• Gene id: 55971

Gene Summary

• Gene Symbol: BAIAP2L1   Gene   UCSC   Ensembl
• Aliases: IRTKS
• Gene name: BAR/IMD domain containing adaptor protein 2 like 1
• Alternate names: brain-specific angiogenesis inhibitor 1-associated protein 2-like protein 1, BAI1 associated protein 2 like 1, BAI1-associated protein 2-like protein 1, insulin receptor tyrosine kinase substrate,
• Gene location: 7q21.3-q22.1 (42932173: 42916860)     Exons: 8     NC_000007.14
• Gene summary(Entrez): 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 th
• OMIM: 611877

Protein Summary

• Protein general information: Q9UHR4  
  • Name: Brain specific angiogenesis inhibitor 1 associated protein 2 like protein 1 (BAI1 associated protein 2 like protein 1) (Insulin receptor tyrosine kinase substrate)
  • Length: 511  
  • Mass: 56883
• Sequence:

  MSRGPEEVNRLTESTYRNVMEQFNPGLRNLINLGKNYEKAVNAMILAGKAYYDGVAKIGEIATGSPVSTELGHVL
  IEISSTHKKLNESLDENFKKFHKEIIHELEKKIELDVKYMNATLKRYQTEHKNKLESLEKSQAELKKIRRKSQGS
  RNALKYEHKEIEYVETVTSRQSEIQKFIADGCKEALLEEKRRFCFLVDKHCGFANHIHYYHLQSAELLNSKLPRW
  QETCVDAIKVPEKIMNMIEEIKTPASTPVSGTPQASPMIERSNVVRKDYDTLSKCSPKMPPAPSGRAYTSPLIDM
  FNNPATAAPNSQRVNNSTGTSEDPSLQRSVSVATGLNMMKKQKVKTIFPHTAGSNKTLLSFAQGDVITLLIPEEK
  DGWLYGEHDVSKARGWFPSSYTKLLEENETEAVTVPTPSPTPVRSISTVNLSENSSVVIPPPDYLECLSMGAAAD
  RRADSARTTSTFKAPASKPETAAPNDANGTAKPPFLSGENPFATVKLRPTVTNDRSAPIIR

• Structural information:
  • Protein Domains: (1..24-)
    (/note="IMD-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00668-)
    (339..40-)
    (/note="SH3-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00192"-)
  • Interpro: IPR027267  IPR013606  IPR027681  IPR030060  IPR035592   IPR036028  IPR001452  
  • Prosite: PS51338 PS50002
  • CDD: cd11913
  • PDB: 2KXC 2LNH
  • PDBsum: 2KXC 2LNH
  • DIP: 53820
  • STRING: ENSP00000005260
• Other Databases: GeneCards:  BAIAP2L1  Malacards:  BAIAP2L1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005829	cytosol	IBA	cellular component
GO:0005654	nucleoplasm	IBA	cellular component
GO:2000251	positive regulation of actin cytoskeleton reorganization	IBA	biological process
GO:0051764	actin crosslink formation	IBA	biological process
GO:0051017	actin filament bundle assembly	IBA	biological process
GO:0030838	positive regulation of actin filament polymerization	IBA	biological process
GO:0015629	actin cytoskeleton	IDA	colocalizes with
GO:0009617	response to bacterium	IDA	biological process
GO:0005829	cytosol	IDA	cellular component
GO:0070064	proline-rich region binding	IDA	molecular function
GO:0030838	positive regulation of actin filament polymerization	IDA	biological process
GO:2000251	positive regulation of actin cytoskeleton reorganization	IMP	biological process
GO:0046626	regulation of insulin receptor signaling pathway	IEA	biological process
GO:0007009	plasma membrane organization	IEA	biological process
GO:0030833	regulation of actin filament polymerization	IEA	biological process
GO:0003779	actin binding	IEA	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0005856	cytoskeleton	IEA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0098641	cadherin binding involved in cell-cell adhesion	HDA	molecular function
GO:0005912	adherens junction	HDA	cellular component
GO:0005856	cytoskeleton	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0005886	plasma membrane	IDA	cellular component
GO:0005829	cytosol	IDA	cellular component
GO:0098609	cell-cell adhesion	IEA	biological process
GO:0070062	extracellular exosome	HDA	cellular component
GO:0070062	extracellular exosome	HDA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa05130	Pathogenic Escherichia coli infection

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200
Spermatogenic defects	MIK: 31037746
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
31037746	Spermatogenic defects			28 men with azoospermia	Male infertility	Microarray