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    BAIAP3 BAI1 associated protein 3 [ Homo sapiens (human) ]

    Gene ID: 8938, updated on 28-Oct-2024

    Summary

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    Official Symbol
    BAIAP3provided by HGNC
    Official Full Name
    BAI1 associated protein 3provided by HGNC
    Primary source
    HGNC:HGNC:948
    See related
    Ensembl:ENSG00000007516 MIM:604009; AllianceGenome:HGNC:948
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    BAP3
    Summary
    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]
    Expression
    Broad expression in adrenal (RPKM 9.7), brain (RPKM 8.5) and 19 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See BAIAP3 in Genome Data Viewer
    Location:
    16p13.3
    Exon count:
    36
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 16 NC_000016.10 (1333645..1349439)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 16 NC_060940.1 (1349821..1365616)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (1383646..1399440)

    Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10218 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6968 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6969 Neighboring gene H3K27ac hESC enhancer GRCh37_chr16:1360147-1360758 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10219 Neighboring gene ubiquitin conjugating enzyme E2 I Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10220 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10221 Neighboring gene ReSE screen-validated silencer GRCh37_chr16:1382600-1382800 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6970 Neighboring gene ribosomal protein S20 pseudogene 2 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:1388370-1389219 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:1392110-1392658 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6971 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10222 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6972 Neighboring gene TSR3 ribosome maturation factor Neighboring gene N-acetylglucosamine-1-phosphate transferase subunit gamma Neighboring gene unk like zinc finger Neighboring gene tight junction protein 1 pseudogene 1

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. Integrated analysis of microRNA and mRNA expression profiling identifies BAIAP3 as a novel target of dysregulated hsa-miR-1972 in age-related white matter lesions. Huang WQ, et al. Aging (Albany NY), 2021 Feb 9. PMID 33561007, Free PMC Article
    2. Induction of BAIAP3 by the EWS-WT1 chimeric fusion implicates regulated exocytosis in tumorigenesis. Palmer RE, et al. Cancer Cell, 2002 Dec. PMID 12498718
    3. Cloning and characterization of BAP3 (BAI-associated protein 3), a C2 domain-containing protein that interacts with BAI1. Shiratsuchi T, et al. Biochem Biophys Res Commun, 1998 Oct 9. PMID 9790924
    4. Genetic markers of a Munc13 protein family member, BAIAP3, are gender specifically associated with anxiety and benzodiazepine abuse in mice and humans. Wojcik SM, et al. Mol Med, 2013 Jul 24. PMID 23698091, Free PMC Article
    5. BAIAP3, a C2 domain-containing Munc13 protein, controls the fate of dense-core vesicles in neuroendocrine cells. Zhang X, et al. J Cell Biol, 2017 Jul 3. PMID 28626000, Free PMC Article

    See all (22) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Integrated analysis of microRNA and mRNA expression profiling identifies BAIAP3 as a novel target of dysregulated hsa-miR-1972 in age-related white matter lesions.
      Title: Integrated analysis of microRNA and mRNA expression profiling identifies BAIAP3 as a novel target of dysregulated hsa-miR-1972 in age-related white matter lesions.
    2. BAIAP3 functions indirectly in dense-core vesicle exocytosis by affecting DCV maturation through its role in DCV protein recycling.
      Title: BAIAP3, a C2 domain-containing Munc13 protein, controls the fate of dense-core vesicles in neuroendocrine cells.
    3. Baiap3 is gender specifically associated with anxiety and benzodiazepine use disorder.
      Title: Genetic markers of a Munc13 protein family member, BAIAP3, are gender specifically associated with anxiety and benzodiazepine abuse in mice and humans.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • KIAA0734, MGC138334

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables SNARE binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables SNARE binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables SNARE binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables calcium ion binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables phospholipid binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables syntaxin binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    acts_upstream_of_or_within G protein-coupled receptor signaling pathway IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    involved_in dense core granule maturation IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in exocytosis IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in positive regulation of insulin secretion involved in cellular response to glucose stimulus IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in positive regulation of neurotransmitter secretion IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in positive regulation of neurotransmitter secretion IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in regulation of behavior IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in regulation of dense core granule exocytosis IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in regulation of dense core granule exocytosis IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in regulation of synaptic transmission, GABAergic ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in retrograde transport, endosome to Golgi IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in GABA-ergic synapse IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    NOT located_in dense core granule IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    NOT located_in early endosome membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    is_active_in late endosome membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in late endosome membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    is_active_in plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in plasma membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in presynapse IEA
    Inferred from Electronic Annotation
    more info
    		  
    is_active_in recycling endosome membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in recycling endosome membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    is_active_in secretory vesicle IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    is_active_in trans-Golgi network membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in trans-Golgi network membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    BAI1-associated protein 3
    Names
    BAI-associated protein 3
    brain-specific angiogenesis inhibitor I-associated protein 3

    NCBI Reference Sequences (RefSeq)

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    NEW Try the new Transcript table

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_033974.2 RefSeqGene

      Range
      5041..20835
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001199096.2 → NP_001186025.1  BAI1-associated protein 3 isoform 2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR and coding sequence and lacks an alternate in-frame exon compared to variant 1. The resulting isoform (2) is shorter at the N-terminus and lacks an internal segment compared to isoform 1.
      Source sequence(s)
      AB018277, AK299358, AL031709, BF448577
      Consensus CDS
      CCDS55979.1
      UniProtKB/TrEMBL
      A0AA34QW15
      Related
      ENSP00000409533.2, ENST00000421665.6
      Conserved Domains (3) summary
      cd04009
      Location:939 → 1073
      C2B_Munc13-like; C2 domain second repeat in Munc13 (mammalian uncoordinated)-like proteins
      cd08676
      Location:133 → 264
      C2A_Munc13-like; C2 domain first repeat in Munc13 (mammalian uncoordinated)-like proteins
      pfam10540
      Location:819 → 920
      Membr_traf_MHD; Munc13 (mammalian uncoordinated) homology domain

    2. NM_001199097.2 → NP_001186026.1  BAI1-associated protein 3 isoform 3

      See identical proteins and their annotated locations for NP_001186026.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR and coding sequence compared to variant 1. The resulting isoform (3) is shorter at the N-terminus compared to isoform 1.
      Source sequence(s)
      AB018277, AK299309, AL031709, BF448577
      Consensus CDS
      CCDS55978.1
      UniProtKB/TrEMBL
      A0AA34QW15
      Related
      ENSP00000407242.4, ENST00000426824.8
      Conserved Domains (3) summary
      cd04009
      Location:975 → 1109
      C2B_Munc13-like; C2 domain second repeat in Munc13 (mammalian uncoordinated)-like proteins
      cd08676
      Location:133 → 332
      C2A_Munc13-like; C2 domain first repeat in Munc13 (mammalian uncoordinated)-like proteins
      pfam10540
      Location:855 → 956
      Membr_traf_MHD; Munc13 (mammalian uncoordinated) homology domain

    3. NM_001199098.2 → NP_001186027.1  BAI1-associated protein 3 isoform 4

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) differs in the 5' UTR and coding sequence and uses an alternate in-frame splice junction at the 5' end of an exon compared to variant 1. The resulting isoform (4) is shorter at the N-terminus and lacks an internal segment compared to isoform 1.
      Source sequence(s)
      AB018277, AK295645, AL031709, BF448577, DC318470
      Consensus CDS
      CCDS58402.1
      UniProtKB/TrEMBL
      A0AA34QW15
      Related
      ENSP00000458134.1, ENST00000562208.5
      Conserved Domains (3) summary
      cd04009
      Location:952 → 1086
      C2B_Munc13-like; C2 domain second repeat in Munc13 (mammalian uncoordinated)-like proteins
      cd08676
      Location:110 → 309
      C2A_Munc13-like; C2 domain first repeat in Munc13 (mammalian uncoordinated)-like proteins
      pfam10540
      Location:832 → 933
      Membr_traf_MHD; Munc13 (mammalian uncoordinated) homology domain

    4. NM_001199099.2 → NP_001186028.1  BAI1-associated protein 3 isoform 5

      Status: REVIEWED

      Description
      Transcript Variant: This variant (5) differs in the 5' UTR and coding sequence and uses an alternate in-frame splice junction at the 5' end of an exon compared to variant 1. The resulting isoform (5) is shorter at the N-terminus and lacks an internal segment compared to isoform 1.
      Source sequence(s)
      AB018277, AK294744, AL031709, BF448577, DC318470
      Consensus CDS
      CCDS58403.1
      UniProtKB/TrEMBL
      A0AA34QW15
      Related
      ENSP00000457644.1, ENST00000568887.5
      Conserved Domains (3) summary
      cd04009
      Location:947 → 1081
      C2B_Munc13-like; C2 domain second repeat in Munc13 (mammalian uncoordinated)-like proteins
      cd08676
      Location:105 → 304
      C2A_Munc13-like; C2 domain first repeat in Munc13 (mammalian uncoordinated)-like proteins
      pfam10540
      Location:827 → 928
      Membr_traf_MHD; Munc13 (mammalian uncoordinated) homology domain

    5. NM_001286464.2 → NP_001273393.2  BAI1-associated protein 3 isoform 6

      Status: REVIEWED

      Description
      Transcript Variant: This variant (6) differs in the 5' UTR and coding sequence and uses an alternate in-frame splice junction at the 5' end of an exon compared to variant 1. The resulting isoform (6) is shorter at the N-terminus and contains an alternate internal segment compared to isoform 1.
      Source sequence(s)
      AL031709
      Consensus CDS
      CCDS66894.1
      UniProtKB/TrEMBL
      A0AA34QW15
      Related
      ENSP00000380625.2, ENST00000397488.6
      Conserved Domains (4) summary
      cd04009
      Location:992 → 1126
      C2B_Munc13-like; C2 domain second repeat in Munc13 (mammalian uncoordinated)-like proteins
      cd08676
      Location:150 → 349
      C2A_Munc13-like; C2 domain first repeat in Munc13 (mammalian uncoordinated)-like proteins
      PHA03377
      Location:4 → 128
      PHA03377; EBNA-3C; Provisional
      pfam10540
      Location:871 → 973
      Membr_traf_MHD; Munc13 (mammalian uncoordinated) homology domain

    6. NM_003933.5 → NP_003924.2  BAI1-associated protein 3 isoform 1

      See identical proteins and their annotated locations for NP_003924.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
      Source sequence(s)
      AB018277, AK315059, AL031709, BF448577
      Consensus CDS
      CCDS10434.1
      UniProtKB/Swiss-Prot
      A2A2B2, B2RCD7, B4DGS5, B4DIK3, B4DRK9, B4DRP1, E7EUB9, H3BUH8, H3BVI3, H7C2Q1, O94812, O94839, Q2M226, Q658J2, Q76N05, Q96RZ3, Q9UJK1
      UniProtKB/TrEMBL
      A0AA34QW15
      Related
      ENSP00000324510.5, ENST00000324385.9
      Conserved Domains (3) summary
      cd04009
      Location:1010 → 1144
      C2B_Munc13-like; C2 domain second repeat in Munc13 (mammalian uncoordinated)-like proteins
      cd08676
      Location:168 → 367
      C2A_Munc13-like; C2 domain first repeat in Munc13 (mammalian uncoordinated)-like proteins
      pfam10540
      Location:890 → 991
      Membr_traf_MHD; Munc13 (mammalian uncoordinated) homology domain

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000016.10 Reference GRCh38.p14 Primary Assembly

      Range
      1333645..1349439
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011522728.2 → XP_011521030.1  BAI1-associated protein 3 isoform X1

      UniProtKB/TrEMBL
      A0AA34QW15
      Conserved Domains (3) summary
      cd04009
      Location:1027 → 1161
      C2B_Munc13-like; C2 domain second repeat in Munc13 (mammalian uncoordinated)-like proteins
      cd08676
      Location:185 → 384
      C2A_Munc13-like; C2 domain first repeat in Munc13 (mammalian uncoordinated)-like proteins
      pfam10540
      Location:907 → 1008
      Membr_traf_MHD; Munc13 (mammalian uncoordinated) homology domain

    2. XM_011522730.3 → XP_011521032.1  BAI1-associated protein 3 isoform X3

      UniProtKB/TrEMBL
      A0AA34QVY1
      Conserved Domains (3) summary
      cd04009
      Location:1027 → 1149
      C2B_Munc13-like; C2 domain second repeat in Munc13 (mammalian uncoordinated)-like proteins
      cd08676
      Location:185 → 384
      C2A_Munc13-like; C2 domain first repeat in Munc13 (mammalian uncoordinated)-like proteins
      pfam10540
      Location:907 → 1008
      Membr_traf_MHD; Munc13 (mammalian uncoordinated) homology domain

    3. XM_011522729.2 → XP_011521031.1  BAI1-associated protein 3 isoform X2

      UniProtKB/TrEMBL
      A0AA34QVY1
      Conserved Domains (3) summary
      cd04009
      Location:1027 → 1139
      C2B_Munc13-like; C2 domain second repeat in Munc13 (mammalian uncoordinated)-like proteins
      cd08676
      Location:185 → 384
      C2A_Munc13-like; C2 domain first repeat in Munc13 (mammalian uncoordinated)-like proteins
      pfam10540
      Location:907 → 1008
      Membr_traf_MHD; Munc13 (mammalian uncoordinated) homology domain

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060940.1 Alternate T2T-CHM13v2.0

      Range
      1349821..1365616
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054314278.1 → XP_054170253.1  BAI1-associated protein 3 isoform X5

    2. XM_054314277.1 → XP_054170252.1  BAI1-associated protein 3 isoform X4

    3. XM_054314274.1 → XP_054170249.1  BAI1-associated protein 3 isoform X1

    4. XM_054314276.1 → XP_054170251.1  BAI1-associated protein 3 isoform X3

    5. XM_054314275.1 → XP_054170250.1  BAI1-associated protein 3 isoform X2

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    O94812.2 GenPept UniProtKB/Swiss-Prot:O94812

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