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

Cytoband

p13.1

Chromosome location (bp)

7583529 - 7592789

Protein evidence

Evidence at protein level (all genes)

Ensembl

ENSG00000129255 (version 78.38)

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
 
MPDU1-022
 
MPDU1-024
 
MPDU1-025
 
MPDU1-026
 
MPDU1-028
 
MPDU1-029
 
MPDU1-201
 
MPDU1-202
 
MPDU1-203
 
 » 
 
 
 
 

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
O75352
Show all »
Show » Show » 186 19.8 No 2
MPDU1-022 ENSP00000379758
ENST00000396501
J3QW43
Show all »
Show » Show » 192 20.9 No 3
MPDU1-024 ENSP00000462839
ENST00000584378
J3KT75
Show all »
Show » Show » 154 16.5 No 2
MPDU1-025 ENSP00000463037
ENST00000585217
J3KTK8
Show all »
Show » Show » 116 12.7 No 3
MPDU1-026 ENSP00000464158
ENST00000579445
J3QRD5
Show all »
Show » Show » 194 20.8 No 5
MPDU1-028 ENSP00000463966
ENST00000581380
J3QQZ4
Show all »
Show » Show » 152 16.7 No 3
MPDU1-029 ENSP00000462500
ENST00000582151
J3KSI4
Show all »
Show » 52 5.8 No 0
MPDU1-201 ENSP00000483943
ENST00000614740
Q1HDL3
Show all »
Show » Show » 299 32 No 4
MPDU1-202 ENSP00000483915
ENST00000620608
Q9H3L2
Show all »
Show » Show » 211 22.6 No 4
MPDU1-203 ENSP00000479257
ENST00000621041
J3KTK8
Show all »
Show » Show » 299 32 No 4