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

Gene ID: 8938, updated on 11-Jun-2021

Summary

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
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
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Genomic context

See BAIAP3 in Genome Data Viewer
Location:
16p13.3
Exon count:
36
Annotation release Status Assembly Chr Location
109.20210514 current GRCh38.p13 (GCF_000001405.39) 16 NC_000016.10 (1333645..1349439)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (1383646..1399440)

Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene ubiquitin conjugating enzyme E2 I Neighboring gene ribosomal protein S20 pseudogene 2 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

Expression

  • Project title: 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • KIAA0734, MGC138334

Gene Ontology Provided by GOA

Function Evidence Code Pubs
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 
Component Evidence Code Pubs
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 
located_in late endosome membrane IDA
Inferred from Direct Assay
more info
PubMed 
located_in plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
located_in presynapse IEA
Inferred from Electronic Annotation
more info
 
located_in recycling endosome membrane IDA
Inferred from Direct Assay
more info
PubMed 
located_in trans-Golgi network membrane IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

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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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_001199096.2NP_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/Swiss-Prot
    O94812
    Related
    ENSP00000409533.2, ENST00000421665.6
    Conserved Domains (3) summary
    cd04009
    Location:9391073
    C2B_Munc13-like; C2 domain second repeat in Munc13 (mammalian uncoordinated)-like proteins
    cd08676
    Location:133264
    C2A_Munc13-like; C2 domain first repeat in Munc13 (mammalian uncoordinated)-like proteins
    pfam10540
    Location:819920
    Membr_traf_MHD; Munc13 (mammalian uncoordinated) homology domain
  2. NM_001199097.2NP_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/Swiss-Prot
    O94812
    Related
    ENSP00000407242.4, ENST00000426824.8
    Conserved Domains (3) summary
    cd04009
    Location:9751109
    C2B_Munc13-like; C2 domain second repeat in Munc13 (mammalian uncoordinated)-like proteins
    cd08676
    Location:133332
    C2A_Munc13-like; C2 domain first repeat in Munc13 (mammalian uncoordinated)-like proteins
    pfam10540
    Location:855956
    Membr_traf_MHD; Munc13 (mammalian uncoordinated) homology domain
  3. NM_001199098.2NP_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/Swiss-Prot
    O94812
    Related
    ENSP00000458134.1, ENST00000562208.5
    Conserved Domains (3) summary
    cd04009
    Location:9521086
    C2B_Munc13-like; C2 domain second repeat in Munc13 (mammalian uncoordinated)-like proteins
    cd08676
    Location:110309
    C2A_Munc13-like; C2 domain first repeat in Munc13 (mammalian uncoordinated)-like proteins
    pfam10540
    Location:832933
    Membr_traf_MHD; Munc13 (mammalian uncoordinated) homology domain
  4. NM_001199099.2NP_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/Swiss-Prot
    O94812
    Related
    ENSP00000457644.1, ENST00000568887.5
    Conserved Domains (3) summary
    cd04009
    Location:9471081
    C2B_Munc13-like; C2 domain second repeat in Munc13 (mammalian uncoordinated)-like proteins
    cd08676
    Location:105304
    C2A_Munc13-like; C2 domain first repeat in Munc13 (mammalian uncoordinated)-like proteins
    pfam10540
    Location:827928
    Membr_traf_MHD; Munc13 (mammalian uncoordinated) homology domain
  5. NM_001286464.2NP_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
    Related
    ENSP00000380625.2, ENST00000397488.6
    Conserved Domains (4) summary
    cd04009
    Location:9921126
    C2B_Munc13-like; C2 domain second repeat in Munc13 (mammalian uncoordinated)-like proteins
    cd08676
    Location:150349
    C2A_Munc13-like; C2 domain first repeat in Munc13 (mammalian uncoordinated)-like proteins
    PHA03377
    Location:4128
    PHA03377; EBNA-3C; Provisional
    pfam10540
    Location:871973
    Membr_traf_MHD; Munc13 (mammalian uncoordinated) homology domain
  6. NM_003933.5NP_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
    O94812
    Related
    ENSP00000324510.5, ENST00000324385.9
    Conserved Domains (3) summary
    cd04009
    Location:10101144
    C2B_Munc13-like; C2 domain second repeat in Munc13 (mammalian uncoordinated)-like proteins
    cd08676
    Location:168367
    C2A_Munc13-like; C2 domain first repeat in Munc13 (mammalian uncoordinated)-like proteins
    pfam10540
    Location:890991
    Membr_traf_MHD; Munc13 (mammalian uncoordinated) homology domain

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000016.10 Reference GRCh38.p13 Primary Assembly

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

mRNA and Protein(s)

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

    Conserved Domains (3) summary
    cd04009
    Location:10271161
    C2B_Munc13-like; C2 domain second repeat in Munc13 (mammalian uncoordinated)-like proteins
    cd08676
    Location:185384
    C2A_Munc13-like; C2 domain first repeat in Munc13 (mammalian uncoordinated)-like proteins
    pfam10540
    Location:9071008
    Membr_traf_MHD; Munc13 (mammalian uncoordinated) homology domain
  2. XM_011522730.2XP_011521032.1  BAI1-associated protein 3 isoform X3

    Conserved Domains (3) summary
    cd04009
    Location:10271149
    C2B_Munc13-like; C2 domain second repeat in Munc13 (mammalian uncoordinated)-like proteins
    cd08676
    Location:185384
    C2A_Munc13-like; C2 domain first repeat in Munc13 (mammalian uncoordinated)-like proteins
    pfam10540
    Location:9071008
    Membr_traf_MHD; Munc13 (mammalian uncoordinated) homology domain
  3. XM_011522729.1XP_011521031.1  BAI1-associated protein 3 isoform X2

    Conserved Domains (3) summary
    cd04009
    Location:10271139
    C2B_Munc13-like; C2 domain second repeat in Munc13 (mammalian uncoordinated)-like proteins
    cd08676
    Location:185384
    C2A_Munc13-like; C2 domain first repeat in Munc13 (mammalian uncoordinated)-like proteins
    pfam10540
    Location:9071008
    Membr_traf_MHD; Munc13 (mammalian uncoordinated) homology domain
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