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

Gene ID: 10497, updated on 8-Jul-2021

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
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
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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
109.20210514 current GRCh38.p13 (GCF_000001405.39) 9 NC_000009.12 (35162009..35405337)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 9 NC_000009.11 (35162006..35405332)

Chromosome 9 - NC_000009.12Genomic Context describing neighboring genes Neighboring gene GATA motif-containing MPRA enhancer 90 Neighboring gene family with sequence similarity 214 member B Neighboring gene zinc finger protein 492 pseudogene Neighboring gene Sharpr-MPRA regulatory region 3537 Neighboring gene ATPase phospholipid transporting 8B5, pseudogene Neighboring gene zinc finger AN1-type containing 6 pseudogene 1 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
  • 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

Associated conditions

Description Tests
Genome-wide association study identifies candidate genes for Parkinson's disease in an Ashkenazi Jewish population.
GeneReviews: Not available

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

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
PubMed 
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
PubMed 
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
PubMed 
involved_in intracellular signal transduction IEA
Inferred from Electronic Annotation
more info
 
involved_in neuromuscular junction development IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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
PubMed 
involved_in synaptic transmission, glutamatergic IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in synaptic vesicle docking IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in synaptic vesicle maturation IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in synaptic vesicle priming IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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
PubMed 
is_active_in plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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
PubMed 
is_active_in presynaptic membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
is_active_in synaptic vesicle membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
is_active_in terminal bouton IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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..248347
    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/Swiss-Prot
    O14795
    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
    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
    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
    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
    Related
    ENSP00000490228.1, ENST00000635942.1
    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
    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
    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
    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
    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: 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_000009.12 Reference GRCh38.p13 Primary Assembly

    Range
    35162009..35405337
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017014192.1XP_016869681.1  protein unc-13 homolog B isoform X7

    Related
    ENSP00000484432.1, ENST00000617908.4
  2. XM_011517683.2XP_011515985.1  protein unc-13 homolog B isoform X3

    See identical proteins and their annotated locations for XP_011515985.1

    Conserved Domains (5) summary
    cd04027
    Location:9801106
    C2B_Munc13; C2 domain second repeat in Munc13 (mammalian uncoordinated) proteins
    cd08395
    Location:18191938
    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:12981402
    DUF1041; Domain of Unknown Function (DUF1041)
    pfam10540
    Location:16451781
    Membr_traf_MHD; Munc13 (mammalian uncoordinated) homology domain
  3. XM_011517686.2XP_011515988.1  protein unc-13 homolog B isoform X5

    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
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