Human Gene BAIAP2L1 (ENST00000005260.9_7) from GENCODE V47lift37
  Description: BAR/IMD domain containing adaptor protein 2 like 1 (from RefSeq NM_018842.5)
Gencode Transcript: ENST00000005260.9_7
Gencode Gene: ENSG00000006453.14_10
Transcript (Including UTRs)
   Position: hg19 chr7:97,920,962-98,030,402 Size: 109,441 Total Exon Count: 14 Strand: -
Coding Region
   Position: hg19 chr7:97,922,833-98,030,164 Size: 107,332 Coding Exon Count: 14 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsOther NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr7:97,920,962-98,030,402)mRNA (may differ from genome)Protein (511 aa)
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UniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: BI2L1_HUMAN
DESCRIPTION: RecName: Full=Brain-specific angiogenesis inhibitor 1-associated protein 2-like protein 1; Short=BAI1-associated protein 2-like protein 1; AltName: Full=Insulin receptor tyrosine kinase substrate;
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.
SUBUNIT: 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.
SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton. Note=Recruited to actin pedestals that are formed upon infection by bacteria at bacterial attachment sites.
DOMAIN: The IMD domain is predicted to have a helical structure. It may induce actin bundling and filopodia formation (By similarity).
PTM: Phosphorylated on tyrosine in response to insulin.
SIMILARITY: Contains 1 IMD (IRSp53/MIM homology) domain.
SIMILARITY: Contains 1 SH3 domain.
SEQUENCE CAUTION: Sequence=AAD20937.1; Type=Erroneous gene model prediction; Sequence=AAS07549.1; Type=Erroneous initiation; Sequence=BAB15671.1; Type=Erroneous initiation;

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: BAIAP2L1
Diseases sorted by gene-association score: diabetes mellitus, noninsulin-dependent (2)

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 25.75 RPKM in Stomach
Total median expression: 229.00 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -113.20238-0.476 Picture PostScript Text
3' UTR -661.401871-0.354 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR013606 - IRSp53/MIM_homology_IMD
IPR011511 - SH3_2
IPR001452 - SH3_domain

Pfam Domains:
PF00018 - SH3 domain
PF07653 - Variant SH3 domain
PF08397 - IRSp53/MIM homology domain
PF14604 - Variant SH3 domain

SCOP Domains:
103657 - BAR/IMD domain-like
50044 - SH3-domain

Protein Data Bank (PDB) 3-D Structure
MuPIT help
2KXC - NMR MuPIT 2LNH - NMR MuPIT


ModBase Predicted Comparative 3D Structure on Q9UHR4
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
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-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0003779 actin binding
GO:0005515 protein binding
GO:0070064 proline-rich region binding
GO:0098641 cadherin binding involved in cell-cell adhesion

Biological Process:
GO:0007009 plasma membrane organization
GO:0008286 insulin receptor signaling pathway
GO:0009617 response to bacterium
GO:0030833 regulation of actin filament polymerization
GO:0030838 positive regulation of actin filament polymerization
GO:0046626 regulation of insulin receptor signaling pathway
GO:0051017 actin filament bundle assembly
GO:0051764 actin crosslink formation
GO:0098609 cell-cell adhesion
GO:2000251 positive regulation of actin cytoskeleton reorganization

Cellular Component:
GO:0005654 nucleoplasm
GO:0005737 cytoplasm
GO:0005829 cytosol
GO:0005856 cytoskeleton
GO:0005886 plasma membrane
GO:0005913 cell-cell adherens junction
GO:0070062 extracellular exosome
GO:0015629 actin cytoskeleton


-  Descriptions from all associated GenBank mRNAs
  AK074419 - Homo sapiens cDNA FLJ23839 fis, clone KAT02564.
AK027142 - Homo sapiens cDNA: FLJ23489 fis, clone LNG00746.
JD179728 - Sequence 160752 from Patent EP1572962.
AF119666 - Homo sapiens insulin receptor tyrosine kinase substrate mRNA, complete cds.
JD534601 - Sequence 515625 from Patent EP1572962.
JD524184 - Sequence 505208 from Patent EP1572962.
AK027109 - Homo sapiens cDNA: FLJ23456 fis, clone HSI07211, highly similar to AF119666 Homo sapiens insulin receptor tyrosine kinase substrate mRNA.
BC013888 - Homo sapiens BAI1-associated protein 2-like 1, mRNA (cDNA clone MGC:11168 IMAGE:3842949), complete cds.
AK124269 - Homo sapiens cDNA FLJ42275 fis, clone TLIVE2001828.
JD258154 - Sequence 239178 from Patent EP1572962.
JD090163 - Sequence 71187 from Patent EP1572962.
EU832667 - Synthetic construct Homo sapiens clone HAIB:100067696; DKFZo008G1131 BAI1-associated protein 2-like 1 protein (BAIAP2L1) gene, encodes complete protein.
EU832746 - Synthetic construct Homo sapiens clone HAIB:100067775; DKFZo004G1132 BAI1-associated protein 2-like 1 protein (BAIAP2L1) gene, encodes complete protein.
AK309936 - Homo sapiens cDNA, FLJ99977.

-  Other Names for This Gene
  Alternate Gene Symbols: A4D268, BI2L1_HUMAN, ENST00000005260.1, ENST00000005260.2, ENST00000005260.3, ENST00000005260.4, ENST00000005260.5, ENST00000005260.6, ENST00000005260.7, ENST00000005260.8, IRTKS, NM_018842, Q75L21, Q75L22, Q96CV4, Q9H5F5, Q9UHR4, Q9Y2M8, uc317bvq.1, uc317bvq.2
UCSC ID: ENST00000005260.9_7
RefSeq Accession: NM_018842.5
Protein: Q9UHR4 (aka BI2L1_HUMAN)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.