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Q9Y5P6

- GMPPB_HUMAN

UniProt

Q9Y5P6 - GMPPB_HUMAN

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Protein
Mannose-1-phosphate guanyltransferase beta
Gene
GMPPB
Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5 - Experimental evidence at protein leveli

Functioni

Catalytic activityi

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

Pathwayi

GO - Molecular functioni

  1. GTP binding Source: UniProtKB-KW
  2. mannose-1-phosphate guanylyltransferase activity Source: UniProtKB-EC
Complete GO annotation...

GO - Biological processi

  1. GDP-mannose biosynthetic process Source: Reactome
  2. cellular protein metabolic process Source: Reactome
  3. dolichol-linked oligosaccharide biosynthetic process Source: Reactome
  4. post-translational protein modification Source: Reactome
  5. protein N-linked glycosylation via asparagine Source: Reactome
Complete GO annotation...

Keywords - Molecular functioni

Nucleotidyltransferase, Transferase

Keywords - Ligandi

GTP-binding, Nucleotide-binding

Enzyme and pathway databases

ReactomeiREACT_22423. Synthesis of GDP-mannose.
UniPathwayiUPA00126; UER00930.

Names & Taxonomyi

Protein namesi
Recommended 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 namesi
Name:GMPPB
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 3

Organism-specific databases

HGNCiHGNC:22932. GMPPB.

Subcellular locationi

Cytoplasm 1 Publication

GO - Cellular componenti

  1. cytoplasm Source: UniProtKB
  2. extracellular vesicular exosome Source: UniProt
  3. mitochondrion Source: Ensembl
Complete GO annotation...

Keywords - Cellular componenti

Cytoplasm

Pathology & Biotechi

Involvement in diseasei

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.1 Publication
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti334 – 3341D → N in MDDGA14; causes protein aggregation. 1 Publication
VAR_070148
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.
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti32 – 321P → L in MDDGB14; causes protein aggregation. 1 Publication
VAR_070144
Natural varianti185 – 1851R → C in MDDGB14; the protein remains distributed in the cytoplasm and has no discernable changes compared to wild-type. 1 Publication
VAR_070145
Natural varianti287 – 2871R → Q in MDDGB14. 1 Publication
VAR_070146
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.1 Publication
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti22 – 221P → S in MDDGC14; causes protein aggregation. 1 Publication
VAR_070142
Natural varianti27 – 271D → H in MDDGC14; the protein remains distributed in the cytoplasm and has no discernable changes compared to wild-type. 1 Publication
VAR_070143
Natural varianti330 – 3301V → I in MDDGC14; causes protein aggregation. 1 Publication
VAR_070147

Keywords - Diseasei

Congenital muscular dystrophy, Disease mutation, Dystroglycanopathy, Limb-girdle muscular dystrophy

Organism-specific databases

MIMi615350. phenotype.
615351. phenotype.
615352. phenotype.
Orphaneti363623. 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.
PharmGKBiPA134875590.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 360360Mannose-1-phosphate guanyltransferase beta
PRO_0000307162Add
BLAST

Proteomic databases

MaxQBiQ9Y5P6.
PaxDbiQ9Y5P6.
PRIDEiQ9Y5P6.

PTM databases

PhosphoSiteiQ9Y5P6.

Expressioni

Gene expression databases

BgeeiQ9Y5P6.
CleanExiHS_GMPPB.
GenevestigatoriQ9Y5P6.

Organism-specific databases

HPAiHPA014657.

Interactioni

Subunit structurei

Associates with GMPPA By similarity.

Protein-protein interaction databases

BioGridi118966. 12 interactions.
IntActiQ9Y5P6. 1 interaction.
MINTiMINT-1461031.
STRINGi9606.ENSP00000309092.

Structurei

3D structure databases

ProteinModelPortaliQ9Y5P6.
SMRiQ9Y5P6. Positions 1-333.

Family & Domainsi

Sequence similaritiesi

Phylogenomic databases

eggNOGiCOG1208.
HOGENOMiHOG000283479.
HOVERGENiHBG107955.
KOiK00966.
OMAiNAKIFSS.
OrthoDBiEOG7CRTPW.
PhylomeDBiQ9Y5P6.
TreeFamiTF300718.

Family and domain databases

Gene3Di3.90.550.10. 1 hit.
InterProiIPR001451. Hexapep_transf.
IPR018357. Hexapep_transf_CS.
IPR005835. NTP_transferase.
IPR029044. Nucleotide-diphossugar_trans.
[Graphical view]
PfamiPF00132. Hexapep. 1 hit.
PF00483. NTP_transferase. 1 hit.
[Graphical view]
SUPFAMiSSF53448. SSF53448. 1 hit.
PROSITEiPS00101. HEXAPEP_TRANSFERASES. 1 hit.
[Graphical view]

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. Align

Isoform 1 (identifier: Q9Y5P6-1) [UniParc]FASTAAdd to Basket

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

MKALILVGGY GTRLRPLTLS TPKPLVDFCN KPILLHQVEA LAAAGVDHVI    50
LAVSYMSQVL EKEMKAQEQR LGIRISMSHE EEPLGTAGPL ALARDLLSET 100
ADPFFVLNSD VICDFPFQAM VQFHRHHGQE GSILVTKVEE PSKYGVVVCE 150
ADTGRIHRFV EKPQVFVSNK INAGMYILSP AVLQRIQLQP TSIEKEVFPI 200
MAKEGQLYAM ELQGFWMDIG QPKDFLTGMC LFLQSLRQKQ PERLCSGPGI 250
VGNVLVDPSA RIGQNCSIGP NVSLGPGVVV EDGVCIRRCT VLRDARIRSH 300
SWLESCIVGW RCRVGQWVRM ENVTVLGEDV IVNDELYLNG ASVLPHKSIG 350
ESVPEPRIIM 360
Length:360
Mass (Da):39,834
Last modified:October 23, 2007 - v2
Checksum:i8212C77BBB2EF960
GO
Isoform 2 (identifier: Q9Y5P6-2) [UniParc]FASTAAdd to Basket

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

Show »
Length:387
Mass (Da):42,622
Checksum:iE6F568BDB5D1BF1D
GO

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti22 – 221P → S in MDDGC14; causes protein aggregation. 1 Publication
VAR_070142
Natural varianti27 – 271D → H in MDDGC14; the protein remains distributed in the cytoplasm and has no discernable changes compared to wild-type. 1 Publication
VAR_070143
Natural varianti32 – 321P → L in MDDGB14; causes protein aggregation. 1 Publication
VAR_070144
Natural varianti126 – 1261H → D.
Corresponds to variant rs34345884 [ dbSNP | Ensembl ].
VAR_035372
Natural varianti184 – 1841Q → R.3 Publications
Corresponds to variant rs1466685 [ dbSNP | Ensembl ].
VAR_035373
Natural varianti185 – 1851R → C in MDDGB14; the protein remains distributed in the cytoplasm and has no discernable changes compared to wild-type. 1 Publication
VAR_070145
Natural varianti287 – 2871R → Q in MDDGB14. 1 Publication
VAR_070146
Natural varianti330 – 3301V → I in MDDGC14; causes protein aggregation. 1 Publication
VAR_070147
Natural varianti334 – 3341D → N in MDDGA14; causes protein aggregation. 1 Publication
VAR_070148

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei317 – 3171W → WVSLWAGLGGERGGECACLP DKAYPLLE in isoform 2.
VSP_028619

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
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.
CCDSiCCDS2802.1. [Q9Y5P6-2]
CCDS2803.1. [Q9Y5P6-1]
RefSeqiNP_037466.2. NM_013334.3.
NP_068806.1. NM_021971.2.
UniGeneiHs.567488.

Genome annotation databases

EnsembliENST00000308375; ENSP00000309092; ENSG00000173540. [Q9Y5P6-2]
ENST00000308388; ENSP00000311130; ENSG00000173540. [Q9Y5P6-1]
ENST00000480687; ENSP00000418565; ENSG00000173540. [Q9Y5P6-1]
GeneIDi29925.
KEGGihsa:29925.
UCSCiuc003cxk.1. human. [Q9Y5P6-1]
uc003cxl.1. human. [Q9Y5P6-2]

Polymorphism databases

DMDMi160013885.

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
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 .
CCDSi CCDS2802.1. [Q9Y5P6-2 ]
CCDS2803.1. [Q9Y5P6-1 ]
RefSeqi NP_037466.2. NM_013334.3.
NP_068806.1. NM_021971.2.
UniGenei Hs.567488.

3D structure databases

ProteinModelPortali Q9Y5P6.
SMRi Q9Y5P6. Positions 1-333.
ModBasei Search...

Protein-protein interaction databases

BioGridi 118966. 12 interactions.
IntActi Q9Y5P6. 1 interaction.
MINTi MINT-1461031.
STRINGi 9606.ENSP00000309092.

PTM databases

PhosphoSitei Q9Y5P6.

Polymorphism databases

DMDMi 160013885.

Proteomic databases

MaxQBi Q9Y5P6.
PaxDbi Q9Y5P6.
PRIDEi Q9Y5P6.

Protocols and materials databases

Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000308375 ; ENSP00000309092 ; ENSG00000173540 . [Q9Y5P6-2 ]
ENST00000308388 ; ENSP00000311130 ; ENSG00000173540 . [Q9Y5P6-1 ]
ENST00000480687 ; ENSP00000418565 ; ENSG00000173540 . [Q9Y5P6-1 ]
GeneIDi 29925.
KEGGi hsa:29925.
UCSCi uc003cxk.1. human. [Q9Y5P6-1 ]
uc003cxl.1. human. [Q9Y5P6-2 ]

Organism-specific databases

CTDi 29925.
GeneCardsi GC03M049733.
HGNCi HGNC:22932. GMPPB.
HPAi HPA014657.
MIMi 615320. gene.
615350. phenotype.
615351. phenotype.
615352. phenotype.
neXtProti NX_Q9Y5P6.
Orphaneti 363623. 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.
PharmGKBi PA134875590.
GenAtlasi Search...

Phylogenomic databases

eggNOGi COG1208.
HOGENOMi HOG000283479.
HOVERGENi HBG107955.
KOi K00966.
OMAi NAKIFSS.
OrthoDBi EOG7CRTPW.
PhylomeDBi Q9Y5P6.
TreeFami TF300718.

Enzyme and pathway databases

UniPathwayi UPA00126 ; UER00930 .
Reactomei REACT_22423. Synthesis of GDP-mannose.

Miscellaneous databases

GeneWikii GMPPB.
GenomeRNAii 29925.
NextBioi 52539.
PROi Q9Y5P6.
SOURCEi Search...

Gene expression databases

Bgeei Q9Y5P6.
CleanExi HS_GMPPB.
Genevestigatori Q9Y5P6.

Family and domain databases

Gene3Di 3.90.550.10. 1 hit.
InterProi IPR001451. Hexapep_transf.
IPR018357. Hexapep_transf_CS.
IPR005835. NTP_transferase.
IPR029044. Nucleotide-diphossugar_trans.
[Graphical view ]
Pfami PF00132. Hexapep. 1 hit.
PF00483. NTP_transferase. 1 hit.
[Graphical view ]
SUPFAMi SSF53448. SSF53448. 1 hit.
PROSITEi PS00101. HEXAPEP_TRANSFERASES. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  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.
    , 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.
    , 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. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
  6. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
  7. 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.

Entry informationi

Entry nameiGMPPB_HUMAN
AccessioniPrimary (citable) accession number: Q9Y5P6
Secondary accession number(s): A8K6N5, Q9H7U3
Entry historyi
Integrated into UniProtKB/Swiss-Prot: October 23, 2007
Last sequence update: October 23, 2007
Last modified: September 3, 2014
This is version 116 of the entry and version 2 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

Complete proteome, Reference proteome

Documents

  1. Human chromosome 3
    Human chromosome 3: 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. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3

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