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    ABI1 abl-interactor 1 [ Homo sapiens (human) ]

    Gene ID: 10006, updated on 14-May-2013
    Official Symbol
    ABI1provided by HGNC
    Official Full Name
    abl-interactor 1provided by HGNC
    Primary source
    HGNC:11320
    Locus tag
    RP13-16H11.4
    See related
    Ensembl:ENSG00000136754; HPRD:04336; MIM:603050; Vega:OTTHUMG00000017848
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    E3B1; ABI-1; ABLBP4; NAP1BP; SSH3BP; SSH3BP1
    Summary
    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]
    Location :
    10p11.2
    Sequence :
    Chromosome: 10; NC_000010.10 (27035525..27150016, complement)
    See ABI1 in Epigenomics, MapViewer

    Chromosome 10 - NC_000010.10Genomic Context describing neighboring genes Neighboring gene long intergenic non-protein coding RNA 202-2 Neighboring gene prenyl (decaprenyl) diphosphate synthase, subunit 1 Neighboring gene heat shock 70kDa protein 8 pseudogene 3 Neighboring gene long intergenic non-protein coding RNA 202-1 Neighboring gene ankyrin repeat domain 26

    GeneRIFs: Gene References Into Functions What's a GeneRIF?

    Products Interactant Other Gene Complex Source Pubs Description
    AAN28379.1 NP_000256.1 NCF1C    BIND  PubMed ABI-1 interacts with p47phox. 
    BAB55675.1 ABL1    BIND  PubMed hNap1BP interacts with Abl. 
    BAB55675.1 NP_038464.1 NCKAP1    BIND  PubMed Nap1 interacts with hNap1BP. 
    NP_005461.1 DNM2    BIND  PubMed An unspecified isoform of Dyn2 interacts with Abi-1. This interaction was modeled on a demonstrated interaction between human Dyn2 and Abi-1 from an unspecified species. 
    Q8IZP0 Q8IZP0 ABI1    HPRD  PubMed  
    Q8IZP0 P00519 ABL1    HPRD  PubMed  
    Q8IZP0 Q96F07 CYFIP2    HPRD  PubMed  
    Q8IZP0 Q8N8S7 ENAH    HPRD  PubMed  
    Q8IZP0 Q12929 EPS8    HPRD  PubMed  
    Q8IZP0 Q8TE68 EPS8L1    HPRD  PubMed  
    Q8IZP0 Q9UI08 EVL    HPRD  PubMed  
    Q8IZP0 P11142 HSPA8    HPRD  PubMed  
    Q8IZP0 Q8N4C8 MINK1    HPRD  PubMed  
    Q8IZP0 P14598 NCF1    HPRD  PubMed  
    Q8IZP0 P16333 NCK1    HPRD  PubMed  
    Q8IZP0 O43639 NCK2    HPRD  PubMed  
    Q8IZP0 Q9Y2A7 NCKAP1    HPRD  PubMed  
    Q8IZP0 P20929 NEB    HPRD  PubMed  
    Q8IZP0 Q8N4C6 NIN    HPRD  PubMed  
    Q8IZP0 Q13177 PAK2    HPRD  PubMed  
    Q8IZP0 Q07889 SOS1    HPRD  PubMed  
    Q8IZP0 Q07890 SOS2    HPRD  PubMed  
    Q8IZP0 P02549 SPTA1    HPRD  PubMed  
    Q8IZP0 Q13813 SPTAN1    HPRD  PubMed  
    Q8IZP0 P50552 VASP    HPRD  PubMed  
    Q8IZP0 Q92558 WASF1    HPRD  PubMed  
    Q8IZP0 Q8IV90 WASF2    HPRD  PubMed  
    BioGRID:115324 BioGRID:106543 ABL1    BioGRID  PubMed Affinity Capture-Western; Reconstituted Complex 
    BioGRID:115324 BioGRID:106819 APBB1    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:115324 BioGRID:107227 CACNA1A    BioGRID  PubMed Affinity Capture-Western; Two-hybrid 
    BioGRID:115324 BioGRID:107315 CBL    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:115324 BioGRID:114392 CDC123    BioGRID  PubMed Co-fractionation 
    BioGRID:115324 BioGRID:108332 CTTN    BioGRID  PubMed Co-fractionation 
    BioGRID:115324 BioGRID:120858 ENAH    BioGRID  PubMed Reconstituted Complex; Two-hybrid 
    BioGRID:115324 BioGRID:108373 EPS8    BioGRID  PubMed Affinity Capture-Western; Reconstituted Complex 
    BioGRID:115324 BioGRID:120218 EPS8L1    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:115324 BioGRID:122297 EPS8L2    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:115324 BioGRID:122721 EPS8L3    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:115324 BioGRID:114094 GAS7    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:115324 BioGRID:110770 NCK1    BioGRID  PubMed Affinity Capture-Western; Reconstituted Complex 
    BioGRID:115324 BioGRID:114020 NCK2    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:115324 BioGRID:116003 NCKAP1    BioGRID  PubMed Affinity Capture-Western; Two-hybrid 
    BioGRID:115324 BioGRID:111313 PIK3R1    BioGRID  PubMed Affinity Capture-Western; Protein-peptide 
    BioGRID:115324 BioGRID:111549 PRKAA1    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:115324 BioGRID:120792 PRPF40A    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:115324 BioGRID:112171 RYK    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:115324 BioGRID:112537 SOS1    BioGRID  PubMed Affinity Capture-Western; Reconstituted Complex 
    BioGRID:115324 BioGRID:115544 SRRM1    BioGRID  PubMed Two-hybrid 
    BioGRID:115324 BioGRID:116120 TCERG1    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:115324 BioGRID:113164 UBC    BioGRID  PubMed Affinity Capture-MS 

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    cytoskeletal protein binding TAS
    Traceable Author Statement
    more info
    PubMed 
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    protein tyrosine kinase activator activity IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    cell junction IEA
    Inferred from Electronic Annotation
    more info
     
    cytoskeleton IEA
    Inferred from Electronic Annotation
    more info
     
    cytosol TAS
    Traceable Author Statement
    more info
     
    endoplasmic reticulum TAS
    Traceable Author Statement
    more info
    PubMed 
    filopodium IDA
    Inferred from Direct Assay
    more info
    PubMed 
    growth cone IEA
    Inferred from Electronic Annotation
    more info
     
    intracellular IDA
    Inferred from Direct Assay
    more info
    PubMed 
    lamellipodium IDA
    Inferred from Direct Assay
    more info
    PubMed 
    nucleus IEA
    Inferred from Electronic Annotation
    more info
     
    synapse IEA
    Inferred from Electronic Annotation
    more info
     
    Preferred Names
    abl interactor 1
    Names
    abl interactor 1
    Abelson interactor 1
    nap1 binding protein
    abl-binding protein 4
    interactor protein AblBP4
    Abl-interactor protein 1 long
    eps8 SH3 domain-binding protein
    spectrin SH3 domain-binding protein 1

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_030025.1 RefSeqGene

      Range
      5001..119492
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001012750.2NP_001012768.1  abl interactor 1 isoform b

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks an alternate in-frame coding exon, compared to variant 1. The resulting protein (isoform b) has the same N- and C-termini but is shorter compared to isoform a.
      Source sequence(s)
      AB040151, AF006516, AL390961, DB019974
      Consensus CDS
      CCDS31171.1
      UniProtKB/Swiss-Prot
      Q8IZP0
      Conserved Domains (2) summary
      cd11971
      Location:423481
      Blast Score: 337
      SH3_Abi1; Src homology 3 domain of Abl Interactor 1
      pfam07815
      Location:93171
      Blast Score: 339
      Abi_HHR; Abl-interactor HHR
    2. NM_001012751.2NP_001012769.1  abl interactor 1 isoform c

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) lacks two alternate in-frame coding exons, compared to variant 1. The resulting protein (isoform c) has the same N- and C-termini but is shorter compared to isoform a.
      Source sequence(s)
      AB040151, AL390961, DB019974
      Consensus CDS
      CCDS31170.1
      UniProtKB/Swiss-Prot
      Q8IZP0
      Related
      ENSP00000365308, OTTHUMP00000019348, ENST00000376138, OTTHUMT00000047283
      Conserved Domains (2) summary
      cd11971
      Location:394452
      Blast Score: 336
      SH3_Abi1; Src homology 3 domain of Abl Interactor 1
      pfam07815
      Location:93171
      Blast Score: 338
      Abi_HHR; Abl-interactor HHR
    3. NM_001012752.2NP_001012770.1  abl interactor 1 isoform d

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) lacks two alternate in-frame coding exons, compared to variant 1. The resulting protein (isoform d) has the same N- and C-termini but is shorter compared to isoform a.
      Source sequence(s)
      AB040151, AL390961, BC024254, DB019974
      Consensus CDS
      CCDS31169.1
      UniProtKB/Swiss-Prot
      Q8IZP0
      Related
      ENSP00000365309, OTTHUMP00000019355, ENST00000376139, OTTHUMT00000047291
      Conserved Domains (2) summary
      cd11971
      Location:418476
      Blast Score: 337
      SH3_Abi1; Src homology 3 domain of Abl Interactor 1
      pfam07815
      Location:93166
      Blast Score: 316
      Abi_HHR; Abl-interactor HHR
    4. NM_001178116.1NP_001171587.1  abl interactor 1 isoform e

      Status: REVIEWED

      Description
      Transcript Variant: This variant (5) contains one alternate exon and lacks a different in-frame coding exon, compared to variant 1. The resulting protein (isoform e) has the same N- and C-termini but is shorter when it is compared to isoform a.
      Source sequence(s)
      AK126803, AL390961, DB019974
      Consensus CDS
      CCDS53501.1
      UniProtKB/Swiss-Prot
      Q8IZP0
      Related
      ENSP00000279599, ENST00000346832
      Conserved Domains (2) summary
      pfam07815
      Location:110188
      Blast Score: 342
      Abi_HHR; Abl-interactor HHR
      cd11971
      Location:438496
      Blast Score: 338
      SH3_Abi1; Src homology 3 domain of Abl Interactor 1
    5. NM_001178119.1NP_001171590.1  abl interactor 1 isoform f

      Status: REVIEWED

      Description
      Transcript Variant: This variant (6) lacks an alternate in-frame coding exon and uses a different splice site, compared to variant 1. The resulting protein (isoform f) has the same N- and C-termini but is shorter when it is compared to isoform a.
      Source sequence(s)
      AB040151, AF006516, AL390961, DB019974
      Consensus CDS
      CCDS53500.1
      UniProtKB/Swiss-Prot
      Q8IZP0
      Related
      ENSP00000352114, OTTHUMP00000019354, ENST00000359188, OTTHUMT00000047289
      Conserved Domains (2) summary
      cd11971
      Location:422480
      Blast Score: 333
      SH3_Abi1; Src homology 3 domain of Abl Interactor 1
      pfam07815
      Location:93171
      Blast Score: 341
      Abi_HHR; Abl-interactor HHR
    6. NM_001178120.1NP_001171591.1  abl interactor 1 isoform g

      Status: REVIEWED

      Description
      Transcript Variant: This variant (7) lacks two alternate in-frame coding exons and uses a different splice site, compared to variant 1. The resulting protein (isoform g) has the same N- and C-termini but is shorter when it is compared to isoform a.
      Source sequence(s)
      AB040151, AF001628, AL390961, DB019974
      Consensus CDS
      CCDS53499.1
      UniProtKB/Swiss-Prot
      Q8IZP0
      Related
      ENSP00000365340, OTTHUMP00000019349, ENST00000376170, OTTHUMT00000047284
      Conserved Domains (2) summary
      cd11971
      Location:393451
      Blast Score: 332
      SH3_Abi1; Src homology 3 domain of Abl Interactor 1
      pfam07815
      Location:93171
      Blast Score: 340
      Abi_HHR; Abl-interactor HHR
    7. NM_001178121.1NP_001171592.1  abl interactor 1 isoform h

      Status: REVIEWED

      Description
      Transcript Variant: This variant (8) lacks three alternate in-frame coding exons and uses a different splice site, compared to variant 1. The resulting protein (isoform h) has the same N- and C-termini but is shorter when it is compared to isoform a. This isoform has also been called the 'long' isoform.
      Source sequence(s)
      AB040151, AF260262, AK291823, AL390961, DB019974
      Consensus CDS
      CCDS53498.1
      UniProtKB/Swiss-Prot
      Q8IZP0
      Related
      ENSP00000365336, OTTHUMP00000019350, ENST00000376166, OTTHUMT00000047285
      Conserved Domains (2) summary
      cd11971
      Location:388446
      Blast Score: 332
      SH3_Abi1; Src homology 3 domain of Abl Interactor 1
      pfam07815
      Location:93166
      Blast Score: 317
      Abi_HHR; Abl-interactor HHR
    8. NM_001178122.1NP_001171593.1  abl interactor 1 isoform i

      Status: REVIEWED

      Description
      Transcript Variant: This variant (9) lacks two alternate in-frame coding exons, compared to variant 1. The resulting protein (isoform i) has the same N- and C-termini but is shorter when it is compared to isoform a. This isoform has also been called 'variant 41'.
      Source sequence(s)
      AB040151, AL390961, DB019974, FJ380057
      UniProtKB/TrEMBL
      B6VEX3
      UniProtKB/Swiss-Prot
      Q8IZP0
      Related
      ENSP00000365307, ENST00000376137
      Conserved Domains (2) summary
      cd11971
      Location:364422
      Blast Score: 331
      SH3_Abi1; Src homology 3 domain of Abl Interactor 1
      pfam07815
      Location:93171
      Blast Score: 342
      Abi_HHR; Abl-interactor HHR
    9. NM_001178123.1NP_001171594.1  abl interactor 1 isoform j

      Status: REVIEWED

      Description
      Transcript Variant: This variant (10) lacks three alternate in-frame coding exons, compared to variant 1. The resulting protein (isoform j) has the same N- and C-termini but is shorter when it is compared to isoform a. This isoform has also been called 'variant 21'.
      Source sequence(s)
      AB040151, AL390961, DB019974, FJ380058
      UniProtKB/TrEMBL
      B6VEX4
      UniProtKB/Swiss-Prot
      Q8IZP0
      Conserved Domains (2) summary
      cd11971
      Location:335393
      Blast Score: 332
      SH3_Abi1; Src homology 3 domain of Abl Interactor 1
      pfam07815
      Location:93171
      Blast Score: 340
      Abi_HHR; Abl-interactor HHR
    10. NM_001178124.1NP_001171595.1  abl interactor 1 isoform k

      Status: REVIEWED

      Description
      Transcript Variant: This variant (11) lacks three alternate in-frame coding exons, compared to variant 1. The resulting protein (isoform k) has the same N- and C-termini but is shorter when it is compared to isoform a. This isoform has also been called 'variant 72'.
      Source sequence(s)
      AB040151, AL390961, DB019974, FJ380059
      UniProtKB/TrEMBL
      B6VEX5
      UniProtKB/Swiss-Prot
      Q8IZP0
      Related
      ENSP00000439646, ENST00000536334
      Conserved Domains (2) summary
      cd11971
      Location:330388
      Blast Score: 332
      SH3_Abi1; Src homology 3 domain of Abl Interactor 1
      pfam07815
      Location:93166
      Blast Score: 317
      Abi_HHR; Abl-interactor HHR
    11. NM_001178125.1NP_001171596.1  abl interactor 1 isoform l

      Status: REVIEWED

      Description
      Transcript Variant: This variant (12) lacks five alternate in-frame coding exons, compared to variant 1. The resulting protein (isoform l) has the same N- and C-termini but is shorter when it is compared to isoform a.
      Source sequence(s)
      AK298646, AL390961, DB019974
      Consensus CDS
      CCDS53497.1
      UniProtKB/Swiss-Prot
      Q8IZP0
      Related
      ENSP00000440101, ENST00000490841
      Conserved Domains (1) summary
      cd11971
      Location:271329
      Blast Score: 333
      SH3_Abi1; Src homology 3 domain of Abl Interactor 1
    12. NM_005470.3NP_005461.2  abl interactor 1 isoform a

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest protein (isoform a).
      Source sequence(s)
      AB040151, AL390961, DB019974, U87166
      Consensus CDS
      CCDS7150.1
      UniProtKB/Swiss-Prot
      Q8IZP0
      Related
      ENSP00000365312, OTTHUMP00000019352, ENST00000376142, OTTHUMT00000047287
      Conserved Domains (2) summary
      pfam07815
      Location:93171
      Blast Score: 340
      Abi_HHR; Abl-interactor HHR
      cd11971
      Location:450508
      Blast Score: 336
      SH3_Abi1; Src homology 3 domain of Abl Interactor 1

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 104

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh37.p10 Primary Assembly

    Genomic

    1. NC_000010.10 Reference GRCh37.p10 Primary Assembly

      Range
      27035525..27150016, complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate HuRef

    Genomic

    1. AC_000142.1 Alternate HuRef

      Range
      26695811..26810376, complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate CHM1_1.0

    Genomic

    1. NC_018921.1 Alternate CHM1_1.0

      Range
      26942089..27056715, complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

      Supplemental Content

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