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

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; 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

Location:: 16p13.3

Exon count:: 36

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	16	NC_000016.10 (1333645..1349439)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	16	NC_060940.1 (1349821..1365616)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	16	NC_000016.9 (1383646..1399440)

Chromosome 16 - NC_000016.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
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.
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)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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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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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

NG_033974.2 RefSeqGene

Range

5041..20835

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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
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
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
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
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
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_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000016.10 Reference GRCh38.p14 Primary Assembly

Range

1333645..1349439

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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
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
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

NC_060940.1 Alternate T2T-CHM13v2.0

Range

1349821..1365616

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

UniProtKB/TrEMBL

A0AA34QVY1
XM_054314277.1 → XP_054170252.1 BAI1-associated protein 3 isoform X4

UniProtKB/TrEMBL

A0AA34QVY1
XM_054314274.1 → XP_054170249.1 BAI1-associated protein 3 isoform X1

UniProtKB/TrEMBL

A0AA34QW15
XM_054314276.1 → XP_054170251.1 BAI1-associated protein 3 isoform X3

UniProtKB/TrEMBL

A0AA34QVY1
XM_054314275.1 → XP_054170250.1 BAI1-associated protein 3 isoform X2

UniProtKB/TrEMBL

A0AA34QVY1