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ABI1 Gene

protein-coding   GIFtS: 60

GC10M027075
abl-interactor 1
(Previous name: spectrin SH3 domain binding protein 1 )
Symbol approved by the HUGO Gene Nomenclature Committee (HGNC) database
(Previous symbol: SSH3BP1)
Services    
(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc , and/or 7Ensembl, 8miRBase)
About This Section

Aliases
ABI-1 1, 2
Abi-1 3
AblBP4 3
E3B1 1, 2
NAP1BP 2
Nap1BP 3
OTTHUMP00000019352 2
OTTHUMP00000019355 2
SSH3BP 2
SSH3BP1 2, 3
e3B1 3
Descriptions
Abelson interactor 1 2, 3
Abl-binding protein 4 3
Abl-interactor protein 1 long 2
Eps8 SH3 domain-binding protein 3
Eps8-binding protein 3
Nap1-binding protein 3
Spectrin SH3 domain-binding protein 1 3
abl-interactor 1 2
eps8 binding protein 2
interactor protein AblBP4 2
nap1 binding protein 2
spectrin SH3 domain binding protein 1 1, 2
External Ids
HGNC: 113201
Entrez Gene: 100062
UniProtKB: Q8IZP03
Ensembl: ENSG000001367547
Search outside databases for aliases for ABI1 gene

Previous GC identifer: GC10M027040

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

EntrezGene summary for ABI1:
The protein encoded by this gene has been found to form a complex with EPS8 and SOS1, and is
thought to be involved in the transduction of signals from Ras to Rac. In addition, the encoded
protein may play a role in the regulation of EGF-induced Erk pathway activation as well as
cytoskeletal reorganization and EGFR signaling. Several transcript variants encoding multiple
isoforms have been found for this gene. [provided by RefSeq]

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 MENA.
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 36),
and/or miRBase,
Genomic Views according to UCSC and Ensembl, Transcription factor binding sites according to SABiosciences)
About This Section

Genomic View:
UCSC Golden Path with GeneCards custom track

 Transcription factor binding sites upstream to the ABI1 gene  

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)

GeneLoc gene densities for chromosome 10         GeneLoc Exon Structure

GeneLoc location for GC10M027075:     (about GC identifiers)

Start:
27,075,528 bp from pter
End:
27,189,965 bp from pter
Size:
114,438 bases
Orientation:
minus strand
RefSeq DNA sequence:
NC_000010.9  NT_008705.15  
(According to 1UniProtKB, and/or Ensembl, Phosphorylation sites according to 2Phosphosite, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Enzo Life Sciences, Abnova, OriGene and/or, Abcam,
Biochemical Assays by Invitrogen, Millipore, R&D Systems, Cell Signaling Technology, and/or Enzo Life Sciences, Ontologies according to Gene Ontology Consortium 01 Apr 2009 and Entrez Gene, Antibodies by Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Cell Signaling Technology, Abcam, Abnova, and/or Novus Biologicals)
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, MENA, 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: O15147 O76049 O95060 Q5W070 Q5W072 Q8TB63 Q96S81 Q9NXZ9 Q9NYB8
Alternative splicing: 10 isoforms:  Q8IZP0-1   Q8IZP0-2   Q8IZP0-3   Q8IZP0-4   Q8IZP0-5   Q8IZP0-6   Q8IZP0-7   Q8IZP0-8   
Q8IZP0-9   Q8IZP0-10   (Additional isoforms seem to exist)

Post-translational modifications:

  • In vitro substrate for v-Abl (By similarity). Phosphorylated on tyrosine residues after serum
    stimulation or induction by v-Abl1
  • View phosphorylation sites using PhosphoSite2


  • REFSEQ proteins (4 alternative transcripts): 
    NP_001012768.1  NP_001012769.1  NP_001012770.1  NP_005461.2  


    ENSEMBL proteins: 
    ENSP00000365330 ENSP00000352114 ENSP00000365336 ENSP00000279599 ENSP00000365304 ENSP00000365312 
    ENSP00000347555 ENSP00000365308 ENSP00000365310 ENSP00000365309 ENSP00000365340 ENSP00000365305 
    ENSP00000365307 


    Human Recombinant Proteins 
    Browse Drug Discovery Central at Invitrogen for human recombinant proteins
    Browse Purified and Recombinant Proteins at Millipore
    Browse Human Recombinant Proteins at Sigma-Aldrich  
    Browse R&D Systems for human recombinant proteins
    Browse recombinant and purified proteins available from Enzo Life Sciences
    Recombinant Proteins from Abcam (SSH3BP1)
    Human Recombinant Proteins from Abnova (ABI1)
                   OriGene Purified Recombinant Human Proteins (see all 2): ABI1  

    5/11 Gene Ontology (GO) cellular component terms (links to tree view) (see all 11 ):

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005622 intracellular IDA17101133
    GO:0005625 soluble fraction TAS9010225
    GO:0005634 nucleus IEA--
    GO:0005737 cytoplasm IEA--
    GO:0005783 endoplasmic reticulum TAS9593709
    About this table

    Antibodies for ABI1: 
    Browse Antibodies Central at Invitrogen
    Browse Millipore's Extensive Line of Mono- and Polyclonal Antibodies
    Sigma-Aldrich Antibodies for ABI1
    Browse R&D Systems for Antibodies
    Antibodies from Abcam (SSH3BP1), each with their AbpromiseSM
    Monoclonal and Polyclonal Antibodies from Abnova (ABI1)
    Novus Biologicals Antibodies for ABI1

    Assays for ABI1: 
    Browse Invitrogen for biochemical assays
    Browse Kits and Assays available from Millipore
    Browse R&D Systems for biochemical assays
    Browse biochemical assays available from Enzo Life Sciences

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

    4 InterPro domains/families:
     IPR000727 T_SNARE
     IPR012849 Abl-interactor_HHR
     IPR000108 Neu_cyt_fact_2
     IPR001452 SH3_domain


       GeneDecks  ABI1 for the domains selected above  
    About GeneDecksing

    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 MGI Jun 06 2009, UniProtKB, IUBMB,and/or Genatlas,
    shRNA from OriGene, Sigma-Aldrich, RNAi from Sigma-Aldrich,
    RNAi Products, Clones, and Q-PCR Products from Invitrogen, Millipore, OriGene, and/or Abnova, siRNAs from Applied Biosystems, SYBR primers from OriGene, Cell-based Assays from Millipore, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
    About This Section

    Inhib.
    RNA:
    Invitrogen RNAi Products for gene knock-down (ABI1)
    Browse for Gene Knock-down Tools from Millipore
    Browse Abnova for Chimera RNAi Products
                   OriGene 29mer shRNA kit in GFP-retroviral vectors (see all 4): NM_001012750

                  Applied Biosystems Silencer® siRNAs for ABI1

                  Sigma-Aldrich siRNA for ABI1  
                         Sigma-Aldrich shRNA Panels and shRNA for ABI1  
                         Explore Sigma-Aldrich super-pooled esiRNAs  

    Clones:Invitrogen Clones for ABI1
    Browse Clones for the Expression of Recombinant Proteins Available from Millipore
                   OriGene GFP tagged cDNA clones in CMV expression vector (see all 4): NM_001012750
                                     Myc/DDK tagged cDNA clones in CMV expression vector (see all 4): NM_001012750
                                     untagged cDNA clones in CMV expression vector (see all 4): NM_001012750 

    Primers: Browse Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers
                  OriGene genome-wide validated SYBR primer pairs: NM_005470

    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 MENA.
    Recruits WASF1 to lamellipodia and there seems to regulate WASF1 protein level (By similarity)

    1 MGI phenotypic allele for Abi1 (no phenotypes)


    1 Gene Ontology (GO) molecular function term (links to tree view):

    GO IDQualified GO termEvidencePubMed IDs
    GO:0008092 cytoskeletal protein binding TAS9593709
    About this table

    (Pathways according to Invitrogen (maps by GeneGo), Millipore, Cell Signaling Technology, Sigma-Aldrich, KEGG and/or UniProtKB,
    Sets of similar genes according to GeneDecks, Proteins Network according to SABiosciences, Interactions according to 1UniProtKB, 2MINT, and/or 3STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
    About This Section

    2 Invitrogen iPath™ Online BioAtlas - Pathways for ABI1 (Maps provided by GeneGo):
     EGFR signaling via small GTPases
     FGFR signaling pathway

       GeneDecks  ABI1 for the pathways selected above  
    About GeneDecksing

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

       GeneDecks  ABI1 for the pathways selected above  
    About GeneDecksing

    2 Sigma-Aldrich "Your Favorite Gene" Pathways for  ABI1  (Your Favorite Gene powered by Ingenuity) 
     Macropinocytosis
     Ephrin Receptor Signaling

       GeneDecks  ABI1 for the pathways selected above  
    About GeneDecksing

     Gene Network CentralTM Interacting Genes and Proteins Network for  ABI1 


    5/43 Interacting proteins for ABI1 (ENSP000003475553 Q8IZP01, 2) via UniProtKB, MINT, and/or STRING (see all 43 )
    InteractantInteraction Details
    GeneCardExternal ID(s)
    BAIAP2Q9UQB81STRING (score=.936) EBI-375446, EBI-525456
    NCK1P163331STRING (score=.753) EBI-375446, EBI-389883
    WASF2Q9Y6W52STRING (score=.998) MINT-45987 MINT-45991 MINT-3390382 MINT-45984
    EPS8Q129292STRING (score=.999) MINT-15665 MINT-15663 MINT-15664
    SOS1Q078892STRING (score=.953) MINT-16552 MINT-16551
    About this table

    3 Gene Ontology (GO) biological process terms (links to tree view):

    GO IDQualified GO termEvidencePubMed IDs
    GO:0007169 transmembrane receptor protein tyrosine kinase signaling pathway TAS9010225
    GO:0008285 negative regulation of cell proliferation TAS9010225
    GO:0018108 peptidyl-tyrosine phosphorylation IDA17101133
    About this table
    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, Sigma-Aldrich, Tocris Bioscience, and/or Novoseek and Drugs according to Enzo Life Sciences and/or PharmGKB)
    About This Section

    Browse drugs & compounds from Enzo Life Sciences
    Browse Small Molecules at Sigma-Aldrich

    Browse Tocris compounds for ABI1
    6 Novoseek chemical compound relationships for ABI1 gene
    Compound   Score   Articles   PubMed IDs for Articles with Shared Sentences (# sentences)
    af 10 79.92 3 11477655 (2)
    abscisic acid 73.71 20 11208021 (6), 9090884 (4), 10488243 (2), 16571665 (1) (see all 5)
    tyrosine 41.55 9 17389688 (2), 16899465 (1), 15657136 (1), 11418237 (1) (see all 5)
    phosphoinositide 29.20 2 12515821 (1), 17389688 (1)
    proline 23.00 5 9694699 (2), 11477655 (1)
    threonine 17.22 1 11208021 (1)
    About this table


    (GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 219 Homo sapiens; Jun 2 2009) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView,
    non coding RNAs according to RNAdb,
    ESTs according to GeneTide,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from Invitrogen, Millipore, and/or Abnova,
    siRNAs from Applied Biosystems, Sigma-Aldrich,
    shRNA from Sigma-Aldrich, OriGene,
    Tagged/untagged cDNA clones from OriGene,
    Expression Assays from Applied Biosystems)
    About This Section

    Inhib.
    RNA:
    Invitrogen RNAi Products for gene knock-down (ABI1)
    Browse for Gene Knock-down Tools from Millipore
    Browse Abnova for Chimera RNAi Products
                   OriGene 29mer shRNA kit in GFP-retroviral vectors (see all 4): NM_001012750

                  Sigma-Aldrich siRNA for ABI1  
                         Sigma-Aldrich shRNA Panels and shRNA for ABI1  
                         Explore Sigma-Aldrich super-pooled esiRNAs  

    Applied Biosystems Silencer® siRNAs: 

    NM_001012750  NM_001012751  NM_001012752  NM_005470  

    REFSEQ mRNAs for ABI1 gene (4 alternative transcripts): 

    NM_001012750.1   NM_001012751.1   NM_001012752.1   NM_005470.2   

    Applied Biosystems TaqMan ® Gene Expression Assays: 

    NM_001012750  NM_001012751  NM_001012752  NM_005470  

                   OriGene GFP tagged cDNA clones in CMV expression vector (see all 4): NM_001012750
                                     Myc/DDK tagged cDNA clones in CMV expression vector (see all 4): NM_001012750
                                     untagged cDNA clones in CMV expression vector (see all 4): NM_001012750 

    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 CR622396.1 FJ380057.1 
    FJ380058.1 FJ380059.1 U87166.1 

    21 DOTS entries:

    DT.99955725  DT.101986500  DT.100827868  DT.97857274  DT.117833  DT.95295998  DT.101986503  DT.100827864 
    DT.92051985  DT.95326560  DT.121230422  DT.121230445  DT.102833994  DT.75159975  DT.95261182  DT.101970662 
    DT.100827862  DT.121230421  DT.121230461  DT.121230408  DT.97847417 

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

    AW074692 AW080248 AA731455 BU729983 AI381214 AI891112 BM715247 AF540955 
    AI678447 BF111123 BQ948892 AI699080 AW468079 AI359390 BQ773797 AW131231 
    AU280483 BP349054 CB054534 CF541195 AW193581 BI763572 AW583936 AW512180 

    highest scoring ESTs for ABI1:

    AF001628 AU100161 AW401409 AW401961 BE154550 BM752806 BM785682 AA232072 AA496772 AB040151 

    Unigene Cluster for ABI1:

    Abl-interactor 1
    Hs.508148  [show with all ESTs]
    Unigene Representative Sequence: NM_005470


    GeneLoc Exon Structure

    5/12 Alternative Splicing Database (ASD) splice patterns (SP) for ABI1 (see all 12 )

    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:                        

    About this scheme

    ECgene alternative splicing isoforms for ABI1

    13 Ensembl transcripts including schematic representations:
    ENST00000376160  ENST00000359188  ENST00000376166  ENST00000346832  ENST00000376134  ENST00000376142  
    ENST00000355394  ENST00000376138  ENST00000376140  ENST00000376139  ENST00000376170  ENST00000376135  
    ENST00000376137  
    (Experimental results according to 1GeneNote and GNF BioGPS,
    probe sets-to-genes annotations according to 2GeneAnnot , 3GeneTide , Sets of similar genes according to GeneDecks, Electronic Northern calculations according to data from UniGene (Build 219 Homo sapiens), SAGE tags according to CGAP, plus additional links to SOURCE, and/or GNF BioGPS, and/or EXPOLDB, and/or UniProtKB,
    Expression Assays from Applied Biosystems )
    About This Section

    ABI1 expression in normal and diseased human tissues

     Applied Biosystems TaqMan ® Gene Expression Assays for ABI1

    1 / 2 / 3

    6 probe-sets matching ABI1 gene


    Affymetrix
    probe-set
    Array  GeneAnnot data GeneNote data GeneTide data
    # genes Sensitivity Specificity Correlation Length Gb_Accession Consensus Uniqueness Score Rank

    38924_s_at2, 3 U95-A 1 1.00 1.00 0.98 1.16 AF001628 1.00 0.90 0.95 1

    33886_at2, 3 U95-A 1 1.00 1.00 0.97 0.84 AF006516 0.80 0.70 0.75 1

    209027_s_at2, 3 U133-A 1 1.00 1.00 -- -- BF673013 0.60 1.00 0.82 1

    209028_s_at2, 3 U133-A 1 1.00 1.00 -- -- AF006516 0.80 0.70 0.75 1

    209027_s_at2 U133Plus2 1 1.00 1.00 -- -- -- -- -- -- --

    209028_s_at2 U133Plus2 1 1.00 1.00 -- -- -- -- -- -- --
    About this table
    Data from (Publications) and GNF BioGPS
        About these images
    About these images

    CGAP SAGE TAG: CACTTTGTGT

    SOURCE GeneReport for Unigene cluster: Hs.508148

    Expression variation in blood from EXPOLDB for ABI1

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

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD and/or 5MGI Jun 06 2009, with possible further links to Flybase and/or WormBase, Gene Trees according to Ensembl)
    About This Section


    Orthologs for ABI1 gene from 5/8 species (see all 8 )
    Organism Gene Locus Description Human
    Similarity
    NCBI accessions
    dog
    (Canis familiaris)
    ABI11   -- abl-interactor 1 95.46(n)
    99.21(a)
    607247  XM_844116.1  XP_849209.1 
    chimpanzee
    (Pan troglodytes)
    ABI11   -- abl-interactor 1 99.61(n)
    99.61(a)
    450363  XM_001159512.1  XP_001159512.1 
    rat
    (Rattus norvegicus)
    Abi11   -- abl-interactor 1 92.23(n)
    98.74(a)
    79249  NM_024397.1  NP_077373.1 
    mouse
    (Mus musculus)
    Abi11, 5 2 (15.00 cM)5
    abl-interactor 11, 5 92.38(n)1
    98.34(a)1
    113081  NM_001077190.11  NP_001070658.11 
     AF4202515  AK0344765  (see all 34)
    chicken
    (Gallus gallus)
    RCJMB04_25c51   -- abl-interactor 1 86.61(n)
    96.46(a)
    420489  XM_001233768.1  XP_001233769.1 
    About this table        Species with no ortholog for ABI1

    ENSEMBL Gene Tree for ABI1
    (Paralogs according to 1HomoloGene
    and 2Ensembl, Pseudogenes according to 3Pseudogene.org)
    About This Section

    Paralogs for ABI1 gene
    ABI22  ABI32  

    (According to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, and UniProtKB, Linkage Disequilibrium by HapMap, Genotyping Reagents from Applied Biosystems)
    About This Section


    10/731 NCBI SNPs in ABI1 are shown (see all 731 )
    (Click for Applied Biosystems TaqMan ® Genotyping Assay)  (see all 226)
    ABGenomic DataTranscription DataAllele Frequencies
    SNP IDValidChr 10 posSequenceRecsAA
    Chg
    TypeMoreRecsAllele
    freq
    PopTotal
    sample
    More
    ------------
    rs14091281,2
    A,C,F,H,O27190099(-) CGGGCC/AGCCTA 4 -- ng3119Minor allele frequency- A:0.41EA NA MN EU WA 1762
    rs108290561,2
    A,C,F,H27076277(+) GCATTT/ATGATT 4 -- ut317Minor allele frequency- A:0.12NA EU EA WA 558
    rs47491941,2
    A,C,F,H27191311(+) TGAAAG/AGAAAA 4 -- ng31 trp37Minor allele frequency- A:0.05EU EA WA NA 530
    rs20315621,2
    A,C,F,H27190879(-) taattC/Tgatcc 4 -- ng314Minor allele frequency- T:0.34EU EA WA 404
    rs23062361,2
    C,F,H27088083(+) ATCCAC/GCAGAA 4 G/A mis1 ese313Minor allele frequency- G:0.01EA EU WA 2726
    rs110152731,2
    C,H27094253(+) CTTCCA/CCTGAA 4 S/R mis14Minor allele frequency- C:0.00EU EA WA 418
    rs70868471,2
    F,H27077502(+) AAAAAA/GAATTA 4 -- ut31 trp34Minor allele frequency- G:0.01EU EA WA 404
    rs14091271,2
    F,H27190243(-) TATCAC/TCCTGT 4 -- ng31 tfbs38Minor allele frequency- T:0.01EA NA MN EU WA 654
    --
    rs32158111,2
    C,F27190043(-) AAAAA-/ATCCCG 4 -- ng31 trp32Minor allele frequency- A:0.34MN EA 356
    --
    rs96455281,2
    A27191945(+) GGAAGC/GGGGAG 4 -- ng310--------
    About this table

    HapMap Linkage Disequilibrium images for ABI1 (up to first 250kb)

    (in which this Gene is Involved, According to OMIM, UniProtKB, Novoseek, PharmGKB, Genatlas, GeneTests, Blood group antigen gene mutations by BGMUT, HGMD, GAD, HuGE Navigator, BCGD, and/or TGDB.)
    About This Section

    OMIM: 603050

    UniProtKB/Swiss-Prot: ABI1_HUMAN, Q8IZP0
  • 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
  • 2 Novoseek disease relationships for ABI1 gene

    Disease   Score   Articles   PubMed IDs for Articles with Shared Sentences (# sentences)
    leukemogenesis 63.34 1 9694699 (1)
    leukemia 21.29 5 11477655 (2), 12547160 (1)
    About this table

    (Possibly Related Articles in Doctor's Guide)
    About This Section

      --

    (in PubMed. Associations of this gene to articles via 1Novoseek, 2HGNC, 3Entrez Gene, 4UniProtKB/Swiss-Prot, 5UniProtKB/TrEMBL, 6GAD, and/or 7PharmGKB)
    About This Section

    10/66 PubMed articles for ABI1 gene (see all 66 ):
    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section

     ANDOR
    Aliases
    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, 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 ATLAS, HORDE, IMGT, MTDB, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section

    NameDescription
    ATLAS Chromosomes in Cancer entry for ABI1 Genetics and Cytogenetics in Oncology and Haematology
    (Available from WIS Yeda, Salk, Tufts)
    About This Section

      --
    (Reagents available from Applied Biosystems, Antibodies and assays by Cell Signaling Technology, Abcam, Novus Biologicals,
    Sigma-Aldrich, R&D Systems, Millipore, Abnova, and/or Invitrogen, Clones available from OriGene,and/or Invitrogen, Drugs and/or compounds by Sigma-Aldrich,
    Enzo Life Sciences, and/or Tocris Bioscience)
    About This Section



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     Antibodies for ABI1

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