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Aliases for BAIAP2L1 Gene

Aliases for BAIAP2L1 Gene

  • BAI1 Associated Protein 2 Like 1 2 3
  • Insulin Receptor Tyrosine Kinase Substrate 2 3 4
  • BAI1-Associated Protein 2-Like 1 2 3 5
  • BAI1-Associated Protein 2-Like Protein 1 3 4
  • IRTKS 3 4

External Ids for BAIAP2L1 Gene

Previous GeneCards Identifiers for BAIAP2L1 Gene

  • GC07M097567
  • GC07M097760
  • GC07M097920
  • GC07M092521

Summaries for BAIAP2L1 Gene

Entrez Gene Summary 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 BAIAP2L2.

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.

Gene Wiki entry for BAIAP2L1 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for BAIAP2L1 Gene

Genomics for BAIAP2L1 Gene

Regulatory Elements for BAIAP2L1 Gene

Promoters for BAIAP2L1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around BAIAP2L1 on UCSC Golden Path with GeneCards custom track

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:
BAIAP2L1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for BAIAP2L1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene 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
    Secondary Accessions:
    • 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};

    Three dimensional structures from OCA and Proteopedia for BAIAP2L1 Gene

neXtProt entry for BAIAP2L1 Gene

Proteomics data for BAIAP2L1 Gene at MOPED

Post-translational modifications for BAIAP2L1 Gene

Other Protein References for BAIAP2L1 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

No data available for DME Specific Peptides for BAIAP2L1 Gene

Domains & Families for BAIAP2L1 Gene

Suggested Antigen Peptide Sequences for BAIAP2L1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q9UHR4

UniProtKB/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).
  • Contains 1 IMD (IRSp53/MIM homology) domain.
  • Contains 1 SH3 domain.
genes like me logo Genes that share domains with BAIAP2L1: view

No data available for Gene Families for BAIAP2L1 Gene

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.

Gene Ontology (GO) - Molecular Function for BAIAP2L1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003779 actin binding IEA --
genes like me logo Genes that share ontologies with BAIAP2L1: view
genes like me logo Genes that share phenotypes with BAIAP2L1: view

Animal Model Products

CRISPR Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , 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.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for BAIAP2L1 Gene COMPARTMENTS Subcellular localization image for BAIAP2L1 gene
Compartment Confidence
cytosol 5
extracellular 5
nucleus 5
plasma membrane 5
cytoskeleton 4

Gene Ontology (GO) - Cellular Components for BAIAP2L1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IDA --
GO:0070062 extracellular exosome IDA 19056867
genes like me logo Genes that share ontologies with BAIAP2L1: view

Pathways & Interactions for BAIAP2L1 Gene

SuperPathways for BAIAP2L1 Gene

No Data Available

Gene Ontology (GO) - Biological Process for BAIAP2L1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0051017 actin filament bundle assembly IBA --
GO:2000251 positive regulation of actin cytoskeleton reorganization IMP 19366662
genes like me logo Genes that share ontologies with BAIAP2L1: view

No data available for Pathways by source and SIGNOR curated interactions for BAIAP2L1 Gene

Drugs & Compounds for BAIAP2L1 Gene

(16) Drugs for BAIAP2L1 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(10) Additional Compounds for BAIAP2L1 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with BAIAP2L1: view

Transcripts for BAIAP2L1 Gene

Unigene Clusters for BAIAP2L1 Gene

BAI1-associated protein 2-like 1:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for BAIAP2L1 Gene

No ASD Table

Relevant External Links for BAIAP2L1 Gene

GeneLoc Exon Structure for
BAIAP2L1
ECgene alternative splicing isoforms for
BAIAP2L1

Expression for BAIAP2L1 Gene

mRNA expression in normal human tissues for BAIAP2L1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

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).

Protein differential expression in normal tissues from HIPED for BAIAP2L1 Gene

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, MOPED, and MaxQB for BAIAP2L1 Gene



SOURCE GeneReport for Unigene cluster for BAIAP2L1 Gene Hs.656063

genes like me logo Genes that share expression patterns with BAIAP2L1: view

Primer Products

In Situ Assay Products

No data available for mRNA Expression by UniProt/SwissProt and Protein tissue co-expression partners for BAIAP2L1 Gene

Orthologs for BAIAP2L1 Gene

This gene was present in the common ancestor of animals.

Orthologs for BAIAP2L1 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia BAIAP2L1 35
  • 82.97 (n)
  • 81.6 (a)
BAIAP2L1 36
  • 81 (a)
OneToOne
dog
(Canis familiaris)
Mammalia BAIAP2L1 35
  • 86.76 (n)
  • 89.43 (a)
BAIAP2L1 36
  • 90 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Baiap2l1 35
  • 84.15 (n)
  • 88.8 (a)
Baiap2l1 16
Baiap2l1 36
  • 88 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia BAIAP2L1 35
  • 99.02 (n)
  • 99.41 (a)
BAIAP2L1 36
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Baiap2l1 35
  • 83.24 (n)
  • 87.87 (a)
oppossum
(Monodelphis domestica)
Mammalia BAIAP2L1 36
  • 76 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia BAIAP2L1 36
  • 79 (a)
OneToOne
chicken
(Gallus gallus)
Aves BAIAP2L1 35
  • 70.97 (n)
  • 71.63 (a)
BAIAP2L1 36
  • 71 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia BAIAP2L1 36
  • 67 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia baiap2l1 35
  • 65.08 (n)
  • 63.96 (a)
African clawed frog
(Xenopus laevis)
Amphibia MGC68822 35
zebrafish
(Danio rerio)
Actinopterygii baiap2l1b 35
  • 60.39 (n)
  • 60.04 (a)
loc55971 35
baiap2l1a 36
  • 67 (a)
OneToMany
baiap2l1b 36
  • 55 (a)
OneToMany
FP340264.1 36
  • 78 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta CG32082 36
  • 12 (a)
OneToMany
Species with no ortholog for BAIAP2L1:
  • 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)

Evolution for BAIAP2L1 Gene

ENSEMBL:
Gene Tree for BAIAP2L1 (if available)
TreeFam:
Gene Tree for BAIAP2L1 (if available)

Paralogs for BAIAP2L1 Gene

Paralogs for BAIAP2L1 Gene

(2) SIMAP similar genes for BAIAP2L1 Gene using alignment to 1 proteins:

Pseudogenes.org Pseudogenes for BAIAP2L1 Gene

genes like me logo Genes that share paralogs with BAIAP2L1: view

Variants for BAIAP2L1 Gene

Sequence variations from dbSNP and Humsavar for BAIAP2L1 Gene

SNP ID Clin Chr 07 pos Sequence Context AA Info Type
VAR_033515 -
rs1076272 -- 98,401,693(+) GGCTG(C/G)CACTT upstream-variant-2KB
rs1541409 -- 98,398,268(+) TTAAG(C/T)TTAAA intron-variant
rs1622102 -- 98,352,107(+) GTCCA(C/T)GACTC intron-variant
rs1623690 -- 98,386,720(+) TTTGG(A/G/T)GACAG intron-variant

Structural Variations from Database of Genomic Variants (DGV) for BAIAP2L1 Gene

Variant ID Type Subtype PubMed ID
nsv888760 CNV Loss 21882294
nsv831067 CNV Loss 17160897
esv2670498 CNV Deletion 23128226
nsv888766 CNV Gain 21882294
esv2667839 CNV Deletion 23128226
esv2657368 CNV Deletion 23128226
nsv5860 CNV Loss 18451855
esv1113502 CNV Deletion 17803354
esv27479 CNV Gain 19812545

Variation tolerance for BAIAP2L1 Gene

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

HapMap Linkage Disequilibrium report
BAIAP2L1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for BAIAP2L1 Gene

Disorders for BAIAP2L1 Gene

MalaCards: The human disease database

(1) MalaCards diseases for BAIAP2L1 Gene - From: Novoseek

Disorder Aliases PubMed IDs
diabetes mellitus, noninsulin-dependent
  • diabetes mellitus, noninsulin-dependent, 2
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for BAIAP2L1

Genetic Association Database (GAD)
BAIAP2L1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
BAIAP2L1
genes like me logo Genes that share disorders with BAIAP2L1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for BAIAP2L1 Gene

Publications for BAIAP2L1 Gene

  1. Characterisation of IRTKS, a novel IRSp53/MIM family actin regulator with distinct filament bundling properties. (PMID: 17430976) Millard T.H. … Machesky L.M. (J. Cell Sci. 2007) 3 4 67
  2. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 3
  3. The EHEC-host interactome reveals novel targets for the translocated intimin receptor. (PMID: 25519916) Blasche S. … Koegl M. (Sci Rep 2014) 3
  4. Oncogenic FGFR3 gene fusions in bladder cancer. (PMID: 23175443) Williams S.V. … Knowles M.A. (Hum. Mol. Genet. 2013) 3
  5. VCP phosphorylation-dependent interaction partners prevent apoptosis in Helicobacter pylori-infected gastric epithelial cells. (PMID: 23383273) Yu C.C. … Chow L.P. (PLoS ONE 2013) 3

Products for BAIAP2L1 Gene

Sources for BAIAP2L1 Gene

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