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UNC13A unc-13 homolog A [ Homo sapiens (human) ]

Gene ID: 23025, updated on 12-Sep-2021

Summary

Official Symbol
UNC13Aprovided by HGNC
Official Full Name
unc-13 homolog Aprovided by HGNC
Primary source
HGNC:HGNC:23150
See related
Ensembl:ENSG00000130477 MIM:609894
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
Munc13-1
Summary
This gene encodes a member of the UNC13 family. UNC13 proteins bind to phorbol esters and diacylglycerol and play important roles in neurotransmitter release at synapses. Single nucleotide polymorphisms in this gene may be associated with sporadic amyotrophic lateral sclerosis. [provided by RefSeq, Feb 2012]
Expression
Biased expression in brain (RPKM 22.6), adrenal (RPKM 1.5) and 1 other tissue See more
Orthologs
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Genomic context

See UNC13A in Genome Data Viewer
Location:
19p13.11
Exon count:
44
Annotation release Status Assembly Chr Location
109.20210514 current GRCh38.p13 (GCF_000001405.39) 19 NC_000019.10 (17601328..17688354, complement)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (17712145..17799163, complement)

Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene collagen beta(1-O)galactosyltransferase 1 Neighboring gene Sharpr-MPRA regulatory region 8704 Neighboring gene ribosomal protein L21 pseudogene 130 Neighboring gene microtubule associated protein 1S Neighboring gene FCH and mu domain containing endocytic adaptor 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?

Phenotypes

Associated conditions

Description Tests
A genome-wide association meta-analysis identifies a novel locus at 17q11.2 associated with sporadic amyotrophic lateral sclerosis.
GeneReviews: Not available
Age of onset of amyotrophic lateral sclerosis is modulated by a locus on 1p34.1.
GeneReviews: Not available
C9orf72 and UNC13A are shared risk loci for ALS and FTD: A genome-wide meta-analysis.
GeneReviews: Not available
Genome-wide association study identifies 19p13.3 (UNC13A) and 9p21.2 as susceptibility loci for sporadic amyotrophic lateral sclerosis.
GeneReviews: Not available
Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
GeneReviews: Not available

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • KIAA1032

Gene Ontology Provided by GOA

Function Evidence Code Pubs
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 IEA
Inferred from Electronic Annotation
more info
 
enables phospholipid binding IEA
Inferred from Electronic Annotation
more info
 
enables syntaxin-1 binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables syntaxin-1 binding ISS
Inferred from Sequence or Structural Similarity
more info
 
Process Evidence Code Pubs
involved_in cell differentiation IEA
Inferred from Electronic Annotation
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 neurotransmitter secretion ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in positive regulation of dendrite extension IDA
Inferred from Direct Assay
more info
PubMed 
involved_in presynaptic dense core vesicle exocytosis IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in regulation of synaptic transmission, glutamatergic TAS
Traceable Author Statement
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 
Component Evidence Code Pubs
is_active_in neuromuscular junction IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in neuron projection ISS
Inferred from Sequence or Structural Similarity
more info
 
is_active_in plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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 
located_in presynaptic membrane ISS
Inferred from Sequence or Structural Similarity
more info
 
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 

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_052872.1 RefSeqGene

    Range
    5146..92017
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001080421.3NP_001073890.2  protein unc-13 homolog A isoform 1

    See identical proteins and their annotated locations for NP_001073890.2

    Status: REVIEWED

    Source sequence(s)
    AC008761
    Consensus CDS
    CCDS46013.2
    UniProtKB/Swiss-Prot
    Q9UPW8
    Related
    ENSP00000429562.2, ENST00000519716.7
    Conserved Domains (6) summary
    cd04027
    Location:676802
    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:15461665
    C2C_Munc13; C2 domain third repeat in Munc13 (mammalian uncoordinated) proteins
    cd00029
    Location:554603
    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:9941102
    DUF1041; Domain of Unknown Function (DUF1041)
    pfam10540
    Location:13471508
    Membr_traf_MHD; Munc13 (mammalian uncoordinated) homology domain
  2. NM_001387021.1NP_001373950.1  protein unc-13 homolog A isoform 2

    Status: REVIEWED

    Source sequence(s)
    AC008761
    Conserved Domains (6) summary
    cd04027
    Location:674800
    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:15421661
    C2C_Munc13; C2 domain third repeat in Munc13 (mammalian uncoordinated) proteins
    pfam06292
    Location:9921100
    DUF1041; Domain of Unknown Function (DUF1041)
    pfam10540
    Location:13441504
    Membr_traf_MHD; Munc13 (mammalian uncoordinated) homology domain
    cd20859
    Location:533614
    C1_Munc13-2-like; protein kinase C conserved region 1 (C1 domain) found in Munc13-2, Munc13-3 and similar proteins
  3. NM_001387022.1NP_001373951.1  protein unc-13 homolog A isoform 3

    Status: REVIEWED

    Source sequence(s)
    AC008761
    Conserved Domains (6) summary
    cd04027
    Location:674800
    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:15411660
    C2C_Munc13; C2 domain third repeat in Munc13 (mammalian uncoordinated) proteins
    pfam06292
    Location:9921100
    DUF1041; Domain of Unknown Function (DUF1041)
    pfam10540
    Location:13431503
    Membr_traf_MHD; Munc13 (mammalian uncoordinated) homology domain
    cd20859
    Location:533614
    C1_Munc13-2-like; protein kinase C conserved region 1 (C1 domain) found in Munc13-2, Munc13-3 and similar proteins
  4. NM_001387023.1NP_001373952.1  protein unc-13 homolog A isoform 4

    Status: REVIEWED

    Source sequence(s)
    AC008761
    Related
    ENSP00000446831.1, ENST00000550896.1
    Conserved Domains (6) summary
    cd04027
    Location:674800
    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:15191638
    C2C_Munc13; C2 domain third repeat in Munc13 (mammalian uncoordinated) proteins
    pfam06292
    Location:9921100
    DUF1041; Domain of Unknown Function (DUF1041)
    pfam10540
    Location:13441481
    Membr_traf_MHD; Munc13 (mammalian uncoordinated) homology domain
    cd20859
    Location:533614
    C1_Munc13-2-like; protein kinase C conserved region 1 (C1 domain) found in Munc13-2, Munc13-3 and similar proteins

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_000019.10 Reference GRCh38.p13 Primary Assembly

    Range
    17601328..17688354 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011527810.2XP_011526112.1  protein unc-13 homolog A isoform X2

    Conserved Domains (6) summary
    cd04027
    Location:666792
    C2B_Munc13; C2 domain second repeat in Munc13 (mammalian uncoordinated) proteins
    cd08394
    Location:1117
    C2A_Munc13; C2 domain first repeat in Munc13 (mammalian uncoordinated) proteins
    cd08395
    Location:15361655
    C2C_Munc13; C2 domain third repeat in Munc13 (mammalian uncoordinated) proteins
    cd00029
    Location:544593
    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:9841092
    DUF1041; Domain of Unknown Function (DUF1041)
    pfam10540
    Location:13371498
    Membr_traf_MHD; Munc13 (mammalian uncoordinated) homology domain
  2. XM_017026502.1XP_016881991.1  protein unc-13 homolog A isoform X1

  3. XM_011527811.2XP_011526113.1  protein unc-13 homolog A isoform X3

    Related
    ENSP00000447572.1, ENST00000552293.5
    Conserved Domains (6) summary
    cd04027
    Location:676802
    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:15231642
    C2C_Munc13; C2 domain third repeat in Munc13 (mammalian uncoordinated) proteins
    cd00029
    Location:554603
    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:9941102
    DUF1041; Domain of Unknown Function (DUF1041)
    pfam10540
    Location:13471485
    Membr_traf_MHD; Munc13 (mammalian uncoordinated) homology domain
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