MPDU1

GENERAL INFORMATION

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Gene name

MPDU1

Gene description

Mannose-P-dolichol utilization defect 1

Protein class

Disease related genes
Predicted intracellular proteins
Predicted membrane proteins

Predicted localization

Intracellular,Membrane

Number of transcripts

11
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HUMAN PROTEIN ATLAS INFORMATION

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RNA tissue category

HPA:Expressed in all
GTEx:Expressed in all

Protein evidence

Evidence at protein level

Protein localization

Most of the normal tissues displayed moderate cytoplasmic positivity. Squamous epithelia were weakly stained or negative.

ANTIBODY RELIABILITY

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Data reliability
description

Pending RNA-based expert annotation.

Data reliability

Uncertain based on 1 antibody.
HPA014845
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RNA AND PROTEIN EXPRESSION SUMMARY

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RNA expression (FPKM) Protein expression (score)
Brain
Endocrine tissues
Bone marrow & immune system
Muscle tissues
Lung
Liver & gallbladder
Pancreas
Gastrointestinal tract
Kidney & urinary bladder
Male tissues
Female tissues
Adipose & soft tissue
Skin
Cerebral cortex

Lymph node

Liver

Colon

Kidney

Testis



PROTEIN EXPRESSION OVERVIEW

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Organ

Expression



RNA EXPRESSION OVERVIEW

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HPA dataset
RNA tissue category:  Expressed in all

Organ

Expression

GTEx dataset
RNA tissue category:  Expressed in all

Organ

Expression



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 BROWSER

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ENST00000250124
 
ENST00000396501
 
ENST00000423172
 
ENST00000579445
 
ENST00000581380
 
ENST00000582151
 
ENST00000584378
 
ENST00000585217
 
ENST00000614740
 
ENST00000620608
 
ENST00000621041
 
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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