Aliases for BAIAP2L1 Gene
Aliases for BAIAP2L1 Gene
External Ids for BAIAP2L1 Gene
- HGNC: 21649
- Entrez Gene: 55971
- Ensembl: ENSG00000006453
- OMIM: 611877
- UniProtKB: Q9UHR4
Previous GeneCards Identifiers for BAIAP2L1 Gene
- GC07M097567
- GC07M097760
- GC07M097920
- GC07M092521
Summaries for BAIAP2L1 Gene
-
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]
GeneCards Summary for BAIAP2L1 Gene
BAIAP2L1 (BAI1 Associated Protein 2 Like 1) is a Protein Coding gene. Diseases associated with BAIAP2L1 include Diabetes Mellitus, Noninsulin-Dependent. GO annotations related to this gene include actin binding and proline-rich region binding. An important paralog of this gene is BAIAP2.
UniProtKB/Swiss-Prot for BAIAP2L1 Gene
-
May function as adapter protein. Involved in the formation of clusters of actin bundles. Plays a role in the reorganization of the actin cytoskeleton in response to bacterial infection.
No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for BAIAP2L1 Gene
Genomics for BAIAP2L1 Gene
Regulatory Elements for BAIAP2L1 Gene
Enhancers for BAIAP2L1 Gene
- Elite enhancer and/or Elite enhancer-gene association
Download GeneHancer data dump
Enhancers around BAIAP2L1 on UCSC Golden Path with GeneCards custom track
- Transcription factor binding sites by QIAGEN in the BAIAP2L1 gene promoter:
Regulatory Element Products
Genomic Location for BAIAP2L1 Gene
- Chromosome:
- 7
- Start:
- 98,291,650 bp from pter
- End:
- 98,401,115 bp from pter
- Size:
- 109,466 bases
- Orientation:
- Minus strand
Genomic View for BAIAP2L1 Gene
Genes around BAIAP2L1 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 7q22.1 by Ensembl
- 7q21.3-q22.1 by Entrez Gene
- 7q21.3-q22.1 by HGNC
BAIAP2L1 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene Density
RefSeq DNA sequence for BAIAP2L1 Gene
Proteins for BAIAP2L1 Gene
-
Protein details for BAIAP2L1 Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- Q9UHR4-BI2L1_HUMAN
- Recommended name:
- Brain-specific angiogenesis inhibitor 1-associated protein 2-like protein 1
- Protein Accession:
- Q9UHR4
- A4D268
- Q75L21
- Q75L22
- Q96CV4
- Q9H5F5
- Q9Y2M8
Protein attributes for BAIAP2L1 Gene
- Size:
- 511 amino acids
- Molecular mass:
- 56883 Da
- Quaternary structure:
-
- Interacts with RAC1. Binds to F-actin. Interacts with FASLG. Interacts (via SH3 domain) with E.coli effector protein EspF(U) (via PXXP motifs). Identified in a complex containing at least WASL, BAIAP2L1 and E.coli EspF(U). Interacts with E.coli intimin receptor Tir.
- SequenceCaution:
-
- Sequence=AAD20937.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305}; Sequence=AAS07549.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=BAB15671.1; Type=Erroneous initiation; Evidence={ECO:0000305};
Protein Expression for BAIAP2L1 Gene
Post-translational modifications for BAIAP2L1 Gene
- Phosphorylated on tyrosine in response to insulin.
- Modification sites at PhosphoSitePlus
- Modification sites at neXtProt
Other Protein References for BAIAP2L1 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
-
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- antibodies-online Antibodies for BAIAP2L1: See all 36
- GeneTex BAIAP2L1 antibody for BAIAP2L1
-
Santa Cruz Biotechnology (SCBT) Antibodies for BAIAP2L1
Protein Products
-
OriGene Purified Proteins for BAIAP2L1
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- antibodies-online Proteins for BAIAP2L1: See all 8
- Search antibodies-online for peptides
- Search GeneTex for Proteins for BAIAP2L1
Assay Products
- antibodies-online Kits for BAIAP2L1: See all 3
No data available for DME Specific Peptides for BAIAP2L1 Gene
Domains & Families for BAIAP2L1 Gene
Gene Families for BAIAP2L1 Gene
Protein Domains for BAIAP2L1 Gene
- InterPro:
- Blocks:
- ProtoNet:
Suggested Antigen Peptide Sequences for BAIAP2L1 Gene
- GenScript: Design optimal peptide antigens:
Graphical View of Domain Structure for InterPro Entry
Q9UHR4UniProtKB/Swiss-Prot:
BI2L1_HUMAN :- The IMD domain is predicted to have a helical structure. It may induce actin bundling and filopodia formation (By similarity).
- Domain:
-
- The IMD domain is predicted to have a helical structure. It may induce actin bundling and filopodia formation (By similarity).
Function for BAIAP2L1 Gene
Molecular function for BAIAP2L1 Gene
- UniProtKB/Swiss-Prot Function:
- May function as adapter protein. Involved in the formation of clusters of actin bundles. Plays a role in the reorganization of the actin cytoskeleton in response to bacterial infection.
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0003779 | actin binding | IEA | -- |
| GO:0005515 | protein binding | IPI | 25519916 |
| GO:0070064 | proline-rich region binding | IDA | 21098279 |
| GO:0098641 | cadherin binding involved in cell-cell adhesion | IDA | 25468996 |
Phenotypes for BAIAP2L1 Gene
- MGI mutant phenotypes for BAIAP2L1:
- inferred from 1 alleles
- GenomeRNAi human phenotypes for BAIAP2L1:
Animal Models for BAIAP2L1 Gene
- MGI Knock Outs for BAIAP2L1:
-
- Baiap2l1 tm1Zgh
Animal Model Products
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-
-
ViGene Biosciences lentiviral particle packaged cDNA for BAIAP2L1 gene
-
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CRISPR Products
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miRNA Products
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Inhibitory RNA Products
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Clone Products
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-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
Cell Line Products
-
Horizon Cell Lines for BAIAP2L1
-
ViGene Biosciences adenoviral particle packaged cDNA for BAIAP2L1 gene
-
ViGene Biosciences lentiviral particle packaged cDNA for BAIAP2L1 gene
-
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Flow Cytometry Products
No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , miRNA , Transcription Factor Targets and HOMER Transcription for BAIAP2L1 Gene
Localization for BAIAP2L1 Gene
Subcellular locations from UniProtKB/Swiss-Prot for BAIAP2L1 Gene
- Cytoplasm, cytoskeleton. Note=Recruited to actin pedestals that are formed upon infection by bacteria at bacterial attachment sites.
| Compartment | Confidence |
|---|---|
| plasma membrane | 5 |
| extracellular | 5 |
| nucleus | 5 |
| cytosol | 5 |
| cytoskeleton | 4 |
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005654 | nucleoplasm | IDA | -- |
| GO:0005737 | cytoplasm | IEA | -- |
| GO:0005829 | cytosol | IDA | 19366662 |
| GO:0005856 | cytoskeleton | IEA | -- |
| GO:0005886 | plasma membrane | IDA | -- |
Pathways & Interactions for BAIAP2L1 Gene
No Data Available
Interacting Proteins for BAIAP2L1 Gene
Selected Interacting proteins:
ENSP00000005260
Q9UHR4-BI2L1_HUMAN
for BAIAP2L1 Gene via
STRING
UniProtKB
IID
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0007009 | plasma membrane organization | IEA | -- |
| GO:0008286 | insulin receptor signaling pathway | IBA | -- |
| GO:0009617 | response to bacterium | IDA | 19366662 |
| GO:0030833 | regulation of actin filament polymerization | IEA | -- |
| GO:0030838 | positive regulation of actin filament polymerization | IDA | 21098279 |
No data available for Pathways by source and SIGNOR curated interactions for BAIAP2L1 Gene
Transcripts for BAIAP2L1 Gene
mRNA/cDNA for BAIAP2L1 Gene
- (1) REFSEQ mRNAs :
- (6) Additional mRNA sequences :
- (228) Selected AceView cDNA sequences:
- (5) Ensembl transcripts including schematic representations, and UCSC links where relevant :
Unigene Clusters for BAIAP2L1 Gene
CRISPR Products
-
OriGene CRISPR knockouts for BAIAP2L1
-
Santa Cruz Biotechnology (SCBT) CRISPR for BAIAP2L1
- GenScript: Design CRISPR guide RNA sequences for BAIAP2L1
miRNA Products
- Search ViGene Biosciences for BAIAP2L1
Inhibitory RNA Products
- Origene RNAi, siRNA, and shRNA products in human, mouse, rat for BAIAP2L1
- Browse OriGene Inhibitory RNA Products For BAIAP2L1
-
ViGene Biosciences ready-to-package AAV shRNAs for BAIAP2L1 gene
Clone Products
-
OriGene ORF clones in human for BAIAP2L1
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Sino Biological Human cDNA Clone for BAIAP2L1
- Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat
- VectorBuilder custom plasmid, inducible vectors for BAIAP2L1
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for BAIAP2L1
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
Flow Cytometry Products
Expression for BAIAP2L1 Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
- Brain (Nervous System)
- Gut Tube (Gastrointestinal Tract)
-
Liver (Hepatobiliary System)
- Periportal Hepatocytes Liver Lobule
- Hepatocytes Liver Lobule
-
Hair (Integumentary System)
- Bulge Stem Cells Bulge
- Thyroid (Endocrine System)
- Neural Tube (Nervous System)
- Intestine (Gastrointestinal Tract)
- Pancreas (Endocrine System)
- Ovary (Reproductive System)
- NULL (Uncategorized)
-
Stomach (Gastrointestinal Tract)
mRNA differential expression in normal tissues according to GTEx for BAIAP2L1 Gene
This gene is overexpressed in Stomach (x4.5), Pancreas (x4.5), and Esophagus - Mucosa (x4.3).
This gene is overexpressed in Breast (21.1), Islet of Langerhans (12.5), Stomach (10.0), and Placenta (7.0).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for BAIAP2L1 Gene
NURSA nuclear receptor signaling pathways regulating expression of BAIAP2L1 Gene:
BAIAP2L1SOURCE GeneReport for Unigene cluster for BAIAP2L1 Gene:
Hs.656063Evidence on tissue expression from TISSUES for BAIAP2L1 Gene
- Liver(4.3)
- Lung(4.3)
- Adrenal gland(4.2)
- Stomach(2.1)
Primer Products
-
OriGene qPCR primer pairs for BAIAP2L1
-
OriGene qPCR primer pairs and template standards for BAIAP2L1
No data available for Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for BAIAP2L1 Gene
Orthologs for BAIAP2L1 Gene
This gene was present in the common ancestor of animals.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | BAIAP2L1 34 35 |
|
||
| dog (Canis familiaris) |
Mammalia | BAIAP2L1 34 35 |
|
||
| mouse (Mus musculus) |
Mammalia | Baiap2l1 34 16 35 |
|
||
| rat (Rattus norvegicus) |
Mammalia | Baiap2l1 34 |
|
||
| cow (Bos Taurus) |
Mammalia | BAIAP2L1 34 35 |
|
||
| platypus (Ornithorhynchus anatinus) |
Mammalia | BAIAP2L1 35 |
|
OneToOne | |
| oppossum (Monodelphis domestica) |
Mammalia | BAIAP2L1 35 |
|
OneToOne | |
| chicken (Gallus gallus) |
Aves | BAIAP2L1 34 35 |
|
||
| lizard (Anolis carolinensis) |
Reptilia | BAIAP2L1 35 |
|
OneToOne | |
| tropical clawed frog (Silurana tropicalis) |
Amphibia | baiap2l1 34 |
|
||
| African clawed frog (Xenopus laevis) |
Amphibia | MGC68822 34 |
|
||
| zebrafish (Danio rerio) |
Actinopterygii | FP340264.1 35 |
|
OneToMany | |
| baiap2l1a 35 |
|
OneToMany | |||
| baiap2l1b 34 35 |
|
||||
| loc55971 34 |
|
||||
| fruit fly (Drosophila melanogaster) |
Insecta | CG32082 35 |
|
OneToMany |
- Species where no ortholog for BAIAP2L1 was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Ashbya gossypii)
- Actinobacteria (Mycobacterium tuberculosis)
- African malaria mosquito (Anopheles gambiae)
- Alicante grape (Vitis vinifera)
- alpha proteobacteria (Wolbachia pipientis)
- amoeba (Dictyostelium discoideum)
- Archea (Pyrococcus horikoshii)
- baker's yeast (Saccharomyces cerevisiae)
- barley (Hordeum vulgare)
- beta proteobacteria (Neisseria meningitidis)
- bread mold (Neurospora crassa)
- Chromalveolata (Phytophthora infestans)
- common water flea (Daphnia pulex)
- corn (Zea mays)
- E. coli (Escherichia coli)
- filamentous fungi (Aspergillus nidulans)
- Firmicute bacteria (Streptococcus pneumoniae)
- fission yeast (Schizosaccharomyces pombe)
- green algae (Chlamydomonas reinhardtii)
- honey bee (Apis mellifera)
- K. lactis yeast (Kluyveromyces lactis)
- loblloly pine (Pinus taeda)
- malaria parasite (Plasmodium falciparum)
- medicago trunc (Medicago Truncatula)
- moss (Physcomitrella patens)
- orangutan (Pongo pygmaeus)
- pig (Sus scrofa)
- rainbow trout (Oncorhynchus mykiss)
- rice (Oryza sativa)
- rice blast fungus (Magnaporthe grisea)
- schistosome parasite (Schistosoma mansoni)
- sea anemone (Nematostella vectensis)
- sea squirt (Ciona intestinalis)
- sea squirt (Ciona savignyi)
- sea urchin (Strongylocentrotus purpuratus)
- sorghum (Sorghum bicolor)
- soybean (Glycine max)
- stem rust fungus (Puccinia graminis)
- sugarcane (Saccharum officinarum)
- thale cress (Arabidopsis thaliana)
- tomato (Lycopersicon esculentum)
- toxoplasmosis (Toxoplasma gondii)
- Trichoplax (Trichoplax adhaerens)
- wheat (Triticum aestivum)
- worm (Caenorhabditis elegans)
Paralogs for BAIAP2L1 Gene
(2) SIMAP similar genes for BAIAP2L1 Gene using alignment to 1 proteins:
Pseudogenes.org Pseudogenes for BAIAP2L1 Gene
Variants for BAIAP2L1 Gene
| SNP ID | Clin | Chr 07 pos | Sequence Context | AA Info | Type |
|---|---|---|---|---|---|
| rs1000010320 | -- | 98,401,770(+) | AGTAC(-/T)TTTTT | upstream-variant-2KB | |
| rs1000013887 | -- | 98,300,929(+) | AGAAG(C/T)CTCCC | intron-variant | |
| rs1000079497 | -- | 98,306,360(+) | GACAC(A/G)GCTAG | intron-variant | |
| rs1000096763 | -- | 98,358,146(+) | CAATT(C/T)TTCAT | intron-variant | |
| rs1000122416 | -- | 98,387,784(+) | ATTTG(C/T)TTGAG | intron-variant |
| Variant ID | Type | Subtype | PubMed ID |
|---|---|---|---|
| esv1113502 | CNV | deletion | 17803354 |
| esv2657368 | CNV | deletion | 23128226 |
| esv2667839 | CNV | deletion | 23128226 |
| esv2670498 | CNV | deletion | 23128226 |
| esv27479 | CNV | gain | 19812545 |
| esv3542133 | CNV | deletion | 23714750 |
| esv3614253 | CNV | loss | 21293372 |
| esv3614254 | CNV | loss | 21293372 |
| esv3614255 | CNV | loss | 21293372 |
| esv3614256 | CNV | loss | 21293372 |
| nsv1016826 | CNV | loss | 25217958 |
| nsv1112942 | CNV | deletion | 24896259 |
| nsv1119133 | CNV | deletion | 24896259 |
| nsv1124244 | CNV | deletion | 24896259 |
| nsv5860 | CNV | deletion | 18451855 |
| nsv607919 | CNV | loss | 21841781 |
| nsv831067 | CNV | loss | 17160897 |
| nsv966862 | CNV | duplication | 23825009 |
Residual Variation Intolerance Score:
51.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
2.54;
44.23% of all genes are more intolerant (likely to be disease-causing)
Relevant External Links for BAIAP2L1 Gene
- SNPedia medical, phenotypic, and genealogical associations of SNPs for
- BAIAP2L1
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for BAIAP2L1 Gene
Disorders for BAIAP2L1 Gene
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| diabetes mellitus, noninsulin-dependent |
|
Search BAIAP2L1 in MalaCards
View complete list of genes associated with diseases
Relevant External Links for BAIAP2L1
No data available for UniProtKB/Swiss-Prot and Genatlas for BAIAP2L1 Gene
Publications for BAIAP2L1 Gene
- A genome-wide search for loci interacting with known prostate cancer risk-associated genetic variants. (PMID: 22219177) Tao S. … Sun J. (Carcinogenesis 2012) 3 46 64
- Enterohaemorrhagic Escherichia coli exploits a tryptophan switch to hijack host f-actin assembly. (PMID: 22921828) Aitio O. … Permi P. (Structure 2012) 3 4 64
- Recognition of tandem PxxP motifs as a unique Src homology 3-binding mode triggers pathogen-driven actin assembly. (PMID: 21098279) Aitio O. … Permi P. (Proc. Natl. Acad. Sci. U.S.A. 2010) 3 4 64
- Insulin receptor tyrosine kinase substrate links the E. coli O157:H7 actin assembly effectors Tir and EspF(U) during pedestal formation. (PMID: 19366662) Vingadassalom D. … Leong J.M. (Proc. Natl. Acad. Sci. U.S.A. 2009) 3 4 64
- Identification of SH3 domain interaction partners of human FasL (CD178) by phage display screening. (PMID: 19807924) Voss M. … Janssen O. (BMC Immunol. 2009) 3 4 64
Products for BAIAP2L1 Gene
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- ViGene Biosciences adenoviral particle packaged cDNA for BAIAP2L1 gene
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- VectorBuilder custom plasmid, inducible vectors for BAIAP2L1
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for BAIAP2L1
- VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
Sources for BAIAP2L1 Gene
- (1) GeneCards
- (2) HGNC
- (3) EntrezGene
- (4) Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) GO
- (12) TrEMBL
- (13) InterPro
- (14) ProtoNet
- (15) Blocks
- (16) MGI
- (17) IUBMB
- (18) KEGG
- (19) MINT
- (20) STRING
- (21) IntAct
- (22) Novoseek
- (23) PharmGKB
- (24) DrugBank
- (25) HMDB
- (26) UniGene
- (27) AceView
- (28) RNAdb
- (29) ASD
- (30) ECgene
- (31) GeneAnnot
- (32) CGAP SAGE
- (33) SOURCE
- (34) HomoloGene
- (35) PanEnsembl
- (36) euGenes
- (37) SGD
- (38) FlyBase
- (39) WormBase
- (40) Pseudogene
- (41) DGV
- (42) dbSNP
- (43) GenAtlas
- (44) GeneTests
- (45) HGMD
- (46) GAD
- (47) LSDB
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