Format

Send to:

Choose Destination

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

Gene ID: 55971, updated on 9-Dec-2018

Summary

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
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]
Expression
Broad expression in stomach (RPKM 26.9), colon (RPKM 14.1) and 19 other tissues See more
Orthologs

Genomic context

See BAIAP2L1 in Genome Data Viewer
Location:
7q21.3-q22.1
Exon count:
14
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 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 pseudogene 82 Neighboring gene ribosomal protein S26 pseudogene 33

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 FunctionsWhat's a GeneRIF?

Phenotypes

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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

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 HDA 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
PubMed 
actin filament bundle assembly IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cell-cell adhesion IEA
Inferred from Electronic Annotation
more info
 
plasma membrane organization IEA
Inferred from Electronic Annotation
more info
 
positive regulation of actin cytoskeleton reorganization IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
positive regulation of actin cytoskeleton reorganization IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of actin filament polymerization IBA
Inferred from Biological aspect of Ancestor
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
actin cytoskeleton IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
colocalizes_with actin cytoskeleton IDA
Inferred from Direct Assay
more info
PubMed 
cell-cell adherens junction HDA PubMed 
cytosol IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cytosol IDA
Inferred from Direct Assay
more info
PubMed 
extracellular exosome HDA PubMed 
nucleoplasm IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
nucleoplasm IDA
Inferred from Direct Assay
more info
 
plasma membrane IDA
Inferred from Direct Assay
more info
 

General protein information

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

NCBI Reference Sequences (RefSeq)

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_018842.5NP_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, ENST00000005260.8
    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 109

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000007.14 Reference GRCh38.p12 Primary Assembly

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