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ADAL Gene

protein-coding   GIFtS: 44
GCID: GC15P043622

Adenosine Deaminase-Like

  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Adenosine Deaminase-Like1 2
Adenosine Deaminase-Like Protein2
EC 3.5.4.-3
EC 3.5.48

External Ids:    HGNC: 318531   Entrez Gene: 1618232   Ensembl: ENSG000001688037   UniProtKB: Q6DHV73   

Export aliases for ADAL gene to outside databases

Previous GC identifers: GC15P041416 GC15P020471


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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GeneCards Summary for ADAL Gene:
ADAL (adenosine deaminase-like) is a protein-coding gene. Diseases associated with ADAL include hyperopia, and epididymitis. GO annotations related to this gene include adenosine deaminase activity.

UniProtKB/Swiss-Prot: ADAL_HUMAN, Q6DHV7
Function: Putative nucleoside deaminase. May catalyze the hydrolytic deamination of adenosine or some similar
substrate and play a role in purine metabolism (By similarity)




(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000015.10  NT_010194.18  NC_018926.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the ADAL gene promoter:
         TBP   HTF   POU3F2   Evi-1   NF-AT   CHOP-10   NF-AT4   NF-AT2   NF-AT3   NF-AT1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidADAL promoter sequence
   Search Chromatin IP Primers for ADAL

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat ADAL


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 15q15.3   Ensembl cytogenetic band:  15q15.3   HGNC cytogenetic band: 15q15.3

ADAL Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
ADAL gene location

GeneLoc information about chromosome 15         GeneLoc Exon Structure

GeneLoc location for GC15P043622:  view genomic region     (about GC identifiers)

Start:
43,622,872 bp from pter      End:
43,646,096 bp from pter
Size:
23,225 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: ADAL_HUMAN, Q6DHV7 (See protein sequence)
Recommended Name: Adenosine deaminase-like protein  
Size: 355 amino acids; 40264 Da
Cofactor: Binds 1 zinc ion per subunit (By similarity)
Secondary accessions: A6NHZ3 B4DQM8
Alternative splicing: 3 isoforms:  Q6DHV7-1   Q6DHV7-2   Q6DHV7-3   

Explore the universe of human proteins at neXtProt for ADAL: NX_Q6DHV7

Explore proteomics data for ADAL at MOPED

Selected DME Specific Peptides for ADAL (Q6DHV7) (see all 5)
 HHFGFWY  PKVELHAHL  PDRIGHGTFL  VTKDVIKEFA 


See ADAL Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

REFSEQ proteins (2 alternative transcripts): 
NP_001012987.1  NP_001152752.1  

ENSEMBL proteins: 
 ENSP00000413074   ENSP00000374302   ENSP00000455907   ENSP00000456242   ENSP00000457591  
 ENSP00000398744  
Reactome Protein details: Q6DHV7

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(According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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1 InterPro protein domain:
 IPR001365 A/AMP_deaminase_dom

Graphical View of Domain Structure for InterPro Entry Q6DHV7

ProtoNet protein and cluster: Q6DHV7

UniProtKB/Swiss-Prot: ADAL_HUMAN, Q6DHV7
Similarity: Belongs to the adenosine and AMP deaminases family


ADAL for domains           About GeneDecksing


(According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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Molecular Function:

     UniProtKB/Swiss-Prot Summary: ADAL_HUMAN, Q6DHV7
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): EC 3.5.42 EC 3.5.4.-1

     Gene Ontology (GO): 3 molecular function terms:    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0004000adenosine deaminase activity IBA--
GO:0019239deaminase activity ----
GO:0046872metal ion binding IEA--
     
ADAL for ontologies           About GeneDecksing


Animal Models:
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3 qRT-PCR Assays for microRNAs that regulate ADAL:
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SwitchGear 3'UTR luciferase reporter plasmidADAL 3' UTR sequence
Inhib. RNA
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Predesigned siRNA for gene silencing in human, mouse, rat ADAL

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(According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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Subcellular locations from COMPARTMENTS: 

CompartmentConfidence
cytosol4
nucleus2
peroxisome1

Gene Ontology (GO): 1 cellular component term:    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0005829cytosol TAS--

ADAL for ontologies           About GeneDecksing


(SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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SuperPaths for ADAL About    
See pathways by source

SuperPathContained pathways About
1Purine metabolism (REACTOME)
Purine metabolism0.42
Purine salvage0.00
Metabolism of nucleotides0.42
2Abacavir transport and metabolism
Abacavir transport and metabolism
Abacavir metabolism0.00
3Metabolism
Metabolism0.38

Pathways by source                                                                                                                                                                 See SuperPaths
Show all pathways


2 Reactome Pathways for ADAL
    Purine salvage
Abacavir metabolism



ADAL for pathways           About GeneDecksing

    Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for ADAL
Interactions:

    Search GeneGlobe Interaction Network for ADAL

Gene Ontology (GO): Selected biological process terms (see all 10):    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0006144purine nucleobase metabolic process TAS--
GO:0006154adenosine catabolic process IBA--
GO:0009117nucleotide metabolic process IEA--
GO:0009168purine ribonucleoside monophosphate biosynthetic process ----
GO:0017144drug metabolic process TAS--

ADAL for ontologies           About GeneDecksing



(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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Browse Small Molecules at EMD Millipore
   Browse drugs & compounds from Enzo Life Sciences
  Browse compounds at ApexBio 

Browse Tocris compounds for ADAL



(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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REFSEQ mRNAs for ADAL gene (2 alternative transcripts): 
NM_001012969.3  NM_001159280.2  

Unigene Cluster for ADAL:

Adenosine deaminase-like
Hs.533913  [show with all ESTs]
Unigene Representative Sequence: NM_001159280
7 Ensembl transcripts including schematic representations, and UCSC links where relevant:
ENST00000428046(uc010udo.2) ENST00000389651(uc001zrh.3) ENST00000565555
ENST00000563551 ENST00000562188 ENST00000566154 ENST00000422466(uc001zri.2)

miRNA
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3 qRT-PCR Assays for microRNAs that regulate ADAL:
hsa-miR-576-5p hsa-miR-3920 hsa-miR-29a*
SwitchGear 3'UTR luciferase reporter plasmidADAL 3' UTR sequence
Inhib. RNA
Products:
     
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Predesigned siRNA for gene silencing in human, mouse, rat ADAL
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Primer
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  QuantiFast Probe-based Assays in human, mouse, rat ADAL

Additional mRNA sequence: 

AK126583.1 AK298870.1 BC075857.1 

11 DOTS entries:

DT.412202  DT.99983998  DT.99997537  DT.100683462  DT.121034813  DT.92417578  DT.100693900  DT.432612 
DT.121034795  DT.95155463  DT.100705722 

Selected AceView cDNA sequences (see all 94):

BX108368 BQ011595 BI789209 AA293034 BU737982 AA044810 CK903308 AI080123 
BI962698 BX108001 AA227487 AA284726 BQ188219 CK903307 BQ447767 BQ012134 
BC075857 AI123939 AA284902 AA293426 BM700326 AI420327 CF529844 AI654975 

GeneLoc Exon Structure


(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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ADAL expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS <intensity>2/3
CGAP TAG: GAAAATCCCA
ADAL Expression
About this image

ADAL Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

ADAL Protein Expression

SOURCE GeneReport for Unigene cluster: Hs.533913
    Custom PCR Arrays for ADAL
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QuantiFast Probe-based Assays in human, mouse, rat ADAL
In Situ
Assay Products:
 

 
Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ADAL

(Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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This gene was present in the common ancestor of eukaryotes.

Orthologs for ADAL gene from Selected species (see all 16)    About this table
Organism Taxonomic
classification
Gene Description Human
Similarity
Orthology
Type
Details
mouse
(Mus musculus)
Mammalia Adal1 , 5 adenosine deaminase-like1, 5 84.36(n)1
83.44(a)1
  2 (60.37 cM)5
758941  NM_029475.11  NP_083751.11 
 1211404285 
chicken
(Gallus gallus)
Aves ADAL1 adenosine deaminase-like 74.39(n)
74.13(a)
  415391  NM_001030547.1  NP_001025718.1 
lizard
(Anolis carolinensis)
Reptilia ADAL6
adenosine deaminase-like
59(a)
1 ↔ 1
GL343644.1(421-5565)
tropical clawed frog
(Xenopus tropicalis)
Amphibia Str.124842 Transcribed sequence with weak similarity to protein more 72.72(n)    BX713295.1 
zebrafish
(Danio rerio)
Actinopterygii adal1 adenosine deaminase-like 62.94(n)
63.9(a)
  619263  NM_001033744.1  NP_001028916.1 
fruit fly
(Drosophila melanogaster)
Insecta Ada1 Adenosine deaminase 47.4(n)
42.2(a)
  41092  NM_141609.3  NP_649866.1 
worm
(Caenorhabditis elegans)
Secernentea C44B7.121 C44B7.12 46.49(n)
34.54(a)
  259441  NM_182155.4  NP_871955.2 
thale cress
(Arabidopsis thaliana)
eudicotyledons AT4G048801 AT4G04880 50.33(n)
41.67(a)
  825826  NM_116726.3  NP_192397.2 
rice
(Oryza sativa)
Liliopsida Os07g06610001 Os07g0661000 51.54(n)
41.45(a)
  4344179  NM_001067069.1  NP_001060534.1 


ENSEMBL Gene Tree for ADAL (if available)
TreeFam Gene Tree for ADAL (if available)

(Paralogs according to 1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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Paralogs for ADAL gene

ADAL for paralogs           About GeneDecksing


1 Pseudogenes.org Pseudogene for ADAL
PGOHUM00000242472


(SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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Selected SNPs for ADAL (see all 426)    About this table    
Genomic DataTranscription Related DataAllele Frequencies
SNP IDValidClinical
significance
Chr 15 posSequence#AA
Chg
TypeMore#Allele
freq
PopTotal
sample
More
----------
rs1920909721,2
--43625024(+) CTGCTC/TTAATA 2 -- int10--------
rs1391553361,2
--43625068(+) AGTGTG/TTGTTG 2 -- int10--------
rs1424469831,2
--43625074(+) TGTTGC/GCTTCC 2 -- int10--------
rs1831335801,2
--43625080(+) CTTCCA/GTCCCA 2 -- int10--------
rs787618241,2
C--43625218(+) CCATAG/TGTTAA 2 -- int10--------
rs1871420921,2
--43625342(+) TGGCCA/GGGCGC 2 -- int10--------
rs790994261,2
C--43625345(+) CCGGGC/TGCAGT 2 -- int10--------
rs1133505361,2
C--43625346(+) CGGGCG/TCAGTG 2 -- int11Minor allele frequency- T:0.50WA 2
rs1394523441,2
C--43625356(+) GGCTCA/GCTCCT 2 -- int10--------
rs11239471,2
C,F--43625433(+) TGAGAT/CCCCGT 2 -- int16Minor allele frequency- C:0.43NA WA CSA EA 132

HapMap Linkage Disequilibrium report for ADAL (43622872 - 43646096 bp)

Structural Variations
     Database of Genomic Variants (DGV) 1 variation for ADAL:    About this table    
Variant IDTypeSubtypePubMed ID
nsv1512CNV Loss18451855

Site Specific Mutation Identification with PCR Assays
SeqTarget long-range PCR primers for resequencing ADAL
DNA2.0 Custom Variant and Variant Library Synthesis for ADAL

(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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4 diseases for ADAL:    
About MalaCards
hyperopia    epididymitis    tuberculosis    malaria

1 disease from the University of Copenhagen DISEASES database for ADAL:
Epididymitis

ADAL for disorders           About GeneDecksing


Export disorders for ADAL gene to outside databases

(in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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PubMed articles for ADAL gene integrated from 10 sources:
(articles sorted by number of sources associating them with ADAL)
    Utopia: connect your pdf to the dynamic
world of online information

  1. Mutations in adenosine deaminase-like (ADAL) protein confer resistance to the antiproliferative agents N6-cyclopropyl-PMEDAP and GS-9219. (PubMed id 23645737)1 Frey C.R....Cihlar T. (Anticancer Res. 2013)
  2. 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. (PubMed id 21755941)1 Murakami E....Furman P.A. (J. Med. Chem. 2011)
  3. Analysis of the DNA sequence and duplication history of human chromosome 15. (PubMed id 16572171)2 Zody M.C....Nusbaum C. (Nature 2006)
  4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)2 Gerhard D.S.... Malek J. (Genome Res. 2004)
  5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)2 Ota T.... Sugano S. (Nat. Genet. 2004)
  6. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1 Strausberg R.L....Marra M.A. (Proc. Natl. Acad. Sci. U.S.A. 2002)

(in PubMed, OMIM, and NCBI Bookshelf)
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 ANDOR
Aliases
Free Text  

  Query String
PubMed
OMIM
NCBI Bookshelf
  (Note: In FireFox, select the above section and copy using Ctrl-C)

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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Entrez Gene: 161823 HGNC: 31853 AceView: LOC161823 Ensembl:ENSG00000168803 euGenes: HUgn161823
ECgene: ADAL H-InvDB: ADAL

(According to HUGE)
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  --

(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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NameDescription
PharmGKB entry for ADAL Pharmacogenomics, SNPs, Pathways

(Patent information from GeneIP,
Licensable technologies from WIS Yeda, Salk, Tufts,
IP news from LifeMap Sciences, Inc.)
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Patent Information for ADAL gene:
Search GeneIP for patents involving ADAL

GeneCards and IP:
Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, and ESI BIO, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
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 Protein Production Services
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 Search www.enzolifesciences.com for proteins, assays, substrates, inhibitors & antibodies

 Novus Tissue Slides
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 Browse ESI BIO Cell Lines and PureStem Progenitors for ADAL
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 Search ThermoFisher Antibodies for ADAL
 Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat ADAL
 inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for ADAL
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GeneCards Homepage - Last full update: 7 May 2014 - Incrementals: 9 May 2014 , 2 Jun 2014 , 26 Jun 2014 , 30 Jun 2014

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