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    ABI1 abl interactor 1 [ Homo sapiens (human) ]

    Gene ID: 10006, updated on 23-Nov-2021

    Summary

    Official Symbol
    ABI1provided by HGNC
    Official Full Name
    abl interactor 1provided by HGNC
    Primary source
    HGNC:HGNC:11320
    See related
    Ensembl:ENSG00000136754 MIM:603050
    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]
    Expression
    Ubiquitous expression in bone marrow (RPKM 23.2), esophagus (RPKM 19.6) and 25 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See ABI1 in Genome Data Viewer
    Location:
    10p12.1
    Exon count:
    15
    Annotation release Status Assembly Chr Location
    109.20211119 current GRCh38.p13 (GCF_000001405.39) 10 NC_000010.11 (26746596..26860986, complement)
    105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (27035525..27149887, complement)

    Chromosome 10 - NC_000010.11Genomic Context describing neighboring genes Neighboring gene selenoprotein O like, pseudogene Neighboring gene decaprenyl diphosphate synthase subunit 1 Neighboring gene heat shock protein family A (Hsp70) member 8 pseudogene 3 Neighboring gene RNA, U6 small nuclear 946, pseudogene Neighboring gene family with sequence similarity 238 member C Neighboring gene ankyrin repeat domain 26 Neighboring gene RNA, U6 small nuclear 490, pseudogene

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables SH3 domain binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    enables SH3 domain binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables cadherin binding HDA PubMed 
    enables cytoskeletal protein binding TAS
    Traceable Author Statement
    more info
    PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables protein tyrosine kinase activator activity ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    enables signaling adaptor activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables signaling adaptor activity ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    Component Evidence Code Pubs
    part_of SCAR complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in cytoskeleton IEA
    Inferred from Electronic Annotation
    more info
     
    located_in cytosol TAS
    Traceable Author Statement
    more info
     
    located_in endoplasmic reticulum TAS
    Traceable Author Statement
    more info
    PubMed 
    located_in extracellular exosome HDA PubMed 
    located_in filopodium tip IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in growth cone IEA
    Inferred from Electronic Annotation
    more info
     
    is_active_in intracellular anatomical structure IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    is_active_in lamellipodium IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    located_in lamellipodium IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in nucleus IEA
    Inferred from Electronic Annotation
    more info
     
    located_in postsynaptic density IEA
    Inferred from Electronic Annotation
    more info
     

    General protein information

    Preferred Names
    abl interactor 1
    Names
    Abelson interactor 1
    Abl-interactor protein 1 long
    abl-binding protein 4
    eps8 SH3 domain-binding protein
    interactor protein AblBP4
    nap1 binding protein
    spectrin SH3 domain-binding protein 1

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_001012750.3NP_001012768.1  abl interactor 1 isoform b

      See identical proteins and their annotated locations for NP_001012768.1

      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
      Consensus CDS
      CCDS31171.1
      UniProtKB/Swiss-Prot
      Q8IZP0
      Related
      ENSP00000365310.3, ENST00000376140.4
      Conserved Domains (2) summary
      cd11971
      Location:423481
      SH3_Abi1; Src homology 3 domain of Abl Interactor 1
      pfam07815
      Location:93156
      Abi_HHR; Abl-interactor HHR
    2. NM_001012751.3NP_001012769.1  abl interactor 1 isoform c

      See identical proteins and their annotated locations for NP_001012769.1

      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
      Consensus CDS
      CCDS31170.1
      UniProtKB/Swiss-Prot
      Q8IZP0
      Related
      ENSP00000365308.3, ENST00000376138.7
      Conserved Domains (2) summary
      cd11971
      Location:394452
      SH3_Abi1; Src homology 3 domain of Abl Interactor 1
      pfam07815
      Location:93156
      Abi_HHR; Abl-interactor HHR
    3. NM_001012752.3NP_001012770.1  abl interactor 1 isoform d

      See identical proteins and their annotated locations for NP_001012770.1

      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
      Consensus CDS
      CCDS31169.1
      UniProtKB/Swiss-Prot
      Q8IZP0
      Related
      ENSP00000365309.2, ENST00000376139.6
      Conserved Domains (2) summary
      cd11971
      Location:418476
      SH3_Abi1; Src homology 3 domain of Abl Interactor 1
      pfam07815
      Location:93154
      Abi_HHR; Abl-interactor HHR
    4. NM_001178116.2NP_001171587.1  abl interactor 1 isoform e

      See identical proteins and their annotated locations for NP_001171587.1

      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
      Consensus CDS
      CCDS53501.1
      UniProtKB/Swiss-Prot
      Q8IZP0
      Related
      ENSP00000279599.8, ENST00000346832.10
      Conserved Domains (2) summary
      cd11971
      Location:438496
      SH3_Abi1; Src homology 3 domain of Abl Interactor 1
      pfam07815
      Location:110186
      Abi_HHR; Abl-interactor HHR
    5. NM_001178119.2NP_001171590.1  abl interactor 1 isoform f

      See identical proteins and their annotated locations for NP_001171590.1

      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
      Consensus CDS
      CCDS53500.1
      UniProtKB/Swiss-Prot
      Q8IZP0
      Related
      ENSP00000352114.4, ENST00000359188.8
      Conserved Domains (2) summary
      cd11971
      Location:422480
      SH3_Abi1; Src homology 3 domain of Abl Interactor 1
      pfam07815
      Location:93156
      Abi_HHR; Abl-interactor HHR
    6. NM_001178120.2NP_001171591.1  abl interactor 1 isoform g

      See identical proteins and their annotated locations for NP_001171591.1

      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
      Consensus CDS
      CCDS53499.1
      UniProtKB/Swiss-Prot
      Q8IZP0
      Related
      ENSP00000365340.4, ENST00000376170.8
      Conserved Domains (2) summary
      cd11971
      Location:393451
      SH3_Abi1; Src homology 3 domain of Abl Interactor 1
      pfam07815
      Location:93156
      Abi_HHR; Abl-interactor HHR
    7. NM_001178121.2NP_001171592.1  abl interactor 1 isoform h

      See identical proteins and their annotated locations for NP_001171592.1

      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
      Consensus CDS
      CCDS53498.1
      UniProtKB/Swiss-Prot
      Q8IZP0
      Related
      ENSP00000365336.1, ENST00000376166.5
      Conserved Domains (2) summary
      cd11971
      Location:388446
      SH3_Abi1; Src homology 3 domain of Abl Interactor 1
      pfam07815
      Location:93154
      Abi_HHR; Abl-interactor HHR
    8. NM_001178122.2NP_001171593.1  abl interactor 1 isoform i

      See identical proteins and their annotated locations for NP_001171593.1

      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, FJ380057
      Consensus CDS
      CCDS73078.1
      UniProtKB/Swiss-Prot
      Q8IZP0
      UniProtKB/TrEMBL
      B6VEX3
      Related
      ENSP00000365307.5, ENST00000376137.8
      Conserved Domains (2) summary
      cd11971
      Location:364422
      SH3_Abi1; Src homology 3 domain of Abl Interactor 1
      pfam07815
      Location:93156
      Abi_HHR; Abl-interactor HHR
    9. NM_001178123.2NP_001171594.1  abl interactor 1 isoform j

      See identical proteins and their annotated locations for NP_001171594.1

      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, FJ380058
      Consensus CDS
      CCDS73077.1
      UniProtKB/Swiss-Prot
      Q8IZP0
      UniProtKB/TrEMBL
      B6VEX4
      Related
      ENSP00000439646.2, ENST00000536334.5
      Conserved Domains (2) summary
      cd11971
      Location:335393
      SH3_Abi1; Src homology 3 domain of Abl Interactor 1
      pfam07815
      Location:93156
      Abi_HHR; Abl-interactor HHR
    10. NM_001178124.2NP_001171595.1  abl interactor 1 isoform k

      See identical proteins and their annotated locations for NP_001171595.1

      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, FJ380059
      UniProtKB/Swiss-Prot
      Q8IZP0
      UniProtKB/TrEMBL
      B6VEX5
      Conserved Domains (2) summary
      cd11971
      Location:330388
      SH3_Abi1; Src homology 3 domain of Abl Interactor 1
      pfam07815
      Location:93154
      Abi_HHR; Abl-interactor HHR
    11. NM_001178125.2NP_001171596.1  abl interactor 1 isoform l

      See identical proteins and their annotated locations for NP_001171596.1

      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
      Consensus CDS
      CCDS53497.1
      UniProtKB/Swiss-Prot
      Q8IZP0
      Related
      ENSP00000440101.1, ENST00000490841.6
      Conserved Domains (1) summary
      cd11971
      Location:271329
      SH3_Abi1; Src homology 3 domain of Abl Interactor 1
    12. NM_001348029.2NP_001334958.1  abl interactor 1 isoform m

      Status: REVIEWED

      Source sequence(s)
      AL139404, AL390961
      Conserved Domains (2) summary
      cd11971
      Location:449507
      SH3_Abi1; Src homology 3 domain of Abl Interactor 1
      pfam07815
      Location:93156
      Abi_HHR; Abl-interactor HHR
    13. NM_001348030.2NP_001334959.1  abl interactor 1 isoform n

      Status: REVIEWED

      Source sequence(s)
      AL139404, AL390961
      Conserved Domains (2) summary
      cd11971
      Location:389447
      SH3_Abi1; Src homology 3 domain of Abl Interactor 1
      pfam07815
      Location:93154
      Abi_HHR; Abl-interactor HHR
    14. NM_001348031.2NP_001334960.1  abl interactor 1 isoform o

      Status: REVIEWED

      Source sequence(s)
      AL139404, AL390961
      Conserved Domains (2) summary
      cd11971
      Location:362420
      SH3_Abi1; Src homology 3 domain of Abl Interactor 1
      pfam07815
      Location:93156
      Abi_HHR; Abl-interactor HHR
    15. NM_001348032.2NP_001334961.1  abl interactor 1 isoform p

      Status: REVIEWED

      Source sequence(s)
      AL139404, AL390961
      Conserved Domains (2) summary
      cd11971
      Location:421479
      SH3_Abi1; Src homology 3 domain of Abl Interactor 1
      pfam07815
      Location:93156
      Abi_HHR; Abl-interactor HHR
    16. NM_001348033.2NP_001334962.1  abl interactor 1 isoform q

      Status: REVIEWED

      Source sequence(s)
      AL139404, AL390961
      Conserved Domains (2) summary
      cd11971
      Location:420478
      SH3_Abi1; Src homology 3 domain of Abl Interactor 1
      pfam07815
      Location:93156
      Abi_HHR; Abl-interactor HHR
    17. NM_001348034.2NP_001334963.1  abl interactor 1 isoform r

      Status: REVIEWED

      Source sequence(s)
      AL139404, AL390961
      Conserved Domains (2) summary
      cd11971
      Location:391449
      SH3_Abi1; Src homology 3 domain of Abl Interactor 1
      pfam07815
      Location:93169
      Abi_HHR; Abl-interactor HHR
    18. NM_005470.4NP_005461.2  abl interactor 1 isoform a

      See identical proteins and their annotated locations for NP_005461.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest protein (isoform a).
      Source sequence(s)
      AB040151, AL390961, U87166
      Consensus CDS
      CCDS7150.1
      UniProtKB/Swiss-Prot
      Q8IZP0
      Related
      ENSP00000365312.2, ENST00000376142.6
      Conserved Domains (2) summary
      cd11971
      Location:450508
      SH3_Abi1; Src homology 3 domain of Abl Interactor 1
      pfam07815
      Location:93156
      Abi_HHR; Abl-interactor HHR

    RNA

    1. NR_145410.2 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AL139404, AL390961

    RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20211119

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

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000010.11 Reference GRCh38.p13 Primary Assembly

      Range
      26746596..26860986 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_005252333.4XP_005252390.1  abl interactor 1 isoform X2

      See identical proteins and their annotated locations for XP_005252390.1

      UniProtKB/TrEMBL
      A0A0A0MRT6
      Related
      ENSP00000365330.1, ENST00000376160.5
      Conserved Domains (2) summary
      cd11971
      Location:417475
      SH3_Abi1; Src homology 3 domain of Abl Interactor 1
      pfam07815
      Location:93154
      Abi_HHR; Abl-interactor HHR
    2. XM_005252332.4XP_005252389.1  abl interactor 1 isoform X1

      See identical proteins and their annotated locations for XP_005252389.1

      Conserved Domains (2) summary
      cd11971
      Location:445503
      SH3_Abi1; Src homology 3 domain of Abl Interactor 1
      pfam07815
      Location:93154
      Abi_HHR; Abl-interactor HHR
    3. XM_011519289.2XP_011517591.1  abl interactor 1 isoform X3

      Conserved Domains (1) summary
      pfam07815
      Location:93169
      Abi_HHR; Abl-interactor HHR
    4. XM_017015459.1XP_016870948.1  abl interactor 1 isoform X4

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