UNC13D - unc-13 homolog D Gene

Also Known as FHL3; HLH3; HPLH3; Munc13-4

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 201294

About UNC13D

Cytogenetic location: 17q25.1 Genomic coordinates (GRCh38): 17:75,827,225-75,844,404 (from NCBI)

This gene has 21 transcripts (splice variants), 203 orthologues, 1 paralogue and is associated with 2 phenotypes. Broad expression in bone marrow (RPKM 20.9), lung (RPKM 16.7) and 21 other tissues.

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]

UNC13D Products (1)

mRNA	Protein	Name
NM_199242.3	NP_954712.1	protein unc-13 homolog D

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables protein binding	IPI IPI: Inferred from physical interaction	15548590	GOA
enables small GTPase binding	IDA IDA: Inferred from direct assay	22899725	GOA
enables small GTPase binding	IPI IPI: Inferred from physical interaction	22899725	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in positive regulation of exocytosis	IMP IMP: Inferred from mutant phenotype	15548590	GOA
involved in positive regulation of regulated secretory pathway	IGI IGI: Inferred from genetic interaction	22899725	GOA
involved in regulation of mast cell degranulation	IMP IMP: Inferred from mutant phenotype	15548590	GOA

Cellular Component GO Annotation	Evidence	References	Source
located in Weibel-Palade body	IDA IDA: Inferred from direct assay	22899725	GOA
located in exocytic vesicle	IDA IDA: Inferred from direct assay	17237785	GOA
located in lysosome	IDA IDA: Inferred from direct assay	15548590	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

UNC13D Protein Structure

Membr_traf_MHD

0
200
400
600
800
1000
1090 a.a.

Protein Preferred Names	Protein Names
protein unc-13 homolog D

UNC13D Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	UNC13D	Q70J99	RHOG	Homo sapiens	P84095	Anti Bait CoIP	33513601
Intra	UNC13D	Q70J99	RHOG	Homo sapiens	P84095	Confocal	33513601
Intra	UNC13D	Q70J99	RAB27A	Homo sapiens	P51159	Anti Bait CoIP	25312756
Intra	UNC13D	Q70J99	RAB27A	Homo sapiens	P51159	Gal4 VP16 Complement	16278825

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases	Alias
Hemophagocytic Lymphohistiocytosis, Familial, 3	Familial Hemophagocytic Lymphohistiocytosis 3 FHL3 Hplh3 Hlh3 Lymphohistiocytosis, Hemophagocytic, Familial, Type 3
Hemophagocytic Lymphohistiocytosis, Familial, 1	Familial Hemophagocytic Lymphohistiocytosis Fhl Familial Erythrophagocytic Lymphohistiocytosis Hemophagocytic Syndrome FHL1 Hplh1 Hlh1 Fel Familial Hemophagocytic Lymphohistiocytosis 1 Primary Hemophagocytic Lymphohistiocytosis Familial Hlh Hlh Familial Hemophagocytic Lymphocytosis Hemophagocytic Lymphohistiocytosis, Familial Reticulosis, Familial Histiocytic Hemophagocytic Reticulosis, Familial Erythrophagocytic Lymphohistiocytosis, Familial Familial Histiocytic Reticulosis Familial Hemophagocytic Histiocytosis Familial Hemophagocytic Reticulosis Fhlh Hplh Primary Hemophagocytic Hymphohistiocytosis Genetic Hemophagocytic Lymphohistiocytosis Hemophagocytic Lymphohistiocytosis Familial Hemophagocytic Lymphohistiocytosis Type 1
Hemophagocytic Lymphohistiocytosis	Lymphohistiocytosis, Hemophagocytic Haemophagocytic Syndrome Lymphohistiocytosis Hemophagocytic Hemophagocytic Syndrome Familial Hemophagocytic Lymphocytosis Histiocytoses Of Mononuclear Phagocytes Haemophagocytic Lymphohistiocytosis Nos
Autoinflammatory Syndrome
Griscelli Syndrome, Type 2	Griscelli Syndrome Type 2 GS2 Griscelli Syndrome With Hemophagocytic Syndrome Partial Albinism And Immunodeficiency Syndrome Paid Syndrome Hypopigmentation-Immunodeficiency With Or Without Neurologic Impairment Syndrome Griscelli-Prunieras Syndrome Type 2 Griscelli-Pruniéras Syndrome Type 2 Griscelli Syndrome 2
Hemophagocytic Lymphohistiocytosis, Familial, 4	Familial Hemophagocytic Lymphohistiocytosis 4 FHL4 Hplh4 Hlh4 Lymphohistiocytosis, Hemophagocytic, Familial, Type 4
Griscelli Syndrome	Chediak-Higashi-Like Syndrome Griscelli-Prunieras Syndrome Partial Albinism-Immunodeficiency Syndrome Griscelli Disease Gs Hypopigmentation Immunodeficiency Disease Partial Albinism With Immunodeficiency Immunodeficiency Syndrome With Hypopigmentation Hypopigmentation-Immunodeficiency Disease
Macrophage Activation Syndrome
Familial Hemophagocytic Lymphohistiocytosis 5	Fhl5 Hlh5 Hplh5 Lymphohistiocytosis, Hemophagocytic, Familial, Type 5
Autoimmune Lymphoproliferative Syndrome	ALPS Canale-Smith Syndrome Autoimmune Lymphoproliferative Syndrome, Type Ia Autoimmune Lymphoproliferative Syndrome, Type Ib Autoimmune Lymphoproliferative Syndrome Type 1, Autosomal Dominant Css Autoimmune Lymphoproliferative Syndrome, Type 1b Autoimmune Lymphoproliferative Syndrome, Type 1a Autoimmune Lymphoproliferative Syndrome, Type I, Autosomal Dominant Fas Deficiency Autoimmune Lymphoproliferative Syndrome 1a ALPS1A Autoimmune Lymphoproliferative Syndrome Type Ia Autoimmune Lymphoproliferative Syndrome 1b ALPS1B Autoimmune Lymphoproliferative Syndrome Type Ib
Lymphoproliferative Syndrome, X-Linked, 2	XLP2 Xiap Deficiency X-Linked Lymphoproliferative Syndrome 2 X-Linked Lymphoproliferative Disease Due To Xiap Deficiency Xiap-Related Lymphoproliferative Disease, X-Linked X-Linked Lymphoproliferative Syndrome Type 2 Xiap Deficiency Syndrome
Psoriasis 15	Psors15
Lymphoproliferative Syndrome	Lymphoproliferative Disorder Lymphoproliferative Disorders Lymphoproliferative Disorders, Susceptibility To
Hemophagocytic Lymphohistiocytosis, Familial, 2	Familial Hemophagocytic Lymphohistiocytosis 2 FHL2 Hplh2 Hlh2 Hemophagocytic Lymphohistiocytosis, Familial, 2, Susceptibility To Lymphohistiocytosis, Hemophagocytic, Familial, Type 2
Lymphoproliferative Syndrome 1	LPFS1 Lymphoproliferative Syndrome, Ebv-Associated, Autosomal, 1 Combined Immunodeficiency Due To Itk Deficiency Autosomal Recessive Lymphoproliferative Disease Due To Itk Deficiency Itk Deficiency
Chediak-Higashi Syndrome	CHS Chédiak-Higashi Syndrome Chediak - Steinbrinck Anomaly Chediak Higashi Syndrome Chediak-Steinbrinck-Higashi Syndrome Oculocutaneous Albinism With Leukocyte Defect Chediak-Higashi Disease Chediak-Higashi-Steinbrink Syndrome
Lymphoproliferative Syndrome, X-Linked, 1	Lymphomatoid Papulosis Duncan Disease Purtilo Syndrome X-Linked Lymphoproliferative Syndrome Xlp X-Linked Lymphoproliferative Disease XLP1 Lyp Lymphoproliferative Disease, X-Linked Xlpd X-Linked Lymphoproliferative Disease Due To Sh2d1a Deficiency Ebv Infection, Severe, Susceptibility To Ebvs Immunodeficiency 5 Imd5 X-Linked Lymphoproliferative Syndrome 1 Epstein-Barr Virus Infection, Familial Fatal Ebv Infection, Severe Infectious Mononucleosis, Severe Infectious Mononucleosis, Severe, Susceptibility To Immunodeficiency, X-Linked Progressive Combined Variable Epstein Barr Virus Infection, Familial Fatal X-Linked Progressive Combined Variable Immunodeficiency 5 Epstein-Barr Virus-Induced Lymphoproliferative Disease In Males Familial Fatal Epstein-Barr Infection Severe Susceptibility To Ebv Infection Severe Susceptibility To Infectious Mononucleosis Sap Deficiency Sh2d1a/Slam-Associated Protein Deficiency X-Linked Lymphoproliferative Syndrome Type 1 X-Linked Progressive Combined Variable Immunodeficiency Lymphoproliferative Syndrome, X-Linked Sap X-Linked Lymphoproliferative Disorder
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia	XMEN X-Linked Immunodeficiency With Magnesium Defect, Epstein-Barr Virus Infection And Neoplasia X-Linked Immunodeficiency With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection And Neoplasia Cid Due To Magt1 Deficiency Combined Immunodeficiency Due To Magt1 Deficiency X-Linked Immunodeficiency With Magnesium Defect, Epstein-Barr Virus Infection An X-Linked Magnesium Deficiency With Epstein-Barr Virus Infection And Neoplasia
Schindler Disease, Type I	Schindler Disease Type 1 Alpha-N-Acetylgalactosaminidase Deficiency Type 1 Schindler Disease Type 3 Alpha-N-Acetylgalactosaminidase Deficiency Type 3 Naga Deficiency Type 3 Neuroaxonal Dystrophy, Schindler Type Naga Deficiency Type 1 Alpha-N-Acetylgalactosaminidase Deficiency, Type I Naga Deficiency, Type I Schindler Disease, Type Iii N-Acetyl-Alpha-D-Galactosaminidase Deficiency Type Iii Alpha-N-Acetylgalactosaminidase Deficiency, Type 1 Naga Deficiency, Type 1 Schindler Disease Type I Schindler Disease SCHIND Schindler Disease, Type 3 Schindler Disease, Type 1
Immunodeficiency 20	Autosomal Recessive Primary Immunodeficiency With Defective Spontaneous Natural Killer Cell Cytotoxicity IMD20 Autosomal Recessive Primary Immunodeficiency With Defective Spontaneous Nk Cell Cytotoxicity Cd16 Deficiency Immunodeficiency, Type 20
Ellis-Van Creveld Syndrome	Chondroectodermal Dysplasia Mesoectodermal Dysplasia EVC Ellis Van Creveld Syndrome Mesodermic Dysplasia Ellis-Van Creveld Dysplasia
Familial Cold Autoinflammatory Syndrome 2	FCAS2 Nlrp12-Associated Hereditary Periodic Fever Syndrome Familial Cold Autoinflammatory Syndrome Type 2 Familial Cold-Induced Autoinflammatory Syndrome Type 2 Naps12 Familial Cold Autoinflammatory Syndrome 2, Susceptibility To Autoinflammatory Syndrome, Cold, Familial, Type 2
Piebald Trait	Piebaldism PBT Partial Albinism Albinoidism, Oculocutaneous, Autosomal Dominant
Adult-Onset Still'S Disease	Adult-Onset Still Disease Adult Onset Still'S Disease Adult Still'S Disease Still'S Disease Adult Onset Aosd Wissler-Fanconi Syndrome Stills Disease Adult-Onset Still'S Disease, Adult-Onset Wissler'S Syndrome
Lymphoproliferative Syndrome 2	Cd27 Deficiency LPFS2 Combined Immunodeficiency Due To Cd27 Deficiency Autosomal Recessive Lymphoproliferative Disease Due To Cd27 Deficiency
Selective Immunoglobulin Deficiency Disease
Acute Hemorrhagic Encephalitis
Dysgammaglobulinemia
Hermansky-Pudlak Syndrome	Hps Albinism With Hemorrhagic Diathesis And Pigmented Reticuloendothelial Cells Hermanski-Pudlak Syndrome Hermansky Pudlak Syndrome Platelet Storage Pool Deficiency
Combined Immunodeficiency	Combined T Cell And B Cell Immunodeficiency Congenital Combined Immunodeficiency Syndrome With Combined Immunodeficiency Combined T And B Cell Immunodeficiency Combined Immunity Deficiency Combined Immunodeficiency Syndrome Combined T-Cell And B-Cell Immunodeficiency Lymphopenic Agammaglobulinaemia
Pancytopenia

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (2)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS15467	UNC13D Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS21975	Unc13d Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Mus musculus	UNC13D	MGD	MGI:1917700
Bos taurus	UNC13D	VGNC	VGNC:36666
Felis catus	UNC13D	VGNC	VGNC:66824
Rattus norvegicus	UNC13D	RGD	RGD:628593
Macaca mulatta	UNC13D	VGNC	VGNC:79375
Canis familiaris	UNC13D	VGNC	VGNC:48136
Others	UNC13D	NCBI