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BAIAP2L1 BAR/IMD domain containing adaptor protein 2 like 1 [ Homo sapiens (human) ]

Gene ID: 55971, updated on 8-Jul-2021

Summary

Official Symbol
BAIAP2L1provided by HGNC
Official Full Name
BAR/IMD domain containing adaptor 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
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Genomic context

See BAIAP2L1 in Genome Data Viewer
Location:
7q21.3-q22.1
Exon count:
14
Annotation release Status Assembly Chr Location
109.20210514 current GRCh38.p13 (GCF_000001405.39) 7 NC_000007.14 (98291650..98401090, complement)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (97920962..98030402, 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 Sharpr-MPRA regulatory region 13100 Neighboring gene brain protein I3 Neighboring gene RPS3A 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 Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
A genome-wide association meta-analysis of circulating sex hormone-binding globulin reveals multiple Loci implicated in sex steroid hormone regulation.
GeneReviews: Not available
A genome-wide search for loci interacting with known prostate cancer risk-associated genetic variants.
GeneReviews: Not available
Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
GeneReviews: Not available

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
enables actin binding IEA
Inferred from Electronic Annotation
more info
 
enables cadherin binding involved in cell-cell adhesion HDA PubMed 
enables proline-rich region binding IDA
Inferred from Direct Assay
more info
PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Component Evidence Code Pubs
colocalizes_with actin cytoskeleton IDA
Inferred from Direct Assay
more info
PubMed 
located_in adherens junction HDA PubMed 
is_active_in cytosol IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in cytosol IDA
Inferred from Direct Assay
more info
PubMed 
located_in cytosol TAS
Traceable Author Statement
more info
 
located_in extracellular exosome HDA PubMed 
is_active_in nucleoplasm IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in nucleoplasm IDA
Inferred from Direct Assay
more info
 
located_in 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 1
BAI1-associated protein 2-like protein 1
insulin receptor tyrosine kinase substrate

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.

Genomic

  1. NG_013090.1 RefSeqGene

    Range
    5026..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, ENST00000005260.9
    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 Updated Annotation Release 109.20210514

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000007.14 Reference GRCh38.p13 Primary Assembly

    Range
    98291650..98401090 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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