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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

ABP1 Gene

protein-coding   GIFtS: 62
GCID: GC07P150521

amiloride binding protein 1 (amine oxidase (copper-containing))

 Explore 67 diseases affiliated with
ABP1 via our new
 Human Malady Compendium 
Biological research products
for ABP1
    

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section

Aliases
Amiloride Binding Protein 1 (Amine Oxidase (Copper-Containing))1 2     EC 1.4.3.223 8
AOC11 2 3     Amiloride-Sensitive Amine Oxidase2
DAO1 2 3     Amiloride-Sensitive Amine Oxidase [Copper-Containing]2
Diamine Oxidase2 3     Histaminase3
Kidney Amine Oxidase2 3     Histaminase3
ABP2 3     Amiloride-Binding Protein3
DAO12 3     EC 1.4.38
KAO2 3     

External Ids:    HGNC: 801   Entrez Gene: 262   Ensembl: ENSG000000027267   OMIM: 1046105   UniProtKB: P198013   

Export aliases for ABP1 gene to outside databases

Previous GC identifers: GC07P148796 GC07P149864 GC07P149941 GC07P149987 GC07P150180 GC07P144361


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for ABP1:
This gene encodes a metal-binding membrane glycoprotein that oxidatively deaminates putrescine, histamine, and related
compounds. The encoded protein is inhibited by amiloride, a diuretic that acts by closing epithelial sodium ion
channels. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene.
(provided by RefSeq, Jan 2013)

UniProtKB/Swiss-Prot: ABP1_HUMAN, P19801
Function: Catalyzes the degradation of compounds such as putrescine, histamine, spermine, and spermidine, substances
involved in allergic and immune responses, cell proliferation, tissue differentiation, tumor formation, and possibly
apoptosis. Placental DAO is thought to play a role in the regulation of the female reproductive function




(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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000007.13  NC_018918.1  NT_007914.15  NT_079596.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the ABP1 gene promoter:
         AhR   RFX1   AP-1   ATF-2   Ik-3   Arnt   c-Ets-1   HOXA5   c-Jun   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 3): ABP1 promoter sequence
   Search SABiosciences Chromatin IP Primers for ABP1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat ABP1


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

Entrez Gene cytogenetic band: 7q36.1   Ensembl cytogenetic band:  7q36.1   HGNC cytogenetic band: 7q36.1

ABP1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
ABP1 gene location

GeneLoc information about chromosome 7         GeneLoc Exon Structure

GeneLoc location for GC07P150521:  view genomic region     (about GC identifiers)

Start:
150,521,715 bp from pter      End:
150,558,592 bp from pter
Size:
36,878 bases      Orientation:
plus strand

1 alternative location:
Chr7+,CRA_TCAG 149,878,859-149,887,665     

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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 Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: ABP1_HUMAN, P19801 (See protein sequence)
Recommended Name: Amiloride-sensitive amine oxidase [copper-containing] precursor  
Size: 751 amino acids; 85378 Da
Cofactor: Binds 1 copper ion per subunit
Cofactor: Binds 2 calcium ions per subunit
Cofactor: Contains 1 topaquinone per subunit
Subunit: Homodimer; disulfide-linked
Subcellular location: Secreted, extracellular space
Miscellaneous: Inhibited by amiloride in a competitive manner (By similarity)
Sequence caution: Sequence=AAA58358.1; Type=Frameshift; Positions=266, 284, 328, 494, 497, 514, 707, 729;
5 PDB 3D structures from and Proteopedia for ABP1:
3HI7 (3D)        3HIG (3D)        3HII (3D)        3K5T (3D)        3MPH (3D)    
Secondary accessions: Q16683 Q16684 Q56II4 Q6GU42
Alternative splicing: 2 isoforms:  P19801-1   P19801-2   

Explore the universe of human proteins at neXtProt for ABP1: NX_P19801

Post-translational modifications:

  • Topaquinone (TPQ) is generated by copper-dependent autoxidation of a specific tyrosyl residue1
  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_P19801

  • 4 DME Specific Peptides for ABP1 (P19801)
     NYDYIWD  DLVAWVT  GLELLVDH  TTSTVYNYDYIWDFIFY 

    ABP1 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins (2 alternative transcripts): 
    NP_001082.2  NP_001259001.1  

    ENSEMBL proteins: 
     ENSP00000418614   ENSP00000418328   ENSP00000418557   ENSP00000354193   ENSP00000411613  
     ENSP00000417392  

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    Uscn Proteins for ABP1

    Gene Ontology (GO): 4 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005615extracellular space IDA12072962
    GO:0005777peroxisome NAS1356107
    GO:0005886plasma membrane IDA2217167
    GO:0005923tight junction ISS--


    ABP1 for ontologies           About GeneDecksing



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    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    ABP1 for domains           About GeneDecksing

    5/6 InterPro domains/families (see all 6):
     IPR015800 Cu_amine_oxidase_N2
     IPR015802 Cu_amine_oxidase_N3
     IPR016182 Cu_amine_oxidase_N-reg
     IPR015801 Cu_amine_oxidase_N2/3
     IPR000269 Cu_amine_oxidase

    Graphical View of Domain Structure for InterPro Entry P19801

    ProtoNet protein and cluster: P19801

    1 Blocks protein family: IPB000269 Copper amine oxidase

    UniProtKB/Swiss-Prot: ABP1_HUMAN, P19801
    Similarity: Belongs to the copper/topaquinone oxidase family


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section

    Function Summary:

         UniProtKB/Swiss-Prot: ABP1_HUMAN, P19801
    Function: Catalyzes the degradation of compounds such as putrescine, histamine, spermine, and spermidine, substances
    involved in allergic and immune responses, cell proliferation, tissue differentiation, tumor formation, and possibly
    apoptosis. Placental DAO is thought to play a role in the regulation of the female reproductive function
    Catalytic activity: Histamine + H(2)O + O(2) = (imidazol-4-yl)acetaldehyde + NH(3) + H(2)O(2)

         Genatlas biochemistry entry for ABP1:
    amiloride binding protein 1,expressed in kidney

    Enzyme Numbers (IUBMB): EC 1.4.3.221 2 EC 1.4.32

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    Gene Ontology (GO): 5/16 molecular function terms (GO ID links to tree view) (see all 16):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004872receptor activity IDA2217167
    GO:0005261cation channel activity IDA19764817
    GO:0005272sodium channel activity TAS2217167
    GO:0005507copper ion binding IDA12072962
    GO:0005509calcium ion binding IDA12072962


    ABP1 for ontologies           About GeneDecksing


    5 GenomeRNAi human phenotypes for ABP1:
     Decreased NANOG protein expres  Decreased OCT4 protein express  Decreased POU5F1-GFP protein e  Decreased cell number 
     Increased gamma-H2AX phosphory 


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, 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 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways - 5/6 super-pathways (see all 6About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Beta-alanine metabolism
    Beta-alanine metabolism1.00
    Beta-alanine metabolism0.90
    2Tryptophan metabolism
    Tryptophan metabolism1.00
    Tryptophan metabolism0.47
    3Tyrosine metabolism
    Tyrosine metabolism p.1 (dopamine) 0.28
    Tyrosine metabolism p.1 (dopamine)0.28
    4histamine degradation
    histamine degradation1.00
    5Arginine and proline metabolism
    Arginine and proline metabolism1.00

    Pathway sources
    See GeneCards unified pathways
    Show all pathways

    2 EMD Millipore Pathways for ABP1
        Beta-alanine metabolism
    Tyrosine metabolism p.1 (dopamine)


    2 GeneGo (Thomson Reuters) Pathways for ABP1
        Tyrosine metabolism p.1 (dopamine)
    Beta-alanine metabolism

    2 BioSystems Pathways for ABP1 
        histamine degradation
    Tryptophan metabolism


    3         Kegg Pathways  (Kegg details for ABP1):
        Arginine and proline metabolism
    Histidine metabolism
    Tryptophan metabolism


    ABP1 for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for ABP1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 23)

    5/23 Interacting proteins for ABP1 (P198013 ENSP000003541934) via UniProtKB, MINT, STRING, and/or I2D (see all 23)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    DAOP149203, ENSP000002284764I2D: score=1 STRING: ENSP00000228476
    DNM2P505703, ENSP000003527214I2D: score=1 STRING: ENSP00000352721
    FGD1P981743, ENSP000003642774I2D: score=1 STRING: ENSP00000364277
    AGMATENSP000003649864STRING: ENSP00000364986
    DDCENSP000003506164STRING: ENSP00000350616
    About this table

    Gene Ontology (GO): 5/10 biological process terms (GO ID links to tree view) (see all 10):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0009308amine metabolic process IEA--
    GO:0035725sodium ion transmembrane transport TAS2217167
    GO:0035874cellular response to copper ion starvation IDA9399025
    GO:0042493response to drug IDA8144586
    GO:0046677response to antibiotic IDA19764817


    ABP1 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    ABP1 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
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    Browse Tocris compounds for ABP1

    10/26 HMDB Compounds for ABP1 (see all 26)    About this table
    CompoundSynonyms CAS #PubMed Ids
    1,3-Diaminopropane1,3-Diamino-n-propane (see all 8)109-76-2--
    2-Oxoargininea-keto-d-Guanidinovaleric acid (see all 10)3715-10-4--
    3,4-DihydroxyphenylacetaldehydeProtocatechuatealdehyde (see all 2)5707-55-1--
    3-Aminopropionaldehyde3-Aminopropanal (see all 3)352-92-1--
    4-Aminobutyraldehyde4-amino-butanal (see all 5)4390-05-0--
    5-Aminopentanal5-Amino-pentanal ----
    Aminoacetone1-Amino-2-propanone (see all 6)298-08-8--
    AmmoniaNH3 (see all 31)7664-41-7--
    CalciumCa (see all 2)7440-70-2--
    CopperCu (see all 2)7440-50-8--

    1 DrugBank Compound for ABP1    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    AmilorideAmilorida [INN-Spanish] (see all 6)2016-88-8enzymeinhibitor10850957 10938536

    10/48 Novoseek chemical compound relationships for ABP1 gene (see all 48)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    hydrazine 97.2 426 8645981 (7), 9831324 (7), 2115243 (6), 2121582 (6) (see all 99)
    histamine 79.6 199 18499706 (5), 11603849 (5), 8645981 (4), 17490952 (4) (see all 69)
    putrescine 78.7 27 2124566 (3), 7741045 (2), 9661267 (1), 1417947 (1) (see all 18)
    tele-methylimidazoleacetic acid 77.7 1 8195119 (1)
    cadaverine 75.5 11 19627092 (3), 1417947 (1), 1458548 (1), 17826755 (1) (see all 7)
    spermidine 68.2 12 8348850 (2), 9661267 (1), 2124566 (1), 7882298 (1) (see all 7)
    tele-methylhistamine 67.4 1 17142964 (1)
    spermine 66.9 12 8348850 (2), 9661267 (1), 2124566 (1), 12927050 (1) (see all 8)
    auxin 65.2 61 19777056 (6), 7592943 (5), 17766341 (5), 19669789 (4) (see all 14)
    amine 63.9 21 17142964 (2), 7931266 (1), 8917118 (1), 9405445 (1) (see all 15)

    Search CenterWatch for drugs/clinical trials and news about ABP1 

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for ABP1 gene (2 alternative transcripts): 
    NM_001091.3  NM_001272072.1  

    Unigene Cluster for ABP1:

    Amiloride binding protein 1 (amine oxidase (copper-containing))
    Hs.647097  [show with all ESTs]
    Unigene Representative Sequence: BX648159
    7 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000493429 ENST00000467291(uc003why.1) ENST00000460213 ENST00000360937(uc003whz.1)
    ENST00000416793(uc003wia.1) ENST00000483043 ENST00000480582

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    Additional cDNA sequence: 

    AK092514.1 AK296638.1 AK307278.1 AK314806.1 BC014093.2 BX648159.1 M55602.1 U11862.1 
    U11863.1 

    24/30 DOTS entries (see all 30):

    DT.100851526  DT.216235  DT.95276223  DT.100866765  DT.100863416  DT.95244222  DT.100653341  DT.100868947 
    DT.95276220  DT.100859438  DT.95276218  DT.100023520  DT.97844407  DT.100640575  DT.100848633  DT.95276231 
    DT.99937658  DT.100866194  DT.100867969  DT.121114759  DT.92447664  DT.100839669  DT.100852174  DT.100853340 

    24/392 AceView cDNA sequences (see all 392):

    BG572800 CR615931 CR617395 AA035423 AA078659 BX397138 CR625394 CR598361 
    AU135756 CR602032 CR621626 AI984156 AA368561 AA604046 CR608165 AA368783 
    BQ022264 CR610042 CR592378 CR596790 CR601090 CR618888 AU156260 AU157284 

    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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    ABP1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: GCCGACCAGG

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)

    About this image
    See ABP1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for ABP1

    SOURCE GeneReport for Unigene cluster: Hs.647097

    UniProtKB/Swiss-Prot: ABP1_HUMAN, P19801
    Tissue specificity: Placenta and kidney

        SABiosciences Expression via Pathway-Focused PCR Arrays including ABP1: 
              Amino Acid Metabolism II in human mouse rat
              Amino Acid Metabolism I in human mouse rat
              Drug Metabolism in human mouse rat

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    In Situ
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ABP1

    (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)
    About This Section

    This gene was present in the last universal common ancestor (LUCA).

    Orthologs for ABP1 gene from 6/18 species (see all 18)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    chicken
    (Gallus gallus)
    Aves LOC1008581591 amiloride-sensitive amine oxidase [copper-containing]-like 62.9(n)
    53.87(a)
      100858159  XM_003640667.1  XP_003640715.1 
    lizard
    (Anolis carolinensis)
    Reptilia ABP16
    --
    58(a)
    1 ↔ 1
    GL343807.1(221596-229763)
    zebrafish
    (Danio rerio)
    Actinopterygii wufd55c042 Transcribed sequence with weak similarity to protein more 71.77(n)    CK127621.1 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons AT4G122806
    ATAO16
    (see all 10)
    amine oxidase 1
    (see all 10)
    26(a)
    22(a)
    (see all 10)
    many ↔ many
    many ↔ many
    (see all 10)
    4(7301769-7302994)
    4(8541879-8544566)
    rice
    (Oryza sativa)
    Liliopsida --
    --
    (see all 6)
    amine oxidase precursor, putative, expressed
    copper methylamine oxidase precursor, putative, ex...
    (see all 6)
    25(a)
    19(a)
    (see all 6)
    many ↔ many
    many ↔ many
    (see all 6)
    4(11227167-11234756)
    6(13475488-13484210)
    E. coli
    (Escherichia coli)
    Gamma proteobacteria tynA6
    tyramine oxidase, copper-requiring
    18(a)
    1 → many
    Chromosome(1447100-1449373)


    ENSEMBL Gene Tree for ABP1 (if available)
    TreeFam Gene Tree for ABP1 (if available) 

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for ABP1 gene
    AOC22  AOC32  
    2 SIMAP similar genes for ABP1 using alignment to 6 protein entries:     ABP1_HUMAN (see all proteins):
    AOC2    AOC3

    ABP1 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, 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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/260 NCBI SNPs in ABP1 are shown (see all 260    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 7 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1838901741,2
    --150547592(+) GAGTCG/TTCTCC 1 -- us2k10--------
    rs1883518781,2
    --150547663(+) CATAGA/GCTTTC 1 -- us2k10--------
    rs1493853511,2
    --150547722(+) AACAAC/TGTTAA 1 -- us2k10--------
    rs455974331,2
    C,--150547747(+) AGCCAG/AACAGT 1 -- us2k15Minor allele frequency- A:0.00NS 190
    rs354114921,2
    C,F,--150547769(+) GCTGCG/ATCATC 1 -- us2k19Minor allele frequency- A:0.02NS NA 316
    rs23738761,2
    C,F,A,H,--150547968(+) TCGTGA/GGGGGA 1 -- us2k114Minor allele frequency- G:0.29EA NS NA WA 826
    rs1811812111,2
    --150548034(+) GAATTA/GGAAGA 1 -- us2k10--------
    rs1486685481,2
    --150548157(+) AAAGTA/CTTTTA 1 -- us2k10--------
    rs455636331,2
    F--150548187(+) TTTTTT/-CTTTG 1 -- us2k15Minor allele frequency- -:0.01NS 188
    rs1433333281,2
    --150548259(+) TTACTC/TCTATG 1 -- us2k10--------

    HapMap Linkage Disequilibrium report for ABP1 (150521715 - 150558592 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 2 variations for ABP1
         2 CNVs: 3711 7616
    Human Gene Mutation Database (HGMD): ABP1

    SABiosciences Cancer Mutation PCR Assays
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

    ABP1 for disorders           About GeneDecksing

    OMIM gene information: 104610    OMIM disorders: --

    20/67 diseases for ABP1 (see all 67):    About MalaCards
    deep vein thrombosis    autonomic neuropathy    short bowel syndrome    vernal keratoconjunctivitis
    diabetic autonomic neuropathy    food allergy    cervical intraepithelial neoplasia    type 1 diabetes mellitus
    small intestine lymphoma    phlyctenulosis    ureteral obstruction    urticaria
    thyroid medullary carcinoma    cystic fibrosis    keratoconjunctivitis    allergic rhinitis
    portal hypertension    diabetes mellitus    inflammatory bowel disease    proctitis

    1 disease from the University of Copenhagen DISEASES database for ABP1:
    Thyroid medullary carcinoma

    10/30 Novoseek disease relationships for ABP1 gene (see all 30)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    multiple organ failure 39.1 1 17038253 (1)
    nasal polyps 33.2 3 8448680 (2)
    intestinal ischemia 30.8 1 14621695 (1)
    urticaria 29.9 8 2115815 (3), 2115814 (1), 17490952 (1)
    allergy food 27.8 2 9928400 (1), 15054605 (1)
    bowel disease 22.7 5 1935496 (3), 2110916 (1), 9399025 (1)
    allergy 22.2 1 17651147 (1)
    short bowel syndrome 22.2 1 2124566 (1)
    bladder carcinoma 20.7 1 8340919 (1)
    allergic reaction 7.77 4 8823580 (2), 1886031 (1), 17490952 (1)

    Human Genome Epidemiology (HuGE) Navigator: ABP1 (6 documents)

    Export disorders for ABP1 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)
    About This Section

    PubMed articles for ABP1 gene, integrated from 9 sources (see all 258):
    (articles sorted by number of sources associating them with ABP1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. The human gene for diamine oxidase, an amiloride binding protein. Molecular cloning, sequencing, and characterization of the promoter. (PubMed id 8182053)1, 2, 3, 9 Chassande O.... Lazdunski M. (1994)
    2. Diamine oxidase is the amiloride-binding protein and is inhibited by amiloride analogues. (PubMed id 8144586)1, 2, 9 Novotny W.F.... Barbry P. (1994)
    3. Structure and inhibition of human diamine oxidase. (PubMed id 19764817)1, 2, 9 McGrath A.P....Guss J.M. (2009)
    4. Human kidney amiloride-binding protein: cDNA structure and functional expression. (PubMed id 2217167)1, 2, 9 Barbry P....Lazdunski M. (1990)
    5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
    6. cDNA sequences of variant forms of human placenta diamine oxidase. (PubMed id 8595053)1, 2 Zhang X.... McIntire W.S. (1995)
    7. An environmentally regulated receptor for diamine oxidase modulates human endothelial cell/fibroblast histamine degradative uptake. (PubMed id 8195119)1, 9 Baenziger N.L....Haddock R.C. (1994)
    8. Soluble intercellular adhesion molecule-1, D-lactate and diamine oxidase in patients with inflammatory bowel disease. (PubMed id 19701972)1, 9 Song W.B....Ma L. (2009)
    9. Genetic variability of human diamine oxidase: occurrence of three nonsynonymous polymorphisms and study of their effect on serum enzyme activity. (PubMed id 17700358)1, 9 Ayuso P....Agundez J.A. (2007)
    10. Plasma diamine oxidase activities in renal dialysis patients, a human with spontaneous copper deficiency and marginally copper deficient rats. (PubMed id 9399025)1, 9 DiSilvestro R.A....Wildman R. (1997)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    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)
    About This Section
    Entrez Gene: 26 HGNC: 80 AceView: ABP1 Ensembl:ENSG00000002726 euGenes: HUgn26
    ECgene: ABP1 Kegg: 26 H-InvDB: ABP1

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for ABP1 Pharmacogenomics, SNPs, Pathways
    NIEHS-SNPshttp://egp.gs.washington.edu/data/abp1/

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for ABP1 gene:
    Search GeneIP for patents involving ABP1

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



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