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    FLVCR1 FLVCR choline and heme transporter 1 [ Homo sapiens (human) ]

    Gene ID: 28982, updated on 10-Jun-2024

    Summary

    Official Symbol
    FLVCR1provided by HGNC
    Official Full Name
    FLVCR choline and heme transporter 1provided by HGNC
    Primary source
    HGNC:HGNC:24682
    See related
    Ensembl:ENSG00000162769 MIM:609144; AllianceGenome:HGNC:24682
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    PCA; AXPC1; FLVCR; PCARP; MFSD7B; SLC49A1
    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 play a role in posterior column ataxia with retinitis pigmentosa and the hematological disorder Diamond-Blackfan syndrome. [provided by RefSeq, Jan 2011]
    Expression
    Broad expression in small intestine (RPKM 9.2), duodenum (RPKM 4.1) and 21 other tissues See more
    Orthologs
    NEW
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    Try the new Transcript table

    Genomic context

    See FLVCR1 in Genome Data Viewer
    Location:
    1q32.3
    Exon count:
    13
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (212858275..212899363)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (212103255..212144367)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (213031617..213072705)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1806 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1807 Neighboring gene FLVCR1 divergent transcript Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:213036285-213036786 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:213036787-213037286 Neighboring gene ribosomal protein S28 pseudogene 2 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:213081521-213082376 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:213082377-213083234 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:213083235-213084090 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr1:213087077-213087678 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr1:213087679-213088279 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:213088280-213088881 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:213090085-213090684 Neighboring gene uncharacterized LOC124904507 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:213093647-213094446 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:213101650-213102592 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:213102593-213103534 Neighboring gene MPRA-validated peak689 silencer Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2520 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2521 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2522 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:213131647-213132304 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:213132964-213133621 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:213133682-213134182 Neighboring gene vasohibin 2 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:213141040-213141685 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2524 Neighboring gene Sharpr-MPRA regulatory region 1741 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2525 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2526

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • FLJ33420

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables heme binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables heme transmembrane transporter activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables heme transmembrane transporter activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables heme transmembrane transporter activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    enables heme transmembrane transporter activity TAS
    Traceable Author Statement
    more info
     
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in blood vessel development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in embryonic digit morphogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in embryonic skeletal system morphogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in erythrocyte differentiation IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    acts_upstream_of_or_within erythrocyte differentiation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in erythrocyte maturation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in head morphogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in heme biosynthetic process TAS
    Traceable Author Statement
    more info
     
    involved_in heme export IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in heme export IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within heme transport IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in in utero embryonic development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in intracellular iron ion homeostasis TAS
    Traceable Author Statement
    more info
     
    involved_in mitochondrial transport IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    acts_upstream_of_or_within mitochondrial transport IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in multicellular organism growth IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in regulation of organ growth IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in spleen development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in transmembrane transport IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    is_active_in membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in mitochondrial inner membrane TAS
    Traceable Author Statement
    more info
     
    is_active_in mitochondrion IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in mitochondrion IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in plasma membrane TAS
    Traceable Author Statement
    more info
     

    General protein information

    Preferred Names
    heme transporter FLVCR1
    Names
    FLVCR heme transporter 1
    feline leukemia virus subgroup C cellular receptor 1
    feline leukemia virus subgroup C receptor-related protein 1

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_028131.1 RefSeqGene

      Range
      5021..46109
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_014053.4NP_054772.1  heme transporter FLVCR1

      See identical proteins and their annotated locations for NP_054772.1

      Status: REVIEWED

      Source sequence(s)
      AC104333, AF118637, AK090739, AK314481, GD138340
      Consensus CDS
      CCDS1510.1
      UniProtKB/Swiss-Prot
      Q1HE16, Q86XY9, Q9NVR9, Q9Y5Y0
      UniProtKB/TrEMBL
      B2RB38
      Related
      ENSP00000355938.4, ENST00000366971.9
      Conserved Domains (2) summary
      cd06174
      Location:111512
      MFS; The Major Facilitator Superfamily (MFS) is a large and diverse group of secondary transporters that includes uniporters, symporters, and antiporters. MFS proteins facilitate the transport across cytoplasmic or internal membranes of a variety of ...
      pfam07690
      Location:113478
      MFS_1; Major Facilitator Superfamily

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000001.11 Reference GRCh38.p14 Primary Assembly

      Range
      212858275..212899363
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011509447.3XP_011507749.1  heme transporter FLVCR1 isoform X1

      See identical proteins and their annotated locations for XP_011507749.1

      Conserved Domains (2) summary
      cd06174
      Location:111294
      MFS; The Major Facilitator Superfamily (MFS) is a large and diverse group of secondary transporters that includes uniporters, symporters, and antiporters. MFS proteins facilitate the transport across cytoplasmic or internal membranes of a variety of ...
      pfam07690
      Location:113294
      MFS_1; Major Facilitator Superfamily
    2. XM_011509448.2XP_011507750.1  heme transporter FLVCR1 isoform X1

      See identical proteins and their annotated locations for XP_011507750.1

      Conserved Domains (2) summary
      cd06174
      Location:111294
      MFS; The Major Facilitator Superfamily (MFS) is a large and diverse group of secondary transporters that includes uniporters, symporters, and antiporters. MFS proteins facilitate the transport across cytoplasmic or internal membranes of a variety of ...
      pfam07690
      Location:113294
      MFS_1; Major Facilitator Superfamily

    RNA

    1. XR_247024.4 RNA Sequence

    2. XR_007059232.1 RNA Sequence

    3. XR_426771.2 RNA Sequence

    4. XR_426772.4 RNA Sequence

    5. XR_921769.2 RNA Sequence

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060925.1 Alternate T2T-CHM13v2.0

      Range
      212103255..212144367
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054336162.1XP_054192137.1  heme transporter FLVCR1 isoform X2

      UniProtKB/TrEMBL
      B2RB38
    2. XM_054336165.1XP_054192140.1  heme transporter FLVCR1 isoform X3

    3. XM_054336163.1XP_054192138.1  heme transporter FLVCR1 isoform X1

    4. XM_054336164.1XP_054192139.1  heme transporter FLVCR1 isoform X1

    RNA

    1. XR_008486008.1 RNA Sequence

    2. XR_008486009.1 RNA Sequence

    3. XR_008486010.1 RNA Sequence

    4. XR_008486011.1 RNA Sequence