VPS45 - vacuolar protein sorting 45 homolog Gene

Homo sapiens

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

Gene ID: 11311 | Gene type: protein coding

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	Reference	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 Cross Intra	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Reference
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

Bioactive Molecules (1)

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

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