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

ABI1 Gene

protein-coding   GIFtS: 60
GCID: GC10M027075

abl-interactor 1

(Previous name: spectrin SH3 domain binding protein 1 )
(Previous symbol: SSH3BP1)
 Explore 19 diseases affiliated with
ABI1 via our new
 Human Malady Compendium 
Biological research products
for ABI1
    

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

Aliases
Abl-Interactor 11 2     SSH3BP2
SSH3BP11 2 3     Abl Interactor 12
ABI-11 2     Abl-Interactor Protein 1 Long2
E3B11 2     Interactor Protein AblBP42
Abl-Binding Protein 42 3     Nap1 Binding Protein2
Eps8 SH3 Domain-Binding Protein2 3     Abi-13
Spectrin SH3 Domain-Binding Protein 12 3     AblBP43
Abelson Interactor 12 3     Nap1BP3
Spectrin SH3 Domain Binding Protein 11     E3B11 2
ABLBP42     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:
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)

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


(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_000010.10  NC_018921.1  NT_008705.16  
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 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: 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

Post-translational modifications:

  • In vitro substrate for v-Abl (By similarity). Phosphorylated on tyrosine residues after serum stimulation or induction
  • by v-Abl1
  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q8IZP0

  • ABI1 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    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: 
     ENSP00000365308   ENSP00000365340   ENSP00000365336   ENSP00000365330   ENSP00000365312  
     ENSP00000352114   ENSP00000365309   ENSP00000365310   ENSP00000347555   ENSP00000279599  
     ENSP00000365304   ENSP00000365307   ENSP00000439646   ENSP00000440101  
    Reactome Protein details: Q8IZP0
    Human Recombinant Protein Products: 
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    OriGene Purified Proteins (see all 2): ABI1
    OriGene Protein Over-expression Lysate (see all 7): ABI1
    OriGene Custom Protein Services for ABI1 
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    Novus Biologicals ABI1 Protein
    Novus Biologicals ABI1 Lysates
    Browse Sino Biological Recombinant Proteins
    Browse ProSpec Recombinant Proteins
    Uscn Proteins for ABI1

    Gene Ontology (GO): 5/14 cellular component terms (GO ID links to tree view) (see all 14):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005622intracellular IDA17101133
    GO:0005625soluble fraction ----
    GO:0005634nucleus IEA--
    GO:0005737cytoplasm ----
    GO:0005783endoplasmic reticulum TAS9593709


    ABI1 for ontologies           About GeneDecksing



    ABI1 Antibody Products: 
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    Search ThermoFisher Antibodies for ABI1

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    Browse OriGene Fluorogenic Cell Assay Kits
    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for ABI1
    Browse Enzo Life Sciences for kits & assays
    Uscn ELISAs and CLIAs for ABI1


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

    ABI1 for domains           About GeneDecksing

    4 InterPro domains/families:
     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 families:
    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


    (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: 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)

    miRNA
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    Browse MicroRNA Expression Plasmids
    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
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    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for ABI1 (see all 7)
    OriGene shRNA RFP: ABI1
    OriGene siRNA: ABI1
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat ABI1

    Gene Editing
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    Clone
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    Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
    OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for ABI1 (see all 18)
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    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)
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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ABI1

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding IPI--
    GO:0008092cytoskeletal protein binding TAS9593709
    GO:0030296protein tyrosine kinase activator activity IEA--


    ABI1 for ontologies           About GeneDecksing


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


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways - 5/10 super-pathways (see all 10About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Regulation of actin dynamics for phagocytic cup formation
    Regulation of actin dynamics for phagocytic cup formation1.00
    Fcgamma receptor (FCGR) dependent phagocytosis0.80
    Role of myosins in phagosome formation0.80
    Branching and elongation of mother and daughter filaments0.29
    2Development FGFR signaling pathway
    Development FGFR signaling pathway1.00
    Development_FGFR signaling pathway0.98
    3Immune System
    Immune System1.00
    Innate Immune System0.46
    4Development HGF signaling pathway
    Development EGFR signaling via small GTPases0.44
    Development_EGFR signaling via small GTPases0.44
    5EGFR1 Signaling Pathway
    EGFR1 Signaling Pathway1.00

    Pathway sources
    See GeneCards unified pathways
    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
    Stabilization and expansion of the E-cadherin adherens junction
    Regulation of RAC1 activity
    RAC1 signaling pathway
    ErbB1 downstream signaling

    5/6        Reactome Pathways for ABI1 (see all 6)
        Role of myosins in phagosome formation
    Branching and elongation of mother and daughter filaments
    Regulation of actin dynamics for phagocytic cup formation
    Fcgamma receptor (FCGR) dependent phagocytosis
    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)

    5/121 Interacting proteins for ABI1 (Q8IZP01, 2, 3 ENSP000003653124) via UniProtKB, MINT, STRING, and/or I2D (see all 121)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ABL1P005191, 2, 3, ENSP000003614234EBI-375446,EBI-1550796 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): 5/8 biological process terms (GO ID links to tree view) (see all 8):    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, 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 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 235 Homo sapiens; Mar 10 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for 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:
    ENST00000376138(uc010qdg.2) ENST00000376170 ENST00000376166 ENST00000376160
    ENST00000376142 ENST00000359188 ENST00000376139 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)


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      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat ABI1

    Additional cDNA 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.95295998  DT.101986503  DT.100827864 
    DT.92051985  DT.121230422  DT.121230445  DT.102833994  DT.75159975  DT.101970662  DT.95261182  DT.100827862 
    DT.121230408  DT.121230421  DT.121230461  DT.97847417 

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

    AW583936 AI802109 CA431271 AU139442 AW512180 AA322376 BP372238 CA306697 
    BX493519 BU753342 AA513423 AA857577 AB040151 AI381214 AK126803 AA504103 
    AA731455 AW074692 AI699080 BE886808 AI360798 CA945089 AA603947 AA313543 

    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)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: CACTTTGTGT

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

    About this image
    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

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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 7/20 species (see all 20)    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
    --
    95(a)
    1 ↔ 1
    6(14588682-14655950)
    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
    39(a)
    1 → many
    3R(9944984-9948142)
    worm
    (Caenorhabditis elegans)
    Secernentea abi-16
    ABl Interactor homolog family member (abi-1)
    32(a)
    1 → many
    III(5690062-5692695)


    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, 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

    10/2119 NCBI SNPs in ABI1 are shown (see all 2119    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 10 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs745474661,2
    C,--26696065(+) AGTCTG/TCNNNN 12 -- ut310--------
    rs108290561,2
    C,F,A,H,--26696557(+) GCATTT/ATGATT 12 -- ut3111Minor allele frequency- A:0.14NA NS EA WA 800
    rs171285621,2
    F--26697197(-) AAAAGC/AAGCAA 24 -- ut311Minor allele frequency- A:0.45MN 184
    rs2019761231,2
    C--26697199(-) TGAAAC/GAAGCA 12 -- ut310--------
    rs1122767141,2
    --26697562(+) TACATG/AAGCAT 12 -- ut311Minor allele frequency- A:0.50CSA 2
    rs1125799501,2
    C,--26698215(+) GCTCTC/TTGAAT 12 -- int11Minor allele frequency- T:0.50NA 2
    rs745121231,2
    F,--26698893(+) CTATAT/CTCACT 12 -- int11Minor allele frequency- C:0.04NA 120
    rs127844141,2
    H--26698993(+) aaaggT/Gttatt 12 -- int14Minor allele frequency- G:0.00NS EA 402
    rs799672591,2
    F,--26699188(+) CTACTA/GTCAAA 12 -- int11Minor allele frequency- G:0.02EA 120
    rs764667791,2
    F,--26700112(+) TGAAAT/CACAAT 12 -- int11Minor allele frequency- C:0.03EA 120

    HapMap Linkage Disequilibrium report for ABI1 (27035522 - 27150016 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 1 variation for ABI1
         1 CNV: 70942

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

    ABI1 for disorders           About GeneDecksing

    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 MLL. ABI1 isoform 2 was found to be present in acute leukemia MLL-ABI1 fusion transcript

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

    2 Novoseek 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)

    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 94):
    (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. Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PubMed id 17081983)1, 2 Olsen J.V....Mann M. (2006)
    8. The DNA sequence and comparative analysis of human chromosome 10. (PubMed id 15164054)1, 2 Deloukas P.... Rogers J. (2004)
    9. 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)
    10. Induction of colonic epithelial cell apoptosis by p47-dependent oxidants(1). (PubMed id 12681507)1, 2 Gu Y.... Terada L.S. (2003)

    (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



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences),
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