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    BAIAP2L1 BAI1 associated protein 2 like 1 [ Homo sapiens (human) ]

    Gene ID: 55971, updated on 25-May-2017
    Official Symbol
    BAIAP2L1provided by HGNC
    Official Full Name
    BAI1 associated protein 2 like 1provided by HGNC
    Primary source
    HGNC:HGNC:21649
    See related
    Ensembl:ENSG00000006453 MIM:611877; Vega:OTTHUMG00000165117
    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
    IRTKS
    Summary
    This gene encodes a member of the IMD (IRSp53/MIM homology domain) family. Members of this family can be subdivided in two groups, the IRSp53-like and MIM-like, based on the presence or absence of the SH3 (Src homology 3) domain. The protein encoded by this gene contains a conserved IMD, also known as F-actin bundling domain, at the N-terminus, and a canonical SH3 domain near the C-terminus, so it belongs to the IRSp53-like group. This protein is the substrate for insulin receptor tyrosine kinase and binds to the small GTPase Rac. It is involved in signal transduction pathways that link deformation of the plasma membrane and remodeling of the actin cytoskeleton. It also promotes actin assembly and membrane protrusions when overexpressed in mammalian cells, and is essential to the formation of a potent actin assembly complex during EHEC (Enterohemorrhagic Escherichia coli) pedestal formation. [provided by RefSeq, Oct 2009]
    Orthologs
    Location:
    7q21.3-q22.1
    Exon count:
    14
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 7 NC_000007.14 (98291650..98401115, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (97920962..98030427, complement)

    Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene basic helix-loop-helix family member a15 Neighboring gene tectonin beta-propeller repeat containing 1 Neighboring gene brain protein I3 Neighboring gene ribosomal protein S3a pseudogene 26 Neighboring gene peptidylprolyl isomerase A (cyclophilin A) pseudogene Neighboring gene ribosomal protein S26 pseudogene 33

    • 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 Jun 15 11:32:44 2016

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    NHGRI GWAS Catalog

    Description
    A genome-wide association meta-analysis of circulating sex hormone-binding globulin reveals multiple Loci implicated in sex steroid hormone regulation.
    NHGRI GWA Catalog
    A genome-wide search for loci interacting with known prostate cancer risk-associated genetic variants.
    NHGRI GWA Catalog
    Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
    NHGRI GWA Catalog
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Clone Names

    • FLJ42275

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    actin binding IEA
    Inferred from Electronic Annotation
    more info
     
    cadherin binding involved in cell-cell adhesion IDA
    Inferred from Direct Assay
    more info
    PubMed 
    proline-rich region binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    actin crosslink formation IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    actin filament bundle assembly IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    cell-cell adhesion IEA
    Inferred from Electronic Annotation
    more info
     
    insulin receptor signaling pathway IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    plasma membrane organization IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of actin cytoskeleton reorganization IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    positive regulation of actin filament polymerization IDA
    Inferred from Direct Assay
    more info
    PubMed 
    regulation of insulin receptor signaling pathway IEA
    Inferred from Electronic Annotation
    more info
     
    response to bacterium IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Component Evidence Code Pubs
    colocalizes_with actin cytoskeleton IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cell-cell adherens junction IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cytosol IDA
    Inferred from Direct Assay
    more info
    PubMed 
    extracellular exosome IDA
    Inferred from Direct Assay
    more info
    PubMed 
    nucleoplasm IDA
    Inferred from Direct Assay
    more info
     
    plasma membrane IDA
    Inferred from Direct Assay
    more info
     
    Preferred Names
    brain-specific angiogenesis inhibitor 1-associated protein 2-like protein 1
    Names
    BAI1-associated protein 2-like protein 1
    insulin receptor tyrosine kinase substrate

    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_013090.1 RefSeqGene

      Range
      5001..114466
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_018842.4NP_061330.2  brain-specific angiogenesis inhibitor 1-associated protein 2-like protein 1

      See identical proteins and their annotated locations for NP_061330.2

      Status: REVIEWED

      Source sequence(s)
      AK074419, BC013888, BI560834, BM977002, DA442866
      Consensus CDS
      CCDS34687.1
      UniProtKB/Swiss-Prot
      Q9UHR4
      Related
      ENSP00000005260.8, OTTHUMP00000205450, ENST00000005260.8, OTTHUMT00000334681
      Conserved Domains (2) summary
      cd07645
      Location:6231
      I-BAR_IMD_BAIAP2L1; Inverse (I)-BAR, also known as the IRSp53/MIM homology Domain (IMD), of Brain-specific Angiogenesis Inhibitor 1-Associated Protein 2-Like 1
      cd11913
      Location:342399
      SH3_BAIAP2L1; Src Homology 3 domain of Brain-specific Angiogenesis Inhibitor 1-Associated Protein 2-Like 1, also called Insulin Receptor Tyrosine Kinase Substrate (IRTKS)

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...Open this link in a new tab

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

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000007.14 Reference GRCh38.p7 Primary Assembly

      Range
      98291650..98401115 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate CHM1_1.1

    Genomic

    1. NC_018918.2 Alternate CHM1_1.1

      Range
      97850970..97960506 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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