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FLASH GENE

Symbol

AMPD3

contributors: - updated : 05-01-2006

HGNC name	adenosine monophosphate deaminase (isoform E)
HGNC id	470

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Location	11p15      Physical location : 10.471.867 - 10.529.126
EC.number	3.5.4.6

DNA

TYPE	functioning gene
STRUCTURE	56.00 kb     17 Exon(s)

10 Kb 5' upstream gene genomic sequence study

regulatory sequence

alternative promoter

MAPPING

cloned

Y

linked

N

status

provisional

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed variant 1 - splicing - - 216 erythrocytes Mahnke,Zizelman variant 3 - splicing 2212 - 658 erythrocytes Mahnke,Zizelman variant 2 - splicing 3915 88.8 767 thymus,brain,heart,prostate,kidney,lung,skeletal muscle,erythrocytes Mahnke,Zizelman

EXPRESSION

Type

constitutive of

expressed in	(based on citations)
organ(s)	System Organ level 1 Organ level 2 Organ level 3 Organ level 4 Level Pubmed Species Stage Rna symbol blood / hematopoietic thymus       highly Cardiovascular heart       moderately Nervous brain       moderately Reproductive male system prostate     moderately Respiratory lung       highly Urinary kidney       moderately

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Blood / Hematopoietic bone marrow       Lymphoid         Muscular striatum skeletal

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains

mono polymer

homomer , tetramer

HOMOLOGY

interspecies	ortholog to murine Ampd3
	homolog to Drosophila CG11058
	homolog to C.elegans C34F11.3

Homologene

FAMILY

adenosine and AMP deaminase family

CATEGORY

enzyme

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,cytoplasm

basic FUNCTION	catalyzing the D amination of adenosin monophosphate into inosin monophosphate
	AMP deaminase plays a critical role in energy metabolism

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

nucleic

signaling

a component

INTERACTION

DNA

RNA

small molecule

protein

cell & other

cytoplasmic membrane and phosphatidylinositol 4,5-bisphosphate

REGULATION

inhibited by	phosphatidylinositol 4,5-bisphosphate
	pH and association with plasmic membrane

ASSOCIATED DISORDERS

corresponding disease(s)

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS