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ABI1 Gene

protein-coding   GIFtS: 61
GCID: GC10M027075

Abl-Interactor 1

(Previous name: spectrin SH3 domain binding protein 1)
(Previous symbol: SSH3BP1)
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(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
Abl-Interactor 11 2     SSH3BP2
SSH3BP11 2 3     Abl Interactor 12
Abl-Binding Protein 42 3     Abl-Interactor Protein 1 Long2
Eps8 SH3 Domain-Binding Protein2 3     Interactor Protein AblBP42
Spectrin SH3 Domain-Binding Protein 12 3     Nap1 Binding Protein2
Abelson Interactor 12 3     Abi-13
Spectrin SH3 Domain Binding Protein 11     AblBP43
ABI-12     Nap1BP3
ABLBP42     e3B13
E3B12     Eps8-Binding Protein3
NAP1BP2     Nap1-Binding Protein3

External Ids:    HGNC: 113201   Entrez Gene: 100062   Ensembl: ENSG000001367547   OMIM: 6030505   UniProtKB: Q8IZP03   

Export aliases for ABI1 gene to outside databases

Previous GC identifers: GC10M027040 GC10M026695


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for ABI1 Gene:
This gene encodes a member of the Abelson-interactor family of adaptor proteins. These proteins facilitate signal
transduction as components of several multiprotein complexes, and regulate actin polymerization and cytoskeletal
remodeling through interactions with Abelson tyrosine kinases. The encoded protein plays a role in
macropinocytosis as a component of the WAVE2 complex, and also forms a complex with EPS8 and SOS1 that mediates
signal transduction from Ras to Rac. This gene may play a role in the progression of several malignancies
including melanoma, colon cancer and breast cancer, and a t(10;11) chromosomal translocation involving this gene
and the MLL gene has been associated with acute myeloid leukemia. Alternatively spliced transcript variants
encoding multiple isoforms have been observed for this gene, and a pseudogene of this gene is located on the long
arm of chromosome 14. (provided by RefSeq, Sep 2011)

GeneCards Summary for ABI1 Gene:
ABI1 (abl-interactor 1) is a protein-coding gene. Diseases associated with ABI1 include human granulocytic anaplasmosis, and cblc. GO annotations related to this gene include cytoskeletal protein binding and protein tyrosine kinase activator activity. An important paralog of this gene is ABI2.

UniProtKB/Swiss-Prot: ABI1_HUMAN, Q8IZP0
Function: May act in negative regulation of cell growth and transformation by interacting with nonreceptor
tyrosine kinases ABL1 and/or ABL2. May play a role in regulation of EGF-induced Erk pathway activation. Involved
in cytoskeletal reorganization and EGFR signaling. Together with EPS8 participates in transduction of signals
from Ras to Rac. In vitro, a trimeric complex of ABI1, EPS8 and SOS1 exhibits Rac specific guanine nucleotide
exchange factor (GEF) activity and ABI1 seems to act as an adapter in the complex. Regulates ABL1/c-Abl-mediated
phosphorylation of ENAH. Recruits WASF1 to lamellipodia and there seems to regulate WASF1 protein level. In
brain, seems to regulate the dendritic outgrowth and branching as well as to determine the shape and number of
synaptic contacts of developing neurons

Gene Wiki entry for ABI1 Gene


(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_000010.11  NT_008705.17  NC_018921.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the ABI1 gene promoter:
         USF1   LHX3b/Lhx3b   ATF-2   MEF-2   USF2   GATA-1   MEF-2A   LHX3a/Lhx3a   ZID   aMEF-2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidABI1 promoter sequence
   Search Chromatin IP Primers for ABI1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat ABI1


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

Entrez Gene cytogenetic band: 10p11.2   Ensembl cytogenetic band:  10p12.1   HGNC cytogenetic band: 10p12.1

ABI1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
ABI1 gene location

GeneLoc information about chromosome 10         GeneLoc Exon Structure

GeneLoc location for GC10M027075:  view genomic region     (about GC identifiers)

Start:
27,035,522 bp from pter      End:
27,150,016 bp from pter
Size:
114,495 bases      Orientation:
minus 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: ABI1_HUMAN, Q8IZP0 (See protein sequence)
Recommended Name: Abl interactor 1  
Size: 508 amino acids; 55081 Da
Subunit: Interacts with ABL1, ENAH, STX1A, SNAP25, VAMP2, EPS8, and through its N-terminus with WASF1. Part of a
complex consisting of ABI1, STX1A and SNAP25. Part of a complex consisting of ABI1, EPS8 and SOS1 (By
similarity). Interacts with SOS1, SOS2, GRB2, SPTA1 and the first SH3 domain of NCK1. Isoform 6 does not interact
with NCK1. Component of the WAVE2 complex composed of ABI1, CYFIP1/SRA1, NCKAP1/NAP1 and WASF2/WAVE2. Interacts
(via SH3 domain) with SHANK2 and SHANK3, but not SHANK1; the interaction is direct. Interacts with the
heterodimer MYC:MAX; the interaction may enhance MYC:MAX transcriptional activity
Secondary accessions: A9Z1Y6 B3KX62 B4DQ58 H7BXI6 O15147 O76049 O95060 Q5T2R3 Q5T2R4 Q5T2R6
Q5T2R7 Q5T2R9 Q5W070 Q5W072 Q8TB63 Q96S81 Q9NXZ9 Q9NYB8
Alternative splicing: 12 isoforms:  Q8IZP0-1   Q8IZP0-2   Q8IZP0-3   Q8IZP0-4   Q8IZP0-5   Q8IZP0-6   Q8IZP0-7   Q8IZP0-8   
Q8IZP0-9   Q8IZP0-10   Q8IZP0-11   Q8IZP0-12   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for ABI1: NX_Q8IZP0

Explore proteomics data for ABI1 at MOPED

Post-translational modifications: 

  • Phosphorylated on tyrosine residues after serum stimulation or induction by v-Abl. Seems to be phosphorylated at
    Tyr-53 by ABL1, required for nuclear but not for synaptic localization1
  • Ubiquitination2 at Lys16, Lys43
  • Modification sites at PhosphoSitePlus

  • See ABI1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (12 alternative transcripts): 
    NP_001012768.1  NP_001012769.1  NP_001012770.1  NP_001171587.1  NP_001171590.1  NP_001171591.1  NP_001171592.1  NP_001171593.1  
    NP_001171594.1  NP_001171595.1  NP_001171596.1  NP_005461.2  

    ENSEMBL proteins: 
     ENSP00000365340   ENSP00000365312   ENSP00000352114   ENSP00000365309   ENSP00000365330  
     ENSP00000365336   ENSP00000365308   ENSP00000365310   ENSP00000347555   ENSP00000279599  
     ENSP00000365304   ENSP00000365307   ENSP00000439646   ENSP00000440101  
    Reactome Protein details: Q8IZP0

    ABI1 Human Recombinant Protein Products:

    Browse Purified and Recombinant Proteins at EMD Millipore
    Browse R&D Systems for human recombinant proteins
    Browse recombinant and purified proteins available from Enzo Life Sciences
    OriGene Purified Proteins for ABI1
    OriGene Protein Over-expression Lysate for ABI1
    OriGene MassSpec for ABI1
    OriGene Custom Protein Services for ABI1
    GenScript Custom Purified and Recombinant Proteins Services for ABI1
    Novus Biologicals ABI1 Protein
    Novus Biologicals ABI1 Lysates
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for ABI1

    ABI1 Antibody Products:

    EMD Millipore Mono- and Polyclonal Antibodies for the study of ABI1
    Browse R&D Systems for Antibodies
    OriGene Antibodies for ABI1
    OriGene Custom Antibody Services for ABI1
    Novus Biologicals ABI1 Antibodies
    Search for Antibodies for ABI1 at Abcam
    Cloud-Clone Corp. Antibodies for ABI1
    Search ThermoFisher Antibodies for ABI1
    LSBio Antibodies in human, mouse, rat for ABI1

    ABI1 Assay Products:

    Browse Kits and Assays available from EMD Millipore
    OriGene Custom Assay Services for ABI1
    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for ABI1
    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for ABI1
    Cloud-Clone Corp. CLIAs for ABI1


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    5 InterPro protein domains:
     IPR000727 T_SNARE_dom
     IPR012849 Abl-interactor_HHR_dom
     IPR028456 ABI1
     IPR001452 SH3_domain
     IPR028457 ABI

    Graphical View of Domain Structure for InterPro Entry Q8IZP0

    ProtoNet protein and cluster: Q8IZP0

    3 Blocks protein domains:
    IPB001452 SH3 domain signature
    IPB011511 Variant SH3
    IPB012849 Abl-interactor HHR


    UniProtKB/Swiss-Prot: ABI1_HUMAN, Q8IZP0
    Domain: The t-SNARE coiled-coil homology domain is necessary and sufficient for interaction with STX1A (By
    similarity)
    Similarity: Belongs to the ABI family
    Similarity: Contains 1 SH3 domain
    Similarity: Contains 1 t-SNARE coiled-coil homology domain


    ABI1 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: ABI1_HUMAN, Q8IZP0
    Function: May act in negative regulation of cell growth and transformation by interacting with nonreceptor
    tyrosine kinases ABL1 and/or ABL2. May play a role in regulation of EGF-induced Erk pathway activation. Involved
    in cytoskeletal reorganization and EGFR signaling. Together with EPS8 participates in transduction of signals
    from Ras to Rac. In vitro, a trimeric complex of ABI1, EPS8 and SOS1 exhibits Rac specific guanine nucleotide
    exchange factor (GEF) activity and ABI1 seems to act as an adapter in the complex. Regulates ABL1/c-Abl-mediated
    phosphorylation of ENAH. Recruits WASF1 to lamellipodia and there seems to regulate WASF1 protein level. In
    brain, seems to regulate the dendritic outgrowth and branching as well as to determine the shape and number of
    synaptic contacts of developing neurons

         Gene Ontology (GO): 4 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding IPI11418237
    GO:0008092cytoskeletal protein binding TAS9593709
    GO:0030296protein tyrosine kinase activator activity IEA--
    GO:0032403protein complex binding IDA18560548
         
    ABI1 for ontologies           About GeneDecksing


    Phenotypes:
         11 MGI mutant phenotypes (inferred from 3 alleles(MGI details for Abi1):
     cardiovascular system  cellular  craniofacial  embryogenesis  growth/size/body 
     hematopoietic system  homeostasis/metabolism  immune system  mortality/aging  nervous system 
     no phenotypic analysis 

    ABI1 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-outs for ABI1: Abi1tm1.2Lko Abi1tm1Pen

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for ABI1
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for ABI1

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for ABI1
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for ABI1

    miRNA
    Products:
        
    Block miRNA regulation of human, mouse, rat ABI1 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate ABI1 (see all 23):
    hsa-miR-181c hsa-miR-340 hsa-miR-519a hsa-miR-9 hsa-miR-15b* hsa-miR-205* hsa-miR-1252 hsa-miR-3148
    SwitchGear 3'UTR luciferase reporter plasmidABI1 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for ABI1
    Predesigned siRNA for gene silencing in human, mouse, rat ABI1

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for ABI1

    Clone
    Products:
         
    OriGene clones in human, mouse for ABI1 (see all 57)
    OriGene ORF clones in mouse, rat for ABI1
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 12): ABI1 (NM_005470)
    Sino Biological Human cDNA Clone for ABI1
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for ABI1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat ABI1

    Cell Line
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    GenScript Custom overexpressing Cell Line Services for ABI1
    Browse ESI BIO Cell Lines and PureStem Progenitors for ABI1 
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ABI1


    (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 UniProtKB/Swiss-Prot
    ABI1_HUMAN, Q8IZP0: Cytoplasm (By similarity). Nucleus (By similarity). Cell projection, lamellipodium (By
    similarity). Cell projection, filopodium (By similarity). Cell projection, growth cone (By similarity). Cell
    junction, synapse, postsynaptic cell membrane, postsynaptic density (By similarity). Cytoplasm, cytoskeleton (By
    similarity). Note=Localized to protruding lamellipodia and filopodia tips. Also localized to neuronal growth
    cones and synaptosomes. May shuttle from the postsynaptic densities to the nucleus (By similarity)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytosol4
    endoplasmic reticulum4
    cytoskeleton2
    nucleus2

    Gene Ontology (GO): Selected cellular component terms (see all 17):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005622intracellular IDA17101133
    GO:0005634nucleus IEA--
    GO:0005737cytoplasm ----
    GO:0005783endoplasmic reticulum TAS9593709
    GO:0005829cytosol TAS--

    ABI1 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 ABI1 About   (see all 9)  
    See pathways by source

    SuperPathContained pathways About
    1Fcgamma receptor (FCGR) dependent phagocytosis
    Regulation of actin dynamics for phagocytic cup formation0.77
    Fcgamma receptor (FCGR) dependent phagocytosis0.77
    2Development FGFR signaling pathway
    Development FGFR signaling pathway0.45
    3Development HGF signaling pathway
    Development EGFR signaling via small GTPases0.44
    4CDC42 signaling events
    RAC1 signaling pathway0.34
    5Stabilization and expansion of the E-cadherin adherens junction
    Stabilization and expansion of the E-cadherin adherens junction

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    3 Downloadable PowerPoint Slides of GeneGlobe Pathway Central Maps for ABI1
        EphB-EphrinB Signaling
    EGF Pathway
    Ephrin-Eph Signaling

    2 GeneGo (Thomson Reuters) Pathways for ABI1
        Development EGFR signaling via small GTPases
    Development FGFR signaling pathway

    Selected BioSystems Pathways for ABI1 (see all 6)
        EGFR1 Signaling Pathway
    E-cadherin signaling in the nascent adherens junction
    Stabilization and expansion of the E-cadherin adherens junction
    ErbB1 downstream signaling
    Regulation of RAC1 activity


    1 Reactome Pathway for ABI1
        Regulation of actin dynamics for phagocytic cup formation



    ABI1 for pathways           About GeneDecksing

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for ABI1
    Interactions:

        GeneGlobe Interaction Network for ABI1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for ABI1 (Q8IZP01, 2, 3 ENSP000003653124) via UniProtKB, MINT, STRING, and/or I2D (see all 145)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ABL1P005191, 2, 3, ENSP000003614234EBI-375446,EBI-375543 MINT-7385805 MINT-7385781 MINT-3390323 MINT-7907945 MINT-7385753 MINT-7385822 MINT-7385733 MINT-3390262 I2D: score=7 STRING: ENSP00000361423
    PIK3R1P279861, 2, 3, ENSP000002743354EBI-375446,EBI-79464 MINT-7907848 MINT-7907881 MINT-7907897 MINT-7907913 MINT-7907832 MINT-7907865 MINT-7907815 MINT-7907929 I2D: score=1 STRING: ENSP00000274335
    ABL2P426841, 2, 3, ENSP000003565954EBI-375446,EBI-1102694 MINT-7908314 MINT-7908442 I2D: score=1 STRING: ENSP00000356595
    PIK3R3Q925691, 2, 3, ENSP000002627414EBI-375446,EBI-79893 MINT-7908283 MINT-7908490 I2D: score=1 STRING: ENSP00000262741
    VAV1P154981, 2, 3, ENSP000003022694EBI-375446,EBI-625518 MINT-7908330 MINT-7908522 I2D: score=1 STRING: ENSP00000302269
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 12):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001756somitogenesis IEA--
    GO:0006928cellular component movement IDA11516653
    GO:0007169transmembrane receptor protein tyrosine kinase signaling pathway TAS9010225
    GO:0008154actin polymerization or depolymerization NAS11516653
    GO:0008285negative regulation of cell proliferation TAS9010225

    ABI1 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 ABI1

    3 HMDB Compounds for ABI1    About this table
    CompoundSynonyms CAS #PubMed Ids
    Guanosine diphosphate5'-GDP (see all 10)146-91-8--
    Guanosine monophosphate5'-GMP (see all 14)85-32-5--
    Guanosine triphosphate5'-GTP (see all 10)86-01-1--

    7 Novoseek inferred chemical compound relationships for ABI1 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    af 10 78.9 3 11477655 (2)
    abscisic acid 74.3 24 11208021 (6), 9090884 (4), 19407143 (3), 10488243 (2) (see all 6)
    tyrosine 39.9 9 17389688 (2), 16899465 (1), 15657136 (1), 11418237 (1) (see all 5)
    phosphoinositide 27.3 2 12515821 (1), 17389688 (1)
    proline 21.1 5 9694699 (2), 11477655 (1)
    threonine 15.4 1 11208021 (1)
    serine 0 1 11208021 (1)



    ABI1 for compounds           About GeneDecksing



    (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 )
    About This Section

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    REFSEQ mRNAs for ABI1 gene (12 alternative transcripts): 
    NM_001012750.2  NM_001012751.2  NM_001012752.2  NM_001178116.1  NM_001178119.1  NM_001178120.1  NM_001178121.1  NM_001178122.1  
    NM_001178123.1  NM_001178124.1  NM_001178125.1  NM_005470.3  

    Unigene Cluster for ABI1:

    Abl-interactor 1
    Hs.508148  [show with all ESTs]
    Unigene Representative Sequence: NM_005470
    15 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000376170 ENST00000376142 ENST00000359188 ENST00000376139 ENST00000376160
    ENST00000376166 ENST00000376138(uc010qdg.2) ENST00000376140 ENST00000473481
    ENST00000355394(uc001isx.3) ENST00000346832(uc001itb.3 uc001itd.3 uc001ita.3 uc010qdk.2)
    ENST00000376134(uc001ite.3 uc001itc.3 uc001isy.3 uc001isz.3)
    ENST00000376137(uc010qdj.2) ENST00000536334(uc010qdh.2) ENST00000490841(uc010qdi.2)


    miRNA
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    Selected qRT-PCR Assays for microRNAs that regulate ABI1 (see all 23):
    hsa-miR-181c hsa-miR-340 hsa-miR-519a hsa-miR-9 hsa-miR-15b* hsa-miR-205* hsa-miR-1252 hsa-miR-3148
    SwitchGear 3'UTR luciferase reporter plasmidABI1 3' UTR sequence
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    Predesigned siRNA for gene silencing in human, mouse, rat ABI1
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    OriGene ORF clones in mouse, rat for ABI1
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 12): ABI1 (NM_005470)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for ABI1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat ABI1
    Primer
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    OriGene qPCR primer pairs and template standards for ABI1
    OriGene qSTAR qPCR primer pairs in human, mouse for ABI1
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat ABI1
      QuantiTect SYBR Green Assays in human, mouse, rat ABI1
      QuantiFast Probe-based Assays in human, mouse, rat ABI1

    Additional mRNA sequence: 

    AB040151.1 AB209268.1 AF001628.1 AF006516.1 AF090888.1 AF260262.1 AF540955.1 AK126803.1 
    AK291823.1 AK296751.1 AK298646.1 AK315914.1 BC013238.1 BC024254.2 FJ380057.1 FJ380058.1 
    FJ380059.1 U87166.1 

    20 DOTS entries:

    DT.99955725  DT.101986500  DT.100827868  DT.117833  DT.97857274  DT.101986503  DT.95295998  DT.100827864 
    DT.92051985  DT.121230422  DT.121230445  DT.101970662  DT.102833994  DT.75159975  DT.95261182  DT.100827862 
    DT.121230408  DT.121230421  DT.121230461  DT.97847417 

    Selected AceView cDNA sequences (see all 359):

    BM784697 AW080248 BP366512 BE219089 BI836715 CF541195 BI325051 AF540955 
    AL079974 AA627192 AA448884 BF805901 BM715247 AI891112 AU135922 BU729983 
    AA232531 BP335815 AA366290 AW193581 BC024254 CB054534 AI151260 BE885883 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for ABI1 (see all 12)    About this scheme

    ExUns: 1a · 1b · 1c ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8a · 8b · 8c · 8d · 8e ^ 9a · 9b ^ 10a · 10b · 10c · 10d ^ 11 ^ 12 ^ 13a · 13b ^ 14a · 14b ^
    SP1:                    -     -     -           -     -                                                                                   -                     
    SP2:                    -     -     -           -     -                                                                                   -     -               
    SP3:                          -                 -     -                                                                                                         
    SP4:                                                                                                                                      -     -               
    SP5:                                                                                                                                      -     -               

    ExUns: 15a · 15b · 15c · 15d
    SP1:                        
    SP2:                        
    SP3:                        
    SP4:                        
    SP5:                        


    ECgene alternative splicing isoforms for ABI1

    (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)
    About This Section

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    ABI1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CACTTTGTGT
    ABI1 Expression
    About this image


    ABI1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 7) fully expand
     
     Brain (Nervous System)    fully expand to see all 3 entries
             Cerebral Cortex
     
     Ovary (Reproductive System)    fully expand to see all 2 entries
             Ovarian Mesenchymal Stroma Cells Ovary Interstitium
             Oviduct
     
     Trophoblast (Extraembryonic Tissues)
             Trophoblast Cells Trophoblast
     
     Testis (Reproductive System)
             Leydig Cells Testis Interstitium
     
     Liver (Hepatobiliary System)
             Hepatocytes Liver Lobule
    ABI1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    ABI1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.508148

    UniProtKB/Swiss-Prot: ABI1_HUMAN, Q8IZP0
    Tissue specificity: Widely expressed, with highest expression in brain

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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)
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    This gene was present in the common ancestor of animals.

    Orthologs for ABI1 gene from Selected species (see all 16)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Abi11 , 5 abl-interactor 11, 5 92.38(n)1
    98.34(a)1
      2 (15.18 cM)5
    113081  NM_001077190.21  NP_001070658.11 
     229400735 
    chicken
    (Gallus gallus)
    Aves ABI11 abl-interactor 1 86.68(n)
    96.46(a)
      420489  NM_001039281.2  NP_001034370.2 
    lizard
    (Anolis carolinensis)
    Reptilia ABI16
    abl-interactor 1
    96(a)
    1 ↔ 1
    6(14588682-14660287)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.76652 Xenopus laevis transcribed sequence with strong similarity to protein refNP_005461.1 (H.sapiens) spectrin SH3 domain binding protein 1; eps8 binding protein; interactor protein AblBP4; Abl-interactor protein 1 long [Homo sapiens] less 81.22(n)    BX851571.1 
    zebrafish
    (Danio rerio)
    Actinopterygii zgc731742 hypothetical protein MGC73174 75.23(n)   393711  BC059524.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta Abi6
    Abelson interacting protein
    43(a)
    1 → many
    3R(9944984-9948142)
    worm
    (Caenorhabditis elegans)
    Secernentea abi-16
    Protein ABI-1 (abi-1) mRNA, complete cds
    36(a)
    1 → many
    III(5690107-5692740) WBGene00015146


    ENSEMBL Gene Tree for ABI1 (if available)
    TreeFam Gene Tree for ABI1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for ABI1 gene
    ABI22  ABI32  
    10 SIMAP similar genes for ABI1 using alignment to 6 protein entries:     ABI1_HUMAN (see all proteins):
    ABI-2    ABI2    SH3GL1    SH3RF3    ARHGEF7    SH3GL2
    ITSN2    argBPIB    SORBS3    ABI3

    ABI1 for paralogs           About GeneDecksing


    1 Pseudogenes.org Pseudogene for ABI1
    PGOHUM00000248179


    (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 ABI1 (see all 2493)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 10 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs10461871,2
    C--26695845(-) AAAAAA/CCTTTT 12 -- ut314Minor allele frequency- C:0.02MN NA WA EA 424
    rs110152681,2
    A--26707305(+) AAAAAC/ACTTTC 12 -- int1 trp31Minor allele frequency- A:0.50NA 2
    rs2008393071,2
    --26707305(+) AAAAA-/CCTTTC 12 -- int10--------
    rs113070401,2
    C,F--26762909(+) TCGTCT/-TACCA 12 -- int12Minor allele frequency- -:0.50NA 4
    rs113069661,2
    C--26767361(+) AAAAA-/A/AAAAA
    /AAAAAAAAA
    AAAAA
    24 -- int1 cds1 trp32NA 4
    rs24779401,2
    C,H--26792770(+) aaAAaA/Tatata 12 -- int10--------
    rs1388497511,2
    --26792771(+) AAAAA-/TAT   
      ATATAT
    ATATA
    12 -- int10--------
    rs1905498271,2
    C--26941673(+) GAGTCA/GGGAAA 12 -- ds50010--------
    rs1140031041,2
    C--26941797(+) AGGCAT/CCTGTT 12 -- ds50011Minor allele frequency- C:0.01WA 118
    rs2021752131,2
    C--26941823(+) TCTTAC/TAGAGT 12 -- ds50010--------

    HapMap Linkage Disequilibrium report for ABI1 (27035522 - 27150016 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 5 variations for ABI1:    About this table    
    Variant IDTypeSubtypePubMed ID
    dgv125e199CNV Deletion23128226
    esv270960CNV Insertion20981092
    nsv6132CNV Loss18451855
    esv26420CNV Gain19812545
    nsv831812CNV Gain17160897

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing ABI1
    DNA2.0 Custom Variant and Variant Library Synthesis for ABI1

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

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    OMIM gene information: 603050    OMIM disorders: --

    UniProtKB/Swiss-Prot: ABI1_HUMAN, Q8IZP0
  • Note=A chromosomal aberration involving ABI1 is a cause of acute leukemias. Translocation
    t(10;11)(p11.2;q23) with KMT2A/MLL1. ABI1 isoform 2 was found to be present in acute leukemia KMT2A/MLL1-ABI1
    fusion transcript

  • Selected diseases for ABI1 (see all 23):    
    About MalaCards
    human granulocytic anaplasmosis    cblc    acute monocytic leukemia    acute myeloid leukemia
    myeloid leukemia    monocytic leukemia    noma    melanoma
    leukemia    breast cancer    acute leukemia    ataxia
    hepatocellular carcinoma    alzheimer's disease    tonsillitis    ovarian cancer
    thyroiditis    multiple myeloma    myeloma    cerebritis


    ABI1 for disorders           About GeneDecksing


    Congresses - knowledge worth sharing:
    Alzheimer's & Parkinson's Diseases Congress (ADPD) 18 - 22 March 2015

    2 Novoseek inferred disease relationships for ABI1 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    leukemogenesis 62 1 9694699 (1)
    leukemia 19.5 5 11477655 (2), 12547160 (1)

    Genetic Association Database (GAD): ABI1
    Human Genome Epidemiology (HuGE) Navigator: ABI1 (2 documents)

    Export disorders for ABI1 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

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    PubMed articles for ABI1 gene, integrated from 10 sources (see all 104):
    (articles sorted by number of sources associating them with ABI1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Isolation and characterization of e3B1, an eps8 binding protein that regulates cell growth. (PubMed id 9010225)1, 2, 3, 9 Biesova Z.... Wong W.T. (Oncogene 1997)
    2. Identification of a candidate human spectrin Src homology 3 domain- binding protein suggests a general mechanism of association of tyrosine kinases with the spectrin-based membrane skeleton. (PubMed id 9593709)1, 2, 3 Ziemnicka-Kotula D.... Kotula L. (J. Biol. Chem. 1998)
    3. ABI-1, a human homolog to mouse Abl-interactor 1, fuses the MLL gene in acute myeloid leukemia with t(10;11)(p11.2;q23). (PubMed id 9694699)1, 2, 9 Taki T.... Hayashi Y. (Blood 1998)
    4. Abl interactor 1 binds to sos and inhibits epidermal growth factor- and v-Abl-induced activation of extracellular signal-regulated kinases. (PubMed id 11003655)1, 2, 9 Fan P.-D. and Goff S.P. (Mol. Cell. Biol. 2000)
    5. Isolation of hNap1BP which interacts with human Nap 1 (NCKAP1) whose expression is down-regulated in Alzheimer's disease. (PubMed id 11418237)1, 2, 9 Yamamoto A.... Sakaki Y. (Gene 2001)
    6. Allosteric inhibition of the nonMyristoylated c-Abl tyrosine kinase by phosphopeptides derived from Abi1/Hssh3bp1. (PubMed id 18328268)1, 2 Xiong X.... Kotula L. (Biochim. Biophys. Acta 2008)
    7. A scan of chromosome 10 identifies a novel locus showing strong association with late-onset Alzheimer disease. (PubMed id 16385451)1, 4 Grupe A....Goate A. (Am. J. Hum. Genet. 2006)
    8. Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PubMed id 17081983)1, 2 Olsen J.V....Mann M. (Cell 2006)
    9. The DNA sequence and comparative analysis of human chromosome 10. (PubMed id 15164054)1, 2 Deloukas P.... Rogers J. (Nature 2004)
    10. 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. (Genome Res. 2004)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     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)
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    Entrez Gene: 10006 HGNC: 11320 AceView: ABI1 Ensembl:ENSG00000136754 euGenes: HUgn10006
    ECgene: ABI1 H-InvDB: ABI1

    (According to HUGE)
    About This Section

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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)
    About This Section

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    NameDescription
    PharmGKB entry for ABI1 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for ABI1 Genetics and Cytogenetics in Oncology and Haematology

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section

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    Patent Information for ABI1 gene:
    Search GeneIP for patents involving ABI1

    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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