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

ABI1 Gene

protein-coding   GIFtS: 62
GCID: GC10M027075

Abl-Interactor 1

(Previous name: spectrin SH3 domain binding protein 1)
(Previous symbol: SSH3BP1)
Alzheimer's & Parkinson's Diseases Congress
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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)
About This Section

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

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, and among its related super-pathways are Regulation of actin dynamics for phagocytic cup formation and Immune System. 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-mediated
phosphorylation of ENAH. Recruits WASF1 to lamellipodia and there seems to regulate WASF1 protein level (By
similarity)

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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000010.10  NT_008705.16  NC_018921.2  
Regulatory elements:
   SABiosciences 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 SABiosciences Chromatin IP Primers for ABI1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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 UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

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
Subcellular location: 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, synaptosome (By similarity). Cytoplasm, cytoskeleton (By similarity). Note=Localized to
protruding lamellipodia and filopodia tips. Also localized to neuronal growth cones and synaptosomes (By
similarity)
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:

  • UniProtKB: In vitro substrate for v-Abl (By similarity). Phosphorylated on tyrosine residues after serum stimulation or
    induction by v-Abl
  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q8IZP0

  • ABI1 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    ABI1 Protein Expression
    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
    Human Recombinant Protein Products for ABI1: 
    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 

    Gene Ontology (GO): 5/13 cellular component terms (GO ID links to tree view) (see all 13):    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



    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
    GenScript Custom Superior Antibodies Services for ABI1
    Novus Biologicals ABI1 Antibodies
    Abcam antibodies for ABI1
    Cloud-Clone Corp. Antibodies for ABI1 
    Search ThermoFisher Antibodies for ABI1
    LSBio Antibodies in human, mouse, rat for ABI1 

    Assay Products for ABI1: 
    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)
    About This Section
    4 InterPro protein domains:
     IPR000727 T_SNARE_dom
     IPR012849 Abl-interactor_HHR_dom
     IPR000108 p67phox
     IPR001452 SH3_domain

    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,
    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, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    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-mediated
    phosphorylation of ENAH. Recruits WASF1 to lamellipodia and there seems to regulate WASF1 protein level (By
    similarity)

         Gene Ontology (GO): 3 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding IPI11418237
    GO:0008092cytoskeletal protein binding TAS9593709
    GO:0030296protein tyrosine kinase activator activity IEA--
         
    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 
     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 - Custom generated mouse model solutions for ABI1 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions 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
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    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat ABI1
    8/23 QIAGEN miScript miRNA 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:
        
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene RNAi products in human, mouse, rat for ABI1
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat ABI1

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for ABI1
    Sirion Biotech Customized adenovirus for overexpression of ABI1

    Clone
    Products:
         
    Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
    OriGene clones in human, mouse for ABI1 (see all 53)
    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)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for ABI1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat ABI1
    Sirion Biotech Customized lentivirus for stable overexpression of ABI1 
                         Customized lentivirus expression plasmids for stable overexpression of ABI1 

    Cell Line
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    GenScript Custom overexpressing Cell Line Services for ABI1
    Search LifeMap BioReagents cell lines for ABI1
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ABI1


    (Pathways according to EMD Millipore, 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 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 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for ABI1 About   (see all 10)                                                                                              See pathways by source

    SuperPathContained pathways About
    1Fcgamma receptor (FCGR) dependent phagocytosis
    Regulation of actin dynamics for phagocytic cup formation0.80
    Fcgamma receptor (FCGR) dependent phagocytosis0.80
    2Immune System
    Immune System0.56
    Innate Immune System0.50
    3Development FGF-family signaling
    Development FGFR signaling pathway0.50
    4Development HGF signaling pathway
    Development EGFR signaling via small GTPases0.44
    5CDC42 signaling events
    RAC1 signaling pathway0.34

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    2 EMD Millipore Pathways for ABI1
        Development EGFR signaling via small GTPases
    Development FGFR signaling pathway


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

    5/6 BioSystems Pathways for ABI1 (see all 6)
        EGFR1 Signaling Pathway
    E-cadherin signaling in the nascent adherens junction
    ErbB1 downstream signaling
    Stabilization and expansion of the E-cadherin adherens junction
    Regulation of RAC1 activity

    4        Reactome Pathways for ABI1
        Regulation of actin dynamics for phagocytic cup formation
    Fcgamma receptor (FCGR) dependent phagocytosis
    Immune System
    Innate Immune System



    ABI1 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for ABI1

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

    5/128 Interacting proteins for ABI1 (Q8IZP01, 2, 3 ENSP000003653124) via UniProtKB, MINT, STRING, and/or I2D (see all 128)
    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
    PIK3R1P279862, 3, ENSP000002743354MINT-7907848 MINT-7907881 MINT-7907897 MINT-7907913 MINT-7907832 MINT-7907865 MINT-7907815 MINT-7907929 I2D: score=1 STRING: ENSP00000274335
    EPS8Q129292, 3, ENSP000002811724MINT-15663 MINT-15665 MINT-15664 I2D: score=5 STRING: ENSP00000281172
    ABL2P426842, 3, ENSP000003565954MINT-7908314 MINT-7908442 I2D: score=1 STRING: ENSP00000356595
    SOCS7O145122, 3, ENSP000003306594MINT-7908538 MINT-7908139 I2D: score=1 STRING: ENSP00000330659
    About this table

    Gene Ontology (GO): 5/12 biological process terms (GO ID links to tree view) (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 HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    ABI1 for compounds           About GeneDecksing

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

    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)

    Search CenterWatch for drugs/clinical trials and news about ABI1

    (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,
    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, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    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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    hsa-miR-181c hsa-miR-340 hsa-miR-519a hsa-miR-9 hsa-miR-15b* hsa-miR-205* hsa-miR-1252 hsa-miR-3148
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    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
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      QIAGEN 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 

    24/359 AceView cDNA sequences (see all 359):

    BQ948892 AA366290 BX508879 CA431271 BM784697 BX476599 AL079974 AU139442 
    AW068217 AA513423 AA233725 AB040151 BI836715 BP335815 AA313543 AW193581 
    AA448884 AA504103 BP372238 BI763572 BP349356 AI635883 BF805901 AW027952 

    GeneLoc Exon Structure

    5/12 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™, 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

    ABI1 expression in normal human tissues (normalized intensities)      ABI1 embryonic expression: see
    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 
     5/31 selected tissues (see all 31) fully expand
     
     Epithelium
             cervix, uterine ; squamous epithelial cells   
     
     Testis (Reproductive System)    fully expand to see all 4 entries
             Leydig Cells Testis Interstitium
             seminal vesicle ; glandular cells   
     
     Colon (Gastrointestinal Tract)    fully expand to see all 4 entries
             colon ; peripheral nerve/ganglion   
     
     Uterus
             uterus, post-menopause ; glandular cells   
     
     Brain (Nervous System)    fully expand to see all 3 entries
             Cerebral Cortex

    See ABI1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for ABI1

    SOURCE GeneReport for Unigene cluster: Hs.508148

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

        SABiosciences Custom PCR Arrays for ABI1
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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 ABI1 gene from 7/15 species (see all 15)    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_001077190.11  NP_001070658.11 
     229400735 
    chicken
    (Gallus gallus)
    Aves ABI11 abl-interactor 1 86.68(n)
    96.46(a)
      420489  XM_001233768.2  XP_001233769.1 
    lizard
    (Anolis carolinensis)
    Reptilia ABI16
    Uncharacterized protein
    96(a)
    1 ↔ 1
    6(14588682-14660287)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.76652 Xenopus laevis transcribed sequence with strong similarity more 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
    39(a)
    1 → many
    3R(9944984-9948142)
    worm
    (Caenorhabditis elegans)
    Secernentea abi-16
    Protein ABI-1
    29(a)
    1 → many
    III(5690107-5692740)


    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)
    About This Section
    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) 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

    10/2493 SNPs in ABI1 are shown (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

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    (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
    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

  • 18 diseases for ABI1:    About MalaCards
    human granulocytic anaplasmosis    cblc    acute myeloid leukemia    colon cancer
    myeloid leukemia    acute monocytic leukemia    monocytic leukemia    noma
    melanoma    leukemia    breast cancer    acute leukemia
    macular degeneration    ataxia    alzheimer's disease    gastric cancer
    hepatocellular carcinoma    neuronitis


    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

    PubMed articles for ABI1 gene, integrated from 9 sources (see all 99):
    (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. (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. (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. (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. (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. (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. (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. (2006)
    8. Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PubMed id 17081983)1, 2 Olsen J.V....Mann M. (2006)
    9. The DNA sequence and comparative analysis of human chromosome 10. (PubMed id 15164054)1, 2 Deloukas P.... Rogers J. (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. (2004)

    (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: 10006 HGNC: 11320 AceView: ABI1 Ensembl:ENSG00000136754 euGenes: HUgn10006
    ECgene: ABI1 H-InvDB: ABI1

    (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 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
    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



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    About This Section

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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 3 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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