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Aliases for BAIAP2L1 Gene

Aliases for BAIAP2L1 Gene

  • BAI1-Associated Protein 2-Like 1 2 3
  • IRTKS 3 4 6
  • Insulin Receptor Tyrosine Kinase Substrate 3 4
  • BAI1-Associated Protein 2-Like Protein 1 3 4
  • Brain-Specific Angiogenesis Inhibitor 1-Associated Protein 2-Like Protein 1 3

External Ids for BAIAP2L1 Gene

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 leprechaunism. 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

Genomic Location for BAIAP2L1 Gene

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

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for BAIAP2L1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for BAIAP2L1 Gene

Regulatory Elements 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:

No data available for DME Specific Peptides for BAIAP2L1 Gene

Domains for BAIAP2L1 Gene

UniProtKB/Swiss-Prot:

BI2L1_HUMAN
Domain:
  • The IMD domain is predicted to have a helical structure. It may induce actin bundling and filopodia formation (By similarity).:
    • Q9UHR4
  • Contains 1 IMD (IRSp53/MIM homology) domain.:
    • Q9UHR4
  • Contains 1 SH3 domain.:
    • Q9UHR4
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 --
GO:0005515 protein binding IPI 25519916
GO:0008093 cytoskeletal adaptor activity IBA --
GO:0017124 SH3 domain binding --
GO:0070064 proline-rich region binding IDA 21098279
genes like me logo Genes that share ontologies with BAIAP2L1: view

Phenotypes for BAIAP2L1 Gene

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

No data available for Enzyme Numbers (IUBMB) , Animal Models , miRNA , Transcription Factor Targeting 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
cytoskeleton 5
cytosol 5
nucleus 4
plasma membrane 4

Gene Ontology (GO) - Cellular Components for BAIAP2L1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus --
GO:0005654 nucleoplasm IDA --
GO:0005737 cytoplasm IDA --
GO:0005829 cytosol IDA 19366662
GO:0005886 plasma membrane IDA --
genes like me logo Genes that share ontologies with BAIAP2L1: view

Pathways 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:0007009 plasma membrane organization IEA --
GO:0007165 signal transduction --
GO:0008286 insulin receptor signaling pathway IBA --
GO:0009617 response to bacterium IDA 19366662
GO:0030838 positive regulation of actin filament polymerization IDA 21098279
genes like me logo Genes that share ontologies with BAIAP2L1: view

No data available for Pathways by source for BAIAP2L1 Gene

Compounds for BAIAP2L1 Gene

(26) Novoseek inferred chemical compound relationships for BAIAP2L1 Gene

Compound -log(P) Hits PubMed IDs
tyrosine 87 190
phosphatidylinositol 65 19
phosphotyrosine 62.7 3
glucose 54.3 22
vanadate 53.7 3
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 (4.5), Pancreas (4.5), and Esophagus - Mucosa (4.3).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for BAIAP2L1 Gene

SOURCE GeneReport for Unigene cluster for BAIAP2L1 Gene Hs.656063

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

Orthologs for BAIAP2L1 Gene

This gene was present in the common ancestor of animals.

Orthologs for BAIAP2L1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia BAIAP2L1 36
  • 99.02 (n)
  • 99.41 (a)
BAIAP2L1 37
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia BAIAP2L1 36
  • 82.97 (n)
  • 81.6 (a)
BAIAP2L1 37
  • 81 (a)
OneToOne
dog
(Canis familiaris)
Mammalia BAIAP2L1 36
  • 86.76 (n)
  • 89.43 (a)
BAIAP2L1 37
  • 90 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Baiap2l1 36
  • 84.15 (n)
  • 88.8 (a)
Baiap2l1 16
Baiap2l1 37
  • 88 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia BAIAP2L1 37
  • 76 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia BAIAP2L1 37
  • 79 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Baiap2l1 36
  • 83.24 (n)
  • 87.87 (a)
chicken
(Gallus gallus)
Aves BAIAP2L1 36
  • 70.97 (n)
  • 71.63 (a)
BAIAP2L1 37
  • 71 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia BAIAP2L1 37
  • 67 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia MGC68822 36
tropical clawed frog
(Silurana tropicalis)
Amphibia baiap2l1 36
  • 65.08 (n)
  • 63.96 (a)
zebrafish
(Danio rerio)
Actinopterygii baiap2l1a 37
  • 67 (a)
OneToMany
baiap2l1b 36
  • 60.39 (n)
  • 60.04 (a)
baiap2l1b 37
  • 55 (a)
OneToMany
FP340264.1 37
  • 78 (a)
OneToMany
loc55971 36
fruit fly
(Drosophila melanogaster)
Insecta CG32082 37
  • 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

Selected 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 MAF
rs1076272 -- 98,401,693(+) GGCTG(C/G)CACTT upstream-variant-2KB
rs1468339 -- 98,358,189(+) CTTCT(C/T)GGTCT intron-variant
rs1468340 -- 98,358,364(+) TGTTT(G/T)TTTTT intron-variant
rs1468341 -- 98,358,384(+) TCAGC(A/G)TCTCA intron-variant
rs1541409 -- 98,398,268(+) TTAAG(C/T)TTAAA 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

Relevant External Links for BAIAP2L1 Gene

HapMap Linkage Disequilibrium report
BAIAP2L1

Disorders for BAIAP2L1 Gene

(1) MalaCards Diseases for BAIAP2L1 Gene

Search for BAIAP2L1 Gene in MalaCards »

(1) University of Copenhagen DISEASES for BAIAP2L1 Gene

(14) Novoseek inferred disease relationships for BAIAP2L1 Gene

Disease -log(P) Hits PubMed IDs
leprechaunism 65.6 1
insulin resistance 64.8 20
insulin sensitivity 60.3 7
niddm 59.5 20
drpla 55 2

Relevant External Links for BAIAP2L1

Genetic Association Database (GAD)
BAIAP2L1
genes like me logo Genes that share disorders with BAIAP2L1: view

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

Publications for BAIAP2L1 Gene

  1. Human chromosome 7: DNA sequence and biology. (PMID: 12690205) Scherer S.W. … Tsui L.-C. (Science 2003) 3 4
  2. The DNA sequence of human chromosome 7. (PMID: 12853948) Hillier L.W. … Wilson R.K. (Nature 2003) 3 4
  3. Gene expression profiling in the human hypothalamus-pituitary-adrenal axis and full-length cDNA cloning. (PMID: 10931946) Hu R.-M. … Chen J.-L. (Proc. Natl. Acad. Sci. U.S.A. 2000) 3 4
  4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4
  5. Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PMID: 17081983) Olsen J.V. … Mann M. (Cell 2006) 3 4

Products for BAIAP2L1 Gene

  • antibodies-online proteins for BAIAP2L1
  • antibodies-online antibodies for BAIAP2L1
  • antibodies-online kits for BAIAP2L1

Sources for BAIAP2L1 Gene

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