InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Gene: AMPD3

Summary

InnateDB Gene

IDBG-31696.6

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

AMPD3

Gene Name

adenosine monophosphate deaminase 3

Synonyms

Species

Homo sapiens

Ensembl Gene

ENSG00000133805

Encoded Proteins

IDBP-237244

adenosine monophosphate deaminase 3

IDBP-237246

adenosine monophosphate deaminase 3

IDBP-366149

adenosine monophosphate deaminase 3

IDBP-589535

adenosine monophosphate deaminase 3

IDBP-594575

adenosine monophosphate deaminase 3

IDBP-586960

adenosine monophosphate deaminase 3

IDBP-595397

adenosine monophosphate deaminase 3

IDBP-602367

adenosine monophosphate deaminase 3

IDBP-599753

adenosine monophosphate deaminase 3

IDBP-597035

adenosine monophosphate deaminase 3

IDBP-603983

adenosine monophosphate deaminase 3

Protein Structure

Useful resources

Stemformatics EHFPI ImmGen

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]

Gene Information

Type

Protein coding

Genomic Location

Chromosome 11:10308313-10507579

Strand

Forward strand

Band

p15.4

Transcripts

ENST00000295663
ENST00000396554	ENSP00000379802
ENST00000396553	ENSP00000379801
ENST00000444303	ENSP00000396000
ENST00000527261
ENST00000532250	ENSP00000432707
ENST00000532966
ENST00000527369
ENST00000529835
ENST00000524866	ENSP00000433284
ENST00000534047	ENSP00000433937
ENST00000529834	ENSP00000435382
ENST00000528723	ENSP00000436987
ENST00000529507	ENSP00000431648
ENST00000531227
ENST00000533116	ENSP00000433351
ENST00000530864
ENST00000529744	ENSP00000434608

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 3 experimentally validated interaction(s) in this database.

Experimentally validated
Total	3 [view]
Protein-Protein	3 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Gene Ontology

Molecular Function

Accession	GO Term
GO:0003876	AMP deaminase activity
GO:0019239	deaminase activity
GO:0046872	metal ion binding

Biological Process

GO:0006144	purine nucleobase metabolic process
GO:0006188	IMP biosynthetic process
GO:0006196	AMP catabolic process
GO:0032264	IMP salvage
GO:0043101	purine-containing compound salvage
GO:0044281	small molecule metabolic process
GO:0046031	ADP metabolic process
GO:0046033	AMP metabolic process
GO:0046034	ATP metabolic process
GO:0055086	nucleobase-containing small molecule metabolic process
GO:0097009	energy homeostasis

Cellular Component

GO:0005829

cytosol

Orthologs

Species

Mus musculus

Bos taurus

Gene ID

Gene Order

ENSMUSG00000005686

View Gene Order

ENSBTAG00000015821

Not yet available

Pathways

NETPATH

REACTOME

REACT_1923

Purine salvage pathway

REACT_1698

Metabolism of nucleotides pathway

REACT_522

Purine metabolism pathway

REACT_111217

Metabolism pathway

KEGG

hsa00230

Purine metabolism pathway

INOH

INOH website

Purine nucleotides nucleosides metabolism pathway

PID NCI

Cross-References

SwissProt

TrEMBL

UniProt Splice Variant

Entrez Gene

UniGene

Hs.738353

RefSeq

NM_000480 NM_001025389 NM_001025390 NM_001172430 NM_001172431

HUGO

OMIM

CCDS

CCDS41617 CCDS44537 CCDS53601 CCDS7802

HPRD

00041

IMGT

EMBL

GenPept

RNA Seq Atlas