Brain-specific angiogenesis inhibitor 1

Brain-specific angiogenesis inhibitor 1 is a protein that in humans is encoded by the BAI1 gene.[5][6] It is a member of the adhesion-GPCR family of receptors.[7]

ADGRB1
Identifiers
AliasesADGRB1, BAI1, GDAIF, adhesion G protein-coupled receptor B1
External IDsOMIM: 602682 MGI: 1933736 HomoloGene: 1287 GeneCards: ADGRB1
Gene location (Human)
Chr.Chromosome 8 (human)[1]
Band8q24.3Start142,449,430 bp[1]
End142,545,009 bp[1]
RNA expression pattern
More reference expression data
Orthologs
SpeciesHumanMouse
Entrez

575

107831

Ensembl

ENSG00000181790

ENSMUSG00000034730

UniProt

O14514

Q3UHD1

RefSeq (mRNA)

NM_001702

NM_174991
NM_001359759

RefSeq (protein)

NP_001693

NP_778156
NP_001346688

Location (UCSC)Chr 8: 142.45 – 142.55 MbChr 15: 74.52 – 74.59 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Function

Angiogenesis is controlled by a local balance between stimulators and inhibitors of new vessel growth and is suppressed under normal physiologic conditions. Angiogenesis has been shown to be essential for growth and metastasis of solid tumors. In order to obtain blood supply for their growth, tumor cells are potently angiogenic and attract new vessels as results of increased secretion of inducers and decreased production of endogenous negative regulators. BAI1 contains at least one 'functional' p53-binding site within an intron, and its expression has been shown to be induced by wildtype p53. There are two other brain-specific angiogenesis inhibitor genes, designated BAI2 and BAI3 which along with BAI1 have similar tissue specificities and structures, however only BAI1 is transcriptionally regulated by p53. BAI1 is postulated to be a member of the secretin receptor family, an inhibitor of angiogenesis and a growth suppressor of glioblastomas.[6]

Interactions

Brain-specific angiogenesis inhibitor 1 has been shown to interact with BAIAP3[8] and MAGI1.[9]

Model organisms

Model organisms have been used in the study of BAI1 function. A conditional knockout mouse line called Bai1tm2a(EUCOMM)Wtsi was generated at the Wellcome Trust Sanger Institute.[10] Male and female animals underwent a standardized phenotypic screen[11] to determine the effects of deletion.[12][13][14][15] Additional screens performed: - In-depth immunological phenotyping[16] - in-depth bone and cartilage phenotyping[17]

Bai1 knockout mouse phenotype
CharacteristicPhenotype
All data available at.[11][16][17]
Peripheral blood leukocytes 6 WeeksNormal
Haematology 6 WeeksNormal
InsulinNormal
Homozygous viability at P14Normal
Homozygous FertilityNormal
General ObservationsAbnormal
Body weightNormal
Neurological assessmentNormal
Grip strengthNormal
DysmorphologyNormal
Indirect calorimetryNormal
Glucose tolerance testNormal
Auditory brainstem responseAbnormal
DEXANormal
RadiographyNormal
Eye morphologyNormal
Clinical chemistryNormal
Haematology 16 WeeksAbnormal
Peripheral blood leukocytes 16 WeeksAbnormal
Heart weightNormal
Salmonella infectionNormal
Spleen ImmunophenotypingNormal
Mesenteric Lymph Node ImmunophenotypingNormal
Epidermal Immune CompositionNormal



References

  1. GRCh38: Ensembl release 89: ENSG00000181790 - Ensembl, May 2017
  2. GRCm38: Ensembl release 89: ENSMUSG00000034730 - Ensembl, May 2017
  3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. Shiratsuchi T, Nishimori H, Ichise H, Nakamura Y, Tokino T (Apr 1998). "Cloning and characterization of BAI2 and BAI3, novel genes homologous to brain-specific angiogenesis inhibitor 1 (BAI1)". Cytogenetics and Cell Genetics. 79 (1–2): 103–8. doi:10.1159/000134693. PMID 9533023.
  6. "Entrez Gene: BAI1 brain-specific angiogenesis inhibitor 1".
  7. Stacey M, Yona S (2011). AdhesionGPCRs: Structure to Function (Advances in Experimental Medicine and Biology). Berlin: Springer. ISBN 978-1-4419-7912-4.
  8. Shiratsuchi T, Oda K, Nishimori H, Suzuki M, Takahashi E, Tokino T, Nakamura Y (Oct 1998). "Cloning and characterization of BAP3 (BAI-associated protein 3), a C2 domain-containing protein that interacts with BAI1". Biochemical and Biophysical Research Communications. 251 (1): 158–65. doi:10.1006/bbrc.1998.9408. PMID 9790924.
  9. Shiratsuchi T, Futamura M, Oda K, Nishimori H, Nakamura Y, Tokino T (Jun 1998). "Cloning and characterization of BAI-associated protein 1: a PDZ domain-containing protein that interacts with BAI1". Biochemical and Biophysical Research Communications. 247 (3): 597–604. doi:10.1006/bbrc.1998.8603. PMID 9647739.
  10. Gerdin AK (2010). "The Sanger Mouse Genetics Programme: high throughput characterisation of knockout mice". Acta Ophthalmologica. 88: 925–7. doi:10.1111/j.1755-3768.2010.4142.x.
  11. "International Mouse Phenotyping Consortium".
  12. Skarnes WC, Rosen B, West AP, Koutsourakis M, Bushell W, Iyer V, Mujica AO, Thomas M, Harrow J, Cox T, Jackson D, Severin J, Biggs P, Fu J, Nefedov M, de Jong PJ, Stewart AF, Bradley A (Jun 2011). "A conditional knockout resource for the genome-wide study of mouse gene function". Nature. 474 (7351): 337–42. doi:10.1038/nature10163. PMC 3572410. PMID 21677750.
  13. Dolgin E (Jun 2011). "Mouse library set to be knockout". Nature. 474 (7351): 262–3. doi:10.1038/474262a. PMID 21677718.
  14. Collins FS, Rossant J, Wurst W (Jan 2007). "A mouse for all reasons". Cell. 128 (1): 9–13. doi:10.1016/j.cell.2006.12.018. PMID 17218247.
  15. White JK, Gerdin AK, Karp NA, Ryder E, Buljan M, Bussell JN, Salisbury J, Clare S, Ingham NJ, Podrini C, Houghton R, Estabel J, Bottomley JR, Melvin DG, Sunter D, Adams NC, Sanger Institute Mouse Genetics Project, Tannahill D, Logan DW, Macarthur DG, Flint J, Mahajan VB, Tsang SH, Smyth I, Watt FM, Skarnes WC, Dougan G, Adams DJ, Ramirez-Solis R, Bradley A, Steel KP (2013). "Genome-wide generation and systematic phenotyping of knockout mice reveals new roles for many genes". Cell. 154 (2): 452–64. doi:10.1016/j.cell.2013.06.022. PMC 3717207. PMID 23870131.
  16. "Infection and Immunity Immunophenotyping (3i) Consortium".
  17. "OBCD Consortium".

Further reading

This article incorporates text from the United States National Library of Medicine, which is in the public domain.

This article is issued from Wikipedia. The text is licensed under Creative Commons - Attribution - Sharealike. Additional terms may apply for the media files.