Format

Send to:

Choose Destination
    • Showing Current items.

    UNC13D unc-13 homolog D [ Homo sapiens (human) ]

    Gene ID: 201294, updated on 26-Jul-2021

    Summary

    Official Symbol
    UNC13Dprovided by HGNC
    Official Full Name
    unc-13 homolog Dprovided by HGNC
    Primary source
    HGNC:HGNC:23147
    See related
    Ensembl:ENSG00000092929 MIM:608897
    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
    FHL3; HLH3; HPLH3; Munc13-4
    Summary
    This gene encodes a protein that is a member of the UNC13 family, containing similar domain structure as other family members but lacking an N-terminal phorbol ester-binding C1 domain present in other Munc13 proteins. The protein appears to play a role in vesicle maturation during exocytosis and is involved in regulation of cytolytic granules secretion. Mutations in this gene are associated with familial hemophagocytic lymphohistiocytosis type 3, a genetically heterogeneous, rare autosomal recessive disorder. [provided by RefSeq, Jul 2008]
    Expression
    Broad expression in bone marrow (RPKM 20.9), lung (RPKM 16.7) and 21 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See UNC13D in Genome Data Viewer
    Location:
    17q25.1
    Exon count:
    32
    Annotation release Status Assembly Chr Location
    109.20210514 current GRCh38.p13 (GCF_000001405.39) 17 NC_000017.11 (75827225..75844404, complement)
    105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (73823306..73840485, complement)

    Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene microRNA 4738 Neighboring gene unk zinc finger Neighboring gene Sharpr-MPRA regulatory region 1193 Neighboring gene WW domain binding protein 2 Neighboring gene tripartite motif containing 47

    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?

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables small GTPase binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables small GTPase binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in defense response to virus IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in germinal center formation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in granuloma formation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in natural killer cell degranulation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in phagocytosis IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of exocytosis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of regulated secretory pathway IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    involved_in positive regulation of substrate adhesion-dependent cell spreading IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in regulation of mast cell degranulation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    Component Evidence Code Pubs
    located_in Weibel-Palade body IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in azurophil granule lumen TAS
    Traceable Author Statement
    more info
     
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
     
    located_in exocytic vesicle IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in extracellular region TAS
    Traceable Author Statement
    more info
     
    located_in intracellular membrane-bounded organelle IDA
    Inferred from Direct Assay
    more info
     
    located_in late endosome IEA
    Inferred from Electronic Annotation
    more info
     
    located_in lysosome IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in membrane IEA
    Inferred from Electronic Annotation
    more info
     
    located_in recycling endosome IEA
    Inferred from Electronic Annotation
    more info
     

    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_007266.1 RefSeqGene

      Range
      5001..22493
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_122

    mRNA and Protein(s)

    1. NM_199242.3NP_954712.1  protein unc-13 homolog D

      See identical proteins and their annotated locations for NP_954712.1

      Status: REVIEWED

      Source sequence(s)
      AC087289
      Consensus CDS
      CCDS11730.1
      UniProtKB/Swiss-Prot
      Q70J99
      Related
      ENSP00000207549.3, ENST00000207549.9
      Conserved Domains (3) summary
      cd04009
      Location:9101039
      C2B_Munc13-like; C2 domain second repeat in Munc13 (mammalian uncoordinated)-like proteins
      cd08676
      Location:84263
      C2A_Munc13-like; C2 domain first repeat in Munc13 (mammalian uncoordinated)-like proteins
      pfam10540
      Location:790891
      Membr_traf_MHD; Munc13 (mammalian uncoordinated) homology domain

    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_000017.11 Reference GRCh38.p13 Primary Assembly

      Range
      75827225..75844404 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Support Center