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Q9H2C2 (ARV1_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified February 19, 2014. Version 98. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Protein ARV1

Short name=hARV1
Gene names
Name:ARV1
ORF Names:HT035
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length271 AA.
Sequence statusComplete.
Protein existenceEvidence at transcript level

General annotation (Comments)

Function

May act as a mediator of sterol homeostasis Potential. Ref.1 Ref.9

Subcellular location

Membrane; Multi-pass membrane protein Potential.

Miscellaneous

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

Sequence similarities

Belongs to the ARV1 family.

Sequence caution

The sequence BAB15513.1 differs from that shown. Reason: Contaminating sequence. Potential poly-A sequence.

The sequence CAH73699.1 differs from that shown. Reason: Erroneous gene model prediction.

The sequence CAH73700.1 differs from that shown. Reason: Erroneous initiation.

The sequence CAH73701.1 differs from that shown. Reason: Erroneous gene model prediction.

The sequence CAI15333.1 differs from that shown. Reason: Erroneous gene model prediction.

The sequence CAI15334.1 differs from that shown. Reason: Erroneous initiation.

The sequence CAI15335.1 differs from that shown. Reason: Erroneous gene model prediction.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 271271Protein ARV1
PRO_0000228659

Regions

Transmembrane144 – 16421Helical; Potential
Transmembrane176 – 19621Helical; Potential
Transmembrane233 – 25321Helical; Potential

Natural variations

Natural variant1011G → E.
Corresponds to variant rs35764859 [ dbSNP | Ensembl ].
VAR_033525

Experimental info

Sequence conflict135 – 1362AK → VR in BAB15513. Ref.4
Sequence conflict1821A → D in AAG44791. Ref.2

Sequences

Sequence LengthMass (Da)Tools
Q9H2C2 [UniParc].

Last modified March 1, 2001. Version 1.
Checksum: 35C065EB00FD4671

FASTA27131,052
        10         20         30         40         50         60 
MGNGGRSGLQ QGKGNVDGVA ATPTAASASC QYRCIECNQE AKELYRDYNH GVLKITICKS 

        70         80         90        100        110        120 
CQKPVDKYIE YDPVIILINA ILCKAQAYRH ILFNTQINIH GKLCIFCLLC EAYLRWWQLQ 

       130        140        150        160        170        180 
DSNQNTAPDD LIRYAKEWDF YRMFAIAALE QTAYFIGIFT FLWVERPMTA KKKPNFILLL 

       190        200        210        220        230        240 
KALLLSSYGK LLLIPAVIWE HDYTSVCLKL IKVFVLTSNF QAIRVTLNIN RKLSFLAVLS 

       250        260        270 
GLLLESIMVY FFQSMEWDVG SDYAIFKSQD F 

« Hide

References

« Hide 'large scale' references
[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. expand/collapse author list , 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. expand/collapse author list , 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]Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. expand/collapse author list , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., Venter J.C.
Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases
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]"The full-ORF clone resource of the German cDNA consortium."
Bechtel S., Rosenfelder H., Duda A., Schmidt C.P., Ernst U., Wellenreuther R., Mehrle A., Schuster C., Bahr A., Bloecker H., Heubner D., Hoerlein A., Michel G., Wedler H., Koehrer K., Ottenwaelder B., Poustka A., Wiemann S., Schupp I.
BMC Genomics 8:399-399(2007) [PubMed] [Europe PMC] [Abstract]
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.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
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.
PIRT34534.
RefSeqNP_073623.1. NM_022786.1.
UniGeneHs.275736.

3D structure databases

ProteinModelPortalQ9H2C2.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid122307. 2 interactions.

Protein family/group databases

TCDB9.A.19.1.2. the lipid intermediate transporter (arv1) family.

PTM databases

PhosphoSiteQ9H2C2.

Polymorphism databases

DMDM74752603.

Proteomic databases

PaxDbQ9H2C2.
PRIDEQ9H2C2.

Protocols and materials databases

DNASU64801.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000310256; ENSP00000312458; ENSG00000173409.
GeneID64801.
KEGGhsa:64801.
UCSCuc001huh.3. human.

Organism-specific databases

CTD64801.
GeneCardsGC01P231114.
HGNCHGNC:29561. ARV1.
HPAHPA035708.
HPA035709.
MIM611647. gene.
neXtProtNX_Q9H2C2.
PharmGKBPA134935092.
GenAtlasSearch...

Phylogenomic databases

eggNOGCOG5254.
HOVERGENHBG080869.
InParanoidQ9H2C2.
OrthoDBEOG7NKKMC.
PhylomeDBQ9H2C2.
TreeFamTF105845.

Gene expression databases

ArrayExpressQ9H2C2.
BgeeQ9H2C2.
GenevestigatorQ9H2C2.

Family and domain databases

InterProIPR007290. Arv1.
[Graphical view]
PANTHERPTHR14467. PTHR14467. 1 hit.
PfamPF04161. Arv1. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

ChiTaRSARV1. human.
GenomeRNAi64801.
NextBio66888.
PROQ9H2C2.
SOURCESearch...

Entry information

Entry nameARV1_HUMAN
AccessionPrimary (citable) accession number: Q9H2C2
Secondary accession number(s): A8KAI4 expand/collapse secondary AC list , Q5VSN7, Q5VSN8, Q5VSN9, Q5VSP0, Q5VSP2, Q9H2H2, Q9H5V6, Q9UFF5
Entry history
Integrated into UniProtKB/Swiss-Prot: March 21, 2006
Last sequence update: March 1, 2001
Last modified: February 19, 2014
This is version 98 of the entry and version 1 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 1

Human chromosome 1: entries, gene names and cross-references to MIM