1. Home
  2. Gene Locus
  3. human-PGAP1

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

No structure

No kinetic

No substrate

No inhibitor

Database

Sequence

Peptide

MFLHSVNLWN LAFYVFMVFL ATLGLWDVFF GFEENKCSMS YMFEYPEYQK IELPKKLAKR YPAYELYLYG EGSYAEEHKI LPLTGIPVLF LPGNAGSYKQ VRSIGSIALR KAEDIDFKYH FDFFSVNFNE ELVALYGGSL QKQTKFVHEC IKTILKLYKG QEFAPKSVAI IGHSMGGLVA RALLTLKNFK HDLINLLITQ ATPHVAPVMP LDRFITDFYT TVNNYWILNA RHINLTTLSV AGGFRDYQVR SGLTFLPKLS HHTSALSVVS SAVPKTWVST DHLSIVWCKQ LQLTTVRAFF DLIGADTKQI TQNSKKKLSV LYHHFIRHPS KHFEENPAII SDLTGTSMWV

References (4)

Title : Molecular basis of the inositol deacylase PGAP1 involved in quality control of GPI-AP biogenesis - Hong_2024_Nat.Commun_15_8
Author(s) : Hong J , Li T , Chao Y , Xu Y , Zhu Z , Zhou Z , Gu W , Qu Q , Li D
Ref : Nat Commun , 15 :8 , 2024
Abstract :
PubMedSearch : Hong_2024_Nat.Commun_15_8
PubMedID: 38167496
Gene_locus related to this paper: chatd-g0s652 , human-PGAP1

Title : Null mutation in PGAP1 impairing Gpi-anchor maturation in patients with intellectual disability and encephalopathy - Murakami_2014_PLoS.Genet_10_e1004320
Author(s) : Murakami Y , Tawamie H , Maeda Y , Buttner C , Buchert R , Radwan F , Schaffer S , Sticht H , Aigner M , Reis A , Kinoshita T , Jamra RA
Ref : PLoS Genet , 10 :e1004320 , 2014
Abstract :
PubMedSearch : Murakami_2014_PLoS.Genet_10_e1004320
PubMedID: 24784135
Gene_locus related to this paper: human-PGAP1

Title : Generation and annotation of the DNA sequences of human chromosomes 2 and 4 - Hillier_2005_Nature_434_724
Author(s) : Hillier LW , Graves TA , Fulton RS , Fulton LA , Pepin KH , Minx P , Wagner-McPherson C , Layman D , Wylie K , Sekhon M , Becker MC , Fewell GA , Delehaunty KD , Miner TL , Nash WE , 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 EA , 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 SS , Strong CM , Grewal N , Goyea E , Hou S , Levy A , Martinka S , Mead K , McLellan MD , Meyer R , Randall-Maher J , Tomlinson C , Dauphin-Kohlberg S , Kozlowicz-Reilly A , Shah N , Swearengen-Shahid S , Snider J , Strong JT , Thompson J , Yoakum M , Leonard S , Pearman C , Trani L , Radionenko M , Waligorski JE , Wang C , Rock SM , Tin-Wollam AM , Maupin R , Latreille P , Wendl MC , Yang SP , Pohl C , Wallis JW , Spieth J , Bieri TA , Berkowicz N , Nelson JO , Osborne J , Ding L , Sabo A , Shotland Y , Sinha P , Wohldmann PE , Cook LL , Hickenbotham MT , Eldred J , Williams D , Jones TA , She X , Ciccarelli FD , Izaurralde E , Taylor J , Schmutz J , Myers RM , Cox DR , Huang X , McPherson JD , Mardis ER , Clifton SW , Warren WC , Chinwalla AT , Eddy SR , Marra MA , Ovcharenko I , Furey TS , Miller W , Eichler EE , Bork P , Suyama M , Torrents D , Waterston RH , Wilson RK
Ref : Nature , 434 :724 , 2005
Abstract :
PubMedSearch : Hillier_2005_Nature_434_724
PubMedID: 15815621
Gene_locus related to this paper: human-ABHD1 , human-LDAH , human-ABHD18 , human-KANSL3 , human-PGAP1 , human-PREPL , human-cb069

Title : Inositol deacylation of glycosylphosphatidylinositol-anchored proteins is mediated by mammalian PGAP1 and yeast Bst1p - Tanaka_2004_J.Biol.Chem_279_14256
Author(s) : Tanaka S , Maeda Y , Tashima Y , Kinoshita T
Ref : Journal of Biological Chemistry , 279 :14256 , 2004
Abstract :
PubMedSearch : Tanaka_2004_J.Biol.Chem_279_14256
PubMedID: 14734546
Gene_locus related to this paper: human-PGAP1 , ratno-q765a7 , yeast-BST1