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    Abi1 abl interactor 1 [ Mus musculus (house mouse) ]

    Gene ID: 11308, updated on 2-Nov-2024

    Summary

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    Official Symbol
    Abi1provided by MGI
    Official Full Name
    abl interactor 1provided by MGI
    Primary source
    MGI:MGI:104913
    See related
    Ensembl:ENSMUSG00000058835 AllianceGenome:MGI:104913
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    E3B1; NAP1; abi-1; Ssh3bp1
    Summary
    Enables protein tyrosine kinase activator activity and signaling adaptor activity. Acts upstream of or within megakaryocyte development; plasma membrane bounded cell projection morphogenesis; and somitogenesis. Located in lamellipodium and neuron projection. Part of SCAR complex. Is expressed in several structures, including alimentary system; brain; eye; genitourinary system; and hemolymphoid system gland. Orthologous to human ABI1 (abl interactor 1). [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Ubiquitous expression in bladder adult (RPKM 20.0), cortex adult (RPKM 19.0) and 28 other tissues See more
    Orthologs
    human all
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    Genomic context

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    See Abi1 in Genome Data Viewer
    Location:
    2 A3; 2 15.18 cM
    Exon count:
    11
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 2 NC_000068.8 (22830085..22930207, complement)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 2 NC_000068.7 (22940073..23040241, complement)

    Chromosome 2 - NC_000068.8Genomic Context describing neighboring genes Neighboring gene amyloid beta precursor protein binding family B member 1 interacting protein Neighboring gene STARR-seq mESC enhancer starr_03920 Neighboring gene STARR-seq mESC enhancer starr_03922 Neighboring gene predicted gene, 52503 Neighboring gene prenyl (solanesyl) diphosphate synthase, subunit 1 Neighboring gene ribosomal protein L17 pseudogene Neighboring gene STARR-seq mESC enhancer starr_03923 Neighboring gene STARR-positive B cell enhancer mm9_chr2:22895642-22895943 Neighboring gene STARR-positive B cell enhancer mm9_chr2:22896813-22897114 Neighboring gene predicted gene, 52502 Neighboring gene STARR-seq mESC enhancer starr_03925 Neighboring gene STARR-positive B cell enhancer ABC_E2030 Neighboring gene STARR-positive B cell enhancer ABC_E3360 Neighboring gene acyl-Coenzyme A binding domain containing 5 Neighboring gene STARR-positive B cell enhancer ABC_E2602 Neighboring gene microtubule associated serine/threonine kinase-like

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: Mouse ENCODE transcriptome data Mouse ENCODE transcriptome data
    • Description: RNA profiling data sets generated by the Mouse ENCODE project.
    • BioProject: PRJNA66167
    • Publication: PMID 25409824
    • Analysis date: n/a

    Bibliography

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    Related articles in PubMed

    1. Inhibition of v-Abl transformation in 3T3 cells overexpressing different forms of the Abelson interactor protein Abi-1. Ikeguchi A, et al. Oncogene, 2001 Aug 16. PMID 11526477
    2. t(10;11)-acute leukemias with MLL-AF10 and MLL-ABI1 chimeric transcripts: specific expression patterns of ABI1 gene in leukemia and solid tumor cell lines. Shibuya N, et al. Genes Chromosomes Cancer, 2001 Sep. PMID 11477655
    3. Abi1 mediates airway smooth muscle cell proliferation and airway remodeling via Jak2/STAT3 signaling. Wang R, et al. iScience, 2022 Feb 18. PMID 35198891, Free PMC Article
    4. Disruption of Abi1/Hssh3bp1 expression induces prostatic intraepithelial neoplasia in the conditional Abi1/Hssh3bp1 KO mice. Xiong X, et al. Oncogenesis, 2012 Sep 3. PMID 23552839, Free PMC Article
    5. Tyrosine phosphorylation in the SH3 domain disrupts negative regulatory interactions within the c-Abl kinase core. Chen S, et al. J Mol Biol, 2008 Nov 7. PMID 18775435, Free PMC Article

    See all (81) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. CRISPR/CAS9-mediated knockout of Abi1 inhibits p185(Bcr-Abl)-induced leukemogenesis and signal transduction to ERK and PI3K/Akt pathways.
      Title: CRISPR/CAS9-mediated knockout of Abi1 inhibits p185(Bcr-Abl)-induced leukemogenesis and signal transduction to ERK and PI3K/Akt pathways.
    2. Wave complex proteins ABI1 and Wave2 have key roles in regulating signals that control epidermal shape and growth by suppressing Wnt-Sox9 signaling.
      Title: The Wave complex controls epidermal morphogenesis and proliferation by suppressing Wnt-Sox9 signaling.
    3. This study shows that bone marrow-specific deletion of Abi1 in a novel mouse model leads to development of an myeloproliferative neoplasms-like phenotype resembling human primary myelofibrosis. Abi1 loss resulted in a significant increase in the activity of the Src family kinases (SFKs), STAT3, and NF-kappaB signaling.
      Title: Bone marrow-specific loss of ABI1 induces myeloproliferative neoplasm with features resembling human myelofibrosis.
    4. The expression of NESH/Abi-3 caused degradation of endogenous Abi-1, which led to the formation of a NESH/Abi-3-based WAVE2 complex.
      Title: The NESH/Abi-3-based WAVE2 complex is functionally distinct from the Abi-1-based WAVE2 complex.
    5. CDK1-mediated phosphorylation of Abi1 attenuates Bcr-Abl-induced F-actin assembly and tyrosine phosphorylation of WAVE complex during mitosis
      Title: CDK1-mediated phosphorylation of Abi1 attenuates Bcr-Abl-induced F-actin assembly and tyrosine phosphorylation of WAVE complex during mitosis.
    6. sential role for Abi1 in embryonic survival and WAVE2 complex integrity
      Title: Essential role for Abi1 in embryonic survival and WAVE2 complex integrity.
    7. Abl-interactor-1 (Abi1) has a role in cardiovascular and placental development and is a binding partner of the alpha4 integrin.
      Title: Abl-interactor-1 (Abi1) has a role in cardiovascular and placental development and is a binding partner of the alpha4 integrin.
    8. These results show that the interaction between Abi-1 and betaPIX is involved in the formation of growth factor-induced membrane dorsal ruffles.
      Title: A new interaction between Abi-1 and betaPIX involved in PDGF-activated actin cytoskeleton reorganisation.
    9. The WAVE2/Abi1 complex differentially regulates megakaryocyte development and spreading.
      Title: The WAVE2/Abi1 complex differentially regulates megakaryocyte development and spreading: implications for platelet biogenesis and spreading machinery.
    10. Abi-1 regulates c-Abl-mediated phosphorylation of Mena by interacting with both proteins
      Title: Abl interactor 1 promotes tyrosine 296 phosphorylation of mammalian enabled (Mena) by c-Abl kinase.
    Submit: New GeneRIF Correction See all GeneRIFs (14)

    Variation

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    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Endonuclease-mediated (2) 
    • Targeted (3)  1 citation

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • MGC6064

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables SH3 domain binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables SH3 domain binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables SH3 domain binding ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables protein tyrosine kinase activator activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables signaling adaptor activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables signaling adaptor activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables signaling adaptor activity ISO
    Inferred from Sequence Orthology
    more info
    		  
    Process Evidence Code Pubs
    acts_upstream_of_or_within dendrite morphogenesis IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    acts_upstream_of_or_within lamellipodium morphogenesis IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within megakaryocyte development IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in neuron migration IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in positive regulation of protein tyrosine kinase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    acts_upstream_of_or_within positive regulation of protein tyrosine kinase activity ISO
    Inferred from Sequence Orthology
    more info
    		 PubMed 
    involved_in postsynapse to nucleus signaling pathway ISO
    Inferred from Sequence Orthology
    more info
    		  
    acts_upstream_of_or_within somitogenesis IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Component Evidence Code Pubs
    part_of SCAR complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    part_of SCAR complex IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    part_of SCAR complex ISO
    Inferred from Sequence Orthology
    more info
    		  
    is_active_in actin-based cell projection IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in cell leading edge IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in cytoskeleton IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in filopodium tip IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in filopodium tip ISO
    Inferred from Sequence Orthology
    more info
    		  
    is_active_in glutamatergic synapse ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in growth cone IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in intracellular anatomical structure ISO
    Inferred from Sequence Orthology
    more info
    		 PubMed 
    is_active_in lamellipodium IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in lamellipodium IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in lamellipodium ISO
    Inferred from Sequence Orthology
    more info
    		 PubMed 
    located_in neuron projection 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
    		  
    is_active_in postsynaptic density ISO
    Inferred from Sequence Orthology
    more info
    		  

    General protein information

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    Preferred Names
    abl interactor 1
    Names
    abelson interactor 1
    ablphilin-1
    eps8 SH3 domain-binding protein
    eps8 binding protein
    spectrin SH3 domain binding protein 1

    NCBI Reference Sequences (RefSeq)

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    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.

    mRNA and Protein(s)

    1. NM_001077190.4 → NP_001070658.1  abl interactor 1 isoform 1

      See identical proteins and their annotated locations for NP_001070658.1

      Status: VALIDATED

      Source sequence(s)
      AL845257, CT030013
      Consensus CDS
      CCDS38061.1
      UniProtKB/Swiss-Prot
      Q3U8V0, Q60747, Q8CBW3, Q91ZM5, Q923I9, Q99KH4
      UniProtKB/TrEMBL
      J3QNK8
      Related
      ENSMUSP00000118491.2, ENSMUST00000123948.8
      Conserved Domains (2) summary
      cd11971
      Location:423 → 481
      SH3_Abi1; Src homology 3 domain of Abl Interactor 1
      pfam07815
      Location:93 → 169
      Abi_HHR; Abl-interactor HHR

    2. NM_001077192.4 → NP_001070660.1  abl interactor 1 isoform 4

      See identical proteins and their annotated locations for NP_001070660.1

      Status: VALIDATED

      Source sequence(s)
      AL845257, CT030013
      Consensus CDS
      CCDS38060.1
      UniProtKB/TrEMBL
      Q3TMI0, Q3TPY5, Q3UAH6
      Related
      ENSMUSP00000120621.2, ENSMUST00000149719.8
      Conserved Domains (2) summary
      pfam07815
      Location:93 → 164
      Abi_HHR; Abl-interactor HHR
      cl17036
      Location:388 → 446
      SH3; Src Homology 3 domain superfamily

    3. NM_001077193.4 → NP_001070661.1  abl interactor 1 isoform 5

      See identical proteins and their annotated locations for NP_001070661.1

      Status: VALIDATED

      Source sequence(s)
      AL845257, CT030013
      Consensus CDS
      CCDS38058.1
      UniProtKB/TrEMBL
      Q3TMI0, Q3UAH6
      Related
      ENSMUSP00000110191.4, ENSMUST00000114544.10
      Conserved Domains (2) summary
      pfam07815
      Location:93 → 154
      Abi_HHR; Abl-interactor HHR
      cl17036
      Location:330 → 388
      SH3; Src Homology 3 domain superfamily

    4. NM_001331043.2 → NP_001317972.1  abl interactor 1 isoform 6

      Status: VALIDATED

      Source sequence(s)
      AL845257, CT030013
      Consensus CDS
      CCDS84480.1
      UniProtKB/TrEMBL
      B7ZCU0, J3QNK8
      Related
      ENSMUSP00000088957.7, ENSMUST00000091394.13

    5. NM_001331044.2 → NP_001317973.1  abl interactor 1 isoform 7

      Status: VALIDATED

      Source sequence(s)
      AL845257, CT030013
      Consensus CDS
      CCDS84481.1
      UniProtKB/TrEMBL
      B7ZCU3, Q3TMI0, Q3UAH6
      Related
      ENSMUSP00000077997.8, ENSMUST00000078977.14

    6. NM_001331045.2 → NP_001317974.1  abl interactor 1 isoform 8

      Status: VALIDATED

      Source sequence(s)
      AL845257, CT030013
      Consensus CDS
      CCDS84479.1
      UniProtKB/TrEMBL
      B7ZCU4, Q3TMI0, Q3UAH6
      Related
      ENSMUSP00000090860.7, ENSMUST00000093171.13

    7. NM_001377510.2 → NP_001364439.1  abl interactor 1 isoform 9

      Status: VALIDATED

      Source sequence(s)
      AL845257, CT030013
      UniProtKB/TrEMBL
      Q3TMI0, Q3UAH6
      Conserved Domains (2) summary
      pfam07815
      Location:93 → 154
      Abi_HHR; Abl-interactor HHR
      cl17036
      Location:389 → 447
      SH3; Src Homology 3 domain superfamily

    8. NM_001377511.2 → NP_001364440.1  abl interactor 1 isoform 10

      Status: VALIDATED

      Source sequence(s)
      AL845257, CT030013
      UniProtKB/TrEMBL
      Q3UBL3
      Conserved Domains (1) summary
      cl17036
      Location:209 → 267
      SH3; Src Homology 3 domain superfamily

    9. NM_001377512.2 → NP_001364441.1  abl interactor 1 isoform 11

      Status: VALIDATED

      Source sequence(s)
      AL845257, CT030013
      UniProtKB/TrEMBL
      Q3UBL3
      Conserved Domains (2) summary
      pfam07815
      Location:1 → 27
      Abi_HHR; Abl-interactor HHR
      cl17036
      Location:206 → 264
      SH3; Src Homology 3 domain superfamily

    10. NM_001377513.2 → NP_001364442.1  abl interactor 1 isoform 12

      Status: VALIDATED

      Source sequence(s)
      AL845257, CT030013
      Conserved Domains (1) summary
      cl17036
      Location:162 → 220
      SH3; Src Homology 3 domain superfamily

    11. NM_001416851.1 → NP_001403780.1  abl interactor 1 isoform 13

      Status: VALIDATED

      Source sequence(s)
      AL845257, CT030013

    12. NM_001416852.1 → NP_001403781.1  abl interactor 1 isoform 14

      Status: VALIDATED

      Source sequence(s)
      AL845257, CT030013
      UniProtKB/TrEMBL
      B7ZCU5
      Related
      ENSMUSP00000116093.2, ENSMUST00000139038.8

    13. NM_001416853.1 → NP_001403782.1  abl interactor 1 isoform 15

      Status: VALIDATED

      Source sequence(s)
      AL845257, CT030013

    14. NM_001416854.1 → NP_001403783.1  abl interactor 1 isoform 16

      Status: VALIDATED

      Source sequence(s)
      AL845257, CT030013

    15. NM_001416855.1 → NP_001403784.1  abl interactor 1 isoform 17

      Status: VALIDATED

      Source sequence(s)
      AL845257, CT030013

    16. NM_001416856.1 → NP_001403785.1  abl interactor 1 isoform 18

      Status: VALIDATED

      Source sequence(s)
      AL845257, CT030013

    17. NM_001416857.1 → NP_001403786.1  abl interactor 1 isoform 19

      Status: VALIDATED

      Source sequence(s)
      AL845257, CT030013

    18. NM_001416858.1 → NP_001403787.1  abl interactor 1 isoform 20

      Status: VALIDATED

      Source sequence(s)
      AL845257, CT030013

    19. NM_001416859.1 → NP_001403788.1  abl interactor 1 isoform 21

      Status: VALIDATED

      Source sequence(s)
      AL845257, CT030013
      UniProtKB/TrEMBL
      B7ZCU2
      Related
      ENSMUSP00000120769.2, ENSMUST00000153931.8

    20. NM_001416860.1 → NP_001403789.1  abl interactor 1 isoform 22

      Status: VALIDATED

      Source sequence(s)
      AL845257, CT030013

    21. NM_001416861.1 → NP_001403790.1  abl interactor 1 isoform 23

      Status: VALIDATED

      Source sequence(s)
      AL845257, CT030013

    22. NM_001416862.1 → NP_001403791.1  abl interactor 1 isoform 24

      Status: VALIDATED

      Source sequence(s)
      AL845257, CT030013

    23. NM_001416863.1 → NP_001403792.1  abl interactor 1 isoform 25

      Status: VALIDATED

      Source sequence(s)
      AL845257, CT030013

    24. NM_001416864.1 → NP_001403793.1  abl interactor 1 isoform 26

      Status: VALIDATED

      Source sequence(s)
      AL845257, CT030013

    25. NM_001416865.1 → NP_001403794.1  abl interactor 1 isoform 27

      Status: VALIDATED

      Source sequence(s)
      AL845257, CT030013

    26. NM_001416866.1 → NP_001403795.1  abl interactor 1 isoform 28

      Status: VALIDATED

      Source sequence(s)
      AL845257, CT030013

    27. NM_007380.5 → NP_031406.2  abl interactor 1 isoform 3

      See identical proteins and their annotated locations for NP_031406.2

      Status: VALIDATED

      Source sequence(s)
      AL845257, CT030013
      Consensus CDS
      CCDS50513.1
      UniProtKB/TrEMBL
      J3QNK8, Q3TJR5
      Related
      ENSMUSP00000120462.2, ENSMUST00000140164.8
      Conserved Domains (2) summary
      cd11971
      Location:417 → 475
      SH3_Abi1; Src homology 3 domain of Abl Interactor 1
      pfam07815
      Location:93 → 164
      Abi_HHR; Abl-interactor HHR

    28. NM_145994.4 → NP_666106.1  abl interactor 1 isoform 2

      See identical proteins and their annotated locations for NP_666106.1

      Status: VALIDATED

      Source sequence(s)
      AL845257, CT030013
      Consensus CDS
      CCDS38059.1
      UniProtKB/TrEMBL
      J3QNK8, Q3TJ64
      Related
      ENSMUSP00000117335.2, ENSMUST00000126112.8
      Conserved Domains (2) summary
      cd11971
      Location:418 → 476
      SH3_Abi1; Src homology 3 domain of Abl Interactor 1
      pfam07815
      Location:93 → 164
      Abi_HHR; Abl-interactor HHR

    RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

    Reference GRCm39 C57BL/6J

    Genomic

    1. NC_000068.8 Reference GRCm39 C57BL/6J

      Range
      22830085..22930207 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8CBW3.3 GenPept UniProtKB/Swiss-Prot:Q8CBW3

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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