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Q96IJ6

- GMPPA_HUMAN

UniProt

Q96IJ6 - GMPPA_HUMAN

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Protein

Mannose-1-phosphate guanyltransferase alpha

Gene

GMPPA

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli

Functioni

May serve as a regulatory subunit and allow allosteric feedback inhibition of GMPPB by GDP-mannose.1 Publication

GO - Molecular functioni

  1. nucleotidyltransferase activity Source: InterPro

GO - Biological processi

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

Enzyme and pathway databases

ReactomeiREACT_22423. Synthesis of GDP-mannose.

Names & Taxonomyi

Protein namesi
Recommended name:
Mannose-1-phosphate guanyltransferase alpha
Alternative name(s):
GDP-mannose pyrophosphorylase A
Short name:
GMPP-alpha
GTP-mannose-1-phosphate guanylyltransferase alpha
Gene namesi
Name:GMPPA
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 2

Organism-specific databases

HGNCiHGNC:22923. GMPPA.

Subcellular locationi

Cytoplasm 1 Publication
Note: Myc-tagged GMPPA shows a diffuse cytoplasmic and nuclear pattern in transfected COS-7 cells.

GO - Cellular componenti

  1. cytoplasm Source: UniProtKB-KW
  2. extracellular vesicular exosome Source: UniProtKB
Complete GO annotation...

Keywords - Cellular componenti

Cytoplasm

Pathology & Biotechi

Involvement in diseasei

Alacrima, achalasia, and mental retardation syndrome (AAMR) [MIM:615510]: An autosomal recessive disorder characterized by onset of alacrima, achalasia, and mental retardation at birth or in early infancy. More variable features include hypotonia, gait abnormalities, anisocoria, and visual or hearing deficits. The disorder shows similarity to the triple A syndrome, but patients with AAMR do not have adrenal insufficiency.1 Publication
Note: The disease is caused by mutations affecting the gene represented in this entry.
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti182 – 1821G → D in AAMR; drastically reduced protein expression in fibroblasts and altered subcellular location; no effect on transferrin N-glycosylation profile. 1 Publication
VAR_070203
Natural varianti334 – 3341T → M in AAMR; no effect on transferrin N-glycosylation profile. 1 Publication
VAR_070204
Natural varianti334 – 3341T → P in AAMR; drastically reduced protein expression in fibroblasts, altered subcellular location and drastically increased GDP-mannose levels in lymphoblast; no effect on GDP-mannose pyrophosphorylase activity in lymphoblasts, nor on transferrin N-glycosylation profile. 1 Publication
VAR_070205
Natural varianti390 – 3901R → P in AAMR; drastically reduced protein expression in fibroblasts; no effect on transferrin N-glycosylation profile. 1 Publication
VAR_070206
Natural varianti401 – 4011N → T in AAMR; drastically reduced protein expression in fibroblasts and drastically increased GDP-mannose levels in lymphoblast; no effect on GDP-mannose pyrophosphorylase activity in lymphoblasts, nor on transferrin, IgG and total serum protein N-glycosylation profiles. 1 Publication
VAR_070207

Keywords - Diseasei

Disease mutation, Mental retardation

Organism-specific databases

MIMi615510. phenotype.
Orphaneti869. Triple A syndrome.
PharmGKBiPA134925506.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 420420Mannose-1-phosphate guanyltransferase alphaPRO_0000327872Add
BLAST

Proteomic databases

MaxQBiQ96IJ6.
PaxDbiQ96IJ6.
PRIDEiQ96IJ6.

PTM databases

PhosphoSiteiQ96IJ6.

Expressioni

Tissue specificityi

Expressed in fibroblasts (at protein level).1 Publication

Gene expression databases

BgeeiQ96IJ6.
CleanExiHS_GMPPA.
ExpressionAtlasiQ96IJ6. baseline and differential.
GenevestigatoriQ96IJ6.

Organism-specific databases

HPAiHPA035513.

Interactioni

Subunit structurei

Associates with GMPPB.By similarity

Protein-protein interaction databases

BioGridi118967. 8 interactions.
IntActiQ96IJ6. 3 interactions.
MINTiMINT-3053969.
STRINGi9606.ENSP00000315925.

Structurei

3D structure databases

ProteinModelPortaliQ96IJ6.
SMRiQ96IJ6. Positions 4-353.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Phylogenomic databases

eggNOGiCOG1208.
GeneTreeiENSGT00530000063581.
HOVERGENiHBG059531.
InParanoidiQ96IJ6.
KOiK00966.
OMAiGPRIRGN.
OrthoDBiEOG7WHH9C.
PhylomeDBiQ96IJ6.
TreeFamiTF300832.

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: Q96IJ6-1) [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

        10         20         30         40         50
MLKAVILIGG PQKGTRFRPL SFEVPKPLFP VAGVPMIQHH IEACAQVPGM
60 70 80 90 100
QEILLIGFYQ PDEPLTQFLE AAQQEFNLPV RYLQEFAPLG TGGGLYHFRD
110 120 130 140 150
QILAGSPEAF FVLNADVCSD FPLSAMLEAH RRQRHPFLLL GTTANRTQSL
160 170 180 190 200
NYGCIVENPQ THEVLHYVEK PSTFISDIIN CGIYLFSPEA LKPLRDVFQR
210 220 230 240 250
NQQDGQLEDS PGLWPGAGTI RLEQDVFSAL AGQGQIYVHL TDGIWSQIKS
260 270 280 290 300
AGSALYASRL YLSRYQDTHP ERLAKHTPGG PWIRGNVYIH PTAKVAPSAV
310 320 330 340 350
LGPNVSIGKG VTVGEGVRLR ESIVLHGATL QEHTCVLHSI VGWGSTVGRW
360 370 380 390 400
ARVEGTPSDP NPNDPRARMD SESLFKDGKL LPAITILGCR VRIPAEVLIL
410 420
NSIVLPHKEL SRSFTNQIIL
Length:420
Mass (Da):46,291
Last modified:December 1, 2001 - v1
Checksum:i741B77ABA198D4BC
GO
Isoform 2 (identifier: Q96IJ6-2) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     285-285: G → GTQPAPIPNLWLPPQPSEPGFLTSSPELKPQSLPLPDQIRFGIFAPRASLLLLG

Show »
Length:473
Mass (Da):52,018
Checksum:i0F283DF3FEA4C6E9
GO

Sequence cautioni

The sequence AAD38517.1 differs from that shown. Reason: Frameshift at position 355.

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti57 – 571G → C in BAD96671. 1 PublicationCurated
Sequence conflicti67 – 671Q → H in BAF83360. (PubMed:14702039)Curated
Sequence conflicti118 – 1181C → Y in BAA91460. (PubMed:14702039)Curated
Sequence conflicti339 – 3391S → C in AAD38517. 1 PublicationCurated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti21 – 211S → F.
Corresponds to variant rs34218609 [ dbSNP | Ensembl ].
VAR_042434
Natural varianti156 – 1561V → A.
Corresponds to variant rs13396066 [ dbSNP | Ensembl ].
VAR_042435
Natural varianti182 – 1821G → D in AAMR; drastically reduced protein expression in fibroblasts and altered subcellular location; no effect on transferrin N-glycosylation profile. 1 Publication
VAR_070203
Natural varianti334 – 3341T → M in AAMR; no effect on transferrin N-glycosylation profile. 1 Publication
VAR_070204
Natural varianti334 – 3341T → P in AAMR; drastically reduced protein expression in fibroblasts, altered subcellular location and drastically increased GDP-mannose levels in lymphoblast; no effect on GDP-mannose pyrophosphorylase activity in lymphoblasts, nor on transferrin N-glycosylation profile. 1 Publication
VAR_070205
Natural varianti390 – 3901R → P in AAMR; drastically reduced protein expression in fibroblasts; no effect on transferrin N-glycosylation profile. 1 Publication
VAR_070206
Natural varianti401 – 4011N → T in AAMR; drastically reduced protein expression in fibroblasts and drastically increased GDP-mannose levels in lymphoblast; no effect on GDP-mannose pyrophosphorylase activity in lymphoblasts, nor on transferrin, IgG and total serum protein N-glycosylation profiles. 1 Publication
VAR_070207

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei285 – 2851G → GTQPAPIPNLWLPPQPSEPG FLTSSPELKPQSLPLPDQIR FGIFAPRASLLLLG in isoform 2. CuratedVSP_032741

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
AF135422 mRNA. Translation: AAD38517.1. Frameshift.
AK000999 mRNA. Translation: BAA91460.1.
AK022578 mRNA. Translation: BAG51096.1.
AK290671 mRNA. Translation: BAF83360.1.
AK222951 mRNA. Translation: BAD96671.1.
AC053503 Genomic DNA. Translation: AAY15053.1.
CH471063 Genomic DNA. Translation: EAW70755.1.
CH471063 Genomic DNA. Translation: EAW70759.1.
BC007456 mRNA. Translation: AAH07456.1.
CCDSiCCDS2441.1. [Q96IJ6-1]
RefSeqiNP_037467.2. NM_013335.3. [Q96IJ6-1]
NP_995319.1. NM_205847.2. [Q96IJ6-1]
XP_005246543.1. XM_005246486.1. [Q96IJ6-1]
UniGeneiHs.27059.

Genome annotation databases

EnsembliENST00000313597; ENSP00000315925; ENSG00000144591. [Q96IJ6-1]
ENST00000341142; ENSP00000340760; ENSG00000144591. [Q96IJ6-1]
ENST00000358215; ENSP00000350949; ENSG00000144591. [Q96IJ6-1]
ENST00000373908; ENSP00000363016; ENSG00000144591. [Q96IJ6-1]
ENST00000373917; ENSP00000363027; ENSG00000144591. [Q96IJ6-2]
GeneIDi29926.
KEGGihsa:29926.
UCSCiuc002vlr.3. human. [Q96IJ6-1]

Polymorphism databases

DMDMi74732065.

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
AF135422 mRNA. Translation: AAD38517.1 . Frameshift.
AK000999 mRNA. Translation: BAA91460.1 .
AK022578 mRNA. Translation: BAG51096.1 .
AK290671 mRNA. Translation: BAF83360.1 .
AK222951 mRNA. Translation: BAD96671.1 .
AC053503 Genomic DNA. Translation: AAY15053.1 .
CH471063 Genomic DNA. Translation: EAW70755.1 .
CH471063 Genomic DNA. Translation: EAW70759.1 .
BC007456 mRNA. Translation: AAH07456.1 .
CCDSi CCDS2441.1. [Q96IJ6-1 ]
RefSeqi NP_037467.2. NM_013335.3. [Q96IJ6-1 ]
NP_995319.1. NM_205847.2. [Q96IJ6-1 ]
XP_005246543.1. XM_005246486.1. [Q96IJ6-1 ]
UniGenei Hs.27059.

3D structure databases

ProteinModelPortali Q96IJ6.
SMRi Q96IJ6. Positions 4-353.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 118967. 8 interactions.
IntActi Q96IJ6. 3 interactions.
MINTi MINT-3053969.
STRINGi 9606.ENSP00000315925.

PTM databases

PhosphoSitei Q96IJ6.

Polymorphism databases

DMDMi 74732065.

Proteomic databases

MaxQBi Q96IJ6.
PaxDbi Q96IJ6.
PRIDEi Q96IJ6.

Protocols and materials databases

DNASUi 29926.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000313597 ; ENSP00000315925 ; ENSG00000144591 . [Q96IJ6-1 ]
ENST00000341142 ; ENSP00000340760 ; ENSG00000144591 . [Q96IJ6-1 ]
ENST00000358215 ; ENSP00000350949 ; ENSG00000144591 . [Q96IJ6-1 ]
ENST00000373908 ; ENSP00000363016 ; ENSG00000144591 . [Q96IJ6-1 ]
ENST00000373917 ; ENSP00000363027 ; ENSG00000144591 . [Q96IJ6-2 ]
GeneIDi 29926.
KEGGi hsa:29926.
UCSCi uc002vlr.3. human. [Q96IJ6-1 ]

Organism-specific databases

CTDi 29926.
GeneCardsi GC02P220364.
HGNCi HGNC:22923. GMPPA.
HPAi HPA035513.
MIMi 615495. gene.
615510. phenotype.
neXtProti NX_Q96IJ6.
Orphaneti 869. Triple A syndrome.
PharmGKBi PA134925506.
GenAtlasi Search...

Phylogenomic databases

eggNOGi COG1208.
GeneTreei ENSGT00530000063581.
HOVERGENi HBG059531.
InParanoidi Q96IJ6.
KOi K00966.
OMAi GPRIRGN.
OrthoDBi EOG7WHH9C.
PhylomeDBi Q96IJ6.
TreeFami TF300832.

Enzyme and pathway databases

Reactomei REACT_22423. Synthesis of GDP-mannose.

Miscellaneous databases

GenomeRNAii 29926.
NextBioi 52545.
PROi Q96IJ6.
SOURCEi Search...

Gene expression databases

Bgeei Q96IJ6.
CleanExi HS_GMPPA.
ExpressionAtlasi Q96IJ6. baseline and differential.
Genevestigatori Q96IJ6.

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).
  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] (ISOFORM 1).
    Tissue: Embryo.
  3. Suzuki Y., Sugano S., Totoki Y., Toyoda A., Takeda T., Sakaki Y., Tanaka A., Yokoyama S.
    Submitted (APR-2005) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
    Tissue: Kidney.
  4. "Generation and annotation of the DNA sequences of human chromosomes 2 and 4."
    Hillier L.W., Graves T.A., Fulton R.S., Fulton L.A., Pepin K.H., Minx P., Wagner-McPherson C., Layman D., Wylie K., Sekhon M., Becker M.C., Fewell G.A., Delehaunty K.D., Miner T.L., Nash W.E., Kremitzki C., Oddy L., Du H.
    , Sun H., Bradshaw-Cordum H., Ali J., Carter J., Cordes M., Harris A., Isak A., van Brunt A., Nguyen C., Du F., Courtney L., Kalicki J., Ozersky P., Abbott S., Armstrong J., Belter E.A., Caruso L., Cedroni M., Cotton M., Davidson T., Desai A., Elliott G., Erb T., Fronick C., Gaige T., Haakenson W., Haglund K., Holmes A., Harkins R., Kim K., Kruchowski S.S., Strong C.M., Grewal N., Goyea E., Hou S., Levy A., Martinka S., Mead K., McLellan M.D., Meyer R., Randall-Maher J., Tomlinson C., Dauphin-Kohlberg S., Kozlowicz-Reilly A., Shah N., Swearengen-Shahid S., Snider J., Strong J.T., Thompson J., Yoakum M., Leonard S., Pearman C., Trani L., Radionenko M., Waligorski J.E., Wang C., Rock S.M., Tin-Wollam A.-M., Maupin R., Latreille P., Wendl M.C., Yang S.-P., Pohl C., Wallis J.W., Spieth J., Bieri T.A., Berkowicz N., Nelson J.O., Osborne J., Ding L., Meyer R., Sabo A., Shotland Y., Sinha P., Wohldmann P.E., Cook L.L., Hickenbotham M.T., Eldred J., Williams D., Jones T.A., She X., Ciccarelli F.D., Izaurralde E., Taylor J., Schmutz J., Myers R.M., Cox D.R., Huang X., McPherson J.D., Mardis E.R., Clifton S.W., Warren W.C., Chinwalla A.T., Eddy S.R., Marra M.A., Ovcharenko I., Furey T.S., Miller W., Eichler E.E., Bork P., Suyama M., Torrents D., Waterston R.H., Wilson R.K.
    Nature 434:724-731(2005) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  5. 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].
    Tissue: Lymph.
  7. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
  8. Cited for: VARIANTS AAMR ASP-182; MET-334; PRO-334; PRO-390 AND THR-401, FUNCTION, SUBCELLULAR LOCATION, TISSUE SPECIFICITY.

Entry informationi

Entry nameiGMPPA_HUMAN
AccessioniPrimary (citable) accession number: Q96IJ6
Secondary accession number(s): A6NJ74
, A8K3Q6, B3KMT4, Q53GI0, Q9NWC3, Q9Y5P5
Entry historyi
Integrated into UniProtKB/Swiss-Prot: April 8, 2008
Last sequence update: December 1, 2001
Last modified: October 29, 2014
This is version 105 of the entry and version 1 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

Caution

GMPPA is a close homolog of GMPPB, that has been shown to catalyze the formation of GDP-mannose, an essential precursor of glycan moieties of glycoproteins and glycolipids. However, lymphocytes from AAMR patients, that exhibit very low GMPPA protein levels, have unchanged GDP-mannose pyrophosphorylase activity and higher GDP-mannose levels than those from healthy controls. Affected individuals and control subjects show similar N-glycosylation profiles, both for transferrin glycosylation and for N-glycans derived from either total serum protein or immunoglobulin G. These observations led to the hypothesis that GMPPA might serve as a regulatory subunit and allow allosteric feedback inhibition of GMPPB by GDP-mannose. Alignment of GMPPAs and GMPPBs from various species shows that GMPPAs are characterized by a 2 amino acid-insertion (residues 11-12) in a highly conserved motif that borders the catalytic pocket and binds the nucleotide substrate in homologous enzymes. This insertion might inactivate the ancestral catalytic site, converting it to an allosteric site (PubMed:24035193).1 Publication

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 2
    Human chromosome 2: 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. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3