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VPS45 - vacuolar protein sorting 45 homolog Gene

Also Known as H1; SCN5; VSP45; VPS45A; VPS45B; VPS54A; VSP45A; H1VPS45

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 11311

About VPS45

Cytogenetic location: 1q21.2 Genomic coordinates (GRCh38): 1:150,067,382-150,145,329 (from NCBI)

This gene has 47 transcripts (splice variants), 210 orthologues, 7 paralogues and is associated with 2 phenotypes. Ubiquitous expression in brain (RPKM 10.4), adrenal (RPKM 10.2) and 25 other tissues.

Summary

Vesicle mediated protein sorting plays an important role in segregation of intracellular molecules into distinct organelles. Genetic studies in yeast have identified more than 40 vacuolar protein sorting (VPS) genes involved in vesicle transport to vacuoles. This gene is a member of the Sec1 domain family, and shows a high degree of sequence similarity to mouse, rat and yeast Vps45. The exact function of this gene is not known, but its high expression in peripheral blood mononuclear cells suggests a role in trafficking proteins, including inflammatory mediators. Multiple alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jul 2013]

VPS45 Products (3)

mRNA	Protein	Name
NM_001279353.2	NP_001266282.1	vacuolar protein sorting-associated protein 45 isoform 2
NM_001279354.2	NP_001266283.1	vacuolar protein sorting-associated protein 45 isoform 3
NM_007259.5	NP_009190.2	vacuolar protein sorting-associated protein 45 isoform 1

Gene Ontology

Molecular Function

Molecular Function GO Annotation	Evidence	References	Source
enables protein binding	IPI IPI: Inferred from physical interaction	25416956	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

VPS45 Protein Structure

Sec1

0
100
200
300
400
500
570 a.a.

Protein Preferred Names	Protein Names
vacuolar protein sorting-associated protein 45	leucocyte vacuolar protein sorting 45

VPS45 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	VPS45	Q9NRW7	RBSN	Homo sapiens	Q9H1K0	Validated Y2H	25416956
Intra	VPS45	Q9NRW7	STX16	Homo sapiens	O14662	Anti Tag CoIP	33961781

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases	Alias
Neutropenia, Severe Congenital, 5, Autosomal Recessive	SCN5 Neutropenia, Severe Congenital 5, Autosomal Recessive Severe Congenital Neutropenia 5, Autosomal Recessive Neutropenia, Congenital, Severe, Type 5, Autosomal Recessive
Severe Congenital Neutropenia 5	Congenital Neutropenia-Myelofibrosis-Nephromegaly Syndrome Congenital Neutropenia-Bone Marrow Fibrosis-Nephromegaly Syndrome Vps45 Deficiency Scn5
Neutropenia	Leukopenia
Severe Congenital Neutropenia 7	Autosomal Recessive Severe Congenital Neutropenia Due To Csf3r Deficiency Scn7
Cohen Syndrome	Pepper Syndrome COH1 Hypotonia, Obesity, And Prominent Incisors Coh Chs1, Formerly Norio Syndrome Obesity-Hypotonia Syndrome Prominent Incisors-Obesity-Hypotonia Syndrome Chs1 Hypotonia-Obesity-Prominent Incisors Stage 4s Neuroblastoma
Myelofibrosis	Primary Myelofibrosis Agnogenic Myeloid Metaplasia Idiopathic Myelofibrosis Myeloid Metaplasia Myelofibrosis With Myeloid Metaplasia Osteomyelofibrosis Megakaryocytic Myelosclerosis Myelosclerosis Chronic Idiopathic Myelofibrosis Myelofibrosis, Idiopathic Myelofibrosis With Myeloid Metaplasia, Somatic Myelofibrosis, Somatic Aleukemic Myelosis Bone Marrow Fibrosis MYELOF MMM Agnogenic Myeloid Metaplasia With Myelofibrosis Ammm Myelosclerosis With Myeloid Metaplasia Myelofibrosis Nos
Saul-Wilson Syndrome	Microcephalic Osteodysplastic Dysplasia Microcephalic Osteodysplastic Dysplasia, Saul-Wilson Type SWILS Microcephalic Osteodysplastic Dysplasia Saul Wilson Type
Poikiloderma With Neutropenia	Poikiloderma With Neutropenia, Clericuzio Type PN Clericuzio Type Poikiloderma With Neutropenia Poikiloderma With Neutropenia, Clericuzio-Type Clericuzio-Type Poikiloderma With Neutropenia Poikiloderma With Neutropenia Clericuzio Type Immune-Deficient Poikiloderma Clericuzio-Type Poikiloderma Neutropenia Syndrome Poikiloderma With Neutropenia Clericuzio-Type Poikiloderma, With Neutropenia
Severe Congenital Neutropenia 3	Kostmann Syndrome Infantile Agranulocytosis Kostmann Disease Scn3 Severe Congenital Neutropenia Type 3
Severe Congenital Neutropenia	Congenital Neutropenia Neutropenia, Severe Congenital Congenital Agranulocytosis Infantile Genetic Agranulocytosis Kostmann Disease Kostmann'S Agranulocytosis Kostmann'S Syndrome Severe Infantile Genetic Neutropenia
Hermansky-Pudlak Syndrome	Hps Albinism With Hemorrhagic Diathesis And Pigmented Reticuloendothelial Cells Hermanski-Pudlak Syndrome Hermansky Pudlak Syndrome Platelet Storage Pool Deficiency

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 (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS15692	VPS45 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Bos taurus	VPS45	VGNC	VGNC:36824
Macaca mulatta	VPS45	VGNC	VGNC:78964
Mus musculus	VPS45	MGD	MGI:891965
Canis familiaris	VPS45	VGNC	VGNC:48292
Felis catus	VPS45	VGNC	VGNC:66969
Rattus norvegicus	VPS45	RGD	RGD:621267
Others	VPS45	NCBI