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9.A.19.1.2
Lipid intermediate transporter, Arv1 or pSLC.ARV1, of 271 aas and 4 - 6 TMSs. It plays a role as a mediator of ER cholesterol and bile acid homeostasis (Tinkelenberg et al. 2000, Swain et al. 2002) and participates in sterol transport out of the ER and distribution into plasma membranes (Tong et al. 2010). Defects in the arv1 gene give rise to developmental delay, intellectual disability, seizures, walking and speech impairments, as well as with a dilated cardiomyopathy (DCM) (Karabinos et al. 2022).

Accession Number:Q9H2C2
Protein Name:Protein ARV1
Length:271
Molecular Weight:31052.00
Species:Homo sapiens (Human) [9606]
Number of TMSs:4
Location1 / Topology2 / Orientation3: Membrane1 / Multi-pass membrane protein2
Substrate lipid, cholesterol, sterol, bile acid

Cross database links:

Entrez Gene ID: 64801   
Pfam: PF04161   
KEGG: hsa:64801   

Gene Ontology

GO:0016021 C:integral to membrane
GO:0006665 P:sphingolipid metabolic process

References (6)

[1] “Mutations in yeast ARV1 alter intracellular sterol distribution and are complemented by human ARV1.”  Tinkelenberg A.H.et.al.   11063737
[2] “Complete sequencing and characterization of 21,243 full-length human cDNAs.”  Ota T.et.al.   14702039
[3] “The DNA sequence and biological annotation of human chromosome 1.”  Gregory S.G.et.al.   16710414
[4] “The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).”  The MGC Project Teamet.al.   15489334
[5] “The full-ORF clone resource of the German cDNA consortium.”  Bechtel S.et.al.   17974005
[6] “Yeast cells lacking the ARV1 gene harbor defects in sphingolipid metabolism. Complementation by human ARV1.”  Swain E.et.al.   12145310

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Predict TMSs (Predict number of transmembrane segments)
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FASTA formatted sequence 
1:	MGNGGRSGLQ QGKGNVDGVA ATPTAASASC QYRCIECNQE AKELYRDYNH GVLKITICKS 
61:	CQKPVDKYIE YDPVIILINA ILCKAQAYRH ILFNTQINIH GKLCIFCLLC EAYLRWWQLQ 
121:	DSNQNTAPDD LIRYAKEWDF YRMFAIAALE QTAYFIGIFT FLWVERPMTA KKKPNFILLL 
181:	KALLLSSYGK LLLIPAVIWE HDYTSVCLKL IKVFVLTSNF QAIRVTLNIN RKLSFLAVLS 
241:	GLLLESIMVY FFQSMEWDVG SDYAIFKSQD F