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Aliases for ADPRM Gene

Aliases for ADPRM Gene

  • ADP-Ribose/CDP-Alcohol Diphosphatase, Manganese Dependent 2 3 5
  • CDP-Choline Phosphohydrolase 3 4
  • ADPRibase-Mn 3 4
  • C17orf48 3 4
  • ADP-Ribose/CDP-Alcohol Diphosphatase, Manganese-Dependent 2
  • Manganese-Dependent ADP-Ribose/CDP-Alcohol Diphosphatase 3
  • ADP-Ribose/CDP-Alcohol Pyrophosphatase 3
  • Chromosome 17 Open Reading Frame 48 2
  • EC 3.6.1.13 4
  • EC 3.6.1.16 4
  • EC 3.6.1.53 4
  • NBLA03831 3
  • MDS006 3

External Ids for ADPRM Gene

Previous HGNC Symbols for ADPRM Gene

  • C17orf48

Summaries for ADPRM Gene

GeneCards Summary for ADPRM Gene

ADPRM (ADP-Ribose/CDP-Alcohol Diphosphatase, Manganese Dependent) is a Protein Coding gene. Diseases associated with ADPRM include Leigh Syndrome. Among its related pathways are Pyrimidine metabolism (KEGG) and Metabolism. Gene Ontology (GO) annotations related to this gene include hydrolase activity and CDP-glycerol diphosphatase activity.

UniProtKB/Swiss-Prot for ADPRM Gene

  • Hydrolyzes ADP-ribose, IDP-ribose, CDP-glycerol, CDP-choline and CDP-ethanolamine, but not other non-reducing ADP-sugars or CDP-glucose. May be involved in immune cell signaling as suggested by the second-messenger role of ADP-ribose, which activates TRPM2 as a mediator of oxidative/nitrosative stress (By similarity).

Additional gene information for ADPRM Gene

No data available for Entrez Gene Summary , CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ADPRM Gene

Genomics for ADPRM Gene

GeneHancer (GH) Regulatory Elements for ADPRM Gene

Promoters and enhancers for ADPRM Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH17J010695 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 701.9 +0.6 645 5.7 PKNOX1 ARID4B SIN3A DMAP1 ZNF2 IRF4 YY1 POLR2B E2F8 ZNF143 ADPRM SCO1 ENSG00000261433 MYH3 TMEM220
GH17J010728 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE dbSUPER 47.1 +32.6 32561 3.6 RB1 ARID4B SIN3A DMAP1 ZNF48 YY1 ZNF614 GLIS2 EGR1 ZNF548 TMEM220 TMEM220-AS1 ENSG00000285220 ADPRM ENSG00000261433 MAGOH2P
GH17J010793 Promoter/Enhancer 1.7 EPDnew Ensembl ENCODE dbSUPER 34.3 +101.5 101539 11.7 PKNOX1 CLOCK NFIB ZSCAN4 NEUROD1 YY1 FOS EGR2 RXRA GATAD2B TMEM238L ADPRM SCO1 ENSG00000261433 PIRT MAGOH2P MYH3 TMEM220-AS1 ENSG00000263508 ENSG00000266114
GH17J010755 Enhancer 1.3 FANTOM5 ENCODE dbSUPER 42.4 +59.2 59232 3.6 FOXA2 ARID4B BATF RAD21 RARA YY1 EGR1 ZNF366 RXRA GATAD2B ADPRM ENSG00000261433 TMEM220-AS1 ENSG00000264016 TMEM220 PIRT SHISA6 GC17M010753 ENSG00000240813 ENSG00000285220
GH17J010723 Enhancer 1 ENCODE dbSUPER 39.6 +28.3 28280 4 FOXA2 MLX RAD21 RARA YY1 EGR1 FOS MIXL1 HMG20B RXRA ADPRM TMEM220 MYH3 TMEM220-AS1 ENSG00000285220 MAGOH2P
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around ADPRM on UCSC Golden Path with GeneCards custom track

Genomic Locations for ADPRM Gene

Genomic Locations for ADPRM Gene
chr17:10,697,594-10,711,558
(GRCh38/hg38)
Size:
13,965 bases
Orientation:
Plus strand
chr17:10,600,911-10,614,875
(GRCh37/hg19)

Genomic View for ADPRM Gene

Genes around ADPRM on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ADPRM Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ADPRM Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ADPRM Gene

Proteins for ADPRM Gene

  • Protein details for ADPRM Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q3LIE5-ADPRM_HUMAN
    Recommended name:
    Manganese-dependent ADP-ribose/CDP-alcohol diphosphatase
    Protein Accession:
    Q3LIE5
    Secondary Accessions:
    • A8K9B4
    • D3DTS4
    • Q9BVD4
    • Q9NRU8

    Protein attributes for ADPRM Gene

    Size:
    342 amino acids
    Molecular mass:
    39529 Da
    Cofactor:
    Name=Mg(2+); Xref=ChEBI:CHEBI:18420;
    Quaternary structure:
    • Monomer.
    SequenceCaution:
    • Sequence=AAF87317.1; Type=Frameshift; Positions=Several; Evidence={ECO:0000305};

    Alternative splice isoforms for ADPRM Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ADPRM Gene

Post-translational modifications for ADPRM Gene

No Post-translational modifications

Other Protein References for ADPRM Gene

No data available for DME Specific Peptides for ADPRM Gene

Domains & Families for ADPRM Gene

Gene Families for ADPRM Gene

HGNC:
Human Protein Atlas (HPA):
  • Enzymes
  • Predicted intracellular proteins
  • Predicted membrane proteins

Protein Domains for ADPRM Gene

Suggested Antigen Peptide Sequences for ADPRM Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q3LIE5

UniProtKB/Swiss-Prot:

ADPRM_HUMAN :
  • Belongs to the ADPRibase-Mn family.
Family:
  • Belongs to the ADPRibase-Mn family.
genes like me logo Genes that share domains with ADPRM: view

Function for ADPRM Gene

Molecular function for ADPRM Gene

UniProtKB/Swiss-Prot Function:
Hydrolyzes ADP-ribose, IDP-ribose, CDP-glycerol, CDP-choline and CDP-ethanolamine, but not other non-reducing ADP-sugars or CDP-glucose. May be involved in immune cell signaling as suggested by the second-messenger role of ADP-ribose, which activates TRPM2 as a mediator of oxidative/nitrosative stress (By similarity).
UniProtKB/Swiss-Prot CatalyticActivity:
CDP-choline + H(2)O = CMP + phosphocholine.
UniProtKB/Swiss-Prot CatalyticActivity:
ADP-D-ribose + H(2)O = AMP + D-ribose 5-phosphate.
UniProtKB/Swiss-Prot CatalyticActivity:
CDP-glycerol + H(2)O = CMP + sn-glycerol 3-phosphate.

Enzyme Numbers (IUBMB) for ADPRM Gene

Phenotypes From GWAS Catalog for ADPRM Gene

Gene Ontology (GO) - Molecular Function for ADPRM Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016787 hydrolase activity IEA --
GO:0046872 metal ion binding IEA --
GO:0047631 ADP-ribose diphosphatase activity TAS --
GO:0047734 CDP-glycerol diphosphatase activity IEA --
genes like me logo Genes that share ontologies with ADPRM: view
genes like me logo Genes that share phenotypes with ADPRM: view

Animal Model Products

  • Taconic Biosciences Mouse Models for ADPRM

CRISPR Products

miRNA for ADPRM Gene

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ADPRM

Clone Products

No data available for Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for ADPRM Gene

Localization for ADPRM Gene

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for ADPRM gene
Compartment Confidence
cytosol 5
nucleus 3
mitochondrion 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for ADPRM Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005829 cytosol TAS --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with ADPRM: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Subcellular locations from the Human Protein Atlas (HPA) for ADPRM Gene

Pathways & Interactions for ADPRM Gene

genes like me logo Genes that share pathways with ADPRM: view

Pathways by source for ADPRM Gene

Interacting Proteins for ADPRM Gene

Gene Ontology (GO) - Biological Process for ADPRM Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0034656 nucleobase-containing small molecule catabolic process TAS --
genes like me logo Genes that share ontologies with ADPRM: view

No data available for SIGNOR curated interactions for ADPRM Gene

Drugs & Compounds for ADPRM Gene

(4) Drugs for ADPRM Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Citicoline Approved, Investigational Pharma 0
Water Approved Pharma 0
Adenosine monophosphate Approved, Investigational Nutra 0
Cytidine monophosphate Experimental Pharma 0

(5) Additional Compounds for ADPRM Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Adenosine diphosphate ribose
  • (Rib5)ppa
  • 5-(Adenosine 5'-pyrophosphoryl)-D-ribose
  • a5'pp5RIb
  • Adenosine 5'-diphosphoribose
  • AdoPPRib
20762-30-5
CDP-glycerol
D-Ribose 5-phosphate
  • D-Ribose 5'-phosphate
  • D-Ribose-5-P
  • Ribose 5-phosphate
  • D-Ribose 5'-phosphoric acid
  • D-Ribose 5-phosphoric acid
3615-55-2
glycerol 3-phosphate
  • (R)-Glycerol 1-phosphate
  • D-(Glycerol 1-phosphate)
  • D-Glycerol 1-phosphate
  • Glycerol-3-phosphate
  • Glycerophosphoric acid
57-03-4
phosphorylcholine
  • Choline phosphate
  • CHOP
  • N-Trimethyl-2-aminoethylphosphonate
  • O-Phosphocholine
  • Phosphoryl-choline
3616-04-4
genes like me logo Genes that share compounds with ADPRM: view

Transcripts for ADPRM Gene

mRNA/cDNA for ADPRM Gene

(84) Selected AceView cDNA sequences:
(3) Additional mRNA sequences :
(2) REFSEQ mRNAs :
(4) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for ADPRM Gene

ADP-ribose/CDP-alcohol diphosphatase, manganese-dependent:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ADPRM

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for ADPRM Gene

ExUns: 1 ^ 2a · 2b ^ 3 ^ 4
SP1:
SP2: -
SP3:

Relevant External Links for ADPRM Gene

GeneLoc Exon Structure for
ADPRM
ECgene alternative splicing isoforms for
ADPRM

Expression for ADPRM Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for ADPRM Gene

Protein differential expression in normal tissues from HIPED for ADPRM Gene

This gene is overexpressed in Testis (32.7), CD8 Tcells (19.9), and Platelet (16.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for ADPRM Gene



Protein tissue co-expression partners for ADPRM Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of ADPRM Gene:

ADPRM

SOURCE GeneReport for Unigene cluster for ADPRM Gene:

Hs.47668
genes like me logo Genes that share expression patterns with ADPRM: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer for ADPRM Gene

Orthologs for ADPRM Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for ADPRM Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia ADPRM 34 33
  • 99.32 (n)
OneToOne
dog
(Canis familiaris)
Mammalia ADPRM 34 33
  • 87.14 (n)
OneToOne
cow
(Bos Taurus)
Mammalia ADPRM 34 33
  • 86.65 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Adprm 16 34 33
  • 84.9 (n)
rat
(Rattus norvegicus)
Mammalia Adprm 33
  • 83.78 (n)
oppossum
(Monodelphis domestica)
Mammalia ADPRM 34
  • 61 (a)
OneToOne
chicken
(Gallus gallus)
Aves C17ORF48 33
  • 65.01 (n)
lizard
(Anolis carolinensis)
Reptilia ADPRM 34
  • 57 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia adprm 33
  • 60.64 (n)
African clawed frog
(Xenopus laevis)
Amphibia mds006-prov 33
zebrafish
(Danio rerio)
Actinopterygii adprm 34 33
  • 55.52 (n)
OneToOne
zgc64213 33
thale cress
(Arabidopsis thaliana)
eudicotyledons AT4G24730 33
  • 49.61 (n)
rice
(Oryza sativa)
Liliopsida Os08g0557200 33
  • 49.94 (n)
Os.31656 33
Species where no ortholog for ADPRM was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for ADPRM Gene

ENSEMBL:
Gene Tree for ADPRM (if available)
TreeFam:
Gene Tree for ADPRM (if available)
Aminode:
Evolutionary constrained regions (ECRs) for ADPRM: view image

Paralogs for ADPRM Gene

No data available for Paralogs for ADPRM Gene

Variants for ADPRM Gene

Sequence variations from dbSNP and Humsavar for ADPRM Gene

SNP ID Clin Chr 17 pos Variation AA Info Type
rs11538237 benign, likely-benign, not specified, Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency, Leigh syndrome 10,695,808(+) T/C upstream_transcript_variant
rs1802083 benign, likely-benign, not specified, Leigh syndrome, Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency 10,697,336(+) G/A upstream_transcript_variant
rs2520169 likely-benign, Leigh syndrome, Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency 10,697,578(+) C/A/T upstream_transcript_variant
rs370147170 uncertain-significance, Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency, Leigh syndrome 10,697,284(+) G/A/C/T upstream_transcript_variant
rs539094737 uncertain-significance, Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency, Leigh syndrome 10,695,801(+) A/C upstream_transcript_variant

Structural Variations from Database of Genomic Variants (DGV) for ADPRM Gene

Variant ID Type Subtype PubMed ID
esv2675560 CNV deletion 23128226
esv3639941 CNV loss 21293372
esv3639942 CNV loss 21293372
nsv1058835 CNV loss 25217958
nsv1063900 CNV gain 25217958
nsv1065819 CNV gain 25217958
nsv833367 CNV loss 17160897

Variation tolerance for ADPRM Gene

Residual Variation Intolerance Score: 57.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 9.49; 88.75% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for ADPRM Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
ADPRM

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ADPRM Gene

Disorders for ADPRM Gene

MalaCards: The human disease database

(1) MalaCards diseases for ADPRM Gene - From: GeneCards

Disorder Aliases PubMed IDs
leigh syndrome
  • ls
- elite association - COSMIC cancer census association via MalaCards
Search ADPRM in MalaCards View complete list of genes associated with diseases

Additional Disease Information for ADPRM

genes like me logo Genes that share disorders with ADPRM: view

No data available for UniProtKB/Swiss-Prot and Genatlas for ADPRM Gene

Publications for ADPRM Gene

  1. Mn2+-dependent ADP-ribose/CDP-alcohol pyrophosphatase: a novel metallophosphoesterase family preferentially expressed in rodent immune cells. (PMID: 18352857) Canales J … Costas MJ (The Biochemical journal 2008) 2 3 58
  2. Molecular bases of catalysis and ADP-ribose preference of human Mn2+-dependent ADP-ribose/CDP-alcohol diphosphatase and conversion by mutagenesis to a preferential cyclic ADP-ribose phosphohydrolase. (PMID: 25692488) Cabezas A … Cameselle JC (PloS one 2015) 3 58
  3. N-terminal acetylome analyses and functional insights of the N-terminal acetyltransferase NatB. (PMID: 22814378) Van Damme P … Aldabe R (Proceedings of the National Academy of Sciences of the United States of America 2012) 4 58
  4. A genome-wide short hairpin RNA screening of jurkat T-cells for human proteins contributing to productive HIV-1 replication. (PMID: 19460752) Yeung ML … Jeang KT (The Journal of biological chemistry 2009) 3 58
  5. Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. (PMID: 16344560) Kimura K … Sugano S (Genome research 2006) 3 58

Products for ADPRM Gene

Sources for ADPRM Gene

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