• Gene id: 201294

Gene Summary

• Gene Symbol: UNC13D   Gene   UCSC   Ensembl
• Aliases: FHL3, HLH3, HPLH3, Munc13-4
• Gene name: unc-13 homolog D
• Alternate names: protein unc-13 homolog D,
• Gene location: 17q25.1 (75844403: 75827224)     Exons: 32     NC_000017.11
• Gene summary(Entrez): 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
• OMIM: 602706

Protein Summary

• Protein general information: Q70J99  
  • Name: Protein unc 13 homolog D (Munc13 4)
  • Length: 1090  
  • Mass: 123282
  • Tissue specificity: Expressed at high levels in spleen, thymus and leukocytes. Also expressed in lung and placenta, and at very low levels in brain, heart, skeletal muscle and kidney. Expressed in cytotoxic T-lymphocytes (CTL) and mast cells. {ECO
• Sequence:

  MATLLSHPQQRPPFLRQAIKIRRRRVRDLQDPPPQMAPEIQPPSHHFSPEQRALLYEDALYTVLHRLGHPEPNHV
  TEASELLRYLQEAFHVEPEEHQQTLQRVRELEKPIFCLKATVKQAKGILGKDVSGFSDPYCLLGIEQGVGVPGGS
  PGSRHRQKAVVRHTIPEEETHRTQVITQTLNPVWDETFILEFEDITNASFHLDMWDLDTVESVRQKLGELTDLHG
  LRRIFKEARKDKGQDDFLGNVVLRLQDLRCREDQWYPLEPRTETYPDRGQCHLQFQLIHKRRATSASRSQPSYTV
  HLHLLQQLVSHEVTQHEAGSTSWDGSLSPQAATVLFLHATQKDLSDFHQSMAQWLAYSRLYQSLEFPSSCLLHPI
  TSIEYQWIQGRLKAEQQEELAASFSSLLTYGLSLIRRFRSVFPLSVSDSPARLQSLLRVLVQMCKMKAFGELCPN
  TAPLPQLVTEALQTGTTEWFHLKQQHHQPMVQGIPEAGKALLGLVQDVIGDLHQCQRTWDKIFHNTLKIHLFSMA
  FRELQWLVAKRVQDHTTVVGDVVSPEMGESLFQLYISLKELCQLRMSSSERDGVLALDNFHRWFQPAIPSWLQKT
  YNEALARVQRAVQMDELVPLGELTKHSTSAVDLSTCFAQISHTARQLDWPDPEEAFMITVKFVEDTCRLALVYCS
  LIKARARELSSGQKDQGQAANMLCVVVNDMEQLRLVIGKLPAQLAWEALEQRVGAVLEQGQLQNTLHAQLQSALA
  GLGHEIRTGVRTLAEQLEVGIAKHIQKLVGVRESVLPEDAILPLMKFLEVELCYMNTNLVQENFSSLLTLLWTHT
  LTVLVEAAASQRSSSLASNRLKIALQNLEICFHAEGCGLPPKALHTATFQALQRDLELQAASSRELIRKYFCSRI
  QQQAETTSEELGAVTVKASYRASEQKLRVELLSASSLLPLDSNGSSDPFVQLTLEPRHEFPELAARETQKHKKDL
  HPLFDETFEFLVPAEPCRKAGACLLLTVLDYDTLGADDLEGEAFLPLREVPGLSGSEEPGEVPQTRLPLTYPAPN
  GDPILQLLEGRKGDREAQVFVRLRRHRAKQASQHALRPAP

• Structural information:
  • Protein Domains: (92..23-)
    (/note="C2-1)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00041-)
    (557..67-)
    (/note="MHD1-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00587-)
    (788..89-)
    (/note="MHD2-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00588-)
    (-)
  • Interpro: IPR000008  IPR035892  IPR014770  IPR014772  IPR019558  
  • Prosite: PS50004 PS51258 PS51259
  • STRING: ENSP00000207549
• Other Databases: GeneCards:  UNC13D  Malacards:  UNC13D

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005764	lysosome	IDA	cellular component
GO:0070382	exocytic vesicle	IDA	cellular component
GO:0045921	positive regulation of exocytosis	IMP	biological process
GO:0043304	regulation of mast cell degranulation	IMP	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005768	endosome	IEA	cellular component
GO:0046872	metal ion binding	IEA	molecular function
GO:0005764	lysosome	IEA	cellular component
GO:0006887	exocytosis	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0043312	neutrophil degranulation	TAS	biological process
GO:0005576	extracellular region	TAS	cellular component
GO:0035578	azurophil granule lumen	TAS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:1900026	positive regulation of substrate adhesion-dependent cell spreading	IEA	biological process
GO:0051607	defense response to virus	IEA	biological process
GO:0006909	phagocytosis	IEA	biological process
GO:0002432	granuloma formation	IEA	biological process
GO:0043320	natural killer cell degranulation	IEA	biological process
GO:0002467	germinal center formation	IEA	biological process
GO:0055037	recycling endosome	IEA	cellular component
GO:0005764	lysosome	IEA	cellular component
GO:0005770	late endosome	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0043231	intracellular membrane-bounded organelle	IDA	cellular component
GO:0005829	cytosol	IDA	cellular component
GO:0033093	Weibel-Palade body	IDA	cellular component
GO:0017137	Rab GTPase binding	IDA	molecular function
GO:1903307	positive regulation of regulated secretory pathway	IGI	biological process
GO:0017137	Rab GTPase binding	IPI	molecular function
GO:0045921	positive regulation of exocytosis	IMP	biological process

Diseases

Associated diseases	References
Familial hemophagocytic lymphohistiocytosis	KEGG:H00109
Familial hemophagocytic lymphohistiocytosis	KEGG:H00109
Familial hemophagocytic lymphohistiocytosis 3	PMID:14622600
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq