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

Gene ID: 10497, updated on 21-Dec-2019

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

Genomic context

See UNC13B in Genome Data Viewer
Location:
9p13.3
Exon count:
44
Annotation release Status Assembly Chr Location
109.20191205 current GRCh38.p13 (GCF_000001405.39) 9 NC_000009.12 (35162009..35405338)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 9 NC_000009.11 (35161976..35405334)

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

NHGRI GWAS Catalog

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

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
GTP-dependent protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Rab GTPase binding NAS
Non-traceable Author Statement
more info
PubMed 
calcium ion binding IEA
Inferred from Electronic Annotation
more info
 
calmodulin binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
calmodulin binding ISS
Inferred from Sequence or Structural Similarity
more info
 
diacylglycerol binding NAS
Non-traceable Author Statement
more info
PubMed 
phospholipid binding IEA
Inferred from Electronic Annotation
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
syntaxin-1 binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Process Evidence Code Pubs
acrosomal vesicle exocytosis IDA
Inferred from Direct Assay
more info
PubMed 
cellular response to glucose stimulus IDA
Inferred from Direct Assay
more info
PubMed 
chemical synaptic transmission ISS
Inferred from Sequence or Structural Similarity
more info
 
dense core granule priming IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
glutamate secretion TAS
Traceable Author Statement
more info
 
innervation IEA
Inferred from Electronic Annotation
more info
 
intracellular signal transduction IEA
Inferred from Electronic Annotation
more info
 
negative regulation of synaptic plasticity IEA
Inferred from Electronic Annotation
more info
 
neuromuscular junction development IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
neurotransmitter secretion TAS
Traceable Author Statement
more info
 
phagosome maturation IEA
Inferred from Electronic Annotation
more info
 
positive regulation of apoptotic process IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of defense response to bacterium IEA
Inferred from Electronic Annotation
more info
 
positive regulation of inhibitory postsynaptic potential ISS
Inferred from Sequence or Structural Similarity
more info
 
positive regulation of protein secretion IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of synaptic vesicle priming ISS
Inferred from Sequence or Structural Similarity
more info
 
presynaptic dense core vesicle exocytosis IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
regulation of short-term neuronal synaptic plasticity IEA
Inferred from Electronic Annotation
more info
 
synaptic transmission, glutamatergic IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
synaptic vesicle docking IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
synaptic vesicle maturation IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
synaptic vesicle priming IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
synaptic vesicle priming ISS
Inferred from Sequence or Structural Similarity
more info
 
Component Evidence Code Pubs
Golgi apparatus IDA
Inferred from Direct Assay
more info
PubMed 
calyx of Held IEA
Inferred from Electronic Annotation
more info
 
cell IEA
Inferred from Electronic Annotation
more info
 
cell junction IEA
Inferred from Electronic Annotation
more info
 
cytosol IDA
Inferred from Direct Assay
more info
PubMed 
cytosol TAS
Traceable Author Statement
more info
 
early phagosome IEA
Inferred from Electronic Annotation
more info
 
glutamatergic synapse IEA
Inferred from Electronic Annotation
more info
 
hippocampal mossy fiber to CA3 synapse IEA
Inferred from Electronic Annotation
more info
 
membrane IDA
Inferred from Direct Assay
more info
PubMed 
neuromuscular junction IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
plasma membrane ISS
Inferred from Sequence or Structural Similarity
more info
 
presynaptic active zone IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
presynaptic active zone TAS
Traceable Author Statement
more info
PubMed 
presynaptic active zone cytoplasmic component IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
presynaptic membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
ribbon synapse IEA
Inferred from Electronic Annotation
more info
 
synaptic vesicle membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
terminal bouton IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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)

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_001330653.2NP_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_001371186.1NP_001358115.1  protein unc-13 homolog B isoform 3

    Status: REVIEWED

    Source sequence(s)
    AL160274, AL353795, AL354669
  3. NM_001371187.1NP_001358116.1  protein unc-13 homolog B isoform 4

    Status: REVIEWED

    Source sequence(s)
    AL160274
    Related
    ENSP00000490683.1, ENST00000636694.1
  4. NM_001371188.1NP_001358117.1  protein unc-13 homolog B isoform 5

    Status: REVIEWED

    Source sequence(s)
    AL160274
  5. NM_001371189.1NP_001358118.1  protein unc-13 homolog B isoform 6

    Status: REVIEWED

    Source sequence(s)
    AL160274, AL353795, AL354669
    Related
    ENSP00000490228.1, ENST00000635942.1
  6. NM_006377.5NP_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

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20191205

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..35405338
    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_011517682.2XP_011515984.1  protein unc-13 homolog B isoform X2

    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
    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:12981401
    DUF1041; Domain of Unknown Function (DUF1041)
    pfam10540
    Location:16441780
    Membr_traf_MHD; Munc13 (mammalian uncoordinated) homology domain
  3. 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
  4. 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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