TCDB is operated by the Saier Lab Bioinformatics Group
« See all members of the family


2.A.125.1.3
Solute carrier family 52, riboflavin transporter, member 2 (Porcine endogenous retrovirus A receptor 1) (PERV-A receptor 1) (Protein GPR172A) (Riboflavin transporter 2) (hRFVT2) (Yonezawa and Inui 2013).  Riboflavin transporter deficiency (RTD) is a rare neurological condition that encompasses the Brown-Vialetto-Van Laere and Fazio-Londe syndromes since the discovery of pathogenic mutations in the SLC52A2 and SLC52A3 genes that encode human riboflavin transporters RFVT2 and RFVT3. Patients exhibit a deteriorating progression of peripheral and cranial neuropathy that causes muscle weakness, vision loss, deafness, sensory ataxia, and respiratory compromise which when left untreated can be fatal (O'Callaghan et al. 2019).

Accession Number:Q9HAB3
Protein Name:Solute carrier family 52, riboflavin transporter, member 2
Length:445
Molecular Weight:45777.00
Species:Homo sapiens (Human) [9606]
Number of TMSs:11
Location1 / Topology2 / Orientation3: Cell membrane1 / Multi-pass membrane protein2
Substrate riboflavin

Cross database links:

Entrez Gene ID: 79581   
Pfam: PF06237   
KEGG: hsa:79581   

Gene Ontology

GO:0005887 C:integral to plasma membrane
GO:0004872 F:receptor activity
GO:0032217 F:riboflavin transporter activity

References (6)

[1] “Identification of receptors for pig endogenous retrovirus.”  Ericsson T.A.et.al.   12740431
[2] “Identification and comparative functional characterization of a new human riboflavin transporter hRFT3 expressed in the brain.”  Yao Y.et.al.   20463145
[3] “Complete sequencing and characterization of 21,243 full-length human cDNAs.”  Ota T.et.al.   14702039
[4] “DNA sequence and analysis of human chromosome 8.”  Nusbaum C.et.al.   16421571
[5] “The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).”  The MGC Project Teamet.al.   15489334
[6] “Single-round selection yields a unique retroviral envelope utilizing GPR172A as its host receptor.”  Mazari P.M.et.al.   19307586

External Searches:

Analyze:

Predict TMSs (Predict number of transmembrane segments)
Window Size: Angle:  
FASTA formatted sequence
1:	MAAPTPARPV LTHLLVALFG MGSWAAVNGI WVELPVVVKE LPEGWSLPSY VSVLVALGNL 
61:	GLLVVTLWRR LAPGKDEQVP IRVVQVLGMV GTALLASLWH HVAPVAGQLH SVAFLALAFV 
121:	LALACCASNV TFLPFLSHLP PRFLRSFFLG QGLSALLPCV LALVQGVGRL ECPPAPINGT 
181:	PGPPLDFLER FPASTFFWAL TALLVASAAA FQGLLLLLPP PPSVPTGELG SGLQVGAPGA 
241:	EEEVEESSPL QEPPSQAAGT TPGPDPKAYQ LLSARSACLL GLLAATNALT NGVLPAVQSF 
301:	SCLPYGRLAY HLAVVLGSAA NPLACFLAMG VLCRSLAGLG GLSLLGVFCG GYLMALAVLS 
361:	PCPPLVGTSA GVVLVVLSWV LCLGVFSYVK VAASSLLHGG GRPALLAAGV AIQVGSLLGA 
421:	VAMFPPTSIY HVFHSRKDCA DPCDS