KEGG   Homo sapiens (human): 9526Help
Entry
9526              CDS       T01001                                 

Gene name
MPDU1, CDGIF, HBEBP2BPA, Lec35, My008, PP3958, PQLC5, SL15
Definition
(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 (CDG) type I
Brite
Glycosyltransferases [BR:hsa01003]
 Others
  Other glycosyltransferases
   9526 (MPDU1)
BRITE hierarchy
SSDB OrthologParalogGFIT
Motif
Pfam: PQ-loop
Motif
Other DBs
NCBI-GeneID: 9526
NCBI-ProteinID: NP_004861
OMIM: 604041
HGNC: 7207
Ensembl: ENSG00000129255
Vega: OTTHUMG00000108147
Pharos: O75352(Tbio)
UniProt: O75352 A0A0S2Z4W8
LinkDB All DBs
Position
17p13.1
AA seq 247 aa AA seqDB search
MAAEADGPLKRLLVPILLPEKCYDQLFVQWDLLHVPCLKILLSKGLGLGIVAGSLLVKLP
QVFKILGAKSAEGLSLQSVMLELVALTGTMVYSITNNFPFSSWGEALFLMLQTITICFLV
MHYRGQTVKGVAFLACYGLVLLVLLSPLTPLTVVTLLQASNVPAVVVGRLLQAATNYHNG
HTGQLSAITVFLLFGGSLARIFTSIQETGDPLMAGTFVVSSLCNGLIAAQLLFYWNAKPP
HKQKKAQ
NT seq 744 nt NT seq  +upstreamnt  +downstreamnt
atggcggccgaggcggacggaccgcttaaacggctgctcgtgccgattcttttacctgag
aaatgctacgaccaacttttcgttcagtgggacttgcttcacgtcccctgcctcaagatt
ctcctcagcaaaggcctggggctgggcattgtggctggctcacttctagtaaagctgccc
caggtgtttaaaatcctgggagccaagagtgctgaagggttgagtctccagtctgtaatg
ctggagctagtggcattgactgggaccatggtctacagcatcactaacaacttcccattc
agctcttggggtgaagccttattcctgatgctccagacgatcaccatctgcttcctggtc
atgcactacagaggacagactgtgaaaggtgtcgctttcctcgcttgctacggcctggtc
ctgctggtgcttctctcacctctgacgcccttgactgtagtcaccctgctccaggcctcc
aatgtgcctgctgtggtggtggggaggcttctccaggcagccaccaactaccacaacggg
cacacaggccagctctcagccatcacagtcttcctgctgtttgggggctccctggcccga
atcttcacttccattcaggaaaccggagatcccctgatggctgggacctttgtggtctcc
tctctctgcaacggcctcatcgccgcccagctgctcttctactggaatgcaaagcctccc
cacaagcagaaaaaggcgcagtag

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