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

Gene name
PGAP1, Bst1, ISPD3024, MRT42, SPG67
Definition
(RefSeq) post-GPI attachment to proteins 1
  KO
K05294  glycosylphosphatidylinositol deacylase [EC:3.-.-.-]
Organism
hsa  Homo sapiens (human)
Pathway
hsa00563  Glycosylphosphatidylinositol (GPI)-anchor biosynthesis
hsa01100  Metabolic pathways
Disease
H00768  Nonsyndromic autosomal recessive mental retardation (NS-ARMR)
H01485  Autosomal recessive mental retardation-42 (MRT42)
H01489  Inherited glycosylphosphatidylinositol (GPI) deficiencies
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09100 Metabolism
  09107 Glycan biosynthesis and metabolism
   00563 Glycosylphosphatidylinositol(GPI)-anchor biosynthesis
    80055 (PGAP1)
Enzymes [BR:hsa01000]
 3. Hydrolases
  3.-  
   3.-.-  
    3.-.-.-  
     80055 (PGAP1)
BRITE hierarchy
SSDB OrthologParalogGFIT
Motif
Pfam: PGAP1 DUF676 Abhydrolase_6 Abhydrolase_1 Hydrolase_4 Peptidase_S9 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

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Ontology (2)   
   KEGG BRITE (2)   
Pathway (2)   
   KEGG PATHWAY (2)   
Disease (5)   
   KEGG DISEASE (3)   
   OMIM (2)   
Genome (1)   
   KEGG GENOME (1)   
Gene (25)   
   KEGG ORTHOLOGY (1)   
   RefGene (15)   
   NCBI-PROTEINID (1)   
   NCBI-Gene (1)   
   UniGene (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 (9)   
   Pfam (9)   
All databases (86)   

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