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

ASB1 Gene

protein-coding   GIFtS: 54
GCID: GC02P239352

ankyrin repeat and SOCS box containing 1

(Previous name: ankyrin repeat and SOCS box-containing 1 )
 Explore 2 diseases affiliated with
ASB1 via our new
 Human Malady Compendium 
Biological research products
for ASB1
    

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

Aliases
Ankyrin Repeat And SOCS Box Containing 11 2
ASB-11 2 3
Ankyrin Repeat And SOCS Box-Containing 11 2
Ankyrin Repeat And SOCS Box Protein 12
KIAA11463

External Ids:    HGNC: 160111   Entrez Gene: 516652   Ensembl: ENSG000000658027   OMIM: 6057585   UniProtKB: Q9Y5763   

Export aliases for ASB1 gene to outside databases

Previous GC identifers: GC02P237384 GC02P238017 GC02P239622 GC02P239117 GC02P239000 GC02P231126


(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 ASB1:
The protein encoded by this gene is a member of the ankyrin repeat and SOCS box-containing (ASB) family of proteins.
They contain ankyrin repeat sequence and SOCS box domain. The SOCS box serves to couple suppressor of cytokine
signalling (SOCS) proteins and their binding partners with the elongin B and C complex, possibly targeting them for
degradation. (provided by RefSeq, Jul 2008)

UniProtKB/Swiss-Prot: ASB1_HUMAN, Q9Y576
Function: May play a role in testis development (By similarity). Probable substrate-recognition component of a SCF-like
ECS (Elongin-Cullin-SOCS-box protein) E3 ligase complex which mediates the ubiquitination and subsequent proteasomal
degradation of target proteins

Gene Wiki entry for ASB1


(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_000002.11  NC_018913.1  NT_005120.16  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the ASB1 gene promoter:
         HOXA9B   HOXA9   MEF-2   LUN-1   MEF-2A   NRF-2   aMEF-2   Meis-1a   Meis-1   
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search SABiosciences Chromatin IP Primers for ASB1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat ASB1


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

Entrez Gene cytogenetic band: 2q37   Ensembl cytogenetic band:  2q37.3   HGNC cytogenetic band: 2q37

ASB1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
ASB1 gene location

GeneLoc information about chromosome 2         GeneLoc Exon Structure

GeneLoc location for GC02P239352:  view genomic region     (about GC identifiers)

Start:
239,335,383 bp from pter      End:
239,360,891 bp from pter
Size:
25,509 bases      Orientation:
plus strand

(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: ASB1_HUMAN, Q9Y576 (See protein sequence)
Recommended Name: Ankyrin repeat and SOCS box protein 1  
Size: 335 amino acids; 37014 Da
Subunit: Interacts with CUL5 and RNF7
Secondary accessions: A6NL50 Q4ZG29 Q9ULS4

Explore the universe of human proteins at neXtProt for ASB1: NX_Q9Y576

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q9Y576

  • ASB1 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_001035535.1  
    ENSEMBL proteins: 
     ENSP00000264607   ENSP00000387025   ENSP00000411773  
    Reactome Protein details: Q9Y576
    Human Recombinant Protein Products: 
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    Uscn Proteins for ASB1

    Gene Ontology (GO): 1 cellular component term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005622intracellular IC11111040


    ASB1 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

    ASB1 for domains           About GeneDecksing

    3 InterPro domains/families:
     IPR001496 SOCS_C
     IPR020683 Ankyrin_rpt-contain_dom
     IPR002110 Ankyrin_rpt

    Graphical View of Domain Structure for InterPro Entry Q9Y576

    ProtoNet protein and cluster: Q9Y576

    2 Blocks protein families:
    IPB001496 SOCS protein
    IPB002110 Ankyrin repeat signature


    UniProtKB/Swiss-Prot: ASB1_HUMAN, Q9Y576
    Domain: The SOCS box domain mediates the interaction with the Elongin BC complex, an adapter module in different E3
    ubiquitin-protein ligase complexes (By similarity)
    Similarity: Contains 6 ANK repeats
    Similarity: Contains 1 SOCS box domain


    (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: ASB1_HUMAN, Q9Y576
    Function: May play a role in testis development (By similarity). Probable substrate-recognition component of a SCF-like
    ECS (Elongin-Cullin-SOCS-box protein) E3 ligase complex which mediates the ubiquitination and subsequent proteasomal
    degradation of target proteins

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    hsa-miR-302d hsa-miR-520e hsa-miR-449a hsa-miR-124 hsa-miR-372 hsa-miR-133a hsa-miR-3622b-3p hsa-miR-506
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    Gene Ontology (GO): 1 molecular function term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003674molecular_function ND--


    ASB1 for ontologies           About GeneDecksing


    Animal Models:
         5 MGI mutant phenotypes (inferred from 1 allele(MGI details for Asb1):
     endocrine/exocrine gland  hematopoietic system  immune system  integument  reproductive system 

    ASB1 for phenotypes           About GeneDecksing


    (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  About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Antigen processing: Ubiquitination & Proteasome degradation
    Antigen processing: Ubiquitination & Proteasome degradation1.00
    Polyubiquitination of substrate0.75
    Class I MHC mediated antigen processing & presentation0.83
    2Immune System
    Immune System1.00
    Adaptive Immune System0.59

    Pathway sources
    See GeneCards unified pathways
    Show all pathways


    5        Reactome Pathways for ASB1
        Antigen processing: Ubiquitination & Proteasome degradation
    Polyubiquitination of substrate
    Adaptive Immune System
    Class I MHC mediated antigen processing & presentation
    Immune System


    UniProtKB/Swiss-Prot: ASB1_HUMAN, Q9Y576
    Pathway: Protein modification; protein ubiquitination


    ASB1 for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for ASB1

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

    5/8 Interacting proteins for ASB1 (Q9Y5762, 3 ENSP000002646074) via UniProtKB, MINT, STRING, and/or I2D (see all 8)

    InteractantInteraction Details
    GeneCardExternal ID(s)
    RNF7Q9UBF62, 3, ENSP000002734804MINT-77973 I2D: score=2 STRING: ENSP00000273480
    CUL5Q930342, 3MINT-77970 I2D: score=2 
    HOXB8P174813I2D: score=1 
    NFE2Q166213I2D: score=1 
    TCEB1ENSP000002848114STRING: ENSP00000284811
    About this table

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0016567protein ubiquitination IEA--
    GO:0030539male genitalia development IEA--
    GO:0035556intracellular signal transduction IEA--
    GO:0042036negative regulation of cytokine biosynthetic process NAS11111040


    ASB1 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
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for ASB1
    Search CenterWatch for drugs/clinical trials and news about ASB1 

    (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,
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    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 ASB1 gene (2 alternative transcripts): 
    NM_001040445.1  NM_016114.3  

    Unigene Cluster for ASB1:

    Ankyrin repeat and SOCS box containing 1
    Hs.516788  [show with all ESTs]
    Unigene Representative Sequence: NM_001040445
    9 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000463352 ENST00000264607(uc002vyg.3) ENST00000469885 ENST00000409297
    ENST00000438264 ENST00000491653 ENST00000468122 ENST00000481566 ENST00000473306


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    hsa-miR-302d hsa-miR-520e hsa-miR-449a hsa-miR-124 hsa-miR-372 hsa-miR-133a hsa-miR-3622b-3p hsa-miR-506
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    Additional cDNA sequence: 

    AB032972.1 AF055024.1 AF156777.1 BC014528.2 

    8 DOTS entries:

    DT.214034  DT.100773228  DT.97843478  DT.100655690  DT.91885773  DT.91923561  DT.95190734  DT.95276619 

    10 AceView cDNA sequences:

    CB160560 AI123314 CD627531 AF055024 AA257088 BF952946 BE708556 BF058392 
    AA257118 BG984443 

    GeneLoc Exon Structure

    5/6 Alternative Splicing Database (ASD) splice patterns (SP) for ASB1 (see all 6)    About this scheme

    ExUns: 1 ^ 2a · 2b · 2c ^ 3 ^ 4 ^ 5a · 5b ^ 6a · 6b · 6c · 6d · 6e · 6f ^ 7
    SP1:                          -                                                               
    SP2:        -     -     -     -                                                               
    SP3:                          -                                                               
    SP4:                          -                 -                                             
    SP5:                                                                                          


    ECgene alternative splicing isoforms for ASB1

    (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

    ASB1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: CATCCATCTG

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

    About this image
    See ASB1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for ASB1

    SOURCE GeneReport for Unigene cluster: Hs.516788
        SABiosciences Expression via Pathway-Focused PCR Array including ASB1: 
              Ubiquitin Ligases in human mouse rat

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    In Situ
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    (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 common ancestor of animals.

    Orthologs for ASB1 gene from 4/13 species (see all 13)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    chicken
    (Gallus gallus)
    Aves ASB11 ankyrin repeat and SOCS box containing 1 75.46(n)
    82.21(a)
      424030  XM_421885.2  XP_421885.2 
    lizard
    (Anolis carolinensis)
    Reptilia ASB16
    --
    79(a)
    1 ↔ 1
    1(118743497-118754300)
    zebrafish
    (Danio rerio)
    Actinopterygii asb11 ankyrin repeat and SOCS box-containing 1 63.77(n)
    60.87(a)
      554673  NM_001002736.1  NP_001002736.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG91216
    --
    10(a)
    1 → many
    2L(5047818-5050975)


    ENSEMBL Gene Tree for ASB1 (if available)
    TreeFam Gene Tree for ASB1 (if available) 

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for ASB1 gene
    ASB122  ASB132  ASB112  ASB52  ASB92  ASB72  
    2 SIMAP similar genes for ASB1 using alignment to 3 protein entries:     ASB1_HUMAN (see all proteins):
    ASB12    MTMR8

    ASB1 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

    10/473 NCBI SNPs in ASB1 are shown (see all 473    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 2 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1472585321,2
    --239333729(+) TCTTCC/TAAGAG 1 -- us2k10--------
    rs1148330351,2
    F,--239333806(+) CAGGGA/TCTCAA 1 -- us2k11Minor allele frequency- T:0.08WA 118
    rs1487152541,2
    --239334093(+) TTCACA/GTTGCT 1 -- us2k10--------
    rs730909751,2
    C,--239334438(+) CGGCAC/TTTCGT 1 -- us2k11Minor allele frequency- T:0.50WA 2
    rs1874054301,2
    --239334584(+) CATCGA/GAGTCA 1 -- us2k10--------
    rs1921933521,2
    --239334609(+) CAGTGA/GTGCTC 1 -- us2k10--------
    rs1839861611,2
    --239334680(+) CCACAA/GGGCCT 1 -- us2k10--------
    rs5795111,2
    C,F,A,--239334914(-) AGTTAG/CACAGC 1 -- us2k19Minor allele frequency- C:0.33EA NA WA 1844
    rs730909781,2
    C,--239334935(+) GAATGG/AGAGGA 1 -- us2k11Minor allele frequency- A:0.50WA 2
    rs563964481,2
    C,--239335234(+) CTGCTC/TGTGGC 1 -- us2k13Minor allele frequency- T:0.10NA EA 242

    HapMap Linkage Disequilibrium report for ASB1 (239335383 - 239360891 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for ASB1: --
    Human Gene Mutation Database (HGMD): ASB1

    SABiosciences Cancer Mutation PCR Assays
    QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing ASB1
    DNA2.0 Custom Variant and Variant Library Synthesis for ASB1

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

    ASB1 for disorders           About GeneDecksing

    OMIM gene information: 605758    OMIM disorders: --

    2 diseases for ASB1:    About MalaCards
    hepatitis b    hepatitis

    Human Genome Epidemiology (HuGE) Navigator: ASB1 (1 document)

    Export disorders for ASB1 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 ASB1 gene, integrated from 9 sources (see all 18):
    (articles sorted by number of sources associating them with ASB1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Cloning and characterization of the genes encoding the ankyrin repeat and SOCS box-containing proteins Asb-1, Asb-2, Asb-3 and Asb-4. (PubMed id 11111040)1, 2, 9 Kile B.T....Alexander W.S. (2000)
    2. ASB proteins interact with cullin5 and Rbx2 to form E3 ubiquitin ligase complexes. (PubMed id 16325183)1, 2 Kohroki J.... Masuho Y. (2005)
    3. 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)
    4. Characterization of cDNA clones selected by the GeneMark analysis from size-fractionated cDNA libraries from human brain. (PubMed id 10574461)1, 2 Hirosawa M.... Ohara O. (1999)
    5. Genome-wide association and large-scale follow up iden tifies 16 new loci influencing lung function. (PubMed id 21946350)1 Soler Artigas M....Tobin M.D. (2011)
    6. New genetic associations detected in a host response study to hepatitis B vaccine. (PubMed id 20237496)1 Davila S....Seielstad M. (2010)
    7. Dynamics of cullin-RING ubiquitin ligase network revea led by systematic quantitative proteomics. (PubMed id 21145461)1 Bennett E.J....Harper J.W. (2010)
    8. Array MAPPIT: high-throughput interactome analysis in mammalian cells. (PubMed id 19159283)1 Lievens S....Tavernier J. (2009)
    9. Characterization of Cullin-box sequences that direct recruitment of Cul2-Rbx1 and Cul5-Rbx2 modules to Elongin BC-based ubiquitin ligases. (PubMed id 18187417)1 Mahrour N....Conaway J.W. (2008)
    10. Toward a confocal subcellular atlas of the human proteome. (PubMed id 18029348)1 Barbe L....Andersson-Svahn H. (2008)

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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 51665 HGNC: 16011 AceView: ASB1.1 Ensembl:ENSG00000065802 euGenes: HUgn51665
    ECgene: ASB1 H-InvDB: ASB1

    (According to HUGE)
    About This Section
    HUGE: KIAA1146

    (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 ASB1 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 ASB1 gene:
    Search GeneIP for patents involving ASB1

    GeneCards and IP:
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