AMPD3

GENERAL INFORMATION

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Gene name

AMPD3

Gene description

Adenosine monophosphate deaminase 3

Protein class

Disease related genes
Enzymes
Plasma proteins
Potential drug targets
Predicted intracellular proteins

Predicted localization

Intracellular

Number of transcripts

7
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HUMAN PROTEIN ATLAS INFORMATION

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RNA tissue category

HPA:Expressed in all
GTEx:Tissue enhanced (skeletal muscle)

Protein evidence

Evidence at protein level

Protein localization

Cytoplasmic expression in several tissues, additional expression in erythrocytes.

ANTIBODY RELIABILITY

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Data reliability
description

Antibody staining mainly consistent with RNA expression data.

Data reliability

Uncertain based on 1 antibody.
HPA047408
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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:  Tissue enhanced (skeletal muscle)

Organ

Expression



GENE INFORMATION

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Gene name

AMPD3

Synonyms

Description

Adenosine monophosphate deaminase 3 (HGNC Symbol)

Entrez gene summary

This gene encodes a member of the AMP deaminase gene family. The encoded protein is a highly regulated enzyme that catalyzes the hydrolytic deamination of adenosine monophosphate to inosine monophosphate, a branch point in the adenylate catabolic pathway. This gene encodes the erythrocyte (E) isoforms, whereas other family members encode isoforms that predominate in muscle (M) and liver (L) cells. Mutations in this gene lead to the clinically asymptomatic, autosomal recessive condition erythrocyte AMP deaminase deficiency. Alternatively spliced transcript variants encoding different isoforms of this gene have been described. [provided by RefSeq, Jul 2008]

Chromosome

11

Cytoband

p15.4

Chromosome location (bp)

10308313 - 10507579

Protein evidence

Evidence at protein level (all genes)

Ensembl

ENSG00000133805 (version 78.38)

Entrez gene

272

UniProt

Q01432 (UniProt - Evidence at protein level)

neXtProt

NX_Q01432

Antibodypedia

AMPD3 antibodies


PROTEIN BROWSER

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ENST00000396553
 
ENST00000396554
 
ENST00000444303
 
ENST00000524866
 
ENST00000528723
 
ENST00000529507
 
ENST00000532250
 
 
 
 


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)

AMPD3-001 ENSP00000379802
ENST00000396554
Q01432
Show all »
Show » Show » 776 89.7 No 0
AMPD3-002 ENSP00000433284
ENST00000524866
E9PLK6
Show all »
Show » Show » 267 30.1 No 0
AMPD3-003 ENSP00000379801
ENST00000396553
Q01432
Show all »
Show » Show » 767 88.8 No 0
AMPD3-004 ENSP00000436987
ENST00000528723
Q01432
Show all »
Show » Show » 774 89.5 No 0
AMPD3-005 ENSP00000431648
ENST00000529507
Q01432
Show all »
Show » Show » 767 88.8 No 0
AMPD3-014 ENSP00000432707
ENST00000532250
E9PPG2
Show all »
Show » Show » 111 12.6 No 0
AMPD3-201 ENSP00000396000
ENST00000444303
Q01432
Show all »
Show » Show » 608 71.2 No 0