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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

BAIAP3 Gene

protein-coding   GIFtS: 54
GCID: GC16P001383

BAI1-associated protein 3

 Explore 1 disease affiliated with
BAIAP3 via our new
 Human Malady Compendium 
Biological research products
for BAIAP3
    

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section

Aliases
BAI1-Associated Protein 31 2
BAP31 2 3 5
KIAA07341 3
BAI-Associated Protein 32

External Ids:    HGNC: 9481   Entrez Gene: 89382   Ensembl: ENSG000000075167   OMIM: 6040095   UniProtKB: O948123   

Export aliases for BAIAP3 gene to outside databases

Previous GC identifers: GC16P001400 GC16P001324


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for BAIAP3:
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)

Gene Wiki entry for BAIAP3


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000016.9  NC_018927.1  NT_010393.16  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the BAIAP3 gene promoter:
         HEN1   AP-1   p300   ATF-2   c-Jun   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidBAIAP3 promoter sequence
   Search SABiosciences Chromatin IP Primers for BAIAP3

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat BAIAP3


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 16p13.3   Ensembl cytogenetic band:  16p13.3   HGNC cytogenetic band: 16p13.3

BAIAP3 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
BAIAP3 gene location

GeneLoc information about chromosome 16         GeneLoc Exon Structure

GeneLoc location for GC16P001383:  view genomic region     (about GC identifiers)

Start:
1,383,602 bp from pter      End:
1,399,442 bp from pter
Size:
15,841 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: BAIP3_HUMAN, O94812 (See protein sequence)
Recommended Name: BAI1-associated protein 3  
Size: 1187 amino acids; 131901 Da
Subunit: Interacts with BAI1
Sequence caution: Sequence=BAA34454.2; Type=Erroneous initiation;
Secondary accessions: B2RCD7 B4DGS5 B4DIK3 H3BUH8 H3BVI3 O94839 Q2M226 Q658J2 Q76N05 Q96RZ3 Q9UJK1
Alternative splicing: 4 isoforms:  O94812-1   O94812-2   O94812-3   O94812-4   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for BAIAP3: NX_O94812

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_O94812

  • BAIAP3 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins (5 alternative transcripts): 
    NP_001186025.1  NP_001186026.1  NP_001186027.1  NP_001186028.1  NP_003924.2  

    ENSEMBL proteins: 
     ENSP00000407242   ENSP00000380625   ENSP00000458134   ENSP00000457644   ENSP00000324510  
     ENSP00000409533   ENSP00000457947   ENSP00000455414   ENSP00000380626  

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    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    BAIAP3 for domains           About GeneDecksing

    5/6 InterPro domains/families (see all 6):
     IPR014772 Munc13_dom-2
     IPR008973 C2_Ca/lipid-bd_dom_CaLB
     IPR019558 Munc13_subgr_dom-2
     IPR014770 Munc13_1
     IPR018029 C2_membr_targeting

    Graphical View of Domain Structure for InterPro Entry O94812

    ProtoNet protein and cluster: O94812

    2 Blocks protein families:
    IPB000008 C2 domain
    IPB010439 Protein of unknown function DUF1041


    UniProtKB/Swiss-Prot: BAIP3_HUMAN, O94812
    Similarity: Contains 2 C2 domains
    Similarity: Contains 1 MHD1 (MUNC13 homology domain 1) domain
    Similarity: Contains 1 MHD2 (MUNC13 homology domain 2) domain


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section

    Function Summary:
         Genatlas biochemistry entry for BAIAP3:
    brain-specific angiogenesis inhibitor (BAI1)-associated protein 3,predominantly expressed in brain,homolog to
    synaptotagmin,potentially regulating the release of neurotransmitters

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    Gene Ontology (GO): 1 molecular function term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0008022protein C-terminus binding TAS9790924


    BAIAP3 for ontologies           About GeneDecksing


    3 GenomeRNAi human phenotypes for BAIAP3:
     Decreased influenza A H1N1 (A/  Decreased influenza A/WSN/33 r  Increased cell number in G2M,  


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
    About This Section



    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for BAIAP3

    STRING Interaction Network Preview (showing 1 interactants - click image to see more details)

    1 Interacting protein for BAIAP3 (O948123 ENSP000003245104) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    BAI1O145143, ENSP000003130464I2D: score=3 STRING: ENSP00000313046
    About this table

    Gene Ontology (GO): 2 biological process terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0007186G-protein coupled receptor signaling pathway IPI9790924
    GO:0007269neurotransmitter secretion TAS9790924


    BAIAP3 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    BAIAP3 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for BAIAP3
    2 PharmGKB related drug/compound annotations for BAIAP3 gene
    Drug/compound PharmGKB Annotation
    cisplatinCA  
    irinotecanCA  
    About this table

    Search CenterWatch for drugs/clinical trials and news about BAIAP3 / BAIP3 

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for BAIAP3 gene (5 alternative transcripts): 
    NM_001199096.1  NM_001199097.1  NM_001199098.1  NM_001199099.1  NM_003933.4  

    Unigene Cluster for BAIAP3:

    BAI1-associated protein 3
    Hs.458427  [show with all ESTs]
    Unigene Representative Sequence: NM_003933
    16 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000426824 ENST00000565665 ENST00000397488(uc010uuz.2 uc010uva.2 uc021tag.1 uc002clj.3)
    ENST00000562208 ENST00000568887 ENST00000567825(uc010uvb.2) ENST00000324385(uc002clk.2)
    ENST00000421665 ENST00000568198 ENST00000566162 ENST00000561602 ENST00000561793
    ENST00000564213 ENST00000567203 ENST00000566389 ENST00000397489(uc010uvc.1)


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    Inhib. RNA
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    Additional cDNA sequence: 

    AB018277.2 AF038191.1 AK294491.1 AK294576.1 AK294744.1 AK295645.1 AK299309.1 AK299358.1 
    AK315059.1 AL834321.1 BC104966.1 BC112129.1 

    8 DOTS entries:

    DT.75118306  DT.100815748  DT.100815756  DT.95161516  DT.120662077  DT.120662127  DT.92434995  DT.91706459 

    24/87 AceView cDNA sequences (see all 87):

    BP348862 BM827931 AI696810 CB148214 BQ425972 CB153038 AI564977 AB018277 
    CD106045 BM981388 CB155761 BQ277755 BF448577 NM_003933 BI771405 CD251629 
    AI816746 AA782001 BQ632058 AL834321 AW081697 BM828573 BM544695 CD671929 

    GeneLoc Exon Structure

    5/24 Alternative Splicing Database (ASD) splice patterns (SP) for BAIAP3 (see all 24)    About this scheme

    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:                                                                                                                                                            

    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:                                                                                                                                                            

    ExUns: 28a · 28b · 28c ^ 29 ^ 30a · 30b ^ 31 ^ 32 ^ 33a · 33b ^ 34
    SP1:                                                                  
    SP2:  -                                                               
    SP3:                                                                  
    SP4:  -     -                                                         
    SP5:  -                                                               


    ECgene alternative splicing isoforms for BAIAP3

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    BAIAP3 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: --

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)

    About this image
    See BAIAP3 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for BAIAP3

    SOURCE GeneReport for Unigene cluster: Hs.458427

    UniProtKB/Swiss-Prot: BAIP3_HUMAN, O94812
    Tissue specificity: Predominantly expressed in brain

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    In Situ
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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of animals.

    Orthologs for BAIAP3 gene from 5/17 species (see all 17)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Baiap31 , 5 BAI1-associated protein 31, 5 85.12(n)1
    89.12(a)1
      17 (12.53 cM)5
    5451921  NM_001163270.11  NP_001156742.11 
     252434895 
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia Str.190052 Transcribed sequence with weak similarity to protein more 75.47(n)    BX772583.1 
    zebrafish
    (Danio rerio)
    Actinopterygii baiap31 BAI1-associated protein 3 58.35(n)
    50.45(a)
      564728  XM_003198157.1  XP_003198205.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta unc-13-4A1 , 3 neurotransmitter secretion3
    CG32381-PB1
    33(a)
    (best of 2)3
    48.31(n)1
    36.01(a)1
      65F23
    388011  NM_139839.41  NP_648096.41 
    worm
    (Caenorhabditis elegans)
    Secernentea F54G2.11 , 3 Protein F54G2.11 27(a)3
    43.27(n)1
    31.81(a)1
      X(2657047-2666007)3
    1805621  NM_001029540.21  NP_001024711.11 


    ENSEMBL Gene Tree for BAIAP3 (if available)
    TreeFam Gene Tree for BAIAP3 (if available) 

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for BAIAP3 gene
    UNC13C2  UNC13A2  UNC13D2  UNC13B2  
    1 SIMAP similar gene for BAIAP3 using alignment to 6 protein entries:     BAIP3_HUMAN (see all proteins):
    UNC13D

    BAIAP3 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/494 NCBI SNPs in BAIAP3 are shown (see all 494    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 16 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs37599361,2
    C,F,H,--1381680(+) GAAACG/AGAGGC 3 -- us2k112Minor allele frequency- A:0.24EA NS NA WA 2238
    rs109030061,2
    C,H,--1381707(+) ACTCAG/ACCTAT 3 -- us2k112Minor allele frequency- A:0.05NA WA CSA EA 374
    rs9099141,2
    C,F,O,H,--1381714(+) CTATCG/ACTATG 3 -- us2k124Minor allele frequency- A:0.13MN NS EA NA WA CSA 2202
    rs1477317901,2
    --1381772(+) CTAGAA/CAAGAG 3 -- us2k10--------
    rs1425151541,2
    --1381776(+) AAAAGA/CGTGGG 3 -- us2k10--------
    rs1920776221,2
    --1381848(+) CTCTCA/GTAGGG 3 -- us2k10--------
    rs37599371,2
    C,F,H,--1381917(+) CTTCAC/ATTAAA 3 -- us2k123Minor allele frequency- A:0.32EA NS NA WA 4232
    rs42615391,2
    C,F,--1381991(+) AAGACC/TGCAGA 3 -- us2k13Minor allele frequency- T:0.21WA CSA 122
    rs1435336571,2
    C,--1382093(+) TCCCC-/TGCTT 
            
    CCCCC
    3 -- us2k10--------
    rs1829619871,2
    --1382163(+) CCACCA/GGCCTG 3 -- us2k10--------

    HapMap Linkage Disequilibrium report for BAIAP3 (1383602 - 1399442 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 2 variations for BAIAP3
         2 CNVs: 29991 5329

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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

    BAIAP3 for disorders           About GeneDecksing

    OMIM gene information: 604009    OMIM disorders: --

    1 disease for BAIAP3:    About MalaCards
    desmoplastic small round cell tumor


    Export disorders for BAIAP3 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for BAIAP3 gene, integrated from 9 sources (see all 16):
    (articles sorted by number of sources associating them with BAIAP3)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Cloning and characterization of BAP3 (BAI-associated protein 3), a C2 domain-containing protein that interacts with BAI1. (PubMed id 9790924)1, 2, 3, 9 Shiratsuchi T.... Nakamura Y. (1998)
    2. The sequence and analysis of duplication-rich human chromosome 16. (PubMed id 15616553)1, 2 Martin J.... Pennacchio L.A. (2004)
    3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
    4. Construction of expression-ready cDNA clones for KIAA genes: manual curation of 330 KIAA cDNA clones. (PubMed id 12168954)1, 2 Nakajima D.... Nagase T. (2002)
    5. Sequence, structure and pathology of the fully annotated terminal 2 Mb of the short arm of human chromosome 16. (PubMed id 11157797)1, 2 Daniels R.J....Higgs D.R. (2001)
    6. 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)1, 2 Nagase T.... Ohara O. (1998)
    7. The full-ORF clone resource of the German cDNA consortium. (PubMed id 17974005)2 Bechtel S.... Schupp I. (2007)
    8. The LIFEdb database in 2006. (PubMed id 16381901)1 Mehrle A....Wiemann S. (2006)
    9. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)2 Ota T.... Sugano S. (2004)
    10. From ORFeome to biology: a functional genomics pipeline. (PubMed id 15489336)1 Wiemann S....Poustka A. (2004)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 8938 HGNC: 948 AceView: BAIAP3 Ensembl:ENSG00000007516 euGenes: HUgn8938
    ECgene: BAIAP3 H-InvDB: BAIAP3

    (According to HUGE)
    About This Section
    HUGE: KIAA0734

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for BAIAP3 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for BAIAP3 gene:
    Search GeneIP for patents involving BAIAP3

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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    GeneCards Homepage - Last full update: 18 Mar 2013 - Incrementals: 21 Mar 2013 , 15 Apr 2013 , 26 Apr 2013

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