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    MAPDA N6-Methyl-AMP deaminase [ Homo sapiens (human) ]

    Gene ID: 161823, updated on 2-Nov-2024

    Summary

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    Official Symbol
    MAPDAprovided by HGNC
    Official Full Name
    N6-Methyl-AMP deaminaseprovided by HGNC
    Primary source
    HGNC:HGNC:31853
    See related
    Ensembl:ENSG00000168803 MIM:619346; AllianceGenome:HGNC:31853
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    ADAL; HsMAPDA
    Summary
    Predicted to enable adenosine deaminase activity. Predicted to be involved in adenosine catabolic process and inosine biosynthetic process. Predicted to be located in cytosol. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Broad expression in heart (RPKM 4.3), testis (RPKM 3.5) and 24 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See MAPDA in Genome Data Viewer
    Location:
    15q15.3
    Exon count:
    14
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 15 NC_000015.10 (43330351..43354569)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 15 NC_060939.1 (41137658..41161894)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 15 NC_000015.9 (43622549..43646767)

    Chromosome 15 - NC_000015.10Genomic Context describing neighboring genes Neighboring gene ATP synthase peripheral stalk subunit d pseudogene 1 Neighboring gene transglutaminase 7 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr15:43589862-43590498 Neighboring gene H3K27ac hESC enhancer GRCh37_chr15:43622679-43623629 Neighboring gene leucine carboxyl methyltransferase 2 Neighboring gene ReSE screen-validated silencer GRCh37_chr15:43647073-43647266 Neighboring gene zinc finger and SCAN domain containing 29 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6385 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9313 Neighboring gene tubulin gamma complex component 4 Neighboring gene RNA, 7SL, cytoplasmic 487, pseudogene

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues 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

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    Related articles in PubMed

    1. ADGR: Admixture-Informed Differential Gene Regulation. Lee IH, et al. Genes (Basel), 2023 Jan 5. PMID 36672888, Free PMC Article
    2. Mutations in adenosine deaminase-like (ADAL) protein confer resistance to the antiproliferative agents N6-cyclopropyl-PMEDAP and GS-9219. Frey CR, et al. Anticancer Res, 2013 May. PMID 23645737
    3. Adenosine deaminase-like protein 1 (ADAL1): characterization and substrate specificity in the hydrolysis of N(6)- or O(6)-substituted purine or 2-aminopurine nucleoside monophosphates. Murakami E, et al. J Med Chem, 2011 Aug 25. PMID 21755941
    4. Phylogenetic analysis reveals a novel protein family closely related to adenosine deaminase. Maier SA, et al. J Mol Evol, 2005 Dec. PMID 16245011
    5. SUMOylation of DDX39A Alters Binding and Export of Antiviral Transcripts to Control Innate Immunity. Shi P, et al. J Immunol, 2020 Jul 1. PMID 32393512

    See all (11) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. ADGR: Admixture-Informed Differential Gene Regulation.
      Title: ADGR: Admixture-Informed Differential Gene Regulation.
    2. Mutations in adenosine deaminase-like (ADAL) protein confer drug resistance in Uterine Cervical Neoplasms.
      Title: Mutations in adenosine deaminase-like (ADAL) protein confer resistance to the antiproliferative agents N6-cyclopropyl-PMEDAP and GS-9219.
    3. Data indicated that ADAL1 specifically acts at the 6-position of purine and 2-aminopurine nucleoside monophosphates.
      Title: Adenosine deaminase-like protein 1 (ADAL1): characterization and substrate specificity in the hydrolysis of N(6)- or O(6)-substituted purine or 2-aminopurine nucleoside monophosphates.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ44620, DKFZp313B2137

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables N6-methyl-AMP deaminase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables adenosine deaminase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    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 adenosine catabolic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in inosine biosynthetic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in nucleotide metabolic process IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    located_in cytosol TAS
    Traceable Author Statement
    more info
    		  

    General protein information

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    Preferred Names
    adenosine deaminase-like protein
    Names
    N6-mAMP deaminase
    N6-methyl-AMP aminohydrolase
    adenosine deaminase like
    NP_001012987.1
    NP_001152752.1
    NP_001311293.1
    NP_001311294.1
    NP_001311295.1
    NP_001311296.1
    NP_001311297.1
    XP_011519593.1
    XP_016877453.1
    XP_016877454.1
    XP_016877455.1
    XP_016877456.1
    XP_016877457.1
    XP_024305626.1
    XP_047288158.1
    XP_047288159.1
    XP_047288160.1
    XP_047288161.1
    XP_047288162.1
    XP_047288163.1
    XP_047288164.1
    XP_054233360.1
    XP_054233361.1
    XP_054233362.1
    XP_054233363.1
    XP_054233364.1
    XP_054233365.1
    XP_054233366.1
    XP_054233367.1
    XP_054233368.1
    XP_054233369.1
    XP_054233370.1
    XP_054233371.1
    XP_054233372.1
    XP_054233373.1

    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.

    mRNA and Protein(s)

    1. NM_001012969.4 → NP_001012987.1  adenosine deaminase-like protein isoform 2

      See identical proteins and their annotated locations for NP_001012987.1

      Status: VALIDATED

      Source sequence(s)
      AK298870, BC075857, BQ015642, HY164938
      Consensus CDS
      CCDS32214.1
      UniProtKB/Swiss-Prot
      Q6DHV7
      Related
      ENSP00000374302.4, ENST00000389651.8
      Conserved Domains (1) summary
      cd00443
      Location:18 → 257
      ADA_AMPD; Adenosine/AMP deaminase. Adenosine deaminases (ADAs) are present in pro- and eukaryotic organisms and catalyze the zinc dependent irreversible deamination of adenosine nucleosides to inosine nucleosides and ammonia. The eukaryotic AMP deaminase ...

    2. NM_001159280.3 → NP_001152752.1  adenosine deaminase-like protein isoform 1

      See identical proteins and their annotated locations for NP_001152752.1

      Status: VALIDATED

      Source sequence(s)
      AC018924, AK298870, BC075857, HY164938
      Consensus CDS
      CCDS53936.1
      UniProtKB/Swiss-Prot
      Q6DHV7
      Related
      ENSP00000413074.3, ENST00000428046.7
      Conserved Domains (1) summary
      cd00443
      Location:18 → 318
      ADA_AMPD; Adenosine/AMP deaminase. Adenosine deaminases (ADAs) are present in pro- and eukaryotic organisms and catalyze the zinc dependent irreversible deamination of adenosine nucleosides to inosine nucleosides and ammonia. The eukaryotic AMP deaminase ...

    3. NM_001324364.2 → NP_001311293.1  adenosine deaminase-like protein isoform 2

      Status: VALIDATED

      Source sequence(s)
      AC009852, AC018924
      Consensus CDS
      CCDS32214.1
      UniProtKB/Swiss-Prot
      Q6DHV7
      Conserved Domains (1) summary
      cd00443
      Location:18 → 257
      ADA_AMPD; Adenosine/AMP deaminase. Adenosine deaminases (ADAs) are present in pro- and eukaryotic organisms and catalyze the zinc dependent irreversible deamination of adenosine nucleosides to inosine nucleosides and ammonia. The eukaryotic AMP deaminase ...

    4. NM_001324365.2 → NP_001311294.1  adenosine deaminase-like protein isoform 2

      Status: VALIDATED

      Source sequence(s)
      AC009852, AC018924
      Consensus CDS
      CCDS32214.1
      UniProtKB/Swiss-Prot
      Q6DHV7
      Conserved Domains (1) summary
      cd00443
      Location:18 → 257
      ADA_AMPD; Adenosine/AMP deaminase. Adenosine deaminases (ADAs) are present in pro- and eukaryotic organisms and catalyze the zinc dependent irreversible deamination of adenosine nucleosides to inosine nucleosides and ammonia. The eukaryotic AMP deaminase ...

    5. NM_001324366.2 → NP_001311295.1  adenosine deaminase-like protein isoform 3

      Status: VALIDATED

      Source sequence(s)
      AC009852, AC018924
      Consensus CDS
      CCDS81868.1
      UniProtKB/Swiss-Prot
      A6NHZ3, B4DQM8, Q6DHV7
      Related
      ENSP00000456242.1, ENST00000562188.7
      Conserved Domains (1) summary
      cd00443
      Location:18 → 345
      ADA_AMPD; Adenosine/AMP deaminase. Adenosine deaminases (ADAs) are present in pro- and eukaryotic organisms and catalyze the zinc dependent irreversible deamination of adenosine nucleosides to inosine nucleosides and ammonia. The eukaryotic AMP deaminase ...

    6. NM_001324367.2 → NP_001311296.1  adenosine deaminase-like protein isoform 4

      Status: VALIDATED

      Source sequence(s)
      AC009852, AC018924
      Conserved Domains (1) summary
      cl00281
      Location:18 → 230
      metallo-dependent_hydrolases; Superfamily of metallo-dependent hydrolases (also called amidohydrolase superfamily) is a large group of proteins that show conservation in their 3-dimensional fold (TIM barrel) and in details of their active site. The vast majority of the members have a ...

    7. NM_001324368.2 → NP_001311297.1  adenosine deaminase-like protein isoform 2

      Status: VALIDATED

      Source sequence(s)
      AC009852, AC018924
      Consensus CDS
      CCDS32214.1
      UniProtKB/Swiss-Prot
      Q6DHV7
      Conserved Domains (1) summary
      cd00443
      Location:18 → 257
      ADA_AMPD; Adenosine/AMP deaminase. Adenosine deaminases (ADAs) are present in pro- and eukaryotic organisms and catalyze the zinc dependent irreversible deamination of adenosine nucleosides to inosine nucleosides and ammonia. The eukaryotic AMP deaminase ...

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000015.10 Reference GRCh38.p14 Primary Assembly

      Range
      43330351..43354569
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017021965.2 → XP_016877454.1  adenosine deaminase-like protein isoform X1

      UniProtKB/Swiss-Prot
      A6NHZ3, B4DQM8, Q6DHV7
      Conserved Domains (1) summary
      cd00443
      Location:18 → 345
      ADA_AMPD; Adenosine/AMP deaminase. Adenosine deaminases (ADAs) are present in pro- and eukaryotic organisms and catalyze the zinc dependent irreversible deamination of adenosine nucleosides to inosine nucleosides and ammonia. The eukaryotic AMP deaminase ...

    2. XM_047432207.1 → XP_047288163.1  adenosine deaminase-like protein isoform X4

    3. XM_047432203.1 → XP_047288159.1  adenosine deaminase-like protein isoform X2

    4. XM_017021968.2 → XP_016877457.1  adenosine deaminase-like protein isoform X4

      Conserved Domains (1) summary
      cl00281
      Location:18 → 257
      metallo-dependent_hydrolases; Superfamily of metallo-dependent hydrolases (also called amidohydrolase superfamily) is a large group of proteins that show conservation in their 3-dimensional fold (TIM barrel) and in details of their active site. The vast majority of the members have a ...

    5. XM_047432208.1 → XP_047288164.1  adenosine deaminase-like protein isoform X5

    6. XM_011521291.3 → XP_011519593.1  adenosine deaminase-like protein isoform X1

      See identical proteins and their annotated locations for XP_011519593.1

      UniProtKB/Swiss-Prot
      A6NHZ3, B4DQM8, Q6DHV7
      Conserved Domains (1) summary
      cd00443
      Location:18 → 345
      ADA_AMPD; Adenosine/AMP deaminase. Adenosine deaminases (ADAs) are present in pro- and eukaryotic organisms and catalyze the zinc dependent irreversible deamination of adenosine nucleosides to inosine nucleosides and ammonia. The eukaryotic AMP deaminase ...

    7. XM_047432205.1 → XP_047288161.1  adenosine deaminase-like protein isoform X4

    8. XM_024449858.2 → XP_024305626.1  adenosine deaminase-like protein isoform X2

      Related
      ENSP00000398744.3, ENST00000422466.6
      Conserved Domains (1) summary
      cd00443
      Location:18 → 318
      ADA_AMPD; Adenosine/AMP deaminase. Adenosine deaminases (ADAs) are present in pro- and eukaryotic organisms and catalyze the zinc dependent irreversible deamination of adenosine nucleosides to inosine nucleosides and ammonia. The eukaryotic AMP deaminase ...

    9. XM_017021967.2 → XP_016877456.1  adenosine deaminase-like protein isoform X3

    10. XM_017021966.3 → XP_016877455.1  adenosine deaminase-like protein isoform X1

      UniProtKB/Swiss-Prot
      A6NHZ3, B4DQM8, Q6DHV7
      Conserved Domains (1) summary
      cd00443
      Location:18 → 345
      ADA_AMPD; Adenosine/AMP deaminase. Adenosine deaminases (ADAs) are present in pro- and eukaryotic organisms and catalyze the zinc dependent irreversible deamination of adenosine nucleosides to inosine nucleosides and ammonia. The eukaryotic AMP deaminase ...

    11. XM_047432204.1 → XP_047288160.1  adenosine deaminase-like protein isoform X2

    12. XM_017021964.3 → XP_016877453.1  adenosine deaminase-like protein isoform X1

      UniProtKB/Swiss-Prot
      A6NHZ3, B4DQM8, Q6DHV7
      Conserved Domains (1) summary
      cd00443
      Location:18 → 345
      ADA_AMPD; Adenosine/AMP deaminase. Adenosine deaminases (ADAs) are present in pro- and eukaryotic organisms and catalyze the zinc dependent irreversible deamination of adenosine nucleosides to inosine nucleosides and ammonia. The eukaryotic AMP deaminase ...

    13. XM_047432206.1 → XP_047288162.1  adenosine deaminase-like protein isoform X4

    14. XM_047432202.1 → XP_047288158.1  adenosine deaminase-like protein isoform X2

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060939.1 Alternate T2T-CHM13v2.0

      Range
      41137658..41161894
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054377387.1 → XP_054233362.1  adenosine deaminase-like protein isoform X1

      UniProtKB/Swiss-Prot
      A6NHZ3, B4DQM8, Q6DHV7

    2. XM_054377397.1 → XP_054233372.1  adenosine deaminase-like protein isoform X4

    3. XM_054377391.1 → XP_054233366.1  adenosine deaminase-like protein isoform X2

    4. XM_054377394.1 → XP_054233369.1  adenosine deaminase-like protein isoform X4

    5. XM_054377398.1 → XP_054233373.1  adenosine deaminase-like protein isoform X5

    6. XM_054377385.1 → XP_054233360.1  adenosine deaminase-like protein isoform X1

      UniProtKB/Swiss-Prot
      A6NHZ3, B4DQM8, Q6DHV7

    7. XM_054377395.1 → XP_054233370.1  adenosine deaminase-like protein isoform X4

    8. XM_054377389.1 → XP_054233364.1  adenosine deaminase-like protein isoform X2

    9. XM_054377393.1 → XP_054233368.1  adenosine deaminase-like protein isoform X3

    10. XM_054377388.1 → XP_054233363.1  adenosine deaminase-like protein isoform X1

      UniProtKB/Swiss-Prot
      A6NHZ3, B4DQM8, Q6DHV7

    11. XM_054377392.1 → XP_054233367.1  adenosine deaminase-like protein isoform X2

    12. XM_054377386.1 → XP_054233361.1  adenosine deaminase-like protein isoform X1

      UniProtKB/Swiss-Prot
      A6NHZ3, B4DQM8, Q6DHV7

    13. XM_054377396.1 → XP_054233371.1  adenosine deaminase-like protein isoform X4

    14. XM_054377390.1 → XP_054233365.1  adenosine deaminase-like protein isoform X2

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q6DHV7.2 GenPept UniProtKB/Swiss-Prot:Q6DHV7

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