Details for: BAIAP3

Gene ID: 8938

Gene Type:  Protein-coding  - A gene that serves as a template for producing a messenger RNA (mRNA) molecule, which is then translated into a functional protein.

Symbol: BAIAP3

Ensembl ID: ENSG00000007516

Description: BAI1 associated protein 3

Cell Significance Landscape

Associated with

Significant Cells

Cell Significance Index (CSI) scores for the chosen context(s)

  • squamous epithelial cell CL0000076
    CSI 9
    rCSI 21.36%
    PRS 91.45
  • ciliated epithelial cell CL0000067
    CSI 7.56
    rCSI 6.65%
    PRS 88.18
  • ciliated cell CL0000064
    CSI 7.26
    rCSI 11.76%
    PRS 89.57
  • L2/3-6 intratelencephalic projecting glutamatergic neuron CL4023040
    CSI 5.83
    rCSI 14.16%
    PRS 84.39
  • ependymal cell CL0000065
    CSI 5.54
    rCSI 11.24%
    PRS 81.03
  • multi-ciliated epithelial cell CL0005012
    CSI 4.22
    rCSI 4.21%
    PRS 90.39
  • enteroendocrine cell CL0000164
    CSI 3.97
    rCSI 5.42%
    PRS 92.89
  • type L enteroendocrine cell CL0002279
    CSI 3.13
    rCSI 5.88%
    PRS 95.07
  • sst GABAergic cortical interneuron CL4023017
    CSI 3.13
    rCSI 4.03%
    PRS 87.18
  • pancreatic D cell CL0000173
    CSI 3.13
    rCSI 3.08%
    PRS 95.53
  • cerebral cortex neuron CL0010012
    CSI 2.91
    rCSI 11.87%
    PRS 89.21
  • pvalb GABAergic cortical interneuron CL4023018
    CSI 2.15
    rCSI 2.67%
    PRS 84.18
  • amacrine cell CL0000561
    CSI 2.06
    rCSI 5.96%
    PRS 88.83
  • lung ciliated cell CL1000271
    CSI 1.91
    rCSI 2.21%
    PRS 90.77
  • ciliated columnar cell of tracheobronchial tree CL0002145
    CSI 1.85
    rCSI 4.22%
    PRS 88.86
  • inhibitory interneuron CL0000498
    CSI 1.8
    rCSI 4.15%
    PRS 88.44
  • caudal ganglionic eminence derived cortical interneuron CL4023064
    CSI 1.78
    rCSI 3.14%
    PRS 85.7
  • L6b glutamatergic cortical neuron CL4023038
    CSI 1.63
    rCSI 5.1%
    PRS 87.23
  • enteroendocrine cell of small intestine CL0009006
    CSI 1.49
    rCSI 3.29%
    PRS 95.76
  • lamp5 GABAergic cortical interneuron CL4023011
    CSI 1.46
    rCSI 2.45%
    PRS 86.36
  • astrocyte of the cerebral cortex CL0002605
    CSI 1.37
    rCSI 3.08%
    PRS 86.33
  • sncg GABAergic cortical interneuron CL4023015
    CSI 1.33
    rCSI 2.14%
    PRS 87.14
  • deuterosomal cell CL4033044
    CSI 1.21
    rCSI 4.08%
    PRS 89.62
  • type B pancreatic cell CL0000169
    CSI 1.18
    rCSI 2.62%
    PRS 94.68
  • L5/6 near-projecting glutamatergic neuron CL4030067
    CSI 1.17
    rCSI 3.85%
    PRS 86.27
  • near-projecting glutamatergic cortical neuron CL4023012
    CSI 1.05
    rCSI 3.97%
    PRS 86.4
  • pancreatic PP cell CL0002275
    CSI 0.97
    rCSI 3.85%
    PRS 95.92
  • P/D1 enteroendocrine cell CL0002268
    CSI 0.59
    rCSI 3.21%
    PRS 95.73
  • L5 extratelencephalic projecting glutamatergic cortical neuron CL4023041
    CSI 0.57
    rCSI 2.04%
    PRS 84.69
  • central nervous system neuron CL2000029
    CSI 0.54
    rCSI 3.93%
    PRS 89.5

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this specific cell.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.
Network Configuration

Explore relationships of the current gene. Select an Interaction Source: 'ONTOLOGY' for shared pathways (GO/Reactome) or 'STRING' for protein-protein interactions. Further refine by selecting context genes and comparing Cell Significance Index (CSI) scores between baseline and target cell types and their specific contexts.

Comma-separated if multiple.
Comma-separated if multiple.
Legend:
  • Query Gene
  • Node Color (Target Cell CSI, relative to current network):
    • Very High
    • High
    • Medium
    • Low
    • Very Low
    • CSI N/A
  • Node Size: Proportional to Target Cell CSI magnitude
  • STRING PPI Edge
  • Shared Pathway Edge (ONTOLOGY)

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Other Information

This section provides additional information about the gene, including a description generated by an AI language model and details about associated proteins.

## Summary [BAIAP3](/details-gene/8938) (BAI1 Associated Protein 3) is a protein-coding gene located on chromosome 16p13.3. It encodes a C2 domain-containing protein that functions as a key regulator of regulated exocytosis, particularly in the maturation and secretion of dense-core vesicles ([Link](https://doi.org/10.1083/jcb.201702099)). Functionally, [BAIAP3](/details-gene/8938) is involved in calcium-dependent phospholipid binding and interacts with SNARE complex proteins, positioning it as a critical component of the machinery governing neurotransmitter and hormone release. Its expression profile reflects this role, showing high significance in a range of secretory cell types, including various neurons, epithelial cells, and enteroendocrine cells. ## Cellular Roles and Expression Landscape The expression pattern of [BAIAP3](/details-gene/8938) strongly suggests a specialized role in cells equipped for regulated secretion. **Overall**, the gene shows the highest significance in epithelial lineages and neuronal populations. Its most prominent expression is observed in [squamous epithelial cell](/details-cell/CL0000076) (CSI: 9.00), [ciliated epithelial cell](/details-cell/CL0000067) (CSI: 7.56), and [ciliated cell](/details-cell/CL0000064) (CSI: 7.26), indicating a potentially important function in epithelial barrier function or mucosal secretion. Furthermore, [BAIAP3](/details-gene/8938) is a significant marker in the nervous system. It is highly expressed in specific neuronal subtypes, including [L2/3-6 intratelencephalic projecting glutamatergic neuron](/details-cell/CL4023040) (CSI: 5.83), [sst GABAergic cortical interneuron](/details-cell/CL4023017) (CSI: 3.13), and [pvalb GABAergic cortical interneuron](/details-cell/CL4023018) (CSI: 2.15). This is consistent with its established role in controlling synaptic vesicle fate. The gene also plays a role in neuroendocrine secretion, as evidenced by its significance in [enteroendocrine cell](/details-cell/CL0000164) (CSI: 3.97), [type L enteroendocrine cell](/details-cell/CL0002279) (CSI: 3.13), and [pancreatic D cell](/details-cell/CL0000173) (CSI: 3.13). This pattern underscores its function in modulating hormone release, such as insulin and somatostatin, in response to physiological stimuli. ## Pathways and Molecular Function The functional annotations for [BAIAP3](/details-gene/8938) converge on the regulation of vesicle-mediated transport and secretion. Its molecular functions, including [calcium ion binding (GO:0005509)](https://www.ebi.ac.uk/QuickGO/term/GO:0005509), [phospholipid binding (GO:0005543)](https://www.ebi.ac.uk/QuickGO/term/GO:0005543), and [SNARE binding (GO:0000149)](https://www.ebi.ac.uk/QuickGO/term/GO:0000149), are characteristic of proteins that orchestrate membrane fusion events. The biological processes it participates in are centered on [exocytosis (GO:0006887)](https://www.ebi.ac.uk/QuickGO/term/GO:0006887), with a specific emphasis on [dense core granule maturation (GO:1990502)](https://www.ebi.ac.uk/QuickGO/term/GO:1990502) and [regulation of dense core granule exocytosis (GO:1905413)](https://www.ebi.ac.uk/QuickGO/term/GO:1905413). This is highly consistent with its expression in neuroendocrine cells and neurons, which utilize dense-core vesicles for signaling. Its role extends to [positive regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0035774)](https://www.ebi.ac.uk/QuickGO/term/GO:0035774) and the [regulation of synaptic transmission, gabaergic (GO:0032228)](https://www.ebi.ac.uk/QuickGO/term/GO:0032228), directly linking its molecular function to its observed cellular expression pattern. Cellularly, [BAIAP3](/details-gene/8938) is localized to key compartments of the secretory pathway, including the [dense core granule (GO:0031045)](https://www.ebi.ac.uk/QuickGO/term/GO:0031045), [presynapse (GO:0098793)](https://www.ebi.ac.uk/QuickGO/term/GO:0098793), [GABA-ergic synapse (GO:0098982)](https://www.ebi.ac.uk/QuickGO/term/GO:0098982), and various endosomal and Golgi network membranes, reinforcing its role as a trafficking and secretion regulator. ## Research Directions The established function of [BAIAP3](/details-gene/8938) in regulated exocytosis, combined with its specific expression profile and links to pathology, suggests several avenues for future investigation. **Testable Hypotheses:** 1. **Role in Neurological Disorders:** Given its high expression in GABAergic interneurons and its role in regulating synaptic transmission, it is hypothesized that gain- or loss-of-function variants in [BAIAP3](/details-gene/8938) could disrupt the excitatory/inhibitory balance in the cerebral cortex, potentially contributing to the pathophysiology of disorders such as epilepsy or anxiety. 2. **Contribution to Metabolic Disease:** Its expression in [pancreatic D cell](/details-cell/CL0000173) and its annotated role in regulating insulin secretion suggest a hypothesis where altered [BAIAP3](/details-gene/8938) function impairs somatostatin release, leading to dysregulated insulin and glucagon secretion and contributing to the development of type 2 diabetes. 3. **Involvement in Tumorigenesis:** Research has shown that [BAIAP3](/details-gene/8938) can be induced by the EWS-WT1 oncogenic fusion protein, implicating regulated exocytosis in tumorigenesis ([Link](https://doi.org/10.1016/s1535-6108(02)00205-2)). It is hypothesized that in certain cancers, such as Desmoplastic Small Round Cell Tumors, [BAIAP3](/details-gene/8938) facilitates tumor progression by enhancing the secretion of autocrine growth factors, pro-angiogenic signals, or enzymes that remodel the extracellular matrix. **Proposed Key Experiment:** To test the hypothesis regarding its role in tumorigenesis, one could utilize a Desmoplastic Small Round Cell Tumor (DSRCT) cell line known to express the EWS-WT1 fusion protein. Using CRISPR-Cas9 to knock out [BAIAP3](/details-gene/8938) in these cells would be the first step. The resulting knockout and control cell lines would then be compared for key cancer-related phenotypes, including proliferation rates (via cell counting), invasive potential (using a Matrigel invasion assay), and their ability to form tumors in a xenograft mouse model. Additionally, the secretome of both cell lines could be analyzed using mass spectrometry to identify specific secreted factors whose levels are dependent on [BAIAP3](/details-gene/8938) expression. **Therapeutic Potential:** As an intracellular protein central to the fundamental process of exocytosis, [BAIAP3](/details-gene/8938) presents a challenging therapeutic target. Direct targeting with antibodies is not feasible. However, in contexts where its activity is aberrantly upregulated, such as in EWS-WT1-driven cancers, it could be a candidate for inhibition. A potential strategy would be the development of small molecule inhibitors designed to disrupt its critical protein-protein interactions with components of the SNARE complex. Such a therapeutic would aim to selectively dampen the enhanced secretory phenotype that contributes to the malignancy, representing an inhibition-based strategy.

Genular Protein ID: 3961923787

Symbol: BAIP3_HUMAN

Name: N/A

UniProtKB Accession Codes:

O94812 A2A2B2 B2RCD7 B4DGS5 B4DIK3 B4DRK9 B4DRP1 E7EUB9 H3BUH8 H3BVI3 H7C2Q1 O94839 Q2M226 Q658J2 Q76N05 Q96RZ3 Q9UJK1

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 Bgee 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 6 CDD 2 CTD 1 ChEBI 17 DNASU 1 DisGeNET 1 EMBL 13 Ensembl 6 ExpressionAtlas 1 GO 21 Gene3D 2 GeneCards 1 GeneTree 1 GeneWiki 1 GenomeRNAi 1 HGNC 1 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 6 KEGG 1 MANE-Select 1 MIM 1 MINT 1 MassIVE 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 OrthoDB 1 PANTHER 2 PIR 1 PRO 1 PROSITE 3 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 2 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 7 RNAct 1 RefSeq 6 SMART 1 SMR 1 STRING 1 SUPFAM 1 SignaLink 1 TreeFam 1 UCSC 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 jPOST 1 neXtProt 1

Citations:

PubMed ID: 9790924

Title: Cloning and characterization of BAP3 (BAI-associated protein 3), a C2 domain-containing protein that interacts with BAI1.

PubMed ID: 9790924

DOI: 10.1006/bbrc.1998.9408

PubMed ID: 9872452

Title: Prediction of the coding sequences of unidentified human genes. XI. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro.

PubMed ID: 9872452

DOI: 10.1093/dnares/5.5.277

PubMed ID: 12168954

Title: Construction of expression-ready cDNA clones for KIAA genes: manual curation of 330 KIAA cDNA clones.

PubMed ID: 12168954

DOI: 10.1093/dnares/9.3.99

PubMed ID: 14702039

Title: Complete sequencing and characterization of 21,243 full-length human cDNAs.

PubMed ID: 14702039

DOI: 10.1038/ng1285

PubMed ID: 17974005

Title: The full-ORF clone resource of the German cDNA consortium.

PubMed ID: 17974005

DOI: 10.1186/1471-2164-8-399

PubMed ID: 11157797

Title: Sequence, structure and pathology of the fully annotated terminal 2 Mb of the short arm of human chromosome 16.

PubMed ID: 11157797

DOI: 10.1093/hmg/10.4.339

PubMed ID: 15616553

Title: The sequence and analysis of duplication-rich human chromosome 16.

PubMed ID: 15616553

DOI: 10.1038/nature03187

PubMed ID: 15489334

Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

PubMed ID: 15489334

DOI: 10.1101/gr.2596504

PubMed ID: 12498718

Title: Induction of BAIAP3 by the EWS-WT1 chimeric fusion implicates regulated exocytosis in tumorigenesis.

PubMed ID: 12498718

DOI: 10.1016/s1535-6108(02)00205-2

PubMed ID: 24275569

Title: An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.

PubMed ID: 24275569

DOI: 10.1016/j.jprot.2013.11.014

PubMed ID: 28626000

Title: BAIAP3, a C2 domain-containing Munc13 protein, controls the fate of dense-core vesicles in neuroendocrine cells.

PubMed ID: 28626000

DOI: 10.1083/jcb.201702099

Sequence Information:

  • Length: 1187
  • Mass: 131901
  • Checksum: E38EF36E91BE7DEB
  • Sequence:
    • MRPRGAAFAA GPPGDLHLGT AIGFAGAIWR SRSPAMSTLL DIKSSVLRQV QVCPSFRRRT 
EQDPGSASAD PQEPATGAWK PGDGVEFFAH MRLMLKKGEG RQGLPCLEVP LRSGSPAPPE 
PVDPSLGLRA LAPEEVEMLY EEALYTVLYR AGTMGPDQVD DEEALLSYLQ QVFGTSLEEH 
TEAIERVRKA KAPTYALKVS VMRAKNLLAK DPNGFSDPYC MLGILPASDA TREPRAQKEQ 
RFGFRKGSKR GGPLPAKCIQ VTEVKSSTLN PVWKEHFLFE IEDVSTDQLH LDIWDHDDDV 
SLVEACRKLN EVIGLKGMGR YFKQIVKSAR ANGTAGPTED HTDDFLGCLN IPVREVPVAG 
VDRWFKLEPR SSASRVQGHC HLVLKLITTQ RDTAMSQRGR SGFLSHLLLL SHLLRLEHSA 
EEPNSSSWRG ELSTPAATIL CLHGAQSNLS PLQLAVLHWQ VSSRHHQTCT LDYSYLLGLL 
EDMQAHWEEA PSLPQEQEES LADSLSAFSE FGLQLLRQLR DYFPATNSTA VHRLELLLKC 
LGKLQLFQPS FEICPFESEL NMDIAAALKR GNREWYDRIL NDKSPREQPG PQRLPGLVVL 
ADAVYDDLQF CYSVYASLFH SILNVDVFTL TFRQLERLVA EEAWVLTEEL SPKMTLEVAS 
GLFELYLTLA DLQRFWDSIP GRDSRSLALA GIHAPFLPAV KLWFQVLRDQ AKWRLQGAVD 
MDTLEPVDAS SRHSSSAATA GLCLSHIQEL WVRLAWPDPA QAQGLGTQLG QDVCEATLFY 
TELLRKKVDT QPGAAGEAVS EALCVVLNNV ELVRKAAGQA LKGLAWPEGA TGPEGVLPRP 
LLSCTQALDD DLQREAHTVT AHLTSKMVGD IRKYVQHISL SPDSIQNDEA VAPLMKYLDE 
KLALLNASLV KGNLSRVLEA LWELLLQAIL QALGANRDVS ADFYSRFHFT LEALVSFFHA 
EGQGLPLESL RDGSYKRLKE ELRLHKCSTR ECIEQFYLDK LKQRTLEQNR FGRLSVRCHY 
EAAEQRLAVE VLHAADLLPL DANGLSDPFV IVELGPPHLF PLVRSQRTQV KTRTLHPVYD 
ELFYFSVPAE ACRRRAACVL FTVMDHDWLS TNDFAGEAAL GLGGVTGVAR PQVGGGARAG 
QPVTLHLCRP RAQVRSALRR LEGRTSKEAQ EFVKKLKELE KCMEADP