP-N-acetylglucosamine diphosphorylase activity Ref.2

Traceable author statement. Source: ProtInc

Complete GO annotation...

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: dbSNP rs1128539.
VAR_014935

Experimental info

Sequence conflict611H → Y in AAH09377. Ref.5
Sequence conflict4451G → S Ref.1 Ref.2
Sequence conflict4541S → Q Ref.1 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 »

50557,028
Isoform 3 [UniParc].

Checksum: 64D0360EFB15A528
Show »

52158,682

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: 8025165] [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: 9603950] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM AGX1).
Tissue: Testis.
[3]"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.,