KEGG   Homo sapiens (human): 9791
Entry
9791              CDS       T01001                                 
Symbol
PTDSS1, LMHD, PSS1, PSSA
Name
(RefSeq) phosphatidylserine synthase 1
  KO
K08729  phosphatidylserine synthase 1 [EC:2.7.8.-]
Organism
hsa  Homo sapiens (human)
Pathway
hsa00564  Glycerophospholipid metabolism
hsa01100  Metabolic pathways
Disease
H01832  Lenz-Majewski syndrome
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09100 Metabolism
  09103 Lipid metabolism
   00564 Glycerophospholipid metabolism
    9791 (PTDSS1)
SSDB
Motif
Pfam: PSS DUF6350 Cyt_b-c1_8
Other DBs
NCBI-GeneID: 9791
NCBI-ProteinID: NP_055569
OMIM: 612792
HGNC: 9587
Ensembl: ENSG00000156471
UniProt: P48651
Position
8:96261902..96336995
AA seq 473 aa
MASCVGSRTLSKDDVNYKMHFRMINEQQVEDITIDFFYRPHTITLLSFTIVSLMYFAFTR
DDSVPEDNIWRGILSVIFFFLIISVLAFPNGPFTRPHPALWRMVFGLSVLYFLFLVFLLF
LNFEQVKSLMYWLDPNLRYATREADVMEYAVNCHVITWERIISHFDIFAFGHFWGWAMKA
LLIRSYGLCWTISITWELTELFFMHLLPNFAECWWDQVILDILLCNGGGIWLGMVVCRFL
EMRTYHWASFKDIHTTTGKIKRAVLQFTPASWTYVRWFDPKSSFQRVAGVYLFMIIWQLT
ELNTFFLKHIFVFQASHPLSWGRILFIGGITAPTVRQYYAYLTDTQCKRVGTQCWVFGVI
GFLEAIVCIKFGQDLFSKTQILYVVLWLLCVAFTTFLCLYGMIWYAEHYGHREKTYSECE
DGTYSPEISWHHRKGTKGSEDSPPKHAGNNESHSSRRRNRHSKSKVTNGVGKK
NT seq 1422 nt   +upstreamnt  +downstreamnt
atggcgtcctgcgtggggagccggaccctaagcaaggatgatgtgaactacaaaatgcat
ttccggatgatcaacgagcagcaagtggaggacatcaccattgacttcttctaccggccg
cataccatcaccctgctcagcttcaccatcgtcagcctcatgtacttcgcctttaccagg
gatgactctgttccagaagacaacatctggagaggcatcctctctgttattttcttcttt
cttatcatcagtgtgttagctttccccaatggtccgttcactcgacctcatccagcctta
tggcgaatggtttttggactcagtgtgctctacttcctgttcctggtattcctactcttc
ctgaatttcgagcaggttaaatctctaatgtattggctagatccaaatcttcgatacgcc
acaagggaagcagatgtcatggagtatgctgtgaactgccatgtgatcacctgggagagg
attatcagccactttgatatttttgcatttggacatttctggggctgggccatgaaggcc
ttgctgatccgtagttacggtctctgctggacaatcagtattacctgggagctgactgag
ctcttcttcatgcatctcctccccaattttgccgagtgctggtgggatcaagtcattctg
gacatcctgttgtgcaatggcggtggcatttggctgggcatggtcgtttgccggttttta
gagatgaggacttaccactgggcaagcttcaaggacattcataccaccaccgggaagatc
aagagagctgttctgcagttcactcctgctagctggacctatgttcgatggtttgacccc
aaatcttcttttcagagagtagctggagtgtaccttttcatgatcatctggcagctgact
gagttgaataccttcttcttgaagcatatctttgtgttccaagccagtcatccattaagt
tggggtagaattctctttattggtggcatcacagctcccacagtgagacagtactacgct
tacctcaccgacacacagtgcaagcgcgtaggaacacaatgctgggtgtttggggtcatt
ggtttcctggaggccattgtttgcataaaatttggacaagatctcttctctaagacccaa
atactctatgttgtgctttggcttctttgcgtggctttcaccactttcctctgtctgtac
ggcatgatttggtatgcagaacactatggtcaccgagaaaagacctactcggagtgtgaa
gatggcacctacagtccagagatctcctggcatcacaggaaagggacaaaaggttctgaa
gacagcccacccaagcatgcaggcaacaacgaaagccattcttccaggagaaggaatcgg
cattccaagtcaaaagtcaccaatggcgttggaaagaaatga

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