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AMPD1 adenosine monophosphate deaminase 1 [ Homo sapiens (human) ]

Gene ID: 270, updated on 26-Nov-2021

Summary

Official Symbol
AMPD1provided by HGNC
Official Full Name
adenosine monophosphate deaminase 1provided by HGNC
Primary source
HGNC:HGNC:468
See related
Ensembl:ENSG00000116748 MIM:102770
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
MAD; MADA; MMDD
Summary
Adenosine monophosphate deaminase 1 catalyzes the deamination of AMP to IMP in skeletal muscle and plays an important role in the purine nucleotide cycle. Two other genes have been identified, AMPD2 and AMPD3, for the liver- and erythocyte-specific isoforms, respectively. Deficiency of the muscle-specific enzyme is apparently a common cause of exercise-induced myopathy and probably the most common cause of metabolic myopathy in the human. Alternatively spliced transcript variants encoding different isoforms have been identified in this gene.[provided by RefSeq, Feb 2010]
Expression
Biased expression in duodenum (RPKM 8.5), prostate (RPKM 4.6) and 8 other tissues See more
Orthologs
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Genomic context

See AMPD1 in Genome Data Viewer
Location:
1p13.2
Exon count:
16
Annotation release Status Assembly Chr Location
109.20211119 current GRCh38.p13 (GCF_000001405.39) 1 NC_000001.11 (114673098..114695546, complement)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (115215719..115238239, complement)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene BCAS2 pre-mRNA processing factor Neighboring gene uncharacterized LOC105378914 Neighboring gene DENN domain containing 2C Neighboring gene RNA, 7SL, cytoplasmic 432, pseudogene Neighboring gene NRAS proto-oncogene, GTPase

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Common genetic variants on 1p13.2 associate with risk of autism.
GeneReviews: Not available
Muscle AMP deaminase deficiency
MedGen: C3714933 OMIM: 615511 GeneReviews: Not available
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Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables AMP deaminase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables identical protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables metal ion binding IEA
Inferred from Electronic Annotation
more info
 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
involved_in AMP metabolic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in GMP salvage IDA
Inferred from Direct Assay
more info
PubMed 
involved_in IMP biosynthetic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in IMP salvage IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
is_active_in cytosol IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in cytosol TAS
Traceable Author Statement
more info
 

General protein information

Preferred Names
AMP deaminase 1
Names
AMPD
adenosine monophosphate deaminase 1 (isoform M)
adenosine monophosphate deaminase-1 (muscle)
myoadenylate deaminase
skeletal muscle AMPD
NP_000027.3
NP_001166097.2

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_008012.1 RefSeqGene

    Range
    4938..27458
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_000036.3NP_000027.3  AMP deaminase 1 isoform 1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes the longer isoform (1).
    Source sequence(s)
    AL096773
    Consensus CDS
    CCDS876.2
    Related
    ENSP00000430075.3, ENST00000520113.7
    Conserved Domains (1) summary
    cd01319
    Location:240736
    AMPD; AMP deaminase (AMPD) catalyzes the hydrolytic deamination of adensosine monophosphate (AMP) at position 6 of the adenine nucleotide ring. AMPD is a diverse and highly regulated eukaryotic key enzyme of the adenylate catabolic pathway.
  2. NM_001172626.2NP_001166097.2  AMP deaminase 1 isoform 2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks an in-frame coding exon in the 5' region, as compared to variant 1. The resulting isoform (2) is shorter than isoform 1.
    Source sequence(s)
    AL096773
    Consensus CDS
    CCDS53349.1
    Related
    ENSP00000358551.4, ENST00000369538.4
    Conserved Domains (1) summary
    cd01319
    Location:236732
    AMPD; AMP deaminase (AMPD) catalyzes the hydrolytic deamination of adensosine monophosphate (AMP) at position 6 of the adenine nucleotide ring. AMPD is a diverse and highly regulated eukaryotic key enzyme of the adenylate catabolic pathway.

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20211119

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p13 Primary Assembly

    Range
    114673098..114695546 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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