Gene Gene information from NCBI Gene database.
Entrez ID 28982
Gene name FLVCR choline and heme transporter 1
Gene symbol FLVCR1
Synonyms (NCBI Gene)
AXPC1FLVCRMFSD7BNEDMISHPCAPCARPRETSNSSLC49A1
Chromosome 1
Chromosome location 1q32.3
Summary 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.
17
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.
684
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 (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
48
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 identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
609144 24682 ENSG00000162769
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
218
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Cervical cancer Likely pathogenic; Pathogenic rs556788423 RCV005900701
FLVCR1-related disorder Likely pathogenic; Pathogenic rs556788423 RCV003418102
Hereditary sensory and autonomic neuropathy Likely pathogenic rs1664140651 RCV001261546
Jeune thoracic dystrophy Likely pathogenic rs1558104145 RCV000755162
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Abnormal retinal morphology Uncertain significance rs2102526758 RCV002226980
Neurodevelopmental disorder with microcephaly, absent speech, and hypotonia Uncertain significance rs2102568794, rs754655924 RCV005050403
RCV005049768
Sensory neuropathy Uncertain significance rs2102526758 RCV002226980
Associations from Text MiningDisease 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