ARV1 - ARV1 homolog, fatty acid homeostasis modulator Gene

Homo sapiens

Also known as DEE38; EIEE38

Gene ID: 64801 | Gene type: protein coding

About ARV1

Cytogenetic location: 1q42.2 Genomic coordinates (GRCh38): 1:230,979,094-231,000,733 (from NCBI)

This gene has 7 transcripts (splice variants), 197 orthologues and is associated with 2 phenotypes. Ubiquitous expression in testis (RPKM 15.4), thyroid (RPKM 10.7) and 25 other tissues.

Summary

this gene encodes a transmembrane protein that contains a conserved zinc ribbon motif at the N- terminus. A similar protein in mouse is thought to function in fatty acid homeostasis. Mutations in this gene are associated with early infantile epileptic encephalopathy 38. [provided by RefSeq, Nov 2016]

ARV1 Products(2)

mRNA	Protein	Name
NM_001346992.2	NP_001333921.1	protein ARV1 isoform 1
NM_022786.3	NP_073623.1	protein ARV1 isoform 2

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables protein binding	IPI IPI: Inferred from physical interaction	28514442	GOA

Biological Process GO Annotation	Evidence	Reference	Source
acts upstream of or within cholesterol transport	IDA IDA: Inferred from direct assay	20663892	GOA
involved in regulation of cholesterol metabolic process	IMP IMP: Inferred from mutant phenotype	20663892	GOA
involved in regulation of intracellular cholesterol transport	IMP IMP: Inferred from mutant phenotype	20663892	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
located in endoplasmic reticulum membrane	IDA IDA: Inferred from direct assay	20663892	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

ARV1 Protein Structure

Arv1

0
100
200
271 a.a.

Protein Preferred Names

Protein Names

protein ARV1

Related Diseases

Diseases

Alias

Developmental And Epileptic Encephalopathy 38

DEE38	Epileptic Encephalopathy, Early Infantile, 38
Eiee38	Developmental And Epileptic Encephalopathy, 38
Glycosylphosphatidylinositol Biosynthesis Defect 23	Gpibd23
Early Infantile Epileptic Encephalopathy 38

Encephalopathy

Brain Diseases	Encephalopathies
Toxic Encephalopathy	Toxic Brain Fever
Toxic Brain Inflammation	Toxic Brain Stem Inflammation
Toxic Cerebral Fever	Toxic Cerebrospinal Fever
Toxic Cerebrospinal Inflammation	Encephalopathy Nec
Encephalopathy Nos	Encephalopathy Disease
Encephalopathy Syndrome

Developmental And Epileptic Encephalopathy 26

DEE26	Epileptic Encephalopathy, Early Infantile, 26
Eiee26	Early Infantile Epileptic Encephalopathy 26
Developmental And Epileptic Encephalopathy, 26	Encephalopathy, Epileptic, Early Infantile, Type 26

Non-Specific Early-Onset Epileptic Encephalopathy

Undetermined Early-Onset Epileptic Encephalopathy	Non-Specific Eoee
Undetermined Eoee

Nervous System Disease

Abnormality Of The Nervous System	Nervous System Diseases
Nervous System Disorder

Congenital Nervous System Abnormality

Congenital Neurologic Anomaly

Congenital Nervous System Disorder

Early Infantile Epileptic Encephalopathy

Early Infantile Epileptic Encephalopathy With Burst-Suppression	Early Infantile Epileptic Encephalopathy With Suppression Bursts
Eiee	Early Infantile Epileptic Encephalopathy With Suppression-Bursts
Ohtahara Syndrome	Encephalopathy, Epileptic, Early Infantile

Epilepsy, Idiopathic Generalized 14

EIG14	Epilepsy, Idiopathic Generalized, Susceptibility To, 14
Idiopathic Generalized Epilepsy 14	{Epilepsy, Idiopathic Generalized, Susceptibility To, 14}

Castration-Resistant Prostate Carcinoma

Prostatic Neoplasms, Castration-Resistant

Developmental And Epileptic Encephalopathy

Encephalopathy, Developmental And Epileptic

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-RS01049	ARV1 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

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