ARV1 ARV1 homolog, fatty acid homeostasis modulator [Homo sapiens (human)] - Gene

Summary

Official Symbol: ARV1provided by HGNC
Official Full Name: ARV1 homolog, fatty acid homeostasis modulatorprovided by HGNC
Primary source: HGNC:HGNC:29561
See related: Ensembl:ENSG00000173409 MIM:611647; AllianceGenome:HGNC:29561
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: DEE38; EIEE38
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]
Expression: Ubiquitous expression in testis (RPKM 15.4), thyroid (RPKM 10.7) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 1q42.2

Exon count:: 8

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	1	NC_000001.11 (230979094..231000733)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	1	NC_060925.1 (230359572..230381205)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	1	NC_000001.10 (231114840..231136479)

Chromosome 1 - NC_000001.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Epileptic encephalopathy caused by ARV1 deficiency: Refinement of the genotype-phenotype spectrum and functional impact on GPI-anchored proteins.
Title: Epileptic encephalopathy caused by ARV1 deficiency: Refinement of the genotype-phenotype spectrum and functional impact on GPI-anchored proteins.
A defect in GPI synthesis as a suggested mechanism for the role of ARV1 in intellectual disability and seizures.
Title: A defect in GPI synthesis as a suggested mechanism for the role of ARV1 in intellectual disability and seizures.
Homozygous splice-variants in human ARV1 cause GPI-anchor synthesis deficiency.
Title: Homozygous splice-variants in human ARV1 cause GPI-anchor synthesis deficiency.
In contrast to wild type human ARV1, neither variant expressed detectable levels of protein in mammalian cells. Mice with a neuronal deletion of Arv1 recapitulated the human phenotype, exhibiting seizures and a severe survival defect in adulthood. Our data support ARV1 deficiency as a cause of autosomal recessive epileptic encephalopathy
Title: Neuronal deficiency of ARV1 causes an autosomal recessive epileptic encephalopathy.
A novel function for Arv1 in regulation of cell division through promotion of the contractile actomyosin ring, which is independent of its lipid transporter activity.
Title: Arv1 promotes cell division by recruiting IQGAP1 and myosin to the cleavage furrow.
Overexpression of human ARV1 could rescue the phenotypes associated with GPI anchor synthesis defect in the yeast arv1Delta mutant. Arv1 function in GPI biosynthesis may be conserved in all eukaryotes, from yeast to humans.
Title: Complementation analysis reveals a potential role of human ARV1 in GPI anchor biosynthesis.
These results implicate ARV1 as a protective factor in lipotoxic diseases due to modulation of fatty acid metabolism.
Title: A functional, genome-wide evaluation of liposensitive yeast identifies the "ARE2 required for viability" (ARV1) gene product as a major component of eukaryotic fatty acid resistance.
Arv1p has a role in sterol movement from the ER and in the ensuing regulation of hepatic cholesterol and bile acid metabolism
Title: Decreased expression of ARV1 results in cholesterol retention in the endoplasmic reticulum and abnormal bile acid metabolism.
ARV1 plays a role in sphingolipid metabolism and complements yeast ARV1
Title: Yeast cells lacking the ARV1 gene harbor defects in sphingolipid metabolism. Complementation by human ARV1.

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Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Developmental and epileptic encephalopathy, 38 MedGen: C4310762 OMIM: 617020 GeneReviews: Not available	Compare labs

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables sterol transfer activity	TAS Traceable Author Statement more info

Process	Evidence Code	Pubs
involved_in bile acid metabolic process	IEA Inferred from Electronic Annotation more info
involved_in cholesterol biosynthetic process	TAS Traceable Author Statement more info
acts_upstream_of_or_within cholesterol transport	IDA Inferred from Direct Assay more info	PubMed
involved_in intracellular sterol transport	IBA Inferred from Biological aspect of Ancestor more info
involved_in regulation of cholesterol metabolic process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of intracellular cholesterol transport	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of plasma membrane sterol distribution	IBA Inferred from Biological aspect of Ancestor more info
involved_in sphingolipid metabolic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in sterol metabolic process	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
is_active_in Golgi apparatus	IBA Inferred from Biological aspect of Ancestor more info
is_active_in cortical endoplasmic reticulum	IBA Inferred from Biological aspect of Ancestor more info
located_in endoplasmic reticulum membrane	IDA Inferred from Direct Assay more info	PubMed
located_in endoplasmic reticulum membrane	TAS Traceable Author Statement more info

General protein information

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Preferred Names: protein ARV1

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_052022.1 RefSeqGene

Range

5046..26685

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001346992.2 → NP_001333921.1 protein ARV1 isoform 1

Status: REVIEWED

Source sequence(s)

AF290878, AL732414, AL844165

UniProtKB/TrEMBL

H7C0E7

Related

ENSP00000394547.1, ENST00000435927.5
NM_022786.3 → NP_073623.1 protein ARV1 isoform 2

See identical proteins and their annotated locations for NP_073623.1

Status: REVIEWED

Source sequence(s)

AF290878

Consensus CDS

CCDS1589.1

UniProtKB/Swiss-Prot

A8KAI4, Q5VSN7, Q5VSN8, Q5VSN9, Q5VSP0, Q5VSP2, Q9H2C2, Q9H2H2, Q9H5V6, Q9UFF5

UniProtKB/TrEMBL

H7C484

Related

ENSP00000312458.2, ENST00000310256.7

Conserved Domains (1) summary

pfam04161
Location:33 → 222

Arv1; Arv1-like family

RNA

NR_144538.2 RNA Sequence

Status: REVIEWED

Source sequence(s)

AF290878, AL732414, AL844165

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000001.11 Reference GRCh38.p14 Primary Assembly

Range

230979094..231000733

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_024449202.2 → XP_024304970.1 protein ARV1 isoform X1

UniProtKB/TrEMBL

H7C0E7

Conserved Domains (1) summary

pfam04161
Location:33 → 263

Arv1; Arv1-like family