Identity
HGNC
LOCATION
1q32.3
LOCUSID
ALIAS
AXPC1,FLVCR,MFSD7B,PCA,PCARP,SLC49A1
FUSION GENES
Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 28982
MIM: 609144
HGNC: 24682
Ensembl: ENSG00000162769
Variants:
dbSNP: 28982
ClinVar: 28982
TCGA: ENSG00000162769
COSMIC: FLVCR1
RNA/Proteins
| Gene ID | Transcript ID | Uniprot |
|---|---|---|
| ENSG00000162769 | ENST00000366971 | Q9Y5Y0 |
| ENSG00000162769 | ENST00000419102 | H7C3Z2 |
Expression (GTEx)
Pathways
| Pathway | Source | External ID |
|---|---|---|
| Transmembrane transport of small molecules | REACTOME | R-HSA-382551 |
| Iron uptake and transport | REACTOME | R-HSA-917937 |
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 38693265 | 2024 | Structural basis of lipid head group entry to the Kennedy pathway by FLVCR1. | 2 |
| 38778100 | 2024 | Molecular mechanism of choline and ethanolamine transport in humans. | 1 |
| 38693265 | 2024 | Structural basis of lipid head group entry to the Kennedy pathway by FLVCR1. | 2 |
| 38778100 | 2024 | Molecular mechanism of choline and ethanolamine transport in humans. | 1 |
| 38055060 | 2023 | Mfsd7b facilitates choline transport and missense mutations affect choline transport function. | 5 |
| 38055060 | 2023 | Mfsd7b facilitates choline transport and missense mutations affect choline transport function. | 5 |
| 34931442 | 2022 | Extending the phenotype of posterior column ataxia with retinitis pigmentosa caused by variants in FLVCR1. | 3 |
| 34931442 | 2022 | Extending the phenotype of posterior column ataxia with retinitis pigmentosa caused by variants in FLVCR1. | 3 |
| 34433355 | 2021 | Isolated juvenile macular dystrophy without posterior column ataxia associated with FLVCR1 mutation. | 1 |
| 34433355 | 2021 | Isolated juvenile macular dystrophy without posterior column ataxia associated with FLVCR1 mutation. | 1 |
| 30656474 | 2019 | Phenotypic spectrum of autosomal recessive retinitis pigmentosa without posterior column ataxia caused by mutations in the FLVCR1 gene. | 5 |
| 31884612 | 2019 | A Novel FLVCR1 Variant Implicated in Retinitis Pigmentosa. | 4 |
| 30656474 | 2019 | Phenotypic spectrum of autosomal recessive retinitis pigmentosa without posterior column ataxia caused by mutations in the FLVCR1 gene. | 5 |
| 31884612 | 2019 | A Novel FLVCR1 Variant Implicated in Retinitis Pigmentosa. | 4 |
| 29192808 | 2018 | A splice-site variant in FLVCR1 produces retinitis pigmentosa without posterior column ataxia. | 8 |
Citation
Dessen P
FLVCR1 (FLVCR heme transporter 1)
Atlas Genet Cytogenet Oncol Haematol. 2004-02-01
Online version: http://atlasgeneticsoncology.org/gene/40613/flvcr1
