KEGG   Homo sapiens (human): 116150
Entry
116150            CDS       T01001                                 

Gene name
NUS1, C6orf68, CDG1AA, MGC:7199, MRD55, NgBR, TANGO14
Definition
(RefSeq) NUS1 dehydrodolichyl diphosphate synthase subunit
  KO
K19177  dehydrodolichyl diphosphate syntase complex subunit NUS1 [EC:2.5.1.87]
Organism
hsa  Homo sapiens (human)
Pathway
hsa00900  Terpenoid backbone biosynthesis
Network
nt06015  N-Glycan biosynthesis
  Element
N00675  N-Glycan precursor biosynthesis, farnesy-PP to P-Dol
N00676  DOLK deficiency in N-glycan precursor biosynthesis
N00677  SRD5A3 deficiency in N-glycan precursor biosynthesis
N00678  NUS1 deficiency in N-glycan precursor biosynthesis
Disease
H00118  Congenital disorders of glycosylation type I
H00773  Autosomal dominant mental retardation
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09100 Metabolism
  09109 Metabolism of terpenoids and polyketides
   00900 Terpenoid backbone biosynthesis
    116150 (NUS1)
Enzymes [BR:hsa01000]
 2. Transferases
  2.5  Transferring alkyl or aryl groups, other than methyl groups
   2.5.1  Transferring alkyl or aryl groups, other than methyl groups (only sub-subclass identified to date)
    2.5.1.87  ditrans,polycis-polyprenyl diphosphate synthase [(2E,6E)-farnesyl diphosphate specific]
     116150 (NUS1)
SSDB
Motif
Pfam: Prenyltransf
Other DBs
NCBI-GeneID: 116150
NCBI-ProteinID: NP_612468
OMIM: 610463
HGNC: 21042
Ensembl: ENSG00000153989
Vega: OTTHUMG00000015458
Pharos: Q96E22(Tbio)
UniProt: Q96E22
Position
6q22.1
AA seq 293 aa
MTGLYELVWRVLHALLCLHRTLTSWLRVRFGTWNWIWRRCCRAASAAVLAPLGFTLRKPP
AVGRNRRHHRHPRGGSCLAAAHHRMRWRADGRSLEKLPVHMGLVITEVEQEPSFSDIASL
VVWCMAVGISYISVYDHQGIFKRNNSRLMDEILKQQQELLGLDCSKYSPEFANSNDKDDQ
VLNCHLAVKVLSPEDGKADIVRAAQDFCQLVAQKQKRPTDLDVDTLASLLSSNGCPDPDL
VLKFGPVDSTLGFLPWHIRLTEIVSLPSHLNISYEDFFSALRQYAACEQRLGK
NT seq 882 nt   +upstreamnt  +downstreamnt
atgacggggctgtacgagctggtgtggcgggtgctgcacgcgctgctctgtctgcaccgc
acgctcacctcctggctccgcgttcggttcggcacctggaactggatctggcggcgctgc
tgccgcgccgcctctgccgcggtcctagcgccgctcggcttcacgctccgcaagcccccg
gcagtcggcaggaaccgccgtcaccaccggcacccgcgcggggggtcgtgcctggcagcc
gcacaccaccggatgcgctggcgcgcggacggtcgttccttggagaagctgcctgtgcat
atgggcctggtgatcaccgaggtggagcaggaacccagcttctcggacatcgcgagcctc
gtggtgtggtgtatggccgtgggcatctcctacattagcgtctacgaccaccaaggtatt
ttcaaaagaaataattccagattgatggatgaaattttaaaacaacagcaagaacttctg
ggcctagattgttcaaaatactcaccagaatttgcaaatagtaatgacaaagatgatcaa
gttttaaattgccatttggcagtgaaggtgctgtctccggaagatggaaaagcagatatt
gtaagagctgctcaggacttttgccagttagtagcccagaagcaaaagagacccacagat
ttggatgtagatacgttagccagtttacttagttcaaatggttgtcctgatcctgattta
gtattgaagttcggtcctgtggacagcacattaggctttcttccctggcacatcagattg
actgagattgtctctttgccttcccacctaaacatcagttatgaggactttttctctgcc
cttcgtcaatatgcagcctgtgaacagcgtctgggaaagtag

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