Format

Send to:

Choose Destination

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

Gene ID: 201294, updated on 23-Aug-2020

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

Genomic context

See UNC13D in Genome Data Viewer
Location:
17q25.1
Exon count:
32
Annotation release Status Assembly Chr Location
109.20200815 current GRCh38.p13 (GCF_000001405.39) 17 NC_000017.11 (75827225..75844404, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (73823306..73840798, 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
Rab GTPase binding IDA
Inferred from Direct Assay
more info
PubMed 
Rab GTPase binding IPI
Inferred from Physical Interaction
more info
PubMed 
metal ion binding IEA
Inferred from Electronic Annotation
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
defense response to virus IEA
Inferred from Electronic Annotation
more info
 
germinal center formation IEA
Inferred from Electronic Annotation
more info
 
granuloma formation IEA
Inferred from Electronic Annotation
more info
 
natural killer cell degranulation IEA
Inferred from Electronic Annotation
more info
 
neutrophil degranulation TAS
Traceable Author Statement
more info
 
phagocytosis IEA
Inferred from Electronic Annotation
more info
 
positive regulation of exocytosis IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of regulated secretory pathway IGI
Inferred from Genetic Interaction
more info
PubMed 
positive regulation of substrate adhesion-dependent cell spreading IEA
Inferred from Electronic Annotation
more info
 
regulation of mast cell degranulation IMP
Inferred from Mutant Phenotype
more info
PubMed 
Component Evidence Code Pubs
Weibel-Palade body IDA
Inferred from Direct Assay
more info
PubMed 
azurophil granule lumen TAS
Traceable Author Statement
more info
 
cytosol IDA
Inferred from Direct Assay
more info
 
exocytic vesicle IDA
Inferred from Direct Assay
more info
PubMed 
extracellular region TAS
Traceable Author Statement
more info
 
intracellular membrane-bounded organelle IDA
Inferred from Direct Assay
more info
 
late endosome IEA
Inferred from Electronic Annotation
more info
 
lysosome IDA
Inferred from Direct Assay
more info
PubMed 
membrane IEA
Inferred from Electronic Annotation
more info
 
recycling endosome IEA
Inferred from Electronic Annotation
more info
 

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_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, ENST00000207549.8
    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 109.20200815

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