FLVCR1 (FLVCR heme transporter 1)

2004-02-01  

Identity

HGNC
LOCATION
1q32.3
LOCUSID
ALIAS
AXPC1,FLVCR,MFSD7B,PCA,PCARP,SLC49A1
FUSION GENES

Other Information

Locus ID:

NCBI: 28982
MIM: 609144
HGNC: 24682
Ensembl: ENSG00000162769

Variants:

dbSNP: 28982
ClinVar: 28982
TCGA: ENSG00000162769
COSMIC: FLVCR1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000162769ENST00000366971Q9Y5Y0
ENSG00000162769ENST00000419102H7C3Z2

Expression (GTEx)

0
5
10
15
20

Pathways

PathwaySourceExternal ID
Transmembrane transport of small moleculesREACTOMER-HSA-382551
Iron uptake and transportREACTOMER-HSA-917937

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
222795242012Genetic mapping and exome sequencing identify variants associated with five novel diseases.97
231871272012The mitochondrial heme exporter FLVCR1b mediates erythroid differentiation.65
206104012010Kinetics and specificity of feline leukemia virus subgroup C receptor (FLVCR) export function and its dependence on hemopexin.40
210708972010Mutations in FLVCR1 cause posterior column ataxia and retinitis pigmentosa.24
188151902008Enhanced alternative splicing of the FLVCR1 gene in Diamond Blackfan anemia disrupts FLVCR1 expression and function that are critical for erythropoiesis.22
164395312006Comprehensive mapping of receptor-functioning domains in feline leukemia virus subgroup C receptor FLVCR1.18
257957182015The heme exporter Flvcr1 regulates expansion and differentiation of committed erythroid progenitors by controlling intracellular heme accumulation.18
159968802005Investigation of a putative role for FLVCR, a cytoplasmic heme exporter, in Diamond-Blackfan anemia.13
212676182011Posterior column ataxia with retinitis pigmentosa in a Japanese family with a novel mutation in FLVCR1.13
224835752012Mutations of FLVCR1 in posterior column ataxia and retinitis pigmentosa result in the loss of heme export activity.11

Citation

Dessen P

FLVCR1 (FLVCR heme transporter 1)

Atlas Genet Cytogenet Oncol Haematol. 2004-02-01

Online version: http://atlasgeneticsoncology.org/gene/40613/flvcr1