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Q9H2C2

- ARV1_HUMAN

UniProt

Q9H2C2 - ARV1_HUMAN

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Protein

Protein ARV1

Gene

ARV1

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 2 out of 5- Experimental evidence at transcript leveli

Functioni

May act as a mediator of sterol homeostasis.Curated

GO - Biological processi

  1. bile acid metabolic process Source: Ensembl
  2. cholesterol transport Source: Ensembl
  3. regulation of cholesterol metabolic process Source: Ensembl
  4. sphingolipid metabolic process Source: UniProtKB-KW
Complete GO annotation...

Keywords - Biological processi

Lipid metabolism, Sphingolipid metabolism

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
ProteomesiUP000005640: Chromosome 1

Organism-specific databases

HGNCiHGNC:29561. ARV1.

Subcellular locationi

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Transmembranei144 – 16421HelicalSequence AnalysisAdd
BLAST
Transmembranei176 – 19621HelicalSequence AnalysisAdd
BLAST
Transmembranei233 – 25321HelicalSequence AnalysisAdd
BLAST

GO - Cellular componenti

  1. integral component of membrane Source: UniProtKB-KW
Complete GO annotation...

Keywords - Cellular componenti

Membrane

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA134935092.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 271271Protein ARV1PRO_0000228659Add
BLAST

Proteomic databases

MaxQBiQ9H2C2.
PaxDbiQ9H2C2.
PRIDEiQ9H2C2.

PTM databases

PhosphoSiteiQ9H2C2.

Expressioni

Gene expression databases

BgeeiQ9H2C2.
ExpressionAtlasiQ9H2C2. baseline and differential.
GenevestigatoriQ9H2C2.

Organism-specific databases

HPAiHPA035708.
HPA035709.

Interactioni

Protein-protein interaction databases

BioGridi122307. 11 interactions.

Structurei

3D structure databases

ProteinModelPortaliQ9H2C2.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Belongs to the ARV1 family.Curated

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiCOG5254.
GeneTreeiENSGT00390000002675.
HOVERGENiHBG080869.
InParanoidiQ9H2C2.
OrthoDBiEOG7NKKMC.
PhylomeDBiQ9H2C2.
TreeFamiTF105845.

Family and domain databases

InterProiIPR007290. Arv1.
[Graphical view]
PANTHERiPTHR14467. PTHR14467. 1 hit.
PfamiPF04161. Arv1. 1 hit.
[Graphical view]

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 BAB15513.1 differs from that shown. Reason: Contaminating sequence. Potential poly-A sequence.Curated
The sequence CAH73699.1 differs from that shown. Reason: Erroneous gene model prediction. Curated
The sequence CAH73700.1 differs from that shown. Reason: Erroneous initiation. Curated
The sequence CAH73701.1 differs from that shown. Reason: Erroneous gene model prediction. Curated
The sequence CAI15333.1 differs from that shown. Reason: Erroneous gene model prediction. Curated
The sequence CAI15334.1 differs from that shown. Reason: Erroneous initiation. Curated
The sequence CAI15335.1 differs from that shown. Reason: Erroneous gene model prediction. Curated

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti135 – 1362AK → VR in BAB15513. (PubMed:14702039)Curated
Sequence conflicti182 – 1821A → D in AAG44791. 1 PublicationCurated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti101 – 1011G → E.
Corresponds to variant rs35764859 [ dbSNP | Ensembl ].
VAR_033525

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_073623.1. NM_022786.1.
UniGeneiHs.275736.

Genome annotation databases

EnsembliENST00000310256; ENSP00000312458; ENSG00000173409.
GeneIDi64801.
KEGGihsa:64801.
UCSCiuc001huh.3. human.

Polymorphism databases

DMDMi74752603.

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 .
CCDSi CCDS1589.1.
PIRi T34534.
RefSeqi NP_073623.1. NM_022786.1.
UniGenei Hs.275736.

3D structure databases

ProteinModelPortali Q9H2C2.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 122307. 11 interactions.

Protein family/group databases

TCDBi 9.A.19.1.2. the lipid intermediate transporter (arv1) family.

PTM databases

PhosphoSitei Q9H2C2.

Polymorphism databases

DMDMi 74752603.

Proteomic databases

MaxQBi Q9H2C2.
PaxDbi Q9H2C2.
PRIDEi Q9H2C2.

Protocols and materials databases

DNASUi 64801.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000310256 ; ENSP00000312458 ; ENSG00000173409 .
GeneIDi 64801.
KEGGi hsa:64801.
UCSCi uc001huh.3. human.

Organism-specific databases

CTDi 64801.
GeneCardsi GC01P231114.
HGNCi HGNC:29561. ARV1.
HPAi HPA035708.
HPA035709.
MIMi 611647. gene.
neXtProti NX_Q9H2C2.
PharmGKBi PA134935092.
GenAtlasi Search...

Phylogenomic databases

eggNOGi COG5254.
GeneTreei ENSGT00390000002675.
HOVERGENi HBG080869.
InParanoidi Q9H2C2.
OrthoDBi EOG7NKKMC.
PhylomeDBi Q9H2C2.
TreeFami TF105845.

Miscellaneous databases

ChiTaRSi ARV1. human.
GenomeRNAii 64801.
NextBioi 66888.
PROi Q9H2C2.
SOURCEi Search...

Gene expression databases

Bgeei Q9H2C2.
ExpressionAtlasi Q9H2C2. baseline and differential.
Genevestigatori Q9H2C2.

Family and domain databases

InterProi IPR007290. Arv1.
[Graphical view ]
PANTHERi PTHR14467. PTHR14467. 1 hit.
Pfami PF04161. Arv1. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. "Mutations in yeast ARV1 alter intracellular sterol distribution and are complemented by human ARV1."
    Tinkelenberg A.H., Liu Y., Alcantara F., Khan S., Guo Z., Bard M., Sturley S.L.
    J. Biol. Chem. 275:40667-40670(2000) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA], POSSIBLE FUNCTION.
  2. "Cloning and analysis of a G1/S and G2/M phase transition related protein."
    He Y., Tan D., Lai J., Xie Y., Qian W., Yu M., He J.
    Submitted (NOV-2000) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE [MRNA].
  3. Xu X., Yang Y., Gao G., Xiao H., Chen Z., Han Z.
    Submitted (MAY-2000) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
    Tissue: Hypothalamus.
  4. "Complete sequencing and characterization of 21,243 full-length human cDNAs."
    Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.
    , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
    Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
    Tissue: Uterus.
  5. "The DNA sequence and biological annotation of human chromosome 1."
    Gregory S.G., Barlow K.F., McLay K.E., Kaul R., Swarbreck D., Dunham A., Scott C.E., Howe K.L., Woodfine K., Spencer C.C.A., Jones M.C., Gillson C., Searle S., Zhou Y., Kokocinski F., McDonald L., Evans R., Phillips K.
    , Atkinson A., Cooper R., Jones C., Hall R.E., Andrews T.D., Lloyd C., Ainscough R., Almeida J.P., Ambrose K.D., Anderson F., Andrew R.W., Ashwell R.I.S., Aubin K., Babbage A.K., Bagguley C.L., Bailey J., Beasley H., Bethel G., Bird C.P., Bray-Allen S., Brown J.Y., Brown A.J., Buckley D., Burton J., Bye J., Carder C., Chapman J.C., Clark S.Y., Clarke G., Clee C., Cobley V., Collier R.E., Corby N., Coville G.J., Davies J., Deadman R., Dunn M., Earthrowl M., Ellington A.G., Errington H., Frankish A., Frankland J., French L., Garner P., Garnett J., Gay L., Ghori M.R.J., Gibson R., Gilby L.M., Gillett W., Glithero R.J., Grafham D.V., Griffiths C., Griffiths-Jones S., Grocock R., Hammond S., Harrison E.S.I., Hart E., Haugen E., Heath P.D., Holmes S., Holt K., Howden P.J., Hunt A.R., Hunt S.E., Hunter G., Isherwood J., James R., Johnson C., Johnson D., Joy A., Kay M., Kershaw J.K., Kibukawa M., Kimberley A.M., King A., Knights A.J., Lad H., Laird G., Lawlor S., Leongamornlert D.A., Lloyd D.M., Loveland J., Lovell J., Lush M.J., Lyne R., Martin S., Mashreghi-Mohammadi M., Matthews L., Matthews N.S.W., McLaren S., Milne S., Mistry S., Moore M.J.F., Nickerson T., O'Dell C.N., Oliver K., Palmeiri A., Palmer S.A., Parker A., Patel D., Pearce A.V., Peck A.I., Pelan S., Phelps K., Phillimore B.J., Plumb R., Rajan J., Raymond C., Rouse G., Saenphimmachak C., Sehra H.K., Sheridan E., Shownkeen R., Sims S., Skuce C.D., Smith M., Steward C., Subramanian S., Sycamore N., Tracey A., Tromans A., Van Helmond Z., Wall M., Wallis J.M., White S., Whitehead S.L., Wilkinson J.E., Willey D.L., Williams H., Wilming L., Wray P.W., Wu Z., Coulson A., Vaudin M., Sulston J.E., Durbin R.M., Hubbard T., Wooster R., Dunham I., Carter N.P., McVean G., Ross M.T., Harrow J., Olson M.V., Beck S., Rogers J., Bentley D.R.
    Nature 441:315-321(2006) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  6. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  7. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
    The MGC Project Team
    Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
    Tissue: Bone marrow.
  8. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 192-271.
    Tissue: Testis.
  9. "Yeast cells lacking the ARV1 gene harbor defects in sphingolipid metabolism. Complementation by human ARV1."
    Swain E., Stukey J., McDonough V., Germann M., Liu Y., Sturley S.L., Nickels J.T. Jr.
    J. Biol. Chem. 277:36152-36160(2002) [PubMed] [Europe PMC] [Abstract]
    Cited for: POSSIBLE FUNCTION.

Entry informationi

Entry nameiARV1_HUMAN
AccessioniPrimary (citable) accession number: Q9H2C2
Secondary accession number(s): A8KAI4
, Q5VSN7, Q5VSN8, Q5VSN9, Q5VSP0, Q5VSP2, Q9H2H2, Q9H5V6, Q9UFF5
Entry historyi
Integrated into UniProtKB/Swiss-Prot: March 21, 2006
Last sequence update: March 1, 2001
Last modified: October 29, 2014
This is version 102 of the entry and version 1 of the sequence. [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

Miscellaneous

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

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

External Data

Dasty 3