ARV1 - ARV1 homolog, fatty acid homeostasis modulator Gene

Also Known as DEE38; EIEE38

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 64801

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 References Source
enables protein binding IPI
IPI: Inferred from physical interaction
28514442 GOA
Biological Process GO Annotation Evidence References 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 References 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

Arv1: Arv1-like family (33 - 223)

  • 0
  • 100
  • 200
  • 271 a.a.
Protein Preferred Names Protein Names

protein ARV1

ARV1 Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method References
Intra
ARV1 Q9H2C2 TLCD4 Homo sapiens Q96MV1
Y2H Array
32296183
Intra
ARV1 Q9H2C2 TLCD4 Homo sapiens Q96MV1
Y2H Prey Pooling
32296183
Intra
ARV1 Q9H2C2 AQP6 Homo sapiens Q13520
Y2H Prey Pooling
32296183
Intra
ARV1 Q9H2C2 AQP6 Homo sapiens Q13520
Y2H Array
32296183
Intra
ARV1 Q9H2C2 GPR152 Homo sapiens Q8TDT2
Y2H Prey Pooling
32296183
Intra
ARV1 Q9H2C2 GPR152 Homo sapiens Q8TDT2
Y2H Array
32296183
Intra
ARV1 Q9H2C2 SCN3B Homo sapiens Q9NY72
Validated Y2H
32296183
Intra
ARV1 Q9H2C2 SCN3B Homo sapiens Q9NY72
Y2H Array
32296183
Intra
ARV1 Q9H2C2 SCN3B Homo sapiens Q9NY72
Y2H Prey Pooling
32296183
Intra
ARV1 Q9H2C2 MUC1 Homo sapiens P15941-11
Y2H Array
32296183
Intra
ARV1 Q9H2C2 MUC1 Homo sapiens P15941-11
Y2H Prey Pooling
32296183
Intra
ARV1 Q9H2C2 SLC10A6 Homo sapiens Q3KNW5
Y2H Array
32296183
Intra
ARV1 Q9H2C2 SLC10A6 Homo sapiens Q3KNW5
Y2H Prey Pooling
32296183
Intra
ARV1 Q9H2C2 FAM209A Homo sapiens Q5JX71
Y2H Prey Pooling
32296183
Intra
ARV1 Q9H2C2 FAM209A Homo sapiens Q5JX71
Y2H Array
32296183
Intra
ARV1 Q9H2C2 RNASEK Homo sapiens Q6P5S7
Y2H Array
32296183
Intra
ARV1 Q9H2C2 RNASEK Homo sapiens Q6P5S7
Y2H Prey Pooling
32296183
Intra
ARV1 Q9H2C2 EBP Homo sapiens Q15125
Y2H Prey Pooling
32296183
Intra
ARV1 Q9H2C2 EBP Homo sapiens Q15125
Y2H Array
32296183
Intra
ARV1 Q9H2C2 TMX2 Homo sapiens Q9Y320
Y2H Array
32296183
Intra
ARV1 Q9H2C2 TMX2 Homo sapiens Q9Y320
Y2H Prey Pooling
32296183
Intra
ARV1 Q9H2C2 TMX2 Homo sapiens Q9Y320
Validated Y2H
32296183
Intra
ARV1 Q9H2C2 CREB3L1 Homo sapiens Q96BA8
Y2H Prey Pooling
32296183
Intra
ARV1 Q9H2C2 TMEM14B Homo sapiens Q9NUH8
Validated Y2H
32296183
Intra
ARV1 Q9H2C2 TMEM14B Homo sapiens Q9NUH8
Y2H Prey Pooling
32296183
Intra
ARV1 Q9H2C2 TMEM14B Homo sapiens Q9NUH8
Y2H Array
32296183
Cross: Cross-species interaction Intra: Intraspecies interaction

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

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 Set / Unkown