Unc13d unc-13 homolog D [Rattus norvegicus (Norway rat)] - Gene

Summary

Official Symbol: Unc13dprovided by RGD
Official Full Name: unc-13 homolog Dprovided by RGD
Primary source: RGD:628593
See related: EnsemblRapid:ENSRNOG00000007439 AllianceGenome:RGD:628593
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Rattus norvegicus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Rattus
Also known as: Unc13h4; Munc13-4
Summary: Predicted to enable small GTPase binding activity. Involved in dense core granule priming. Predicted to be located in cytosol; lysosome; and secretory vesicle. Human ortholog(s) of this gene implicated in familial hemophagocytic lymphohistiocytosis 3. Orthologous to human UNC13D (unc-13 homolog D). [provided by Alliance of Genome Resources, Apr 2022]
Expression: Biased expression in Lung (RPKM 116.7), Thymus (RPKM 97.4) and 6 other tissues See more
Orthologs: human mouse all
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Genomic context

Location:: 10q32.1

Exon count:: 33

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCr8 (GCF_036323735.1)	10	NC_086028.1 (101795652..101810409, complement)
RS_2023_06	previous assembly	mRatBN7.2 (GCF_015227675.2)	10	NC_051345.1 (101296755..101311513, complement)
106	previous assembly	Rnor_6.0 (GCF_000001895.5)	10	NC_005109.4 (104613907..104628664, complement)

Chromosome 10 - NC_086028.1 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Expression

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See details

Project title: A rat RNA-Seq transcriptomic BodyMap across 11 organs and 4 developmental stages A rat RNA-Seq transcriptomic BodyMap across 11 organs and 4 developmental stages
Description: 320 RNA samples isolated from 11 organs (adrenal gland, brain, heart, kidney, liver, lung, muscle, spleen, thymus, and testes or uterus) from both sexes of Fischer 344 rats across four developmental stages (2-, 6-, 21-, and 104-weeks-old)
BioProject: PRJNA238328
Publication: PMID 24510058
Analysis date: Mon Jun 6 17:44:12 2016

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

results suggest that Rab37 is a Munc13-4-binding protein that inhibits mast cell degranulation through its effector protein, by counteracting the vesicle-priming activity of the Rab27-Munc13-4 system
Title: Mast cell degranulation is negatively regulated by the Munc13-4-binding small-guanosine triphosphatase Rab37.
novel Dutch founder mutation leads to severe early onset of FHL3 due to misfolding and degradation of munc13-4(1-899).
Title: A novel Dutch mutation in UNC13D reveals an essential role of the C2B domain in munc13-4 function.
Munc13-4 is a direct partner of rab27a. The complex of the two proteins is an essential regulator of secretory granule fusion with the plasma membrane in hematopoietic cells. Mutations in either of the two genes prevent formation of this complex.
Title: Munc13-4 is an effector of rab27a and controls secretion of lysosomes in hematopoietic cells.

Submit: New GeneRIF Correction

General gene information

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Markers

RH133878 (e-PCR)
- UniSTS:217161

RH133420 (e-PCR)
- UniSTS:216703

Gene Ontology Provided by RGD

Function	Evidence Code	Pubs
enables metal ion binding	IEA Inferred from Electronic Annotation more info
enables small GTPase binding	IEA Inferred from Electronic Annotation more info
enables small GTPase binding	ISO Inferred from Sequence Orthology more info

Process	Evidence Code	Pubs
involved_in defense response to virus	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within defense response to virus	ISO Inferred from Sequence Orthology more info
involved_in dense core granule priming	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within establishment of localization in cell	ISO Inferred from Sequence Orthology more info
involved_in germinal center formation	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within germinal center formation	ISO Inferred from Sequence Orthology more info
involved_in granuloma formation	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within granuloma formation	ISO Inferred from Sequence Orthology more info
involved_in natural killer cell degranulation	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within natural killer cell degranulation	ISO Inferred from Sequence Orthology more info
involved_in phagocytosis	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within phagocytosis	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of exocytosis	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of regulated secretory pathway	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of regulated secretory pathway	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of substrate adhesion-dependent cell spreading	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of substrate adhesion-dependent cell spreading	ISO Inferred from Sequence Orthology more info
involved_in regulation of mast cell degranulation	IEA Inferred from Electronic Annotation more info
involved_in regulation of mast cell degranulation	ISO Inferred from Sequence Orthology more info
involved_in secretion	IBA Inferred from Biological aspect of Ancestor more info
involved_in secretion	IEP Inferred from Expression Pattern more info	PubMed

Component	Evidence Code	Pubs
located_in Weibel-Palade body	IEA Inferred from Electronic Annotation more info
located_in Weibel-Palade body	ISO Inferred from Sequence Orthology more info
located_in cytosol	IEA Inferred from Electronic Annotation more info
located_in cytosol	ISO Inferred from Sequence Orthology more info
located_in endosome	IEA Inferred from Electronic Annotation more info
is_active_in exocytic vesicle	IBA Inferred from Biological aspect of Ancestor more info
located_in exocytic vesicle	IEA Inferred from Electronic Annotation more info
located_in exocytic vesicle	ISO Inferred from Sequence Orthology more info
located_in intracellular membrane-bounded organelle	ISO Inferred from Sequence Orthology more info
located_in late endosome	IEA Inferred from Electronic Annotation more info
located_in lysosome	IEA Inferred from Electronic Annotation more info
located_in lysosome	ISO Inferred from Sequence Orthology more info
located_in membrane	IEA Inferred from Electronic Annotation more info
located_in recycling endosome	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: protein unc-13 homolog D

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.

mRNA and Protein(s)

NM_138844.2 → NP_620199.2 protein unc-13 homolog D

Status: VALIDATED

Source sequence(s)

JAXUCZ010000010

UniProtKB/Swiss-Prot

Q9R189

UniProtKB/TrEMBL

A6HKT5

Related

ENSRNOP00000108239.1, ENSRNOT00000167401.1

Conserved Domains (3) summary

cd04009
Location:908 → 1043

C2B_Munc13-like; C2 domain second repeat in Munc13 (mammalian uncoordinated)-like proteins

cd08676
Location:84 → 263

C2A_Munc13-like; C2 domain first repeat in Munc13 (mammalian uncoordinated)-like proteins

pfam10540
Location:787 → 889

Membr_traf_MHD; Munc13 (mammalian uncoordinated) homology domain

RefSeqs of Annotated Genomes: GCF_036323735.1-RS_2024_02

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCr8

Genomic

NC_086028.1 Reference GRCr8

Range

101795652..101810409 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_039085159.2 → XP_038941087.1 protein unc-13 homolog D isoform X2

UniProtKB/Swiss-Prot

Q9R189

Conserved Domains (3) summary

cd04009
Location:810 → 945

C2B_Munc13-like; C2 domain second repeat in Munc13 (mammalian uncoordinated)-like proteins

cd08676
Location:1 → 165

C2A_Munc13-like; C2 domain first repeat in Munc13 (mammalian uncoordinated)-like proteins

pfam10540
Location:689 → 791

Membr_traf_MHD; Munc13 (mammalian uncoordinated) homology domain
XM_006247702.4 → XP_006247764.1 protein unc-13 homolog D isoform X1

UniProtKB/Swiss-Prot

Q9R189

UniProtKB/TrEMBL

G3V703

Related

ENSRNOP00000010466.3, ENSRNOT00000010466.6

Conserved Domains (3) summary

cd04009
Location:896 → 1031

C2B_Munc13-like; C2 domain second repeat in Munc13 (mammalian uncoordinated)-like proteins

cd08676
Location:72 → 251

C2A_Munc13-like; C2 domain first repeat in Munc13 (mammalian uncoordinated)-like proteins

pfam10540
Location:776 → 877

Membr_traf_MHD; Munc13 (mammalian uncoordinated) homology domain