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

Gene ID: 64801, updated on 8-Jul-2021

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
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
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Genomic context

See ARV1 in Genome Data Viewer
Location:
1q42.2
Exon count:
8
Annotation release Status Assembly Chr Location
109.20210514 current GRCh38.p13 (GCF_000001405.39) 1 NC_000001.11 (230979082..231000733)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (231114840..231136479)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105373167 Neighboring gene RNA, 7SL, cytoplasmic 837, pseudogene Neighboring gene tetratricopeptide repeat domain 13 Neighboring gene ring finger protein 4 pseudogene Neighboring gene microRNA 1182 Neighboring gene family with sequence similarity 89 member A

Genomic regions, transcripts, and products

Expression

  • Project title: 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables sterol transporter 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
 
involved_in cholesterol transport IEA
Inferred from Electronic Annotation
more info
 
involved_in intracellular sterol transport IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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
PubMed 
involved_in sphingolipid metabolic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in sterol metabolic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
is_active_in Golgi apparatus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
is_active_in cortical endoplasmic reticulum IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in endoplasmic reticulum membrane IDA
Inferred from Direct Assay
more info
PubMed 
located_in endoplasmic reticulum membrane TAS
Traceable Author Statement
more info
 
located_in integral component of membrane IEA
Inferred from Electronic Annotation
more info
 

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

  1. NG_052022.1 RefSeqGene

    Range
    5046..26685
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001346992.2NP_001333921.1  protein ARV1 isoform 1

    Status: REVIEWED

    Source sequence(s)
    AF290878, AL732414, AL844165
    UniProtKB/Swiss-Prot
    Q9H2C2
    Related
    ENSP00000394547.1, ENST00000435927.5
  2. NM_022786.3NP_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
    Q9H2C2
    UniProtKB/TrEMBL
    A0A024R3V6
    Related
    ENSP00000312458.2, ENST00000310256.7
    Conserved Domains (1) summary
    pfam04161
    Location:33222
    Arv1; Arv1-like family

RNA

  1. NR_144538.2 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AF290878, AL732414, AL844165

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p13 Primary Assembly

    Range
    230979082..231000733
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_024449202.1XP_024304970.1  protein ARV1 isoform X1

    Conserved Domains (1) summary
    pfam04161
    Location:33263
    Arv1; Arv1-like family

RNA

  1. XR_002957381.1 RNA Sequence

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