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

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; AllianceGenome:HGNC:21649
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: mouse all
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Genomic context

Location:: 7q21.3-q22.1

Exon count:: 14

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	7	NC_000007.14 (98291650..98401090, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	7	NC_060931.1 (99522397..99632094, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	7	NC_000007.13 (97920962..98030402, complement)

Chromosome 7 - NC_000007.14 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

BAIAP2L1 accelerates breast cancer progression and chemoresistance by activating AKT signaling through binding with ribosomal protein L3.
Title: BAIAP2L1 accelerates breast cancer progression and chemoresistance by activating AKT signaling through binding with ribosomal protein L3.
Insulin receptor tyrosine kinase substrate (IRTKS) promotes the tumorigenesis of pancreatic cancer via PI3K/AKT signaling.
Title: Insulin receptor tyrosine kinase substrate (IRTKS) promotes the tumorigenesis of pancreatic cancer via PI3K/AKT signaling.
BAIAP2L1 enables cancer cell migration and facilitates phospho-Cofilin asymmetry localization in the border cells.
Title: BAIAP2L1 enables cancer cell migration and facilitates phospho-Cofilin asymmetry localization in the border cells.
IRTKS localizes to the distal tips of actively growing microvilli via a mechanism that requires its N-terminal I-BAR domain. At microvillar tips, IRTKS promotes elongation through a mechanism involving its C-terminal actin-binding WH2 domain.
Title: IRTKS (BAIAP2L1) Elongates Epithelial Microvilli Using EPS8-Dependent and Independent Mechanisms.
Rho family GTPases use the I-BAR proteins, IRSp53 (also known as BAIAP2), IRTKS and Pinkbar, as a central mechanism to modulate cell morphology.
Title: The Rho GTPase Rif signals through IRTKS, Eps8 and WAVE2 to generate dorsal membrane ruffles and filopodia.
IRTKS promoted serum-induced cell migration along with enhanced phosphorylation of mitogen activated kinases Erk1/2 and p38, and activation of small GTPases Rac1 and Cdc42. In addition, cells overexpressing IRTKS exhibited an increased polarity characterized by elongated cytoplasm and extensive lamellipodia at leading edges.
Title: The SH3 domain distinguishes the role of I-BAR proteins IRTKS and MIM in chemotactic response to serum.
Upregulation of BAIAP2L1 is associated with ovarian cancer.
Title: BAI1-Associated Protein 2-Like 1 (BAIAP2L1) Is a Potential Biomarker in Ovarian Cancer.
Lacking the Bin-Amphiphysin-Rvs (BAR) dimerization domain of BAIAP2L1.
Title: Mechanism of Oncogenic Signal Activation by the Novel Fusion Kinase FGFR3-BAIAP2L1.
IRTKS can interact with epidermal growth factor receptor (EGFR), results in the phosphorylation of extracellular signal-regulated kinase
Title: Insulin receptor tyrosine kinase substrate activates EGFR/ERK signalling pathway and promotes cell proliferation of hepatocellular carcinoma.
Identification of a novel oncogenic FGFR3-BAIAP2L1 fusion protein in bladder cancer.
Title: Oncogenic FGFR3 gene fusions in bladder cancer.

Submit: New GeneRIF Correction See all GeneRIFs (15)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
A genome-wide association meta-analysis of circulating sex hormone-binding globulin reveals multiple Loci implicated in sex steroid hormone regulation. EBI GWAS Catalog EBI GWAS CatalogPubMed
A genome-wide search for loci interacting with known prostate cancer risk-associated genetic variants. EBI GWAS Catalog EBI GWAS CatalogPubMed
Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH98644 (e-PCR)
- UniSTS:86281

SGC31939 (e-PCR)
- UniSTS:99854

RH79669 (e-PCR)
- UniSTS:92182

D7S2754 (e-PCR)
- UniSTS:72256

GDB:1317708 (e-PCR)
- UniSTS:2995

G09735 (e-PCR)
- UniSTS:83392

RH12625 (e-PCR)
- UniSTS:49885

RH92769 (e-PCR)
- UniSTS:88548

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 more info	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

Process	Evidence Code	Pubs
involved_in actin crosslink formation	IBA Inferred from Biological aspect of Ancestor more info
involved_in actin filament bundle assembly	IBA Inferred from Biological aspect of Ancestor more info
involved_in cell-cell adhesion	IEA Inferred from Electronic Annotation more info
involved_in plasma membrane organization	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of actin filament polymerization	IBA Inferred from Biological aspect of Ancestor more info
involved_in positive regulation of actin filament polymerization	IDA Inferred from Direct Assay more info	PubMed
involved_in regulation of actin cytoskeleton organization	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
colocalizes_with actin cytoskeleton	IDA Inferred from Direct Assay more info	PubMed
located_in adherens junction	HDA more info	PubMed
is_active_in cytosol	IBA Inferred from Biological aspect of Ancestor more info
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 more info	PubMed
is_active_in nucleoplasm	IBA Inferred from Biological aspect of Ancestor more info
located_in nucleoplasm	IDA Inferred from Direct Assay more info
located_in plasma membrane	IDA Inferred from Direct Assay more info

General protein information

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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

NG_013090.1 RefSeqGene

Range

5026..114466

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_018842.5 → NP_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

A4D268, Q75L21, Q75L22, Q96CV4, Q9H5F5, Q9UHR4, Q9Y2M8

Related

ENSP00000005260.8, ENST00000005260.9

Conserved Domains (2) summary

cd07645
Location:6 → 231

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:342 → 399

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)