Q9H2C2 (ARV1_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Protein ARV1
Short name=hARV1

Gene names

Name:	ARV1
ORF Names:	HT035

Organism

Homo sapiens (Human) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo

Protein attributes

Sequence length	271 AA.
Sequence status	Complete.
Protein existence	Evidence 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.

Ontologies

Keywords
Biological process	Lipid metabolism Sphingolipid metabolism
Cellular component	Membrane
Coding sequence diversity	Polymorphism
Domain	Transmembrane Transmembrane helix
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	bile acid metabolic process Inferred from electronic annotation. Source: Compara cholesterol transport Inferred from electronic annotation. Source: Compara regulation of cholesterol metabolic process Inferred from electronic annotation. Source: Compara sphingolipid metabolic process Inferred from electronic annotation. Source: UniProtKB-KW
Cellular_component	integral to membrane Inferred from electronic annotation. Source: UniProtKB-KW
Complete GO annotation...

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 271	271	Protein ARV1		PRO_0000228659
Regions
	Transmembrane	144 – 164	21	Helical; Potential
	Transmembrane	176 – 196	21	Helical; Potential
	Transmembrane	233 – 253	21	Helical; Potential
Natural variations
	Natural variant	101	1	G → E. Corresponds to variant rs35764859 [ dbSNP | Ensembl ].		VAR_033525
Experimental info
	Sequence conflict	135 – 136	2	AK → VR in BAB15513. Ref.4
	Sequence conflict	182	1	A → D in AAG44791. Ref.2

Sequences

	Sequence		Length	Mass (Da)
	Q9H2C2 [UniParc]. Last modified March 1, 2001. Version 1. Checksum: 35C065EB00FD4671	FASTA	271	31,052
	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

References

	« Hide 'large scale' referencesShow '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. , 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]	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. , 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.
IPI	IPI00009725.
PIR	T34534.
RefSeq	NP_073623.1. NM_022786.1.
UniGene	Hs.275736.
3D structure databases
ProteinModelPortal	Q9H2C2.
ModBase	Search...
PTM databases
PhosphoSite	Q9H2C2.
Polymorphism databases
DMDM	74752603.
Proteomic databases
PaxDb	Q9H2C2.
PRIDE	Q9H2C2.
Protocols and materials databases
DNASU	64801.
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000310256; ENSP00000312458; ENSG00000173409. ENST00000366658; ENSP00000355618; ENSG00000173409.
GeneID	64801.
KEGG	hsa:64801.
UCSC	uc001huh.3. human.
Organism-specific databases
CTD	64801.
GeneCards	GC01P231114.
HGNC	HGNC:29561. ARV1.
HPA	HPA035708.
MIM	611647. gene.
neXtProt	NX_Q9H2C2.
PharmGKB	PA134935092.
GenAtlas	Search...
Phylogenomic databases
eggNOG	COG5254.
HOVERGEN	HBG080869.
InParanoid	Q9H2C2.
OrthoDB	EOG4QRH4S.
PhylomeDB	Q9H2C2.
Gene expression databases
ArrayExpress	Q9H2C2.
Bgee	Q9H2C2.
Genevestigator	Q9H2C2.
GermOnline	ENSG00000173409. Homo sapiens.
Family and domain databases
InterPro	IPR007290. Arv1. [Graphical view]
PANTHER	PTHR14467. PTHR14467. 1 hit.
Pfam	PF04161. Arv1. 1 hit. [Graphical view]
ProtoNet	Search...
Other
ChiTaRS	ARV1. human.
GenomeRNAi	64801.
NextBio	66888.
SOURCE	Search...

Entry information

Entry name

ARV1_HUMAN

Accession

Primary (citable) accession number: Q9H2C2
Secondary accession number(s): A8KAI4 , 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:	April 3, 2013
This is version 92 of the entry and version 1 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

Disclaimer

Any 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.