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FLASH GENE

Symbol

AMPD1

contributors: - updated : 28-06-2006

HGNC name	adenosine monophosphate deaminase 1 (isoform M)
HGNC id	468

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	AMPD1 myopathy due to myoadenylate deaminase deficiency
Location	1p13      Physical location : 115.215.721 - 115.238.239
Synonym symbol(s)	MADA
EC.number	3.5.4.6

DNA

TYPE	functioning gene
STRUCTURE	22.00 kb     16 Exon(s)

Genomic sequence alignment details
10 Kb 5' upstream gene genomic sequence study

MAPPING

cloned

Y

linked

N

status

provisional

RNA

TRANSCRIPTS	type	messenger

text	alternative splicing of exon 2, 3, 4 during myocyte differentiation

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed V1 - splicing - - - - Isackson 51 bp deletion at the 5' of exon 3 V2 - splicing - - - - Isackson deletion of 36 bp at the 5' of the exon 3 V3 - splicing - - - - Isackson lack exon 3 V4 - splicing - - - - Isackson lacks exon 3and 4 V5 - splicing - - - - Isackson 89 bp insertion at the 5' of exon 4 V6, wild type - splicing 2341 - - - Isackson

EXPRESSION

Type	restricted

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 Lymphoid/Immune thymus       highly Nervous spinal cord         Respiratory lung       moderately

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Muscular striatum skeletal     Nervous central

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	N terminal sequence influencing contractile binding protein
	C terminal primary binding domain for actomyosin

mono polymer

homomer , tetramer

HOMOLOGY

interspecies	ortholog to rattus Ampd1
	ortholog to murine Ampd1

Homologene

FAMILY

adenosine and AMP deaminase family

CATEGORY

enzyme

SUBCELLULAR LOCALIZATION	extracellular
	intracellular
	intracellular,cytoplasm
	intracellular,nucleus

basic FUNCTION	catalyzing the deamination of AMP to IMP in skeletal muscle
	playing an important role in the purine nucleotide cycle

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

purine/pyrimidine

signaling

purine nucleotide cycle

a component

INTERACTION

DNA

RNA

small molecule

protein

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

AMPD1

Susceptibility

to coronary vascular disease

Variant & Polymorphism	a null allele 34C>T in Caucasian and Afro-american populations,leading to AMP* deficiency and variant (C34T) predicting improved cardiovascular survival in coronary artery disease

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS