Aliases for ADAL Gene

Aliases for ADAL Gene

  • Adenosine Deaminase Like 2 3 5
  • Adenosine Deaminase-Like Protein 3 4
  • EC 3.5.4.- 4
  • EC 3.5.4 54

External Ids for ADAL Gene

Previous GeneCards Identifiers for ADAL Gene

  • GC15P041416
  • GC15P043622
  • GC15P020471

Summaries for ADAL Gene

GeneCards Summary for ADAL Gene

ADAL (Adenosine Deaminase Like) is a Protein Coding gene. Diseases associated with ADAL include Autosomal Dominant Non-Syndromic Intellectual Disability. Among its related pathways are Metabolism of nucleotides and Metabolism. Gene Ontology (GO) annotations related to this gene include adenosine deaminase activity and deaminase activity. An important paralog of this gene is ADA.

UniProtKB/Swiss-Prot Summary for ADAL Gene

  • Putative nucleoside deaminase. May catalyze the hydrolytic deamination of adenosine or some similar substrate and play a role in purine metabolism (By similarity).

Additional gene information for ADAL Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for ADAL Gene

Genomics for ADAL Gene

GeneHancer (GH) Regulatory Elements for ADAL Gene

Promoters and enhancers for ADAL 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
GH15J043328 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas 798.7 -0.1 -109 3.1 SIN3A SP1 ZBTB40 RBPJ SMARCE1 POLR2A NR2F1 NR2F6 ATF1 CREB1 ADAL LCMT2 lnc-TUBGCP4-2 CDAN1 ZSCAN29 UBR1 TP53BP1 MFAP1 STRCP1 TGM7
GH15J043368 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas 45.7 +40.3 40345 3.8 ZBTB40 CTCF RBPJ POLR2A NR2F6 MYC ELF1 HLF L3MBTL2 MAX ZSCAN29 5EW4_A-015 TUBGCP4 lnc-TP53BP1-4 ADAL TGM7 UBR1 MFAP1 CDAN1 STARD9
GH15J043491 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE CraniofacialAtlas 37.9 +162.9 162877 3.2 ZBTB40 SP1 RBPJ POLR2A ATF1 FOS CREB1 NFYC HLF L3MBTL2 lnc-PPIP5K1-3 TP53BP1 ZSCAN29 ADAL TGM7 CTDSPL2 MFAP1 UBR1 FDPSP4 MAP1A
GH15J043508 Promoter/Enhancer 2.5 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 24.9 +179.8 179825 3.6 ZNF785 SP1 CTCF SMARCE1 POLR2A NR2F6 MYC CC2D1A NFYC L3MBTL2 TP53BP1 MAP1A lnc-TP53BP1-2 ZSCAN29 CTDSPL2 ADAL UBR1 MFAP1 CDAN1 LCMT2
GH15J043512 Promoter/Enhancer 2.1 FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 22.7 +185.5 185545 7.4 CTCF SMARCE1 CC2D1A RAD21 DACH1 TEAD4 NFIB ZNF652 ZNF148 CBFA2T2 ZSCAN29 ADAL MAP1A NONHSAG016709.2
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around ADAL on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the ADAL gene promoter:
  • CHOP-10
  • Evi-1
  • HTF
  • NF-AT
  • NF-AT1
  • NF-AT2
  • NF-AT3
  • NF-AT4
  • POU3F2
  • TBP

Genomic Locations for ADAL Gene

Genomic Locations for ADAL Gene
chr15:43,330,356-43,354,555
(GRCh38/hg38)
Size:
24,200 bases
Orientation:
Plus strand
chr15:43,622,872-43,646,096
(GRCh37/hg19)
Size:
23,225 bases
Orientation:
Plus strand

Genomic View for ADAL Gene

Genes around ADAL on UCSC Golden Path with GeneCards custom track

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

RefSeq DNA sequence for ADAL Gene

Proteins for ADAL Gene

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

    Protein Symbol:
    Q6DHV7-ADAL_HUMAN
    Recommended name:
    Adenosine deaminase-like protein
    Protein Accession:
    Q6DHV7
    Secondary Accessions:
    • A6NHZ3
    • B4DQM8

    Protein attributes for ADAL Gene

    Size:
    355 amino acids
    Molecular mass:
    40264 Da
    Cofactor:
    Name=Zn(2+); Xref=ChEBI:CHEBI:29105;
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for ADAL Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ADAL Gene

Selected DME Specific Peptides for ADAL Gene

Q6DHV7:
  • PDRIGHGTFL
  • PKVELHAHL
  • VTKDVIKEFA
  • DGVKYLELRSTPR
  • HHFGFWY

Post-translational modifications for ADAL Gene

No Post-translational modifications

Domains & Families for ADAL Gene

Gene Families for ADAL Gene

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

Protein Domains for ADAL Gene

Suggested Antigen Peptide Sequences for ADAL Gene

GenScript: Design optimal peptide antigens:
  • Adenosine deaminase-like protein (ADAL_HUMAN)
  • cDNA FLJ60799 (B4DQM8_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q6DHV7

UniProtKB/Swiss-Prot:

ADAL_HUMAN :
  • Belongs to the metallo-dependent hydrolases superfamily. Adenosine and AMP deaminases family.
Family:
  • Belongs to the metallo-dependent hydrolases superfamily. Adenosine and AMP deaminases family.
genes like me logo Genes that share domains with ADAL: view

Function for ADAL Gene

Molecular function for ADAL Gene

UniProtKB/Swiss-Prot Function:
Putative nucleoside deaminase. May catalyze the hydrolytic deamination of adenosine or some similar substrate and play a role in purine metabolism (By similarity).

Enzyme Numbers (IUBMB) for ADAL Gene

Phenotypes From GWAS Catalog for ADAL Gene

Gene Ontology (GO) - Molecular Function for ADAL Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004000 adenosine deaminase activity IBA 21873635
GO:0016787 hydrolase activity IEA --
GO:0019239 deaminase activity IEA --
GO:0046872 metal ion binding IEA --
genes like me logo Genes that share ontologies with ADAL: view
genes like me logo Genes that share phenotypes with ADAL: view

Animal Models for ADAL Gene

MGI Knock Outs for ADAL:
  • Adal Adal<tm1a(EUCOMM)Wtsi>

Animal Model Products

  • Taconic Biosciences Mouse Models for ADAL

CRISPR Products

Clone Products

No data available for Human Phenotype Ontology , miRNA , Transcription Factor Targets and HOMER Transcription for ADAL Gene

Localization for ADAL 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 ADAL gene
Compartment Confidence
cytosol 4
cytoskeleton 2
nucleus 1
peroxisome 0

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for ADAL Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005829 cytosol TAS --
genes like me logo Genes that share ontologies with ADAL: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for ADAL Gene

Pathways & Interactions for ADAL Gene

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

Pathways by source for ADAL Gene

Gene Ontology (GO) - Biological Process for ADAL Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006154 adenosine catabolic process IBA 21873635
GO:0009117 nucleotide metabolic process IEA --
GO:0017144 drug metabolic process TAS --
GO:0043101 purine-containing compound salvage TAS --
GO:0046103 inosine biosynthetic process IBA 21873635
genes like me logo Genes that share ontologies with ADAL: view

No data available for SIGNOR curated interactions for ADAL Gene

Drugs & Compounds for ADAL Gene

(3) Drugs for ADAL Gene - From: ClinicalTrials

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Adalimumab Approved Pharma 569
Anti-Inflammatory Agents Pharma 13044
Antirheumatic Agents Pharma 12912
genes like me logo Genes that share compounds with ADAL: view

Transcripts for ADAL Gene

CRISPR Products

Clone Products

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

No ASD Table

Relevant External Links for ADAL Gene

GeneLoc Exon Structure for
ADAL
ECgene alternative splicing isoforms for
ADAL

Expression for ADAL Gene

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

Protein differential expression in normal tissues from HIPED for ADAL Gene

This gene is overexpressed in Gallbladder (19.9), Heart (13.6), Tlymphocyte (11.7), and Retina (10.0).

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



Protein tissue co-expression partners for ADAL Gene

NURSA nuclear receptor signaling pathways regulating expression of ADAL Gene:

ADAL

SOURCE GeneReport for Unigene cluster for ADAL Gene:

Hs.533913

Evidence on tissue expression from TISSUES for ADAL Gene

  • Nervous system(4.6)
genes like me logo Genes that share expression patterns with ADAL: 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 and Phenotype-based relationships between genes and organs from Gene ORGANizer for ADAL Gene

Orthologs for ADAL Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for ADAL Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia ADAL 33 32
  • 99.7 (n)
OneToOne
dog
(Canis familiaris)
Mammalia ADAL 33 32
  • 92.58 (n)
OneToOne
cow
(Bos Taurus)
Mammalia ADAL 33 32
  • 89.13 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Adal 17 33 32
  • 84.36 (n)
oppossum
(Monodelphis domestica)
Mammalia ADAL 33
  • 73 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia ADAL 33
  • 63 (a)
OneToOne
chicken
(Gallus gallus)
Aves ADAL 33 32
  • 74.39 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia ADAL 33
  • 59 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia adal 32
  • 68.72 (n)
Str.12484 32
zebrafish
(Danio rerio)
Actinopterygii adal 33 32
  • 62.94 (n)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP005158 32
  • 50.28 (n)
fruit fly
(Drosophila melanogaster)
Insecta Ada 33 32
  • 47.4 (n)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea C44B7.12 33 32
  • 46.49 (n)
OneToOne
thale cress
(Arabidopsis thaliana)
eudicotyledons AT4G04880 32
  • 50.33 (n)
rice
(Oryza sativa)
Liliopsida Os07g0661000 32
  • 51.54 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 33
  • 35 (a)
OneToOne
Species where no ortholog for ADAL was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • 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)
  • 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)
  • rainbow trout (Oncorhynchus mykiss)
  • rat (Rattus norvegicus)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • 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)

Evolution for ADAL Gene

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

Paralogs for ADAL Gene

Paralogs for ADAL Gene

Pseudogenes.org Pseudogenes for ADAL Gene

genes like me logo Genes that share paralogs with ADAL: view

Variants for ADAL Gene

Sequence variations from dbSNP and Humsavar for ADAL Gene

SNP ID Clin Chr 15 pos Variation AA Info Type
rs1000074569 -- 43,341,615(+) G/T intron_variant
rs1000136086 -- 43,341,024(+) CTCTCT/CTCT intron_variant
rs1000151571 -- 43,341,780(+) A/G intron_variant
rs1000218851 -- 43,352,299(+) G/A 3_prime_UTR_variant, downstream_transcript_variant, genic_downstream_transcript_variant
rs1000277097 -- 43,348,714(+) A/T intron_variant

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

Variant ID Type Subtype PubMed ID
nsv1512 CNV deletion 18451855

Variation tolerance for ADAL Gene

Residual Variation Intolerance Score: 56.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.53; 44.15% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for ADAL Gene

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

SNP Genotyping and Copy Number Assay Products

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

Disorders for ADAL Gene

MalaCards: The human disease database

(1) MalaCards diseases for ADAL Gene - From: DISEASES

Disorder Aliases PubMed IDs
autosomal dominant non-syndromic intellectual disability
  • autosomal dominant mental retardation
- elite association - COSMIC cancer census association via MalaCards
Search ADAL in MalaCards View complete list of genes associated with diseases

Additional Disease Information for ADAL

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

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

Publications for ADAL Gene

  1. Mutations in adenosine deaminase-like (ADAL) protein confer resistance to the antiproliferative agents N6-cyclopropyl-PMEDAP and GS-9219. (PMID: 23645737) Frey CR … Cihlar T (Anticancer research 2013) 2 3 56
  2. Phylogenetic analysis reveals a novel protein family closely related to adenosine deaminase. (PMID: 16245011) Maier SA … McDermid HE (Journal of molecular evolution 2005) 2 3 56
  3. Insights into RNA biology from an atlas of mammalian mRNA-binding proteins. (PMID: 22658674) Castello A … Hentze MW (Cell 2012) 3 56
  4. Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium. (PMID: 21873635) Gaudet P … Thomas PD (Briefings in bioinformatics 2011) 3 56
  5. 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. (PMID: 21755941) Murakami E … Furman PA (Journal of medicinal chemistry 2011) 3 56

Products for ADAL Gene

Sources for ADAL Gene