Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	64801
Gene name	ARV1 fatty acid homeostasis modulator
Gene symbol	ARV1
Synonyms (NCBI Gene)	DEE38EIEE38
Chromosome	1
Chromosome location	1q42.2
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 enc

Show/Hide all (3)

SNP ID	Visualize variation	Clinical significance	Consequence
rs150619347	G>A	Pathogenic	Splice donor variant
rs730882241	G>A	Likely-pathogenic, pathogenic	Coding sequence variant, missense variant, non coding transcript variant
rs1572343011	->C	Likely-pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant

Show/Hide all (63)

miRTarBase ID	miRNA	Experiments
MIRT801474	hsa-miR-3151	CLIP-seq
MIRT801475	hsa-miR-3185	CLIP-seq
MIRT801476	hsa-miR-3606	CLIP-seq
MIRT801477	hsa-miR-4265	CLIP-seq
MIRT801478	hsa-miR-4296	CLIP-seq
MIRT801479	hsa-miR-4322	CLIP-seq
MIRT801480	hsa-miR-4447	CLIP-seq
MIRT801481	hsa-miR-4472	CLIP-seq
MIRT801482	hsa-miR-4651	CLIP-seq
MIRT801483	hsa-miR-4676-5p	CLIP-seq
MIRT801484	hsa-miR-491-5p	CLIP-seq
MIRT801485	hsa-miR-548a-3p	CLIP-seq
MIRT801486	hsa-miR-548e	CLIP-seq
MIRT801487	hsa-miR-548f	CLIP-seq
MIRT801488	hsa-miR-575	CLIP-seq
MIRT801489	hsa-miR-608	CLIP-seq
MIRT801490	hsa-miR-802	CLIP-seq
MIRT1936581	hsa-miR-3942-3p	CLIP-seq
MIRT2444050	hsa-miR-3064-3p	CLIP-seq
MIRT801475	hsa-miR-3185	CLIP-seq
MIRT801476	hsa-miR-3606	CLIP-seq
MIRT2479686	hsa-miR-1257	CLIP-seq
MIRT2444050	hsa-miR-3064-3p	CLIP-seq
MIRT2479687	hsa-miR-3176	CLIP-seq
MIRT801475	hsa-miR-3185	CLIP-seq
MIRT2479688	hsa-miR-339-3p	CLIP-seq
MIRT801476	hsa-miR-3606	CLIP-seq
MIRT2479689	hsa-miR-3622a-3p	CLIP-seq
MIRT2479690	hsa-miR-3622b-3p	CLIP-seq
MIRT2479691	hsa-miR-3922-3p	CLIP-seq
MIRT1936581	hsa-miR-3942-3p	CLIP-seq
MIRT2479692	hsa-miR-412	CLIP-seq
MIRT2479693	hsa-miR-4307	CLIP-seq
MIRT2479694	hsa-miR-4312	CLIP-seq
MIRT2479695	hsa-miR-4684-3p	CLIP-seq
MIRT2479696	hsa-miR-4795-3p	CLIP-seq
MIRT801485	hsa-miR-548a-3p	CLIP-seq
MIRT801486	hsa-miR-548e	CLIP-seq
MIRT801487	hsa-miR-548f	CLIP-seq
MIRT2479697	hsa-miR-556-5p	CLIP-seq
MIRT2479698	hsa-miR-568	CLIP-seq
MIRT2479699	hsa-miR-576-3p	CLIP-seq
MIRT2479700	hsa-miR-581	CLIP-seq
MIRT2479701	hsa-miR-616	CLIP-seq
MIRT2479702	hsa-miR-619	CLIP-seq
MIRT2479686	hsa-miR-1257	CLIP-seq
MIRT2444050	hsa-miR-3064-3p	CLIP-seq
MIRT2479687	hsa-miR-3176	CLIP-seq
MIRT801475	hsa-miR-3185	CLIP-seq
MIRT2479688	hsa-miR-339-3p	CLIP-seq
MIRT801476	hsa-miR-3606	CLIP-seq
MIRT2479689	hsa-miR-3622a-3p	CLIP-seq
MIRT2479690	hsa-miR-3622b-3p	CLIP-seq
MIRT2479691	hsa-miR-3922-3p	CLIP-seq
MIRT2479692	hsa-miR-412	CLIP-seq
MIRT2479693	hsa-miR-4307	CLIP-seq
MIRT2479694	hsa-miR-4312	CLIP-seq
MIRT2479696	hsa-miR-4795-3p	CLIP-seq
MIRT2479697	hsa-miR-556-5p	CLIP-seq
MIRT2479698	hsa-miR-568	CLIP-seq
MIRT2479699	hsa-miR-576-3p	CLIP-seq
MIRT2479700	hsa-miR-581	CLIP-seq
MIRT2479702	hsa-miR-619	CLIP-seq

Show/Hide all (24)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	28514442, 32296183, 33961781
GO:0005783	Component	Endoplasmic reticulum	IEA
GO:0005789	Component	Endoplasmic reticulum membrane	IDA	20663892
GO:0005789	Component	Endoplasmic reticulum membrane	IEA
GO:0005789	Component	Endoplasmic reticulum membrane	TAS
GO:0005794	Component	Golgi apparatus	IBA
GO:0006629	Process	Lipid metabolic process	IEA
GO:0006665	Process	Sphingolipid metabolic process	IBA
GO:0006695	Process	Cholesterol biosynthetic process	TAS
GO:0006869	Process	Lipid transport	IEA
GO:0008202	Process	Steroid metabolic process	IEA
GO:0008203	Process	Cholesterol metabolic process	IEA
GO:0008206	Process	Bile acid metabolic process	IEA
GO:0016020	Component	Membrane	IEA
GO:0016125	Process	Sterol metabolic process	IBA
GO:0030301	Process	Cholesterol transport	IDA	20663892
GO:0032366	Process	Intracellular sterol transport	IBA
GO:0032366	Process	Intracellular sterol transport	IEA
GO:0032383	Process	Regulation of intracellular cholesterol transport	IMP	20663892
GO:0032541	Component	Cortical endoplasmic reticulum	IBA
GO:0090181	Process	Regulation of cholesterol metabolic process	IEA
GO:0090181	Process	Regulation of cholesterol metabolic process	IMP	20663892
GO:0097036	Process	Regulation of plasma membrane sterol distribution	IBA
GO:0120015	Function	Sterol transfer activity	TAS

MIM	HGNC	e!Ensembl
611647	29561	ENSG00000173409

Q9H2C2

Protein name

Protein ARV1 (hARV1)

Protein function

Plays a role as a mediator in the endoplasmic reticulum (ER) cholesterol and bile acid homeostasis (PubMed:11063737, PubMed:12145310, PubMed:20663892). Participates in sterol transport out of the ER and distribution into plasma membranes (PubMed

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF04161	Arv1	33 → 223	Arv1-like family	Family

Tissue specificity

TISSUE SPECIFICITY: Ubiquitous. Highly expressed in liver and adipose. {ECO:0000269|PubMed:20663892}.

Sequence

MGNGGRSGLQQGKGNVDGVAATPTAASASCQYRCIECNQEAKELYRDYNHGVLKITICKS
CQKPVDKYIEYDPVIILINAILCKAQAYRHILFNTQINIHGKLCIFCLLCEAYLRWWQLQ
DSNQNTAPDDLIRYAKEWDFYRMFAIAALEQTAYFIGIFTFLWVERPMTAKKKPNFILLL
KALLLSSYGKLLLIPAVIWEHDYTSVCLKLIKVFVLTSNFQAIRVTLNINRKLSFLAVLS
GLLLESIMVYFFQSMEWDVGSDYAIFKSQDF

Sequence length

271

Interactions

View interactions

	Reactome
			Cholesterol biosynthesis

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Show/Hide Causal Diseases (6)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
3-methylglutaconic aciduria, type VIIB	Likely pathogenic; Pathogenic	rs544784472	RCV005860178	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Abnormality of the nervous system	Likely pathogenic	rs730882241	RCV001814076	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
ARV1-related disorder	Pathogenic	rs150619347	RCV000234848	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Blindness	Likely pathogenic	rs730882241	RCV000162175	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Developmental and epileptic encephalopathy, 38	Likely pathogenic; Pathogenic	rs1294383261, rs730882241, rs2527624286, rs150619347, rs2527624366, rs544784472, rs769858809	RCV001329920 RCV000235018 RCV002510669 RCV000235015 RCV003444167 RCV001655669 RCV001262173 View all (2 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Neurodegeneration	Likely pathogenic	rs730882241	RCV000162175	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (6)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Cholangiocarcinoma	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL NEUROLOGIC ANOMALIES	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 38	—	CTD, Disgenet, HPO CTD, Disgenet, HPO CTD, Disgenet, HPO	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial pancreatic carcinoma	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Melanoma	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (38)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Ataxia	Ataxia	Pubtator	32165008	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Attention deficit hyperactivity disorder	Attention Deficit Hyperactivity Disorder	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Autistic Disorder	Autism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Blepharoptosis	Ptosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Brain Diseases	Brain disease	Pubtator	27270415, 32165008	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cerebral atrophy	Cerebral Atrophy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Developmental disability	Pubtator	32165008	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Developmental regression	Developmental regression	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Dyskinetic syndrome	Dyskinetic Syndrome	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Encephalopathies	Epileptic encephalopathy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	Pubtator	32165008	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Epileptic encephalopathy	Epileptic encephalopathy	BEFREE	27270415		★★★★★ ★☆☆☆☆ Found in Text Mining only
Epileptic encephalopathy	Epileptic encephalopathy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 38	Epileptic encephalopathy	UNIPROT_DG	25558065, 27270415		★★★★★ ★☆☆☆☆ Found in Text Mining only
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 38	Epileptic encephalopathy	GENOMICS_ENGLAND_DG	26479315		★★★★★ ★☆☆☆☆ Found in Text Mining only
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 38	Epileptic encephalopathy	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 38	Epileptic encephalopathy	CTD_human_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Gastroesophageal reflux disease	Gastroesophageal Reflux Disease	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypodontia	Hypodontia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Intellectual developmental disorder	Pubtator	32165008	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Language Development Disorders	Language development disorders	Pubtator	32165008	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Metabolic Syndrome X	Metabolic Syndrome	BEFREE	29491146		★★★★★ ★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Non-alcoholic Fatty Liver Disease	Non-Alcoholic Fatty Liver Disease	BEFREE	29491146		★★★★★ ★☆☆☆☆ Found in Text Mining only
Non-specific early-onset epileptic encephalopathy	Non-Specifi Epileptic Encephalopathy	Orphanet			★★★★★ ★☆☆☆☆ Found in Text Mining only
Nystagmus	Nystagmus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Optic Atrophy	Optic Atrophy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	29769046	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	19117982, 28928128	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Ptosis	Ptosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Pulmonary Arterial Hypertension	Pulmonary arterial hypertension	Pubtator	39324181	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Seizures	Seizures	Pubtator	27270415	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Status Epilepticus	Status Epilepticus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Vision Disorders	Visual disorder	Pubtator	32165008	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Xeroderma pigmentosum variant type	Xeroderma pigmentosum	Pubtator	32165008	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only

ARV1 (ARV1 fatty acid homeostasis modulator)