KEGG   Homo sapiens (human): 80055Help
Entry
80055             CDS       T01001                                 

Gene name
PGAP1, Bst1, ISPD3024, MRT42, SPG67
Definition
(RefSeq) post-GPI attachment to proteins inositol deacylase 1
  KO
K05294  GPI inositol-deacylase [EC:3.-.-.-]
Organism
hsa  Homo sapiens (human)
Pathway
hsa00563  Glycosylphosphatidylinositol (GPI)-anchor biosynthesis
hsa01100  Metabolic pathways
Network
nt06018  GPI-anchor biosynthesis
  Element
N00748  GPI-anchor biosynthesis
N00749  PGAP1 deficiency in GPI-anchor biosynthesis
Disease
H00768  Autosomal recessive mental retardation
H01485  Autosomal recessive mental retardation-42
H01489  Inherited glycosylphosphatidylinositol deficiencies
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09100 Metabolism
  09107 Glycan biosynthesis and metabolism
   00563 Glycosylphosphatidylinositol (GPI)-anchor biosynthesis
    80055 (PGAP1)
 09180 Brite Hierarchies
  09182 Protein families: genetic information processing
   04131 Membrane trafficking [BR:hsa04131]
    80055 (PGAP1)
Enzymes [BR:hsa01000]
 3. Hydrolases
  3.-  
   3.-.-  
    3.-.-.-  
     80055 (PGAP1)
Membrane trafficking [BR:hsa04131]
 Endoplasmic reticulum (ER) - Golgi transport
  Others
   Post-GPI attachment to proteins factors (PGAP)
    80055 (PGAP1)
BRITE hierarchy
SSDB OrthologParalogGFIT
Motif
Pfam: PGAP1 Palm_thioest DUF676 Abhydrolase_6 Abhydrolase_1 Hydrolase_4 Peptidase_S9 DUF1749 Lipase_3 Esterase ChlI
Motif
Other DBs
NCBI-GeneID: 80055
NCBI-ProteinID: NP_079265
OMIM: 611655
HGNC: 25712
Ensembl: ENSG00000197121
Vega: OTTHUMG00000132743
Pharos: Q75T13(Tdark)
UniProt: Q75T13
Position
2q33.1
AA seq 922 aa AA seqDB search
MFLHSVNLWNLAFYVFMVFLATLGLWDVFFGFEENKCSMSYMFEYPEYQKIELPKKLAKR
YPAYELYLYGEGSYAEEHKILPLTGIPVLFLPGNAGSYKQVRSIGSIALRKAEDIDFKYH
FDFFSVNFNEELVALYGGSLQKQTKFVHECIKTILKLYKGQEFAPKSVAIIGHSMGGLVA
RALLTLKNFKHDLINLLITQATPHVAPVMPLDRFITDFYTTVNNYWILNARHINLTTLSV
AGGFRDYQVRSGLTFLPKLSHHTSALSVVSSAVPKTWVSTDHLSIVWCKQLQLTTVRAFF
DLIDADTKQITQNSKKKLSVLYHHFIRHPSKHFEENPAIISDLTGTSMWVLVKVSKWTYV
AYNESEKIYFTFPLENHRKIYTHVYCQSTMLDTNSWIFACINSTSMCLQGVDLSWKAELL
PTIKYLTLRLQDYPSLSHLVVYVPSVRGSKFVVDCEFFKKEKRYIQLPVTHLFSFGLSSR
KVVLNTNGLYYNLELLNFGQIYQAFKINVVSKCSAVKEEITSIYRLHIPWSYEDSLTIAQ
APSSTEISLKLHIAQPENNTHVALFKMYTSSDCRYEVTVKTSFSQILGQVVRFHGGALPA
YVVSNILLAYRGQLYSLFSTGCCLEYATMLDKEAKPYKVDPFVIIIKFLLGYKWFKELWD
VLLLPELDAVILTCQSMCFPLISLILFLFGTCTAYWSGLLSSASVRLLSSLWLALKRPSE
LPKDIKMISPDLPFLTIVLIIVSWTTCGALAILLSYLYYVFKVVHLQASLTTFKNSQPVN
PKHSRRSEKKSNHHKDSSIHHLRLSANDAEDSLRMHSTVINLLTWIVLLSMPSLIYWLKN
LRYYFKLNPDPCKPLAFILIPTMAILGNTYTVSIKSSKLLKTTSQFPLPLAVGVIAFGSA
HLYRLPCFVFIPLLLHALCNFM
NT seq 2769 nt NT seq  +upstreamnt  +downstreamnt
atgtttcttcactcagttaatctctggaacctggcgttttatgtcttcatggtctttctg
gcaaccctggggctgtgggatgtcttcttcggcttcgaggagaataagtgcagtatgagc
tacatgtttgagtacccggagtatcagaaaatagaacttccaaagaaactggcaaaacgc
tatcccgcatatgagttgtatctttatggagagggatcctatgctgaagaacacaaaatt
ctccctttgacgggtattccagttctctttcttcctggtaatgctggaagttataagcaa
gttcgttctattggctccattgcacttagaaaagcagaggacattgacttcaagtaccac
tttgacttctttagtgtgaacttcaatgaagaactggtggctttgtatggtggaagtctt
cagaagcagaccaagtttgtacatgaatgtattaaaacaattctcaaactctataagggt
caagaatttgctccaaaaagtgtggcaataattggtcattctatgggtggccttgttgca
agagcattgcttacactgaaaaattttaagcatgatctgataaatcttcttattacacaa
gccacacctcatgttgctcctgtgatgccattagatcgtttcattacagatttttatacg
actgtaaacaactattggattctaaatgctcgacacataaatttaaccacactttctgta
gctggaggattccgggattaccaagttcgttcaggattgacttttctaccaaaattaagc
catcataccagtgccttatctgttgtgagttcagcagtgcctaagacctgggtctcaaca
gaccacctctccattgtgtggtgtaaacaattgcagttgactacagttcgagcattcttt
gatcttattgatgctgatactaaacaaataactcaaaattccaagaagaaactgtcagtt
ttgtatcaccactttataagacacccatcaaaacattttgaggaaaatccagctataatt
tctgacttaacagggacatctatgtgggttctagtaaaagtgtccaaatggacctatgta
gcttacaacgaatctgagaagatatattttacatttcctcttgaaaatcatagaaaaatc
tacactcatgtctattgtcagagcactatgctggatacaaatagttggatttttgcttgc
ataaacagcacttctatgtgcctgcaaggggttgatttatcatggaaagctgaactgctg
ccaacaattaagtatctgacattaagacttcaagactatccatctttgtctcatcttgtt
gtttatgtaccatctgttcgtggaagtaagtttgttgtagattgtgaattctttaaaaaa
gagaaaagatacatacagcttcctgtaactcatcttttttcctttggattgtcttcaagg
aaagtggtgttaaatacaaatggcctatactacaatctagagcttctgaactttggacag
atataccaagcttttaaaatcaacgtggtaagcaagtgctcagcagtcaaagaagaaata
accagtatctatagacttcatattccttggtcttatgaagattcactaaccattgcacag
gctccatcttccacagaaatttctctgaaactccatattgctcaaccagaaaacaatacc
catgtggcattatttaaaatgtacacgtcatcagactgtcggtacgaggtgacagttaag
acttccttttcacaaatacttggacaggtagttagatttcatggtggagctcttcctgct
tatgtcgtatctaatatccttcttgcttatagaggacagttatattctcttttctcaaca
ggttgttgcttagaatatgctaccatgttggataaagaagccaaaccatacaaagttgat
ccttttgtaattatcattaagtttctgttggggtataaatggtttaaagaattgtgggat
gtattattgttaccagaattagatgccgtcattttaacttgtcagagtatgtgtttcccc
ctgatatccttgattctctttctgtttggaacgtgtactgcctactggagtggcctactg
tcttctgcatctgtgagacttctttcttcattgtggctagctttgaaaagaccctctgaa
cttcctaaagatatcaagatgatatcaccagacttgccctttttgacaattgtcttgatc
atagttagttggacaacttgtggagcactagccatacttctttcttatctttactatgtg
tttaaggttgttcatctgcaagccagcttaacaacttttaagaatagccagcctgtgaat
cccaaacactctagaagaagtgaaaagaaatccaatcatcataaagactcctcaatacac
catcttcgtttatctgccaacgatgctgaagatagccttcgcatgcacagtactgtgatt
aacttactaacatggattgtattactcagcatgccttctctaatttattggctaaagaat
cttaggtattattttaaacttaatcctgatccatgtaaacctttggcatttatccttatt
ccgactatggcaattcttggaaatacttacactgtttcaataaaatcaagtaaattgttg
aagactacttcacaatttccacttcctctggctgttggtgtgattgcttttgggtcagca
catttatataggcttccatgctttgtcttcattcctcttttactccatgcattatgcaac
tttatgtaa

  All links  
Ontology (3)   
   KEGG BRITE (3)   
Pathway (2)   
   KEGG PATHWAY (2)   
Network (2)   
   KEGG NETWORK (2)   
Disease (5)   
   KEGG DISEASE (3)   
   OMIM (2)   
Genome (1)   
   KEGG GENOME (1)   
Gene (24)   
   KEGG ORTHOLOGY (1)   
   RefGene (15)   
   NCBI-PROTEINID (1)   
   NCBI-Gene (1)   
   HGNC (1)   
   Ensembl (1)   
   RIKEN BRC-DNA (1)   
   OC (1)   
   PHAROS (1)   
   VEGA (1)   
Protein sequence (9)   
   UniProt (1)   
   SWISS-PROT (1)   
   RefSeq(pep) (7)   
DNA sequence (33)   
   RefSeq(nuc) (9)   
   GenBank (12)   
   EMBL (12)   
Protein domain (11)   
   Pfam (11)   
All databases (90)   

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