KEGG   Homo sapiens (human): 9526
Entry
9526              CDS       T01001                                 
Symbol
MPDU1, CDGIF, HBEBP2BPA, Lec35, My008, PP3958, PQLC5, SL15, SLC66A5
Name
(RefSeq) mannose-P-dolichol utilization defect 1
  KO
K09660  mannose-P-dolichol utilization defect 1
Organism
hsa  Homo sapiens (human)
Disease
H00118  Congenital disorders of glycosylation type I
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09180 Brite Hierarchies
  09181 Protein families: metabolism
   01003 Glycosyltransferases [BR:hsa01003]
    9526 (MPDU1)
Glycosyltransferases [BR:hsa01003]
 Others
  Other glycosyltransferases
   9526 (MPDU1)
SSDB
Motif
Pfam: PQ-loop DUF1576
Other DBs
NCBI-GeneID: 9526
NCBI-ProteinID: NP_004861
OMIM: 604041
HGNC: 7207
Ensembl: ENSG00000129255
UniProt: O75352 A0A0S2Z4W8
LinkDB
Position
17:7583647..7588212
AA seq 247 aa
MAAEADGPLKRLLVPILLPEKCYDQLFVQWDLLHVPCLKILLSKGLGLGIVAGSLLVKLP
QVFKILGAKSAEGLSLQSVMLELVALTGTMVYSITNNFPFSSWGEALFLMLQTITICFLV
MHYRGQTVKGVAFLACYGLVLLVLLSPLTPLTVVTLLQASNVPAVVVGRLLQAATNYHNG
HTGQLSAITVFLLFGGSLARIFTSIQETGDPLMAGTFVVSSLCNGLIAAQLLFYWNAKPP
HKQKKAQ
NT seq 744 nt   +upstreamnt  +downstreamnt
atggcggccgaggcggacggaccgcttaaacggctgctcgtgccgattcttttacctgag
aaatgctacgaccaacttttcgttcagtgggacttgcttcacgtcccctgcctcaagatt
ctcctcagcaaaggcctggggctgggcattgtggctggctcacttctagtaaagctgccc
caggtgtttaaaatcctgggagccaagagtgctgaagggttgagtctccagtctgtaatg
ctggagctagtggcattgactgggaccatggtctacagcatcactaacaacttcccattc
agctcttggggtgaagccttattcctgatgctccagacgatcaccatctgcttcctggtc
atgcactacagaggacagactgtgaaaggtgtcgctttcctcgcttgctacggcctggtc
ctgctggtgcttctctcacctctgacgcccttgactgtagtcaccctgctccaggcctcc
aatgtgcctgctgtggtggtggggaggcttctccaggcagccaccaactaccacaacggg
cacacaggccagctctcagccatcacagtcttcctgctgtttgggggctccctggcccga
atcttcacttccattcaggaaaccggagatcccctgatggctgggacctttgtggtctcc
tctctctgcaacggcctcatcgccgcccagctgctcttctactggaatgcaaagcctccc
cacaagcagaaaaaggcgcagtag

DBGET integrated database retrieval system