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Protein

Protein ARV1

Gene

ARV1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

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:20663892).3 Publications

Miscellaneous

When transfected in S.cerevisiae, it can complement the absence of yeast of ARV1 protein, suggesting a conserved role in sphingolipid metabolism.2 Publications

GO - Molecular functioni

GO - Biological processi

Keywordsi

Biological processCholesterol metabolism, Lipid metabolism, Lipid transport, Steroid metabolism, Sterol metabolism, Transport

Enzyme and pathway databases

ReactomeiR-HSA-191273 Cholesterol biosynthesis

Protein family/group databases

TCDBi9.A.19.1.2 the lipid intermediate transporter (arv1) family

Names & Taxonomyi

Protein namesi
Recommended name:
Protein ARV1
Short name:
hARV1
Gene namesi
Name:ARV1
ORF Names:HT035
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 1

Organism-specific databases

EuPathDBiHostDB:ENSG00000173409.13
HGNCiHGNC:29561 ARV1
MIMi611647 gene
neXtProtiNX_Q9H2C2

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Transmembranei144 – 164HelicalSequence analysisAdd BLAST21
Transmembranei176 – 196HelicalSequence analysisAdd BLAST21
Transmembranei233 – 253HelicalSequence analysisAdd BLAST21

Keywords - Cellular componenti

Endoplasmic reticulum, Membrane

Pathology & Biotechi

Involvement in diseasei

Epileptic encephalopathy, early infantile, 38 (EIEE38)2 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA form of epileptic encephalopathy, a heterogeneous group of severe childhood onset epilepsies characterized by refractory seizures, neurodevelopmental impairment, and poor prognosis. Development is normal prior to seizure onset, after which cognitive and motor delays become apparent. EIEE38 inheritance is autosomal recessive.
See also OMIM:617020
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_07705059 – 98Missing in EIEE38; loss of protein stability; yeast complementation assays show that the variant does not rescue cell growth. 1 PublicationAdd BLAST40
Natural variantiVAR_077051189G → R in EIEE38; loss of protein stability; yeast complementation assays show that the variant does partially rescue cell growth. 2 PublicationsCorresponds to variant dbSNP:rs730882241EnsemblClinVar.1

Keywords - Diseasei

Disease mutation, Epilepsy

Organism-specific databases

MalaCardsiARV1
MIMi617020 phenotype
OpenTargetsiENSG00000173409
Orphaneti442835 Undetermined early-onset epileptic encephalopathy
PharmGKBiPA134935092

Polymorphism and mutation databases

BioMutaiARV1
DMDMi74752603

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00002286591 – 271Protein ARV1Add BLAST271

Proteomic databases

EPDiQ9H2C2
MaxQBiQ9H2C2
PaxDbiQ9H2C2
PeptideAtlasiQ9H2C2
PRIDEiQ9H2C2
ProteomicsDBi80527

PTM databases

iPTMnetiQ9H2C2
PhosphoSitePlusiQ9H2C2

Expressioni

Tissue specificityi

Ubiquitous. Highly expressed in liver and adipose.1 Publication

Gene expression databases

BgeeiENSG00000173409 Expressed in 200 organ(s), highest expression level in testis
ExpressionAtlasiQ9H2C2 baseline and differential
GenevisibleiQ9H2C2 HS

Organism-specific databases

HPAiHPA035709

Interactioni

Protein-protein interaction databases

BioGridi122307, 36 interactors
IntActiQ9H2C2, 13 interactors
MINTiQ9H2C2
STRINGi9606.ENSP00000312458

Structurei

3D structure databases

ProteinModelPortaliQ9H2C2
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Belongs to the ARV1 family.Curated

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiKOG3134 Eukaryota
COG5254 LUCA
GeneTreeiENSGT00390000002675
HOVERGENiHBG080869
InParanoidiQ9H2C2
KOiK21848
PhylomeDBiQ9H2C2
TreeFamiTF105845

Family and domain databases

InterProiView protein in InterPro
IPR007290 Arv1
PANTHERiPTHR14467 PTHR14467, 1 hit
PfamiView protein in Pfam
PF04161 Arv1, 1 hit

Sequence (1+)i

Sequence statusi: Complete.

This entry has 1 described isoform and 5 potential isoforms that are computationally mapped.Show allAlign All

Q9H2C2-1 [UniParc]FASTAAdd to basket
« Hide
        10         20         30         40         50
MGNGGRSGLQ QGKGNVDGVA ATPTAASASC QYRCIECNQE AKELYRDYNH
60 70 80 90 100
GVLKITICKS CQKPVDKYIE YDPVIILINA ILCKAQAYRH ILFNTQINIH
110 120 130 140 150
GKLCIFCLLC EAYLRWWQLQ DSNQNTAPDD LIRYAKEWDF YRMFAIAALE
160 170 180 190 200
QTAYFIGIFT FLWVERPMTA KKKPNFILLL KALLLSSYGK LLLIPAVIWE
210 220 230 240 250
HDYTSVCLKL IKVFVLTSNF QAIRVTLNIN RKLSFLAVLS GLLLESIMVY
260 270
FFQSMEWDVG SDYAIFKSQD F
Length:271
Mass (Da):31,052
Last modified:March 1, 2001 - v1
Checksum:i35C065EB00FD4671
GO

Computationally mapped potential isoform sequencesi

There are 5 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
H7C0E7H7C0E7_HUMAN
Protein ARV1
ARV1
291Annotation score:
H7C484H7C484_HUMAN
Protein ARV1
ARV1
268Annotation score:
H0YEB4H0YEB4_HUMAN
Protein ARV1
ARV1
122Annotation score:
F6QB42F6QB42_HUMAN
Protein ARV1
ARV1
247Annotation score:
A0A0A0MRI7A0A0A0MRI7_HUMAN
Protein ARV1
ARV1
231Annotation score:

Sequence cautioni

The sequence BAB15513 differs from that shown. Contaminating sequence. Potential poly-A sequence.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti135 – 136AK → VR in BAB15513 (PubMed:14702039).Curated2
Sequence conflicti182A → D in AAG44791 (Ref. 2) Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_07705059 – 98Missing in EIEE38; loss of protein stability; yeast complementation assays show that the variant does not rescue cell growth. 1 PublicationAdd BLAST40
Natural variantiVAR_033525101G → E. Corresponds to variant dbSNP:rs35764859Ensembl.1
Natural variantiVAR_077051189G → R in EIEE38; loss of protein stability; yeast complementation assays show that the variant does partially rescue cell growth. 2 PublicationsCorresponds to variant dbSNP:rs730882241EnsemblClinVar.1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF290878 mRNA Translation: AAG47671.1
AF321442 mRNA Translation: AAK11180.1
AF271780 mRNA Translation: AAG44791.1
AK026629 mRNA Translation: BAB15513.1 Sequence problems.
AK293049 mRNA Translation: BAF85738.1
AL732414 Genomic DNA No translation available.
AL844165 Genomic DNA No translation available.
CH471098 Genomic DNA Translation: EAW69935.1
BC016309 mRNA Translation: AAH16309.1
AL122047 mRNA Translation: CAB59183.3
CCDSiCCDS1589.1
PIRiT34534
RefSeqiNP_001333921.1, NM_001346992.1
NP_073623.1, NM_022786.2
UniGeneiHs.275736

Genome annotation databases

EnsembliENST00000310256; ENSP00000312458; ENSG00000173409
GeneIDi64801
KEGGihsa:64801
UCSCiuc001huh.4 human

Keywords - Coding sequence diversityi

Polymorphism

Similar proteinsi

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF290878 mRNA Translation: AAG47671.1
AF321442 mRNA Translation: AAK11180.1
AF271780 mRNA Translation: AAG44791.1
AK026629 mRNA Translation: BAB15513.1 Sequence problems.
AK293049 mRNA Translation: BAF85738.1
AL732414 Genomic DNA No translation available.
AL844165 Genomic DNA No translation available.
CH471098 Genomic DNA Translation: EAW69935.1
BC016309 mRNA Translation: AAH16309.1
AL122047 mRNA Translation: CAB59183.3
CCDSiCCDS1589.1
PIRiT34534
RefSeqiNP_001333921.1, NM_001346992.1
NP_073623.1, NM_022786.2
UniGeneiHs.275736

3D structure databases

ProteinModelPortaliQ9H2C2
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi122307, 36 interactors
IntActiQ9H2C2, 13 interactors
MINTiQ9H2C2
STRINGi9606.ENSP00000312458

Protein family/group databases

TCDBi9.A.19.1.2 the lipid intermediate transporter (arv1) family

PTM databases

iPTMnetiQ9H2C2
PhosphoSitePlusiQ9H2C2

Polymorphism and mutation databases

BioMutaiARV1
DMDMi74752603

Proteomic databases

EPDiQ9H2C2
MaxQBiQ9H2C2
PaxDbiQ9H2C2
PeptideAtlasiQ9H2C2
PRIDEiQ9H2C2
ProteomicsDBi80527

Protocols and materials databases

DNASUi64801
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000310256; ENSP00000312458; ENSG00000173409
GeneIDi64801
KEGGihsa:64801
UCSCiuc001huh.4 human

Organism-specific databases

CTDi64801
EuPathDBiHostDB:ENSG00000173409.13
GeneCardsiARV1
HGNCiHGNC:29561 ARV1
HPAiHPA035709
MalaCardsiARV1
MIMi611647 gene
617020 phenotype
neXtProtiNX_Q9H2C2
OpenTargetsiENSG00000173409
Orphaneti442835 Undetermined early-onset epileptic encephalopathy
PharmGKBiPA134935092
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG3134 Eukaryota
COG5254 LUCA
GeneTreeiENSGT00390000002675
HOVERGENiHBG080869
InParanoidiQ9H2C2
KOiK21848
PhylomeDBiQ9H2C2
TreeFamiTF105845

Enzyme and pathway databases

ReactomeiR-HSA-191273 Cholesterol biosynthesis

Miscellaneous databases

ChiTaRSiARV1 human
GenomeRNAii64801
PROiPR:Q9H2C2
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000173409 Expressed in 200 organ(s), highest expression level in testis
ExpressionAtlasiQ9H2C2 baseline and differential
GenevisibleiQ9H2C2 HS

Family and domain databases

InterProiView protein in InterPro
IPR007290 Arv1
PANTHERiPTHR14467 PTHR14467, 1 hit
PfamiView protein in Pfam
PF04161 Arv1, 1 hit
ProtoNetiSearch...

Entry informationi

Entry nameiARV1_HUMAN
AccessioniPrimary (citable) accession number: Q9H2C2
Secondary accession number(s): A8KAI4
, Q5VSN7, Q5VSN8, Q5VSN9, Q5VSP0, Q5VSP2, Q9H2H2, Q9H5V6, Q9UFF5
Entry historyiIntegrated into UniProtKB/Swiss-Prot: March 21, 2006
Last sequence update: March 1, 2001
Last modified: November 7, 2018
This is version 135 of the entry and version 1 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. SIMILARITY comments
    Index of protein domains and families
  2. Human chromosome 1
    Human chromosome 1: entries, gene names and cross-references to MIM
  3. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  4. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  5. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
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Main funding by: National Institutes of Health

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