EPG5 - ectopic P-granules 5 autophagy tethering factor Gene

Also Known as HEEW1; VICIS; KIAA1632

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 57724

About EPG5

Cytogenetic location: 18q12.3-q21.1 Genomic coordinates (GRCh38): 18:45,800,581-45,967,329 (from NCBI)

This gene has 19 transcripts (splice variants), 205 orthologues, 2 paralogues and is associated with 4 phenotypes. Ubiquitous expression in bone marrow (RPKM 5.1), thyroid (RPKM 4.1) and 25 other tissues.

Summary

This gene encodes a large coiled coil domain-containing protein that functions in Autophagy during starvation conditions. Mutations in this gene cause Vici syndrome. [provided by RefSeq, Aug 2015]

EPG5 Products (3)

mRNA	Protein	Name
NM_001410858.1	NP_001397787.1	ectopic P granules protein 5 homolog isoform 3
NM_001410859.1	NP_001397788.1	ectopic P granules protein 5 homolog isoform 2
NM_020964.3	NP_066015.2	ectopic P granules protein 5 homolog isoform 1

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables protein binding	IPI IPI: Inferred from physical interaction	29130391	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in cellular response to dsDNA	IMP IMP: Inferred from mutant phenotype	29130391	GOA
involved in endosome to lysosome transport	IMP IMP: Inferred from mutant phenotype	29130391	GOA
involved in nucleotide transport	IMP IMP: Inferred from mutant phenotype	29130391	GOA
acts upstream of positive effect toll-like receptor 9 signaling pathway	IMP IMP: Inferred from mutant phenotype	29130391	GOA

Cellular Component GO Annotation	Evidence	References	Source
located in lysosome	IDA IDA: Inferred from direct assay	29130391	GOA
located in perinuclear region of cytoplasm	IDA IDA: Inferred from direct assay	29130391	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

Protein Preferred Names	Protein Names
ectopic P granules protein 5 homolog	ectopic P-granules autophagy protein 5 homolog

Related Diseases

Diseases	Alias
Vici Syndrome	Absent Corpus Callosum Cataract Immunodeficiency VICIS Immunodeficiency With Cleft Lip/Palate, Cataract, Hypopigmentation, And Absent Corpus Callosum Dionisi Vici Sabetta Gambarara Syndrome Immunodeficiency With Cleft Lip/Palate, Cataract, Hypopigmentation And Absent Corpus Callosum Corpus Callosum Agenesis-Cataract-Immunodeficiency Syndrome Dionisi-Vici-Sabetta-Gambarara Syndrome Immunodeficiency With Cleft Lip/Palate Cataract Hypopigmentation And Absent Corpus Callosum
Syndromic Rod-Cone Dystrophy	Syndromic Retinitis Pigmentosa
Spinocerebellar Ataxia, Autosomal Recessive 20	Autosomal Recessive Spinocerebellar Ataxia 20 SCAR20 Intellectual Disability-Coarse Face-Macrocephaly-Cerebellar Hypotrophy Syndrome Autosomal Recessive Spinocerebellar Ataxia Type 20 Intellectual Disability-Coarse Face-Macrocephaly-Cerebellar Hypoplasia Syndrome Spinocerebellar Ataxia, Autosomal Recessive, 20 Ataxia, Spinocerebellar, Autosomal Recessive, Type 20
Neurodegeneration With Brain Iron Accumulation 5	NBIA5 Beta-Propeller Protein-Associated Neurodegeneration Bpan Static Encephalopathy Of Childhood With Neurodegeneration In Adulthood Senda Neurodegeneration With Brain Iron Accumulation Type 5 Neurodegeneration With Brain Iron Accululation 5 Static Encephalopathy Of Childhood With Neurdegeneration In Adulthood Neurodegeneration, With Brain Iron Accululation, Type 5
Myopathy, X-Linked, With Excessive Autophagy	X-Linked Myopathy With Excessive Autophagy Xmea MEAX Vacuolar Myopathy
Hypogonadotropic Hypogonadism 5 With Or Without Anosmia	HH5 Kallmann Syndrome 5 Kal5 Hypogonadotropic Hypogonadism 5 Without Anosmia Hypogonadism, Hypogonadotropic, Type 5 With/Without Anosmia
Combined Oxidative Phosphorylation Deficiency 11	COXPD11 Combined Oxidative Phosphorylation Defect Type 11 Infantile Encephaloneuromyopathy Due To Mitochondrial Translation Defect Encephaloneuromyopathy, Infantile, Due To Mitochondrial Translation Defect Combined Oxidative Phosphorylation Deficiency, Type 11
Hereditary Spastic Paraplegia 49	Autosomal Recessive Spastic Paraplegia Type 49 Autosomal Recessive Spastic Paraplegia 49 Spg49 Paraplegia, Spastic, Type 49, Autosomal Recessive
Amyloidosis, Primary Localized Cutaneous, 3	Amyloidosis Cutis Dyschromica PLCA3 Acd Primary Localized Cutaneous Amyloidosis 3 Amyloidosis Cutis Dyschromia
Fraser Syndrome 1	Fraser Syndrome Cryptophthalmos With Other Malformations Cryptophthalmos Syndrome FRASRS1 Cryptophthalmos-Syndactyly Syndrome Fraser-Francois Syndrome Cyclopism Meyer-Schwickerath'S Syndrome Ulrich-Feichtiger Syndrome Cryptophthalmos Syndactyly Syndrome Fraser'S Syndrome Meyer-Schwickerath Syndrome Ullrich-Feichtiger Syndrome
Polymicrogyria	Pmg
Treacher Collins Syndrome 1	Treacher Collins Syndrome Mandibulofacial Dysostosis Treacher Collins-Franceschetti Syndrome Tcof Tcs Mfd1 Franceschetti-Klein Syndrome TCS1 Franceschetti Syndrome Franceschetti-Zwahlen-Klein Syndrome Zygoauromandibular Dysplasia Treacher-Collins Syndrome Mandibulofacial Dysostosis Without Limb Anomalies Bilateral And Symmetric Oto-Mandibular Dysplasia
Yunis-Varon Syndrome	Cleidocranial Dysplasia With Micrognathia, Absent Thumbs, And Distal Aphalangia Yunis Varon Syndrome YVS Cleidocranial Dysplasia-Micrognathia-Absent Thumbs Syndrome Cleidocranial Dysplasia, Micrognathia, Absent Thumbs, & Distal Aphalangia Yunis-Varón Syndrome
Alcohol-Related Neurodevelopmental Disorder	Static Encephalopathy Arnd Encephalopathy, Static Alcohol Related Neurodevelopmental Disorder
Danon Disease	Pseudoglycogenosis Ii Antopol Disease Glycogen Storage Disease Iib Glycogen Storage Disease Type 2b Glycogen Storage Disease Type Iib Gsd2b Lysosomal Glycogen Storage Disease Without Acid Maltase Deficiency Vacuolar Cardiomyopathy And Myopathy X-Linked Vacuolar Cardiomyopathy And Myopathy, X-Linked Lysosomal Glycogen Storage Disease Without Acid Maltase Deficiency, Formerly Gsd2b, Formerly Gsd Iib, Formerly Glycogen Storage Cardiomyopathy Glycogen Storage Disease Limited To The Heart Pseudoglycogenosis 2 X-Linked Vacuolar Cardiomyopathy And Myopathy Lysosomal Glycogen Storage Disease With Normal Acid Maltase Glycogen Storage Disease Due To Lamp-2 Deficiency Gsd Due To Lamp-2 Deficiency Glycogenosis Due To Lamp-2 Deficiency Lysosomal Glycogen Storage Disease With Normal Acid Maltase Activity DAND Gsd-Iib
Lens Disease	Lens Diseases
Neurodegeneration With Brain Iron Accumulation	Nbia Neurodegeneration With Brain Iron Accumulation Disorders Neurodegeneration, With Brain Iron Accumulation
Myopathy	Muscular Diseases Myopathies
Hereditary Spastic Paraplegia	Familial Spastic Paraplegia Hereditary Spastic Paraparesis Strumpell-Lorrain Disease Familial Spastic Paraparesis Hsp Spg Strümpell-Lorrain Disease Spastic Paraplegia, Hereditary French Settlement Disease Strumpell-Lorrain Syndrome Fsp Spastic Paraplegia, Familial Spastic Paraplegia Hereditary Spastic Paraplegia 3, Autosomal Dominant Spastic Paraparesis Hereditary Spastic Paralysis Familial Spastic Paralysis Hereditary Spastic Ataxia
Congenital Nervous System Abnormality	Congenital Neurologic Anomaly Congenital Nervous System Disorder

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 (3)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS04422	EPG5 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS22161	Epg5 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS28683	Epg5 Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Bos taurus	EPG5	VGNC	VGNC:28531
Felis catus	EPG5	VGNC	VGNC:61900
Macaca mulatta	EPG5	VGNC	VGNC:104221
Rattus norvegicus	EPG5	RGD	RGD:1306286
Canis familiaris	EPG5	VGNC	VGNC:40402
Mus musculus	EPG5	MGD	MGI:1918673
Others	EPG5	NCBI