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Protein

Protein ARV1

Gene

ARV1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-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

  • bile acid metabolic process Source: Ensembl
  • cholesterol biosynthetic process Source: Reactome
  • cholesterol transport Source: Ensembl
  • regulation of cholesterol metabolic process Source: UniProtKB
  • regulation of intracellular cholesterol transport Source: UniProtKB

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

HGNCiHGNC:29561. ARV1.

Subcellular locationi

Topology

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

GO - Cellular componenti

  • endoplasmic reticulum membrane Source: UniProtKB
  • integral component of membrane Source: UniProtKB-KW

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:rs730882241Ensembl.1

Keywords - Diseasei

Disease mutation, Epilepsy

Organism-specific databases

DisGeNETi64801.
MIMi617020. phenotype.
OpenTargetsiENSG00000173409.
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.

PTM databases

iPTMnetiQ9H2C2.
PhosphoSitePlusiQ9H2C2.

Expressioni

Tissue specificityi

Ubiquitous. Highly expressed in liver and adipose.1 Publication

Gene expression databases

BgeeiENSG00000173409.
ExpressionAtlasiQ9H2C2. baseline and differential.
GenevisibleiQ9H2C2. HS.

Organism-specific databases

HPAiHPA035709.

Interactioni

Protein-protein interaction databases

BioGridi122307. 26 interactors.
IntActiQ9H2C2. 2 interactors.
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.
PhylomeDBiQ9H2C2.
TreeFamiTF105845.

Family and domain databases

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

Sequencei

Sequence statusi: Complete.

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

Sequence cautioni

The sequence BAB15513 differs from that shown. Contaminating sequence. Potential poly-A sequence.Curated
The sequence CAH73699 differs from that shown. Reason: Erroneous gene model prediction.Curated
The sequence CAH73700 differs from that shown. Reason: Erroneous initiation.Curated
The sequence CAH73701 differs from that shown. Reason: Erroneous gene model prediction.Curated
The sequence CAI15333 differs from that shown. Reason: Erroneous gene model prediction.Curated
The sequence CAI15334 differs from that shown. Reason: Erroneous initiation.Curated
The sequence CAI15335 differs from that shown. Reason: Erroneous gene model prediction.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:rs730882241Ensembl.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, AL844165 Genomic DNA. Translation: CAH73698.1.
AL732414, AL844165 Genomic DNA. Translation: CAH73699.1. Sequence problems.
AL732414, AL844165 Genomic DNA. Translation: CAH73700.1. Different initiation.
AL732414, AL844165 Genomic DNA. Translation: CAH73701.1. Sequence problems.
AL844165, AL732414 Genomic DNA. Translation: CAI15332.1.
AL844165, AL732414 Genomic DNA. Translation: CAI15333.1. Sequence problems.
AL844165, AL732414 Genomic DNA. Translation: CAI15334.1. Different initiation.
AL844165, AL732414 Genomic DNA. Translation: CAI15335.1. Sequence problems.
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

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, AL844165 Genomic DNA. Translation: CAH73698.1.
AL732414, AL844165 Genomic DNA. Translation: CAH73699.1. Sequence problems.
AL732414, AL844165 Genomic DNA. Translation: CAH73700.1. Different initiation.
AL732414, AL844165 Genomic DNA. Translation: CAH73701.1. Sequence problems.
AL844165, AL732414 Genomic DNA. Translation: CAI15332.1.
AL844165, AL732414 Genomic DNA. Translation: CAI15333.1. Sequence problems.
AL844165, AL732414 Genomic DNA. Translation: CAI15334.1. Different initiation.
AL844165, AL732414 Genomic DNA. Translation: CAI15335.1. Sequence problems.
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. 26 interactors.
IntActiQ9H2C2. 2 interactors.
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.

Protocols and materials databases

DNASUi64801.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

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

Organism-specific databases

CTDi64801.
DisGeNETi64801.
GeneCardsiARV1.
HGNCiHGNC:29561. ARV1.
HPAiHPA035709.
MIMi611647. gene.
617020. phenotype.
neXtProtiNX_Q9H2C2.
OpenTargetsiENSG00000173409.
PharmGKBiPA134935092.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG3134. Eukaryota.
COG5254. LUCA.
GeneTreeiENSGT00390000002675.
HOVERGENiHBG080869.
InParanoidiQ9H2C2.
PhylomeDBiQ9H2C2.
TreeFamiTF105845.

Enzyme and pathway databases

ReactomeiR-HSA-191273. Cholesterol biosynthesis.

Miscellaneous databases

ChiTaRSiARV1. human.
GenomeRNAii64801.
PROiPR:Q9H2C2.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000173409.
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: March 15, 2017
This is version 125 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. Human chromosome 1
    Human chromosome 1: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.