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    UNC13B unc-13 homolog B [ Homo sapiens (human) ]

    Gene ID: 10497, updated on 2-Nov-2024

    Summary

    Official Symbol
    UNC13Bprovided by HGNC
    Official Full Name
    unc-13 homolog Bprovided by HGNC
    Primary source
    HGNC:HGNC:12566
    See related
    Ensembl:ENSG00000198722 MIM:605836; AllianceGenome:HGNC:12566
    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
    UNC13; MUNC13; Unc13h2; munc13-2
    Summary
    This gene is expressed in the kidney cortical epithelial cells and is upregulated by hyperglycemia. The encoded protein shares a high level of similarity to the rat homolog, and contains 3 C2 domains and a diacylglycerol-binding C1 domain. Hyperglycemia increases the levels of diacylglycerol, which has been shown to induce apoptosis in cells transfected with this gene and thus contribute to the renal cell complications of hyperglycemia. Studies in other species also indicate a role for this protein in the priming step of synaptic vesicle exocytosis. [provided by RefSeq, Jul 2008]
    Expression
    Broad expression in lung (RPKM 12.8), kidney (RPKM 6.6) and 23 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See UNC13B in Genome Data Viewer
    Location:
    9p13.3
    Exon count:
    47
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 9 NC_000009.12 (35162009..35405335)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 9 NC_060933.1 (35181209..35424479)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 9 NC_000009.11 (35162006..35405332)

    Chromosome 9 - NC_000009.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124902147 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr9:35157812-35158365 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19863 Neighboring gene zinc finger protein 492 pseudogene Neighboring gene Sharpr-MPRA regulatory region 3537 Neighboring gene MPRA-validated peak7230 silencer Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr9:35327315-35328514 Neighboring gene Sharpr-MPRA regulatory region 14419 Neighboring gene OCT4-H3K4me1 hESC enhancer GRCh37_chr9:35373268-35373820 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr9:35397379-35398578 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr9:35403221-35404420 Neighboring gene H3K27ac hESC enhancer GRCh37_chr9:35405745-35406290 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr9:35406291-35406836 Neighboring gene ATPase phospholipid transporting 8B5, pseudogene Neighboring gene zinc finger AN1-type containing 6 pseudogene 1 Neighboring gene ReSE screen-validated silencer GRCh37_chr9:35481926-35482160 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19864 Neighboring gene uncharacterized LOC105376026 Neighboring gene RUN and SH3 domain containing 2

    Genomic regions, transcripts, and products

    Expression

    • 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    EBI GWAS Catalog

    Description
    Genome-wide association study identifies candidate genes for Parkinson's disease in an Ashkenazi Jewish population.
    EBI GWAS Catalog

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • MGC133279, MGC133280

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables GTP-dependent protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables calcium ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables calmodulin binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables calmodulin binding ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    enables diacylglycerol binding NAS
    Non-traceable Author Statement
    more info
    PubMed 
    enables phospholipid binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables small GTPase binding NAS
    Non-traceable Author Statement
    more info
    PubMed 
    enables syntaxin-1 binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    Process Evidence Code Pubs
    involved_in acrosomal vesicle exocytosis IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in cellular response to glucose stimulus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in chemical synaptic transmission ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in dense core granule priming IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in neuronal dense core vesicle exocytosis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in positive regulation of apoptotic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of inhibitory postsynaptic potential ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in positive regulation of protein secretion IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of synaptic vesicle priming ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in presynaptic dense core vesicle exocytosis IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in synaptic transmission, glutamatergic IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in synaptic vesicle docking IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in synaptic vesicle priming IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in synaptic vesicle priming ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    Component Evidence Code Pubs
    located_in Golgi apparatus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in cytosol TAS
    Traceable Author Statement
    more info
     
    located_in membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    is_active_in neuromuscular junction IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    is_active_in plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in plasma membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in presynaptic active zone TAS
    Traceable Author Statement
    more info
    PubMed 
    is_active_in presynaptic active zone cytoplasmic component IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    is_active_in presynaptic membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    is_active_in synaptic vesicle membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    is_active_in terminal bouton IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in terminal bouton ISS
    Inferred from Sequence or Structural Similarity
    more info
     

    General protein information

    Preferred Names
    protein unc-13 homolog B
    Names
    homolog of rat Munc13 (diacylglycerol-binding)
    unc-13-like

    NCBI Reference Sequences (RefSeq)

    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_033014.1 RefSeqGene

      Range
      5018..248344
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001330653.3NP_001317582.1  protein unc-13 homolog B isoform 2

      Status: REVIEWED

      Source sequence(s)
      AL160274, AL353795, AL354669
      Consensus CDS
      CCDS83361.1
      UniProtKB/TrEMBL
      B1AM27
      Related
      ENSP00000479261.1, ENST00000619578.4
      Conserved Domains (6) summary
      cd04027
      Location:600726
      C2B_Munc13; C2 domain second repeat in Munc13 (mammalian uncoordinated) proteins
      cd08394
      Location:1127
      C2A_Munc13; C2 domain first repeat in Munc13 (mammalian uncoordinated) proteins
      cd08395
      Location:14581577
      C2C_Munc13; C2 domain third repeat in Munc13 (mammalian uncoordinated) proteins
      cd00029
      Location:478527
      C1; Protein kinase C conserved region 1 (C1) . Cysteine-rich zinc binding domain. Some members of this domain family bind phorbol esters and diacylglycerol, some are reported to bind RasGTP. May occur in tandem arrangement. Diacylglycerol (DAG) is a second ...
      pfam06292
      Location:9181022
      DUF1041; Domain of Unknown Function (DUF1041)
      pfam10540
      Location:12651401
      Membr_traf_MHD; Munc13 (mammalian uncoordinated) homology domain
    2. NM_001371186.2NP_001358115.1  protein unc-13 homolog B isoform 3

      Status: REVIEWED

      Source sequence(s)
      AL160274, AL353795, AL354669
      UniProtKB/TrEMBL
      Q4LE73
      Conserved Domains (6) summary
      cd04027
      Location:600726
      C2B_Munc13; C2 domain second repeat in Munc13 (mammalian uncoordinated) proteins
      cd08394
      Location:1127
      C2A_Munc13; C2 domain first repeat in Munc13 (mammalian uncoordinated) proteins
      cd08395
      Location:14381557
      C2C_Munc13; C2 domain third repeat in Munc13 (mammalian uncoordinated) proteins
      cd00029
      Location:478527
      C1; Protein kinase C conserved region 1 (C1) . Cysteine-rich zinc binding domain. Some members of this domain family bind phorbol esters and diacylglycerol, some are reported to bind RasGTP. May occur in tandem arrangement. Diacylglycerol (DAG) is a second ...
      pfam06292
      Location:9181019
      DUF1041; Domain of Unknown Function (DUF1041)
      pfam10540
      Location:12641400
      Membr_traf_MHD; Munc13 (mammalian uncoordinated) homology domain
    3. NM_001371187.2NP_001358116.1  protein unc-13 homolog B isoform 4

      Status: REVIEWED

      Source sequence(s)
      AL160274
      Consensus CDS
      CCDS94405.1
      UniProtKB/TrEMBL
      A0A1B0GVW8
      Related
      ENSP00000490683.1, ENST00000636694.1
      Conserved Domains (5) summary
      cd04027
      Location:9801106
      C2B_Munc13; C2 domain second repeat in Munc13 (mammalian uncoordinated) proteins
      cd08395
      Location:18381957
      C2C_Munc13; C2 domain third repeat in Munc13 (mammalian uncoordinated) proteins
      cd00029
      Location:858907
      C1; Protein kinase C conserved region 1 (C1) . Cysteine-rich zinc binding domain. Some members of this domain family bind phorbol esters and diacylglycerol, some are reported to bind RasGTP. May occur in tandem arrangement. Diacylglycerol (DAG) is a second ...
      pfam06292
      Location:12981400
      DUF1041; Domain of Unknown Function (DUF1041)
      pfam10540
      Location:16451781
      Membr_traf_MHD; Munc13 (mammalian uncoordinated) homology domain
    4. NM_001371188.2NP_001358117.1  protein unc-13 homolog B isoform 5

      Status: REVIEWED

      Source sequence(s)
      AL160274
      UniProtKB/TrEMBL
      I6L9J0
      Related
      ENST00000637271.1
      Conserved Domains (5) summary
      cd04027
      Location:230356
      C2B_Munc13; C2 domain second repeat in Munc13 (mammalian uncoordinated) proteins
      cd08395
      Location:10691188
      C2C_Munc13; C2 domain third repeat in Munc13 (mammalian uncoordinated) proteins
      cd00029
      Location:108157
      C1; Protein kinase C conserved region 1 (C1) . Cysteine-rich zinc binding domain. Some members of this domain family bind phorbol esters and diacylglycerol, some are reported to bind RasGTP. May occur in tandem arrangement. Diacylglycerol (DAG) is a second ...
      pfam06292
      Location:548650
      DUF1041; Domain of Unknown Function (DUF1041)
      pfam10540
      Location:8951031
      Membr_traf_MHD; Munc13 (mammalian uncoordinated) homology domain
    5. NM_001371189.2NP_001358118.1  protein unc-13 homolog B isoform 6

      Status: REVIEWED

      Source sequence(s)
      AL160274, AL353795, AL354669
      Consensus CDS
      CCDS94404.1
      UniProtKB/TrEMBL
      A0A1B0GUS7
      Related
      ENSP00000490228.1, ENST00000635942.2
      Conserved Domains (6) summary
      cd04027
      Location:33493475
      C2B_Munc13; C2 domain second repeat in Munc13 (mammalian uncoordinated) proteins
      cd08394
      Location:1127
      C2A_Munc13; C2 domain first repeat in Munc13 (mammalian uncoordinated) proteins
      cd08395
      Location:41884307
      C2C_Munc13; C2 domain third repeat in Munc13 (mammalian uncoordinated) proteins
      cd00029
      Location:32273276
      C1; Protein kinase C conserved region 1 (C1) . Cysteine-rich zinc binding domain. Some members of this domain family bind phorbol esters and diacylglycerol, some are reported to bind RasGTP. May occur in tandem arrangement. Diacylglycerol (DAG) is a second ...
      pfam06292
      Location:36673769
      DUF1041; Domain of Unknown Function (DUF1041)
      pfam10540
      Location:40144150
      Membr_traf_MHD; Munc13 (mammalian uncoordinated) homology domain
    6. NM_001387551.1NP_001374480.1  protein unc-13 homolog B isoform 7

      Status: REVIEWED

      Source sequence(s)
      AL160274, AL353795, AL354669
      UniProtKB/TrEMBL
      B1AM27
      Conserved Domains (6) summary
      cd04027
      Location:612738
      C2B_Munc13; C2 domain second repeat in Munc13 (mammalian uncoordinated) proteins
      cd08394
      Location:1127
      C2A_Munc13; C2 domain first repeat in Munc13 (mammalian uncoordinated) proteins
      cd08395
      Location:14511570
      C2C_Munc13; C2 domain third repeat in Munc13 (mammalian uncoordinated) proteins
      pfam06292
      Location:9301034
      DUF1041; Domain of Unknown Function (DUF1041)
      pfam10540
      Location:12771413
      Membr_traf_MHD; Munc13 (mammalian uncoordinated) homology domain
      cd20859
      Location:471552
      C1_Munc13-2-like; protein kinase C conserved region 1 (C1 domain) found in Munc13-2, Munc13-3 and similar proteins
    7. NM_001387553.1NP_001374482.1  protein unc-13 homolog B isoform 8

      Status: REVIEWED

      Source sequence(s)
      AL160274, AL354669
      UniProtKB/TrEMBL
      Q4LE73
      Conserved Domains (6) summary
      cd04027
      Location:551677
      C2B_Munc13; C2 domain second repeat in Munc13 (mammalian uncoordinated) proteins
      cd08395
      Location:13901509
      C2C_Munc13; C2 domain third repeat in Munc13 (mammalian uncoordinated) proteins
      pfam06292
      Location:869973
      DUF1041; Domain of Unknown Function (DUF1041)
      pfam10540
      Location:12161352
      Membr_traf_MHD; Munc13 (mammalian uncoordinated) homology domain
      cd20859
      Location:410491
      C1_Munc13-2-like; protein kinase C conserved region 1 (C1 domain) found in Munc13-2, Munc13-3 and similar proteins
      cl14603
      Location:178
      C2; C2 domain
    8. NM_001387554.1NP_001374483.1  protein unc-13 homolog B isoform 9

      Status: REVIEWED

      Source sequence(s)
      AL160274, AL354669
      UniProtKB/TrEMBL
      Q4LE73
      Conserved Domains (6) summary
      cd04027
      Location:551677
      C2B_Munc13; C2 domain second repeat in Munc13 (mammalian uncoordinated) proteins
      cd08395
      Location:13891508
      C2C_Munc13; C2 domain third repeat in Munc13 (mammalian uncoordinated) proteins
      pfam06292
      Location:869972
      DUF1041; Domain of Unknown Function (DUF1041)
      pfam10540
      Location:12151351
      Membr_traf_MHD; Munc13 (mammalian uncoordinated) homology domain
      cd20859
      Location:410491
      C1_Munc13-2-like; protein kinase C conserved region 1 (C1 domain) found in Munc13-2, Munc13-3 and similar proteins
      cl14603
      Location:178
      C2; C2 domain
    9. NM_001387555.1NP_001374484.1  protein unc-13 homolog B isoform 10

      Status: REVIEWED

      Source sequence(s)
      AL160274
      Conserved Domains (5) summary
      cd04027
      Location:9801106
      C2B_Munc13; C2 domain second repeat in Munc13 (mammalian uncoordinated) proteins
      cd08395
      Location:18371956
      C2C_Munc13; C2 domain third repeat in Munc13 (mammalian uncoordinated) proteins
      pfam06292
      Location:12981401
      DUF1041; Domain of Unknown Function (DUF1041)
      pfam10540
      Location:16441780
      Membr_traf_MHD; Munc13 (mammalian uncoordinated) homology domain
      cd20859
      Location:839920
      C1_Munc13-2-like; protein kinase C conserved region 1 (C1 domain) found in Munc13-2, Munc13-3 and similar proteins
    10. NM_006377.6NP_006368.3  protein unc-13 homolog B isoform 1

      See identical proteins and their annotated locations for NP_006368.3

      Status: REVIEWED

      Source sequence(s)
      AL160274, AL353795, AL354669
      Consensus CDS
      CCDS6579.1
      UniProtKB/Swiss-Prot
      O14795, Q2NKJ5, Q5VYM8
      UniProtKB/TrEMBL
      Q4LE73
      Related
      ENSP00000367756.3, ENST00000378495.7
      Conserved Domains (6) summary
      cd04027
      Location:600726
      C2B_Munc13; C2 domain second repeat in Munc13 (mammalian uncoordinated) proteins
      cd08394
      Location:1127
      C2A_Munc13; C2 domain first repeat in Munc13 (mammalian uncoordinated) proteins
      cd08395
      Location:14391558
      C2C_Munc13; C2 domain third repeat in Munc13 (mammalian uncoordinated) proteins
      cd00029
      Location:478527
      C1; Protein kinase C conserved region 1 (C1) . Cysteine-rich zinc binding domain. Some members of this domain family bind phorbol esters and diacylglycerol, some are reported to bind RasGTP. May occur in tandem arrangement. Diacylglycerol (DAG) is a second ...
      pfam06292
      Location:9181022
      DUF1041; Domain of Unknown Function (DUF1041)
      pfam10540
      Location:12651401
      Membr_traf_MHD; Munc13 (mammalian uncoordinated) homology domain

    RNA

    1. NR_170667.1 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AL160274, AL353795, AL354669

    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_000009.12 Reference GRCh38.p14 Primary Assembly

      Range
      35162009..35405335
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047422602.1XP_047278558.1  protein unc-13 homolog B isoform X3

    2. XM_047422603.1XP_047278559.1  protein unc-13 homolog B isoform X4

    3. XM_047422604.1XP_047278560.1  protein unc-13 homolog B isoform X5

    4. XM_011517686.3XP_011515988.1  protein unc-13 homolog B isoform X6

      UniProtKB/TrEMBL
      I6L9J0
      Related
      ENSP00000484432.1, ENST00000617908.4
      Conserved Domains (5) summary
      cd04027
      Location:230356
      C2B_Munc13; C2 domain second repeat in Munc13 (mammalian uncoordinated) proteins
      cd08395
      Location:10881207
      C2C_Munc13; C2 domain third repeat in Munc13 (mammalian uncoordinated) proteins
      cd00029
      Location:108157
      C1; Protein kinase C conserved region 1 (C1) . Cysteine-rich zinc binding domain. Some members of this domain family bind phorbol esters and diacylglycerol, some are reported to bind RasGTP. May occur in tandem arrangement. Diacylglycerol (DAG) is a second ...
      pfam06292
      Location:548652
      DUF1041; Domain of Unknown Function (DUF1041)
      pfam10540
      Location:8951031
      Membr_traf_MHD; Munc13 (mammalian uncoordinated) homology domain
    5. XM_047422605.1XP_047278561.1  protein unc-13 homolog B isoform X7

    6. XM_047422600.1XP_047278556.1  protein unc-13 homolog B isoform X1

    7. XM_047422601.1XP_047278557.1  protein unc-13 homolog B isoform X2

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060933.1 Alternate T2T-CHM13v2.0

      Range
      35181209..35424479
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054361711.1XP_054217686.1  protein unc-13 homolog B isoform X3

    2. XM_054361712.1XP_054217687.1  protein unc-13 homolog B isoform X4

    3. XM_054361713.1XP_054217688.1  protein unc-13 homolog B isoform X5

    4. XM_054361714.1XP_054217689.1  protein unc-13 homolog B isoform X6

    5. XM_054361715.1XP_054217690.1  protein unc-13 homolog B isoform X7

    6. XM_054361709.1XP_054217684.1  protein unc-13 homolog B isoform X1

    7. XM_054361710.1XP_054217685.1  protein unc-13 homolog B isoform X2