Gene_Locus Report

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Gene_locus Report for: human-PGAP1

Homo sapiens (Human)GPI inositol-deacylase PGAP1 117.8 kd protein in ste2-frs2 intergenic region

Comment
only n-term Pfam A PGAP1 82 302 is the alpha/beta hydrolase domain. PGAP1Involved in inositol deacylation of GPI-anchored proteins. GPI inositol deacylation may important for efficient transport of GPI-anchored proteins from the endoplasmic reticulum to the Golgi.Mutations in PGAP1 result in the disease: Mental retardation, autosomal recessive 42 (MRT42). A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. Hereditary spastic paraplegias (HSPs) SPG67


Relationship
Family|PGAP1
Block| X
Position in NCBI Life Tree|Homo sapiens
(Below N is a link to NCBI taxonomic web page and E link to ESTHER at designed phylum.)
> cellular organisms: N E > Eukaryota: N E > Opisthokonta: N E > Metazoa: N E > Eumetazoa: N E > Bilateria: N E > Deuterostomia: N E > Chordata: N E > Craniata: N E > Vertebrata: N E > Gnathostomata: N E > Teleostomi: N E > Euteleostomi: N E > Sarcopterygii: N E > Dipnotetrapodomorpha: N E > Tetrapoda: N E > Amniota: N E > Mammalia: N E > Theria: N E > Eutheria: N E > Boreoeutheria: N E > Euarchontoglires: N E > Primates: N E > Haplorrhini: N E > Simiiformes: N E > Catarrhini: N E > Hominoidea: N E > Hominidae: N E > Homininae: N E > Homo: N E > Homo sapiens: N E


Molecular evidence
Database
9 mutations: Table (e.g. : E113Rfs_human-PGAP1, IVS10+1G>C, IVS13+1G>T ... more)
No structure
No kinetic

Disease: Mental retardation, autosomal recessive 42 MRT42 -



No Substrate
No inhibitor
>3 Genbank links 6 more: BC040517, AK022439, AC017035
3 UniProt : Q75T13, B4DYY6, A6NI33
3 UniProt : Q75T13, B4DYY6, A6NI33
3 Interpro : Q75T13, B4DYY6, A6NI33
3 Prodom : Q75T13, B4DYY6, A6NI33
3 Pfam : Q75T13, B4DYY6, A6NI33
3 PIRSF : Q75T13, B4DYY6, A6NI33
3 SUPERFAM : Q75T13, B4DYY6, A6NI33
1 EntrezGene : 80055
1 SNP : 80055
1 UniGene : 229988
1 HUGO HGNC : 25712
2 OMIM : 611655, 615802
1 Ensembl : ENSG00000197121
Sequence
Graphical view for this peptide sequence: human-PGAP1
Colored MSA for PGAP1 (raw)
MFLHSVNLWNLAFYVFMVFLATLGLWDVFFGFEENKCSMSYMFEYPEYQK
IELPKKLAKRYPAYELYLYGEGSYAEEHKILPLTGIPVLFLPGNAGSYKQ
VRSIGSIALRKAEDIDFKYHFDFFSVNFNEELVALYGGSLQKQTKFVHEC
IKTILKLYKGQEFAPKSVAIIGHSMGGLVARALLTLKNFKHDLINLLITQ
ATPHVAPVMPLDRFITDFYTTVNNYWILNARHINLTTLSVAGGFRDYQVR
SGLTFLPKLSHHTSALSVVSSAVPKTWVSTDHLSIVWCKQLQLTTVRAFF
DLIGADTKQITQNSKKKLSVLYHHFIRHPSKHFEENPAIISDLTGTSMWV
Legend This sequence has been compared to family alignement (MSA)
red => minority aminoacid
blue => majority aminoacid
color intensity => conservation rate
title => sequence position(MSA position)aminoacid rate
Catalytic site
Catalytic site in the MSA

MFLHSVNLWNLAFYVFMVFLATLGLWDVFFGFEENKCSMSYMFEYPEYQK
IELPKKLAKRYPAYELYLYGEGSYAEEHKILPLTGIPVLFLPGNAGSYKQ
VRSIGSIALRKAEDIDFKYHFDFFSVNFNEELVALYGGSLQKQTKFVHEC
IKTILKLYKGQEFAPKSVAIIGHSMGGLVARALLTLKNFKHDLINLLITQ
ATPHVAPVMPLDRFITDFYTTVNNYWILNARHINLTTLSVAGGFRDYQVR
SGLTFLPKLSHHTSALSVVSSAVPKTWVSTDHLSIVWCKQLQLTTVRAFF
DLIGADTKQITQNSKKKLSVLYHHFIRHPSKHFEENPAIISDLTGTSMWV


References
    Title: Null mutation in PGAP1 impairing Gpi-anchor maturation in patients with intellectual disability and encephalopathy
    Murakami Y, Tawamie H, Maeda Y, Buttner C, Buchert R, Radwan F, Schaffer S, Sticht H, Aigner M and Jamra RA <2 more author(s)>
    Ref: PLoS Genet, 10:e1004320, 2014 : PubMed

            

    Title: Generation and annotation of the DNA sequences of human chromosomes 2 and 4
    Hillier LW, Graves TA, Fulton RS, Fulton LA, Pepin KH, Minx P, Wagner-McPherson C, Layman D, Wylie K and Wilson RK <111 more author(s)>
    Ref: Nature, 434:724, 2005 : PubMed

            

    Title: Inositol deacylation of glycosylphosphatidylinositol-anchored proteins is mediated by mammalian PGAP1 and yeast Bst1p
    Tanaka S, Maeda Y, Tashima Y, Kinoshita T
    Ref: Journal of Biological Chemistry, 279:14256, 2004 : PubMed

            


Other Papers


Send your questions or comments to :
Mail to: Nicolas Lenfant, Thierry Hotelier, Yves Bourne, Pascale Marchot and Arnaud Chatonnet.
Please cite: Lenfant 2013 Nucleic.Acids.Res. or Marchot Chatonnet 2012 Prot.Pept Lett.
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