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 protein isoform 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 DUF7535
Other DBs
NCBI-GeneID: 9526
NCBI-ProteinID: NP_004861
OMIM: 604041
HGNC: 7207
Ensembl: ENSP00000250124.6
UniProt: O75352 A0A0S2Z4W8
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

  All links  
Disease (2)   
   OMIM (2)   
Gene (8)   
   NCBI-PROTEINID (1)   
   NCBI-Gene (1)   
   HGNC (1)   
   Ensembl (1)   
   RIKEN BRC-DNA (3)   
   OC (1)   
Protein sequence (9)   
   UniProt (2)   
   SWISS-PROT (1)   
   RefSeq(pep) (6)   
DNA sequence (61)   
   RefSeq(nuc) (7)   
   GenBank (27)   
   EMBL (27)   
Protein domain (2)   
   Pfam (2)   
All databases (82)   

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