MPDU1

GENE INFORMATION

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Gene name

MPDU1 (HGNC Symbol)

Synonyms

CDGIf, Lec35, PQLC5, SL15

Description

mannose-P-dolichol utilization defect 1 (HGNC Symbol)

Entrez gene summary

This gene encodes an endoplasmic reticulum membrane protein that is required for utilization of the mannose donor mannose-P-dolichol in the synthesis of lipid-linked oligosaccharides and glycosylphosphatidylinositols. Mutations in this gene result in congenital disorder of glycosylation type If. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2008]

Chromosome

17 (Chromosome progress)

Cytoband

p13.1

Chromosome location (bp)

7486847 - 7496107

Ensembl

ENSG00000129255 (version 73.37)

Entrez gene

9526

UniProt

O75352 (UniProt - Evidence at protein level)

neXtProt

NX_O75352

Antibodypedia

MPDU1 antibodies
 

PROTEIN VIEW

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 « 
 
MPDU1-001
 
MPDU1-006
 
MPDU1-007
 
MPDU1-009
 
MPDU1-010
 
MPDU1-011
 
MPDU1-012
 
MPDU1-015
 
MPDU1-016
 
MPDU1-019
 
MPDU1-020
 
MPDU1-022
 
MPDU1-023
 
MPDU1-024
 
MPDU1-025
 
MPDU1-026
 
MPDU1-027
 
MPDU1-028
 
MPDU1-029
 
 » 
 
 
 
 

PROTEIN INFORMATION

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Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

MPDU1-001 ENSP00000250124
ENST00000250124
O75352
Show all »
Show » Show » 247 26.6 No 7
MPDU1-006 ENSP00000414071
ENST00000423172
B4DT74
Show all »
Show » Show » 186 19.8 No 2
MPDU1-007 ENSP00000458741
ENST00000571822
I3L1D2
Show all »
Show » 61 6.5 No 0
MPDU1-009 ENSP00000459498
ENST00000572719
I3L295
Show all »
Show » 109 11.8 No 2
MPDU1-010 ENSP00000459306
ENST00000572936
I3L1D2
Show all »
Show » 61 6.5 No 0
MPDU1-011 ENSP00000461183
ENST00000576066
I3L4E0
Show all »
Show » 75 8.2 No 0
MPDU1-012 ENSP00000461499
ENST00000574558
32 3.6 No 0
MPDU1-015 ENSP00000459409
ENST00000570458
Show » 61 6.5 No 1
MPDU1-016 ENSP00000460864
ENST00000576272
Show » 54 5.7 No 0
MPDU1-019 ENSP00000463056
ENST00000580834
I3L295
Show all »
Show » 109 11.8 No 2
MPDU1-020 ENSP00000462229
ENST00000584479
I3L295
Show all »
Show » 109 11.8 No 2
MPDU1-022 ENSP00000379758
ENST00000396501
J3QW43
Show all »
Show » 192 20.9 No 3
MPDU1-023 ENSP00000464524
ENST00000580708
J3QS48
Show all »
Show » 101 11 No 2
MPDU1-024 ENSP00000462839
ENST00000584378
J3KT75
Show all »
Show » 154 16.5 No 2
MPDU1-025 ENSP00000463037
ENST00000585217
J3KTK8
Show all »
Show » 116 12.7 No 3
MPDU1-026 ENSP00000464158
ENST00000579445
J3QRD5
Show all »
Show » 194 20.8 No 5
MPDU1-027 ENSP00000352876
ENST00000359822
I3L1D2
Show all »
Show » 61 6.5 No 0
MPDU1-028 ENSP00000463966
ENST00000581380
J3QQZ4
Show all »
Show » 152 16.7 No 3
MPDU1-029 ENSP00000462500
ENST00000582151
J3KSI4
Show all »
52 5.8 No 0