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

Summary

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 act upstream of or within response to alcohol. Predicted to be located in cytosol. [provided by Alliance of Genome Resources, Dec 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

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_000015.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Tissue-specific circular RNA induction during human fetal development
Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
BioProject: PRJNA270632
Publication: PMID 26076956
Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

ADGR: Admixture-Informed Differential Gene Regulation.
Title: ADGR: Admixture-Informed Differential Gene Regulation.
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.
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)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

A010A25 (e-PCR)
- UniSTS:81196

GDB:314949 (e-PCR)
- UniSTS:156503

G33049 (e-PCR)
- UniSTS:117626

D5S1597E (e-PCR)
- UniSTS:151019

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
involved_in response to alcohol	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: N6-Methyl-AMP deaminase; adenosine deaminase-like protein

Names: N6-mAMP deaminase; N6-methyl-AMP aminohydrolase; adenosine deaminase like

NP_001012987.1

EC 3.5.4.-

NP_001152752.1

EC 3.5.4.-

NP_001311293.1

EC 3.5.4.-

NP_001311294.1

EC 3.5.4.-

NP_001311295.1

EC 3.5.4.-

NP_001311296.1

EC 3.5.4.-

NP_001311297.1

EC 3.5.4.-

XP_011519593.1

EC 3.5.4.-

XP_016877453.1

EC 3.5.4.-

XP_016877454.1

EC 3.5.4.-

XP_016877455.1

EC 3.5.4.-

XP_016877456.1

EC 3.5.4.-

XP_016877457.1

EC 3.5.4.-

XP_024305626.1

EC 3.5.4.-

XP_047288158.1

EC 3.5.4.-

XP_047288159.1

EC 3.5.4.-

XP_047288160.1

EC 3.5.4.-

XP_047288161.1

EC 3.5.4.-

XP_047288162.1

EC 3.5.4.-

XP_047288163.1

EC 3.5.4.-

XP_047288164.1

EC 3.5.4.-

XP_054233360.1

EC 3.5.4.-

XP_054233361.1

EC 3.5.4.-

XP_054233362.1

EC 3.5.4.-

XP_054233363.1

EC 3.5.4.-

XP_054233364.1

EC 3.5.4.-

XP_054233365.1

EC 3.5.4.-

XP_054233366.1

EC 3.5.4.-

XP_054233367.1

EC 3.5.4.-

XP_054233368.1

EC 3.5.4.-

XP_054233369.1

EC 3.5.4.-

XP_054233370.1

EC 3.5.4.-

XP_054233371.1

EC 3.5.4.-

XP_054233372.1

EC 3.5.4.-

XP_054233373.1

EC 3.5.4.-

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)

NM_001012969.4 → NP_001012987.1 N6-Methyl-AMP deaminase 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 ...
NM_001159280.3 → NP_001152752.1 N6-Methyl-AMP deaminase 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 ...
NM_001324364.2 → NP_001311293.1 N6-Methyl-AMP deaminase 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 ...
NM_001324365.2 → NP_001311294.1 N6-Methyl-AMP deaminase 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 ...
NM_001324366.2 → NP_001311295.1 N6-Methyl-AMP deaminase 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 ...
NM_001324367.2 → NP_001311296.1 N6-Methyl-AMP deaminase 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 ...
NM_001324368.2 → NP_001311297.1 N6-Methyl-AMP deaminase 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

NC_000015.10 Reference GRCh38.p14 Primary Assembly

Range

43330351..43354569

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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 ...
XM_047432207.1 → XP_047288163.1 adenosine deaminase-like protein isoform X4
XM_047432203.1 → XP_047288159.1 adenosine deaminase-like protein isoform X2
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 ...
XM_047432208.1 → XP_047288164.1 adenosine deaminase-like protein isoform X5
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 ...
XM_047432205.1 → XP_047288161.1 adenosine deaminase-like protein isoform X4
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 ...
XM_017021967.2 → XP_016877456.1 adenosine deaminase-like protein isoform X3
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 ...
XM_047432204.1 → XP_047288160.1 adenosine deaminase-like protein isoform X2
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 ...
XM_047432206.1 → XP_047288162.1 adenosine deaminase-like protein isoform X4
XM_047432202.1 → XP_047288158.1 adenosine deaminase-like protein isoform X2

Alternate T2T-CHM13v2.0

Genomic

NC_060939.1 Alternate T2T-CHM13v2.0

Range

41137658..41161894

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

UniProtKB/Swiss-Prot

A6NHZ3, B4DQM8, Q6DHV7
XM_054377397.1 → XP_054233372.1 adenosine deaminase-like protein isoform X4
XM_054377391.1 → XP_054233366.1 adenosine deaminase-like protein isoform X2
XM_054377394.1 → XP_054233369.1 adenosine deaminase-like protein isoform X4
XM_054377398.1 → XP_054233373.1 adenosine deaminase-like protein isoform X5
XM_054377385.1 → XP_054233360.1 adenosine deaminase-like protein isoform X1

UniProtKB/Swiss-Prot

A6NHZ3, B4DQM8, Q6DHV7
XM_054377395.1 → XP_054233370.1 adenosine deaminase-like protein isoform X4
XM_054377389.1 → XP_054233364.1 adenosine deaminase-like protein isoform X2
XM_054377393.1 → XP_054233368.1 adenosine deaminase-like protein isoform X3
XM_054377388.1 → XP_054233363.1 adenosine deaminase-like protein isoform X1

UniProtKB/Swiss-Prot

A6NHZ3, B4DQM8, Q6DHV7
XM_054377392.1 → XP_054233367.1 adenosine deaminase-like protein isoform X2
XM_054377386.1 → XP_054233361.1 adenosine deaminase-like protein isoform X1

UniProtKB/Swiss-Prot

A6NHZ3, B4DQM8, Q6DHV7
XM_054377396.1 → XP_054233371.1 adenosine deaminase-like protein isoform X4
XM_054377390.1 → XP_054233365.1 adenosine deaminase-like protein isoform X2