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

Gene ID: 28982, updated on 18-Sep-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
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Genomic context

See FLVCR1 in Genome Data Viewer
Location:
1q32.3
Exon count:
13
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (212858275..212899363)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (212103255..212144367)
RS_2024_09 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 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 choline transmembrane transporter activity IDA
Inferred from Direct Assay
more info
PubMed 
enables ethanolamine transmembrane transporter activity IDA
Inferred from Direct Assay
more info
PubMed 
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 choline transport IDA
Inferred from Direct Assay
more info
PubMed 
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 ethanolamine transport 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 phospholipid biosynthetic process IDA
Inferred from Direct Assay
more info
PubMed 
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 
is_active_in plasma membrane 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)

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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_2024_08

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