Skip Header

You are using a version of Internet Explorer that may not display all features of this website. Please upgrade to a modern browser.
Contribute Send feedback
Read comments (?) or add your own

Q9Y5P6 (GMPPB_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 115. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (6) | 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:
Mannose-1-phosphate guanyltransferase beta

EC=2.7.7.13
Alternative name(s):
GDP-mannose pyrophosphorylase B
GTP-mannose-1-phosphate guanylyltransferase beta
Gene names
Name:GMPPB
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length360 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Catalytic activity

GTP + alpha-D-mannose 1-phosphate = diphosphate + GDP-mannose.

Pathway

Nucleotide-sugar biosynthesis; GDP-alpha-D-mannose biosynthesis; GDP-alpha-D-mannose from alpha-D-mannose 1-phosphate (GTP route): step 1/1.

Subunit structure

Associates with GMPPA By similarity.

Subcellular location

Cytoplasm Ref.7.

Involvement in disease

Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A14 (MDDGA14) [MIM:615350]: An autosomal recessive disorder characterized by congenital muscular dystrophy associated with brain anomalies, eye malformations, and profound mental retardation. The disorder includes a severe form designated as Walker-Warburg syndrome and a less severe phenotype known as muscle-eye-brain disease. MDDGA14 features include increased muscle tone, microcephaly, cleft palate, feeding difficulties, severe muscle weakness, sensorineural hearing loss, cerebellar hypoplasia, ataxia, and retinal dysfunction.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.7

Muscular dystrophy-dystroglycanopathy congenital with mental retardation B14 (MDDGB14) [MIM:615351]: A congenital muscular dystrophy characterized by severe muscle weakness apparent in infancy and mental retardation. Some patients may have additional features, such as microcephaly, cardiac dysfunction, seizures, or cerebellar hypoplasia.
Note: The disease is caused by mutations affecting the gene represented in this entry.

Muscular dystrophy-dystroglycanopathy limb-girdle C14 (MDDGC14) [MIM:615352]: An autosomal recessive form of muscular dystrophy characterized by mild proximal muscle weakness with onset in early childhood. Some patients may have additional features, such as mild intellectual disability or seizures.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.7

Sequence similarities

Belongs to the transferase hexapeptide repeat family.

Alternative products

This entry describes 2 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: Q9Y5P6-1)

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 2 (identifier: Q9Y5P6-2)

The sequence of this isoform differs from the canonical sequence as follows:
     317-317: W → WVSLWAGLGGERGGECACLPDKAYPLLE

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 360360Mannose-1-phosphate guanyltransferase beta
PRO_0000307162

Natural variations

Alternative sequence3171W → WVSLWAGLGGERGGECACLP DKAYPLLE in isoform 2.
VSP_028619
Natural variant221P → S in MDDGC14; causes protein aggregation. Ref.7
VAR_070142
Natural variant271D → H in MDDGC14; the protein remains distributed in the cytoplasm and has no discernable changes compared to wild-type. Ref.7
VAR_070143
Natural variant321P → L in MDDGB14; causes protein aggregation. Ref.7
VAR_070144
Natural variant1261H → D.
Corresponds to variant rs34345884 [ dbSNP | Ensembl ].
VAR_035372
Natural variant1841Q → R. Ref.1 Ref.2 Ref.4
Corresponds to variant rs1466685 [ dbSNP | Ensembl ].
VAR_035373
Natural variant1851R → C in MDDGB14; the protein remains distributed in the cytoplasm and has no discernable changes compared to wild-type. Ref.7
VAR_070145
Natural variant2871R → Q in MDDGB14. Ref.7
VAR_070146
Natural variant3301V → I in MDDGC14; causes protein aggregation. Ref.7
VAR_070147
Natural variant3341D → N in MDDGA14; causes protein aggregation. Ref.7
VAR_070148

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 [UniParc].

Last modified October 23, 2007. Version 2.
Checksum: 8212C77BBB2EF960

FASTA36039,834
        10         20         30         40         50         60 
MKALILVGGY GTRLRPLTLS TPKPLVDFCN KPILLHQVEA LAAAGVDHVI LAVSYMSQVL 

        70         80         90        100        110        120 
EKEMKAQEQR LGIRISMSHE EEPLGTAGPL ALARDLLSET ADPFFVLNSD VICDFPFQAM 

       130        140        150        160        170        180 
VQFHRHHGQE GSILVTKVEE PSKYGVVVCE ADTGRIHRFV EKPQVFVSNK INAGMYILSP 

       190        200        210        220        230        240 
AVLQRIQLQP TSIEKEVFPI MAKEGQLYAM ELQGFWMDIG QPKDFLTGMC LFLQSLRQKQ 

       250        260        270        280        290        300 
PERLCSGPGI VGNVLVDPSA RIGQNCSIGP NVSLGPGVVV EDGVCIRRCT VLRDARIRSH 

       310        320        330        340        350        360 
SWLESCIVGW RCRVGQWVRM ENVTVLGEDV IVNDELYLNG ASVLPHKSIG ESVPEPRIIM 

« Hide

Isoform 2 [UniParc].

Checksum: E6F568BDB5D1BF1D
Show »

FASTA38742,622

References

« Hide 'large scale' references
[1]"Human homolog of GDP-mannose pyrophosphorylase."
Matthijs G., Schollen E., Dierickx D.
Submitted (MAR-1999) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), VARIANT ARG-184.
[2]"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] (ISOFORMS 1 AND 2), VARIANT ARG-184.
Tissue: Placenta.
[3]"The DNA sequence, annotation and analysis of human chromosome 3."
Muzny D.M., Scherer S.E., Kaul R., Wang J., Yu J., Sudbrak R., Buhay C.J., Chen R., Cree A., Ding Y., Dugan-Rocha S., Gill R., Gunaratne P., Harris R.A., Hawes A.C., Hernandez J., Hodgson A.V., Hume J. expand/collapse author list , Jackson A., Khan Z.M., Kovar-Smith C., Lewis L.R., Lozado R.J., Metzker M.L., Milosavljevic A., Miner G.R., Morgan M.B., Nazareth L.V., Scott G., Sodergren E., Song X.-Z., Steffen D., Wei S., Wheeler D.A., Wright M.W., Worley K.C., Yuan Y., Zhang Z., Adams C.Q., Ansari-Lari M.A., Ayele M., Brown M.J., Chen G., Chen Z., Clendenning J., Clerc-Blankenburg K.P., Chen R., Chen Z., Davis C., Delgado O., Dinh H.H., Dong W., Draper H., Ernst S., Fu G., Gonzalez-Garay M.L., Garcia D.K., Gillett W., Gu J., Hao B., Haugen E., Havlak P., He X., Hennig S., Hu S., Huang W., Jackson L.R., Jacob L.S., Kelly S.H., Kube M., Levy R., Li Z., Liu B., Liu J., Liu W., Lu J., Maheshwari M., Nguyen B.-V., Okwuonu G.O., Palmeiri A., Pasternak S., Perez L.M., Phelps K.A., Plopper F.J., Qiang B., Raymond C., Rodriguez R., Saenphimmachak C., Santibanez J., Shen H., Shen Y., Subramanian S., Tabor P.E., Verduzco D., Waldron L., Wang J., Wang J., Wang Q., Williams G.A., Wong G.K.-S., Yao Z., Zhang J., Zhang X., Zhao G., Zhou J., Zhou Y., Nelson D., Lehrach H., Reinhardt R., Naylor S.L., Yang H., Olson M., Weinstock G., Gibbs R.A.
Nature 440:1194-1198(2006) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[4]"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 1), VARIANT ARG-184.
Tissue: Brain and Eye.
[5]"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].
[6]"N-terminal acetylome analyses and functional insights of the N-terminal acetyltransferase NatB."
Van Damme P., Lasa M., Polevoda B., Gazquez C., Elosegui-Artola A., Kim D.S., De Juan-Pardo E., Demeyer K., Hole K., Larrea E., Timmerman E., Prieto J., Arnesen T., Sherman F., Gevaert K., Aldabe R.
Proc. Natl. Acad. Sci. U.S.A. 109:12449-12454(2012) [PubMed] [Europe PMC] [Abstract]
Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
[7]"Mutations in GDP-mannose pyrophosphorylase B cause congenital and limb-girdle muscular dystrophies associated with hypoglycosylation of alpha-dystroglycan."
UK10K Consortium
Carss K.J., Stevens E., Foley A.R., Cirak S., Riemersma M., Torelli S., Hoischen A., Willer T., van Scherpenzeel M., Moore S.A., Messina S., Bertini E., Boennemann C.G., Abdenur J.E., Grosmann C.M., Kesari A., Punetha J., Quinlivan R. expand/collapse author list , Waddell L.B., Young H.K., Wraige E., Yau S., Brodd L., Feng L., Sewry C., MacArthur D.G., North K.N., Hoffman E., Stemple D.L., Hurles M.E., van Bokhoven H., Campbell K.P., Lefeber D.J., Lin Y.Y., Muntoni F.
Am. J. Hum. Genet. 93:29-41(2013) [PubMed] [Europe PMC] [Abstract]
Cited for: SUBCELLULAR LOCATION, VARIANT MDDGA14 ASN-334, VARIANTS MDDGB14 LEU-32; CYS-185 AND GLN-287, VARIANTS MDDGC14 SER-22; HIS-27 AND ILE-330, CHARACTERIZATION OF VARIANT MDDGA14 ASN-334, CHARACTERIZATION OF VARIANTS MDDGB14 LEU-32; CYS-185 AND GLN-287, CHARACTERIZATION OF VARIANTS MDDGC14 SER-22; HIS-27 AND ILE-330.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
AF135421 mRNA. Translation: AAD38516.1.
AK024319 mRNA. Translation: BAB14882.1.
AK291700 mRNA. Translation: BAF84389.1.
AC099668 Genomic DNA. No translation available.
BC001141 mRNA. Translation: AAH01141.1.
BC008033 mRNA. Translation: AAH08033.1.
CCDSCCDS2802.1. [Q9Y5P6-2]
CCDS2803.1. [Q9Y5P6-1]
RefSeqNP_037466.2. NM_013334.3.
NP_068806.1. NM_021971.2.
UniGeneHs.567488.

3D structure databases

ProteinModelPortalQ9Y5P6.
SMRQ9Y5P6. Positions 1-333.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid118966. 12 interactions.
IntActQ9Y5P6. 1 interaction.
MINTMINT-1461031.
STRING9606.ENSP00000309092.

PTM databases

PhosphoSiteQ9Y5P6.

Polymorphism databases

DMDM160013885.

Proteomic databases

MaxQBQ9Y5P6.
PaxDbQ9Y5P6.
PRIDEQ9Y5P6.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000308375; ENSP00000309092; ENSG00000173540. [Q9Y5P6-2]
ENST00000308388; ENSP00000311130; ENSG00000173540. [Q9Y5P6-1]
ENST00000480687; ENSP00000418565; ENSG00000173540. [Q9Y5P6-1]
GeneID29925.
KEGGhsa:29925.
UCSCuc003cxk.1. human. [Q9Y5P6-1]
uc003cxl.1. human. [Q9Y5P6-2]

Organism-specific databases

CTD29925.
GeneCardsGC03M049733.
HGNCHGNC:22932. GMPPB.
HPAHPA014657.
MIM615320. gene.
615350. phenotype.
615351. phenotype.
615352. phenotype.
neXtProtNX_Q9Y5P6.
Orphanet363623. Autosomal recessive limb-girdle muscular dystrophy type 2T.
370959. Congenital muscular dystrophy with cerebellar involvement.
370968. Congenital muscular dystrophy with intellectual disability.
588. Muscle-eye-brain disease.
PharmGKBPA134875590.
GenAtlasSearch...

Phylogenomic databases

eggNOGCOG1208.
HOGENOMHOG000283479.
HOVERGENHBG107955.
KOK00966.
OMANAKIFSS.
OrthoDBEOG7CRTPW.
PhylomeDBQ9Y5P6.
TreeFamTF300718.

Enzyme and pathway databases

ReactomeREACT_17015. Metabolism of proteins.
UniPathwayUPA00126; UER00930.

Gene expression databases

BgeeQ9Y5P6.
CleanExHS_GMPPB.
GenevestigatorQ9Y5P6.

Family and domain databases

Gene3D3.90.550.10. 1 hit.
InterProIPR001451. Hexapep_transf.
IPR018357. Hexapep_transf_CS.
IPR005835. NTP_transferase.
IPR029044. Nucleotide-diphossugar_trans.
[Graphical view]
PfamPF00132. Hexapep. 1 hit.
PF00483. NTP_transferase. 1 hit.
[Graphical view]
SUPFAMSSF53448. SSF53448. 1 hit.
PROSITEPS00101. HEXAPEP_TRANSFERASES. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

GeneWikiGMPPB.
GenomeRNAi29925.
NextBio52539.
PROQ9Y5P6.
SOURCESearch...

Entry information

Entry nameGMPPB_HUMAN
AccessionPrimary (citable) accession number: Q9Y5P6
Secondary accession number(s): A8K6N5, Q9H7U3
Entry history
Integrated into UniProtKB/Swiss-Prot: October 23, 2007
Last sequence update: October 23, 2007
Last modified: July 9, 2014
This is version 115 of the entry and version 2 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

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 3

Human chromosome 3: entries, gene names and cross-references to MIM