Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
28982
Gene name Gene Name - the full gene name approved by the HGNC.
FLVCR choline and heme transporter 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
FLVCR1
Synonyms (NCBI Gene) Gene synonyms aliases
AXPC1, FLVCR, MFSD7B, NEDMISH, PCA, PCARP, RETSNS, SLC49A1
Chromosome Chromosome number
1
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
1q32.3
Summary Summary of gene provided in NCBI Entrez Gene.
This gene encodes a member of the major facilitator superfamily of transporter proteins. The encoded protein is a heme transporter that may play a critical role in erythropoiesis by protecting developing erythroid cells from heme toxicity. This gene may p
SNPs SNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs139175550 G>A,T Conflicting-interpretations-of-pathogenicity Non coding transcript variant, missense variant, 3 prime UTR variant, coding sequence variant
rs139242973 CACACACACA>-,CA,CACA,CACACA,CACACACA,CACACACACACA,CACACACACACACA,CACACACACACACACA,CACACACACACACACACA,CACACACACACACACACACA,CACACACACACACACACACACA,CACACACACACACACACACACACA,CACACACACACACACACACACACACA,CACACACACACACACACACACACACACA,CACACACACACACACACACACACACACAC Conflicting-interpretations-of-pathogenicity, uncertain-significance, likely-benign Genic downstream transcript variant, 3 prime UTR variant
rs141575859 C>G,T Conflicting-interpretations-of-pathogenicity Coding sequence variant, genic downstream transcript variant, non coding transcript variant, missense variant
rs538343832 C>G,T Uncertain-significance, pathogenic Coding sequence variant, stop gained, missense variant, genic downstream transcript variant, non coding transcript variant
rs547679833 A>C,G Uncertain-significance, likely-pathogenic Missense variant, coding sequence variant, non coding transcript variant
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT026120 hsa-miR-192-5p Microarray 19074876
MIRT710204 hsa-miR-1183 HITS-CLIP 19536157
MIRT710203 hsa-miR-6819-3p HITS-CLIP 19536157
MIRT710202 hsa-miR-6877-3p HITS-CLIP 19536157
MIRT710201 hsa-miR-4742-5p HITS-CLIP 19536157
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0001568 Process Blood vessel development IEA
GO:0001701 Process In utero embryonic development IEA
GO:0005515 Function Protein binding IPI 20610401
GO:0005739 Component Mitochondrion IBA
GO:0005739 Component Mitochondrion IDA 23187127
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
609144 24682 ENSG00000162769
Protein
UniProt ID Q9Y5Y0
Protein name Choline/ethanolamine transporter FLVCR1 (Feline leukemia virus subgroup C receptor-related protein 1) (Feline leukemia virus subgroup C receptor) (hFLVCR) (Heme transporter FLVCR1)
Protein function Uniporter that mediates the transport of extracellular choline and ethanolamine into cells, thereby playing a key role in phospholipid biosynthesis (PubMed:37100056, PubMed:38693265, PubMed:38778100, PubMed:39306721). Choline and ethanolamine ar
PDB 8QCS , 8QCT , 8R8T , 8UBW , 8UBX , 8UBY , 8UBZ , 8UC0
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF07690 MFS_1 108 478 Major Facilitator Superfamily Family
Tissue specificity TISSUE SPECIFICITY: Found all hematopoietic tissues including peripheral blood lymphocytes. Some expression is found in pancreas and kidney. {ECO:0000269|PubMed:10400745}.
Sequence
Sequence length 555
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  Reactome
    Heme biosynthesis
Iron uptake and transport
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Posterior column ataxia-retinitis pigmentosa syndrome posterior column ataxia-retinitis pigmentosa syndrome rs1468358104, rs899735028, rs267606820, rs267606819, rs267606821, rs1558121050, rs773064101, rs556788423 N/A
retinal dystrophy Retinal dystrophy rs1216093309, rs556788423 N/A
Jeune Thoracic Dystrophy jeune thoracic dystrophy rs1558104145 N/A
Retinitis Pigmentosa retinitis pigmentosa rs1558112968, rs1572027164, rs556788423 N/A
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Asthma Asthma (childhood onset) N/A N/A GWAS
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Anemia Associate 15369674
Anemia Diamond Blackfan Associate 18815190
Carcinoma Hepatocellular Associate 32626942, 35907846, 36894886
Cholangiocarcinoma Associate 32626942
Colitis Ulcerative Associate 25191865
Colorectal Neoplasms Stimulate 33313944
Craniometaphyseal Dysplasia Autosomal Dominant Associate 38296890
Crohn Disease Associate 25191865
Diabetes Mellitus Type 2 Stimulate 28706239
Glioblastoma Stimulate 32626942