Free for academic non-profit institutions. Other users need a Commercial license

Aliases for BAIAP3 Gene

Aliases for BAIAP3 Gene

  • BAI1 Associated Protein 3 2 3 5
  • BAI1-Associated Protein 3 2 3
  • BAP3 3 4
  • Brain-Specific Angiogenesis Inhibitor I-Associated Protein 3 4
  • BAI-Associated Protein 3 3
  • KIAA0734 4

External Ids for BAIAP3 Gene

Previous GeneCards Identifiers for BAIAP3 Gene

  • GC16P001400
  • GC16P001324
  • GC16P001383

Summaries for BAIAP3 Gene

Entrez Gene Summary for BAIAP3 Gene

  • This p53-target gene encodes a brain-specific angiogenesis inhibitor. The protein is a seven-span transmembrane protein and a member of the secretin receptor family. It interacts with the cytoplasmic region of brain-specific angiogenesis inhibitor 1. This protein also contains two C2 domains, which are often found in proteins involved in signal transduction or membrane trafficking. Its expression pattern and similarity to other proteins suggest that it may be involved in synaptic functions. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2010]

GeneCards Summary for BAIAP3 Gene

BAIAP3 (BAI1 Associated Protein 3) is a Protein Coding gene. Diseases associated with BAIAP3 include Alpha Thalassemia-Intellectual Disability Syndrome Type 1. Among its related pathways are Transcriptional misregulation in cancer. Gene Ontology (GO) annotations related to this gene include protein C-terminus binding. An important paralog of this gene is UNC13D.

UniProtKB/Swiss-Prot for BAIAP3 Gene

  • Functions in endosome to Golgi retrograde transport. In response to calcium influx, may interact with SNARE fusion receptors and membrane phospholipids to mediate endosome fusion with the trans-Golgi network. By promoting the recycling of secretory vesicle transmembrane proteins, it indirectly controls dense-core secretory vesicle biogenesis, maturation and their ability to mediate the constitutive and regulated secretion of neurotransmitters and hormones. May regulate behavior and food intake by controlling calcium-stimulated exocytosis of neurotransmitters including NPY and serotonin and hormones like insulin (PubMed:28626000). Proposed to play a role in hypothalamic neuronal firing by modulating gamma-aminobutyric acid (GABA)ergic inhibitory neurotransmission (By similarity).

Gene Wiki entry for BAIAP3 Gene

Additional gene information for BAIAP3 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for BAIAP3 Gene

Genomics for BAIAP3 Gene

GeneHancer (GH) Regulatory Elements for BAIAP3 Gene

Promoters and enhancers for BAIAP3 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH16J001330 Promoter/Enhancer 2.2 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 673.3 -0.8 -764 5.1 PKNOX1 FOXA2 ZFP64 ARID4B SIN3A ETS1 ZNF280A GLIS2 CBX5 ZNF143 BAIAP3 UBE2I MAPK8IP3 UNKL SPSB3 EME2 RPS20P2
GH16J001350 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 14.5 +18.1 18101 2.6 MLX ARNT ARID4B SIN3A YY1 ZNF207 ZNF143 FOS CEBPZ ZHX2 GNPTG TSR3 WDR90 CRAMP1 TELO2 TSC2 UBE2I ENSG00000261505 E4F1 ENSG00000260051
GH16J001296 Enhancer 1.5 Ensembl ENCODE dbSUPER 17.2 -34.4 -34417 5.3 HDGF PKNOX1 CLOCK FOXA2 ARID4B NEUROD1 SIN3A ZBTB7B YY1 ZNF766 ENSG00000260710 ENSG00000261505 UBE2I ENSG00000260051 RHOT2 E4F1 TELO2 SNORA64 UNKL ENSG00000255513
GH16J001342 Promoter/Enhancer 1.6 Ensembl ENCODE dbSUPER 14.9 +9.4 9379 1.5 HDGF PKNOX1 ATF1 ARID4B SIN3A ZNF2 ZBTB7B YY1 GLIS2 ZNF143 GC16M001350 LOC102724014 TBL3 BAIAP3 WDR90 GNPTG CRAMP1 ENSG00000261207 WDR24 ENSG00000260051
GH16J001377 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE dbSUPER 9.1 +45.2 45240 3.3 HDGF PKNOX1 ARNT ARID4B SIN3A DMAP1 ZNF2 POLR2B ZNF766 CBX5 UNKL CHTF18 CCDC154 IFT140 CRAMP1 UBE2I TELO2 TSC2 E4F1 GNPTG
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around BAIAP3 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the BAIAP3 gene promoter:

Genomic Locations for BAIAP3 Gene

Genomic Locations for BAIAP3 Gene
chr16:1,333,601-1,349,441
(GRCh38/hg38)
Size:
15,841 bases
Orientation:
Plus strand
chr16:1,383,602-1,399,442
(GRCh37/hg19)

Genomic View for BAIAP3 Gene

Genes around BAIAP3 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
BAIAP3 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for BAIAP3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for BAIAP3 Gene

Proteins for BAIAP3 Gene

  • Protein details for BAIAP3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O94812-BAIP3_HUMAN
    Recommended name:
    BAI1-associated protein 3
    Protein Accession:
    O94812
    Secondary Accessions:
    • A2A2B2
    • B2RCD7
    • B4DGS5
    • B4DIK3
    • B4DRK9
    • B4DRP1
    • E7EUB9
    • H3BUH8
    • H3BVI3
    • H7C2Q1
    • O94839
    • Q2M226
    • Q658J2
    • Q76N05
    • Q96RZ3
    • Q9UJK1

    Protein attributes for BAIAP3 Gene

    Size:
    1187 amino acids
    Molecular mass:
    131901 Da
    Quaternary structure:
    • Interacts with ADGRB1; this interaction is direct (PubMed:9790924). Interacts with endosomal SNARE proteins VAMP3, VAMP4, STX6 and STX16; this interaction is increased in the presence of calcium (PubMed:28626000).
    SequenceCaution:
    • Sequence=BAA34454.2; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305}; Sequence=BAG57886.1; Type=Erroneous termination; Positions=717; Note=Translated as Gly.; Evidence={ECO:0000305};

    Alternative splice isoforms for BAIAP3 Gene

neXtProt entry for BAIAP3 Gene

Post-translational modifications for BAIAP3 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for BAIAP3 Gene

Domains & Families for BAIAP3 Gene

Gene Families for BAIAP3 Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Suggested Antigen Peptide Sequences for BAIAP3 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

O94812

UniProtKB/Swiss-Prot:

BAIP3_HUMAN :
  • Belongs to the unc-13 family.
Family:
  • Belongs to the unc-13 family.
genes like me logo Genes that share domains with BAIAP3: view

Function for BAIAP3 Gene

Molecular function for BAIAP3 Gene

UniProtKB/Swiss-Prot Function:
Functions in endosome to Golgi retrograde transport. In response to calcium influx, may interact with SNARE fusion receptors and membrane phospholipids to mediate endosome fusion with the trans-Golgi network. By promoting the recycling of secretory vesicle transmembrane proteins, it indirectly controls dense-core secretory vesicle biogenesis, maturation and their ability to mediate the constitutive and regulated secretion of neurotransmitters and hormones. May regulate behavior and food intake by controlling calcium-stimulated exocytosis of neurotransmitters including NPY and serotonin and hormones like insulin (PubMed:28626000). Proposed to play a role in hypothalamic neuronal firing by modulating gamma-aminobutyric acid (GABA)ergic inhibitory neurotransmission (By similarity).
GENATLAS Biochemistry:
brain-specific angiogenesis inhibitor (BAI1)-associated protein 3,predominantly expressed in brain,homolog to synaptotagmin,potentially regulating the release of neurotransmitters

Phenotypes From GWAS Catalog for BAIAP3 Gene

Gene Ontology (GO) - Molecular Function for BAIAP3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000149 SNARE binding IPI 28626000
GO:0005509 calcium ion binding IDA 28626000
GO:0005543 phospholipid binding IDA 28626000
GO:0008022 protein C-terminus binding TAS 9790924
GO:0019905 syntaxin binding IPI 28626000
genes like me logo Genes that share ontologies with BAIAP3: view
genes like me logo Genes that share phenotypes with BAIAP3: view

Animal Models for BAIAP3 Gene

MGI Knock Outs for BAIAP3:

Animal Model Products

CRISPR Products

miRNA for BAIAP3 Gene

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for BAIAP3 Gene

Localization for BAIAP3 Gene

Subcellular locations from UniProtKB/Swiss-Prot for BAIAP3 Gene

Cytoplasm, cytosol. Recycling endosome membrane; Peripheral membrane protein. Late endosome membrane; Peripheral membrane protein. Golgi apparatus, trans-Golgi network membrane; Peripheral membrane protein. Cell membrane; Peripheral membrane protein. Note=Rapidly recruited to the plasma membrane and to Golgi structures in response to increased intracellular calcium concentration. {ECO:0000269 PubMed:28626000}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for BAIAP3 gene
Compartment Confidence
endoplasmic reticulum 3
nucleus 2
extracellular 1
mitochondrion 1
peroxisome 1
cytosol 1
lysosome 1
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for BAIAP3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005783 endoplasmic reticulum IBA --
GO:0005829 cytosol IDA 28626000
GO:0005886 plasma membrane IDA 28626000
GO:0031045 NOT dense core granule IDA 28626000
GO:0031901 NOT early endosome membrane IDA 28626000
genes like me logo Genes that share ontologies with BAIAP3: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for BAIAP3 Gene

Pathways & Interactions for BAIAP3 Gene

genes like me logo Genes that share pathways with BAIAP3: view

Pathways by source for BAIAP3 Gene

1 KEGG pathway for BAIAP3 Gene

Interacting Proteins for BAIAP3 Gene

Gene Ontology (GO) - Biological Process for BAIAP3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001956 positive regulation of neurotransmitter secretion IMP 28626000
GO:0007186 G-protein coupled receptor signaling pathway IPI 9790924
GO:0007269 neurotransmitter secretion TAS 9790924
GO:0035774 positive regulation of insulin secretion involved in cellular response to glucose stimulus IMP 28626000
GO:0042147 retrograde transport, endosome to Golgi IDA 28626000
genes like me logo Genes that share ontologies with BAIAP3: view

No data available for SIGNOR curated interactions for BAIAP3 Gene

Drugs & Compounds for BAIAP3 Gene

No Compound Related Data Available

Transcripts for BAIAP3 Gene

Unigene Clusters for BAIAP3 Gene

BAI1-associated protein 3:
Representative Sequences:

CRISPR Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for BAIAP3 Gene

ExUns: 1 ^ 2 ^ 3a · 3b ^ 4a · 4b · 4c ^ 5a · 5b ^ 6a · 6b ^ 7a · 7b ^ 8a · 8b · 8c ^ 9 ^ 10 ^ 11a · 11b · 11c ^ 12a · 12b ^ 13a · 13b ^ 14 ^
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:
SP11: -
SP12: - -
SP13: -
SP14: - -
SP15: -
SP16:
SP17:
SP18:
SP19:
SP20:
SP21:
SP22: - -
SP23:
SP24: -

ExUns: 15a · 15b · 15c · 15d ^ 16a · 16b · 16c ^ 17a · 17b ^ 18 ^ 19 ^ 20 ^ 21a · 21b · 21c ^ 22 ^ 23a · 23b ^ 24a · 24b ^ 25a · 25b · 25c ^ 26 ^ 27a · 27b ^
SP1: -
SP2:
SP3:
SP4:
SP5:
SP6:
SP7: -
SP8:
SP9:
SP10:
SP11:
SP12:
SP13:
SP14:
SP15:
SP16:
SP17:
SP18:
SP19:
SP20:
SP21:
SP22:
SP23:
SP24:

ExUns: 28a · 28b · 28c ^ 29 ^ 30a · 30b ^ 31 ^ 32 ^ 33a · 33b ^ 34
SP1:
SP2: -
SP3:
SP4: - -
SP5: -
SP6:
SP7:
SP8:
SP9:
SP10: -
SP11:
SP12:
SP13:
SP14:
SP15:
SP16:
SP17:
SP18:
SP19:
SP20:
SP21:
SP22:
SP23: - - -
SP24:

Relevant External Links for BAIAP3 Gene

GeneLoc Exon Structure for
BAIAP3
ECgene alternative splicing isoforms for
BAIAP3

Expression for BAIAP3 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for BAIAP3 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for BAIAP3 Gene

This gene is overexpressed in Pituitary (x22.4) and Brain - Hypothalamus (x5.6).

Protein differential expression in normal tissues from HIPED for BAIAP3 Gene

This gene is overexpressed in Frontal cortex (26.3), Liver (21.1), Brain (12.2), and Peripheral blood mononuclear cells (9.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for BAIAP3 Gene



Protein tissue co-expression partners for BAIAP3 Gene

NURSA nuclear receptor signaling pathways regulating expression of BAIAP3 Gene:

BAIAP3

SOURCE GeneReport for Unigene cluster for BAIAP3 Gene:

Hs.458427

mRNA Expression by UniProt/SwissProt for BAIAP3 Gene:

O94812-BAIP3_HUMAN
Tissue specificity: Predominantly expressed in brain (PubMed:9790924). Also expressed in nonneural tissues such as breast and testes epithelium (PubMed:12498718).

Evidence on tissue expression from TISSUES for BAIAP3 Gene

  • Nervous system(5)
  • Liver(4.4)
genes like me logo Genes that share expression patterns with BAIAP3: view

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for BAIAP3 Gene

Orthologs for BAIAP3 Gene

This gene was present in the common ancestor of animals.

Orthologs for BAIAP3 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia BAIAP3 34 33
  • 97.7 (n)
OneToOne
cow
(Bos Taurus)
Mammalia BAIAP3 34 33
  • 86.42 (n)
OneToOne
dog
(Canis familiaris)
Mammalia BAIAP3 34 33
  • 85.25 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Baiap3 16 34 33
  • 85.12 (n)
oppossum
(Monodelphis domestica)
Mammalia BAIAP3 34
  • 63 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia BAIAP3 34
  • 57 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia baiap3 33
  • 58.68 (n)
Str.19005 33
zebrafish
(Danio rerio)
Actinopterygii baiap3 34 33
  • 57.73 (n)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP005816 33
  • 50.31 (n)
fruit fly
(Drosophila melanogaster)
Insecta unc-13-4A 34 35 33
  • 48.41 (n)
ManyToMany
CG34349 34
  • 22 (a)
ManyToMany
CG11819 35
  • 22 (a)
worm
(Caenorhabditis elegans)
Secernentea F54G2.1 34 35 33
  • 43.54 (n)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 28 (a)
OneToMany
Species where no ortholog for BAIAP3 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • 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)
  • chicken (Gallus gallus)
  • 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)
  • lizard (Anolis carolinensis)
  • 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)
  • rat (Rattus norvegicus)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • 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)

Evolution for BAIAP3 Gene

ENSEMBL:
Gene Tree for BAIAP3 (if available)
TreeFam:
Gene Tree for BAIAP3 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for BAIAP3: view image

Paralogs for BAIAP3 Gene

Paralogs for BAIAP3 Gene

(1) SIMAP similar genes for BAIAP3 Gene using alignment to 4 proteins:

  • BAIP3_HUMAN
  • A2A2B2_HUMAN
  • H3BPP9_HUMAN
  • H3BV46_HUMAN
genes like me logo Genes that share paralogs with BAIAP3: view

Variants for BAIAP3 Gene

Sequence variations from dbSNP and Humsavar for BAIAP3 Gene

SNP ID Clin Chr 16 pos Variation AA Info Type
rs796052185 likely-benign, Long QT syndrome 1,346,605(+) G/C coding_sequence_variant, missense_variant
rs1000119435 -- 1,347,075(+) T/G intron_variant
rs1000150188 -- 1,333,850(+) G/T genic_upstream_transcript_variant, intron_variant, upstream_transcript_variant
rs1000172157 -- 1,347,211(+) G/A intron_variant
rs1000410815 -- 1,339,167(+) C/T coding_sequence_variant, missense_variant

Structural Variations from Database of Genomic Variants (DGV) for BAIAP3 Gene

Variant ID Type Subtype PubMed ID
dgv1483e59 CNV duplication 20981092
dgv2692n100 CNV gain 25217958
esv2422427 CNV duplication 17116639
esv2750325 CNV deletion 23290073
esv2750326 CNV deletion 23290073
esv2762143 CNV gain 21179565
esv3637613 CNV loss 21293372
nsv1046314 CNV loss 25217958
nsv1117153 CNV tandem duplication 24896259
nsv1125107 CNV deletion 24896259
nsv1138405 CNV deletion 24896259
nsv1148565 CNV insertion 26484159
nsv428316 CNV gain+loss 18775914
nsv471066 CNV loss 18288195
nsv952899 CNV deletion 24416366
nsv974746 CNV duplication 23825009

Variation tolerance for BAIAP3 Gene

Residual Variation Intolerance Score: 38.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 5.32; 70.65% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for BAIAP3 Gene

Human Gene Mutation Database (HGMD)
BAIAP3
SNPedia medical, phenotypic, and genealogical associations of SNPs for
BAIAP3

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for BAIAP3 Gene

Disorders for BAIAP3 Gene

MalaCards: The human disease database

(1) MalaCards diseases for BAIAP3 Gene - From: HGMD and DISEASES

Disorder Aliases PubMed IDs
alpha thalassemia-intellectual disability syndrome type 1
  • alpha thalassemia-intellectual disability syndrome, deletion type
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for BAIAP3

genes like me logo Genes that share disorders with BAIAP3: view

No data available for UniProtKB/Swiss-Prot and Genatlas for BAIAP3 Gene

Publications for BAIAP3 Gene

  1. Cloning and characterization of BAP3 (BAI-associated protein 3), a C2 domain-containing protein that interacts with BAI1. (PMID: 9790924) Shiratsuchi T … Nakamura Y (Biochemical and biophysical research communications 1998) 2 3 4 22 58
  2. BAIAP3, a C2 domain-containing Munc13 protein, controls the fate of dense-core vesicles in neuroendocrine cells. (PMID: 28626000) Zhang X … Martin TFJ (The Journal of cell biology 2017) 3 4 58
  3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 58
  4. The sequence and analysis of duplication-rich human chromosome 16. (PMID: 15616553) Martin J … Pennacchio LA (Nature 2004) 3 4 58
  5. Construction of expression-ready cDNA clones for KIAA genes: manual curation of 330 KIAA cDNA clones. (PMID: 12168954) Nakajima D … Nagase T (DNA research : an international journal for rapid publication of reports on genes and genomes 2002) 3 4 58

Products for BAIAP3 Gene

Sources for BAIAP3 Gene

Content
Loading form....