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Aliases for FLVCR1 Gene

Aliases for FLVCR1 Gene

  • Feline Leukemia Virus Subgroup C Cellular Receptor 1 2 3
  • PCARP 3 6
  • AXPC1 3 6
  • FLVCR 3 4
  • Feline Leukemia Virus Subgroup C Receptor-Related Protein 1 3
  • Ataxia, Posterior Column 1, With Retinitis Pigmentosa 2
  • Feline Leukemia Virus Subgroup C Receptor 4
  • MFSD7B 3
  • HFLVCR 4
  • PCA 3

External Ids for FLVCR1 Gene

Previous HGNC Symbols for FLVCR1 Gene

  • AXPC1

Previous GeneCards Identifiers for FLVCR1 Gene

  • GC01P211099
  • GC01P213031
  • GC01P183708

Summaries for FLVCR1 Gene

Entrez Gene Summary for FLVCR1 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 play a role in posterior column ataxia with retinitis pigmentosa and the hematological disorder Diamond-Blackfan syndrome. [provided by RefSeq, Jan 2011]

GeneCards Summary for FLVCR1 Gene

FLVCR1 (Feline Leukemia Virus Subgroup C Cellular Receptor 1) is a Protein Coding gene. Diseases associated with FLVCR1 include ataxia, posterior column, with retinitis pigmentosa and posterior column ataxia. Among its related pathways are Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds and Insulin receptor recycling. GO annotations related to this gene include transporter activity and heme transporter activity. An important paralog of this gene is FLVCR2.

UniProtKB/Swiss-Prot for FLVCR1 Gene

  • Isoform 1: Heme transporter that exports cytoplasmic heme. It can also export coproporphyrin and protoporphyrin IX, which are both intermediate products in the heme biosynthetic pathway. Does not export bilirubin. Heme export depends on the presence of HPX and may be required to protect developing erythroid cells from heme toxicity. Heme export also provides protection from heme or ferrous iron toxicities in liver and brain. Causes susceptibility to FeLV-C in vitro. Required during erythtopoiesis to maintain intracellular free heme balance since in proerythroblasts, heme synthesis intensifies and its accumulation is toxic for cells

  • Isoform 2: Heme transporter that promotes heme efflux from the mitochondrion to the cytoplasm. Essential for erythroid differentiation

Gene Wiki entry for FLVCR1 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for FLVCR1 Gene

Genomics for FLVCR1 Gene

Regulatory Elements for FLVCR1 Gene

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for FLVCR1 Gene

Start:
212,858,255 bp from pter
End:
212,899,363 bp from pter
Size:
41,109 bases
Orientation:
Plus strand

Genomic View for FLVCR1 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for FLVCR1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for FLVCR1 Gene

Proteins for FLVCR1 Gene

  • Protein details for FLVCR1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9Y5Y0-FLVC1_HUMAN
    Recommended name:
    Feline leukemia virus subgroup C receptor-related protein 1
    Protein Accession:
    Q9Y5Y0
    Secondary Accessions:
    • Q1HE16
    • Q86XY9
    • Q9NVR9

    Protein attributes for FLVCR1 Gene

    Size:
    555 amino acids
    Molecular mass:
    59863 Da
    Quaternary structure:
    • Interacts with HPX.

    Alternative splice isoforms for FLVCR1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for FLVCR1 Gene

Proteomics data for FLVCR1 Gene at MOPED

Post-translational modifications for FLVCR1 Gene

Other Protein References for FLVCR1 Gene

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

Antibody Products

No data available for DME Specific Peptides for FLVCR1 Gene

Domains for FLVCR1 Gene

Protein Domains for FLVCR1 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for FLVCR1 Gene

Graphical View of Domain Structure for InterPro Entry

Q9Y5Y0

UniProtKB/Swiss-Prot:

FLVC1_HUMAN :
  • Q9Y5Y0
Family:
  • Belongs to the major facilitator superfamily. Feline leukemia virus subgroup C receptor (TC 2.A.1.28.1) family.
genes like me logo Genes that share domains with FLVCR1: view

Function for FLVCR1 Gene

Molecular function for FLVCR1 Gene

UniProtKB/Swiss-Prot Function:
Isoform 1: Heme transporter that exports cytoplasmic heme. It can also export coproporphyrin and protoporphyrin IX, which are both intermediate products in the heme biosynthetic pathway. Does not export bilirubin. Heme export depends on the presence of HPX and may be required to protect developing erythroid cells from heme toxicity. Heme export also provides protection from heme or ferrous iron toxicities in liver and brain. Causes susceptibility to FeLV-C in vitro. Required during erythtopoiesis to maintain intracellular free heme balance since in proerythroblasts, heme synthesis intensifies and its accumulation is toxic for cells
UniProtKB/Swiss-Prot Function:
Isoform 2: Heme transporter that promotes heme efflux from the mitochondrion to the cytoplasm. Essential for erythroid differentiation

Gene Ontology (GO) - Molecular Function for FLVCR1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005215 transporter activity TAS 10648427
GO:0005515 protein binding IPI 20610401
GO:0015232 heme transporter activity IMP 15369674
genes like me logo Genes that share ontologies with FLVCR1: view
genes like me logo Genes that share phenotypes with FLVCR1: view

Animal Models for FLVCR1 Gene

MGI Knock Outs for FLVCR1:

Animal Model Products

CRISPR Products

miRNA for FLVCR1 Gene

miRTarBase miRNAs that target FLVCR1

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for FLVCR1

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targeting and HOMER Transcription for FLVCR1 Gene

Localization for FLVCR1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for FLVCR1 Gene

Isoform 1: Cell membrane; Multi-pass membrane protein.
Isoform 2: Mitochondrion membrane; Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for FLVCR1 Gene COMPARTMENTS Subcellular localization image for FLVCR1 gene
Compartment Confidence
plasma membrane 5

Gene Ontology (GO) - Cellular Components for FLVCR1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion IDA 23187127
GO:0005886 plasma membrane TAS --
GO:0005887 integral component of plasma membrane TAS 10648427
GO:0016021 integral component of membrane --
GO:0031966 mitochondrial membrane IEA --
genes like me logo Genes that share ontologies with FLVCR1: view

Pathways for FLVCR1 Gene

genes like me logo Genes that share pathways with FLVCR1: view

Pathways by source for FLVCR1 Gene

Interacting Proteins for FLVCR1 Gene

STRING Interaction Network Preview (showing 2 interactants - click image to see details)
http://string-db.org/version_10/api/image/networkList?limit=0&targetmode=proteins&caller_identity=gene_cards&network_flavor=evidence&identifiers=9606.ENSP00000355938%0d%0a9606.ENSP00000344818%0d%0a9606.ENSP00000201031%0d%0a
Selected Interacting proteins: ENSP00000355938 for FLVCR1 Gene via STRING

Gene Ontology (GO) - Biological Process for FLVCR1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001568 blood vessel development IEA --
GO:0001701 in utero embryonic development IEA --
GO:0006810 transport TAS 10648427
GO:0006839 mitochondrial transport IDA 23187127
GO:0006879 cellular iron ion homeostasis TAS --
genes like me logo Genes that share ontologies with FLVCR1: view

Compounds for FLVCR1 Gene

(1) HMDB Compounds for FLVCR1 Gene

Compound Synonyms Cas Number PubMed IDs
Heme
  • (protoporphyrinato)iron
14875-96-8
genes like me logo Genes that share compounds with FLVCR1: view

Transcripts for FLVCR1 Gene

Unigene Clusters for FLVCR1 Gene

Feline leukemia virus subgroup C cellular receptor 1:
Representative Sequences:

CRISPR Products

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for FLVCR1

Primer Products

  • QuantiTect SYBR Green Assays in human,mouse,rat
  • Pre-validated RT² qPCR Primer Assay in human,mouse,rat
  • QuantiFast Probe-based Assays in human,mouse,rat

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for FLVCR1 Gene

ExUns: 1a · 1b ^ 2a · 2b ^ 3a · 3b ^ 4 ^ 5 ^ 6 ^ 7a · 7b ^ 8 ^ 9 ^ 10 ^ 11 ^ 12
SP1: - - - - -
SP2: - - - - - -
SP3: -
SP4:

Relevant External Links for FLVCR1 Gene

GeneLoc Exon Structure for
FLVCR1
ECgene alternative splicing isoforms for
FLVCR1

Expression for FLVCR1 Gene

mRNA expression in normal human tissues for FLVCR1 Gene

Protein differential expression in normal tissues for FLVCR1 Gene

This gene is overexpressed in Fetal Liver (39.0) and Fetal testis (30.0).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for FLVCR1 Gene

SOURCE GeneReport for Unigene cluster for FLVCR1 Gene Hs.7055

mRNA Expression by UniProt/SwissProt for FLVCR1 Gene

Q9Y5Y0-FLVC1_HUMAN
Tissue specificity: Found all hematopoietic tissues including peripheral blood lymphocytes. Some expression is found in pancreas and kidney.
genes like me logo Genes that share expressions with FLVCR1: view

Expression partners for FLVCR1 Gene

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA differential expression in normal tissues for FLVCR1 Gene

Orthologs for FLVCR1 Gene

This gene was present in the common ancestor of animals.

Orthologs for FLVCR1 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia FLVCR1 35
  • 87.81 (n)
  • 86.49 (a)
FLVCR1 36
  • 86 (a)
OneToOne
dog
(Canis familiaris)
Mammalia FLVCR1 35
  • 88.59 (n)
  • 86.49 (a)
FLVCR1 36
  • 86 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Mfsd7b 35
  • 81.72 (n)
  • 80.99 (a)
Mfsd7b 16
Mfsd7b 36
  • 79 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia FLVCR1 35
  • 99.7 (n)
  • 99.82 (a)
FLVCR1 36
  • 100 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia FLVCR1 36
  • 71 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia FLVCR1 36
  • 66 (a)
OneToOne
chicken
(Gallus gallus)
Aves FLVCR1 35
  • 73.58 (n)
  • 74.9 (a)
FLVCR1 36
  • 72 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia FLVCR1 36
  • 79 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia flvcr1 35
  • 69.99 (n)
  • 75 (a)
zebrafish
(Danio rerio)
Actinopterygii flvcr1 35
  • 66.6 (n)
  • 69.56 (a)
flvcr1 36
  • 64 (a)
OneToOne
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.1424 35
fruit fly
(Drosophila melanogaster)
Insecta CG1358 36
  • 49 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea C09D4.1 36
  • 38 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 47 (a)
ManyToMany
-- 36
  • 22 (a)
ManyToMany
-- 36
  • 48 (a)
ManyToMany
-- 36
  • 54 (a)
ManyToMany
Species with no ortholog for FLVCR1:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rat (Rattus norvegicus)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for FLVCR1 Gene

ENSEMBL:
Gene Tree for FLVCR1 (if available)
TreeFam:
Gene Tree for FLVCR1 (if available)

Paralogs for FLVCR1 Gene

Paralogs for FLVCR1 Gene

Selected SIMAP similar genes for FLVCR1 Gene using alignment to 2 proteins:

genes like me logo Genes that share paralogs with FLVCR1: view

Variants for FLVCR1 Gene

Sequence variations from dbSNP and Humsavar for FLVCR1 Gene

SNP ID Clin Chr 01 pos Sequence Context AA Info Type MAF
rs10902 -- 212,898,258(+) CAAAT(A/G)TGATT utr-variant-3-prime
rs15903 -- 212,898,603(-) CAATT(A/C)ATTTT utr-variant-3-prime
rs931591 -- 212,860,971(+) cctat(C/G)tgtag intron-variant
rs963327 -- 212,864,282(+) CAAGG(A/C)TTTCC intron-variant
rs963328 -- 212,864,319(+) ATGTT(G/T)ACTAG intron-variant

Structural Variations from Database of Genomic Variants (DGV) for FLVCR1 Gene

Variant ID Type Subtype PubMed ID
esv2674192 CNV Deletion 23128226
esv2722517 CNV Deletion 23290073
esv1413001 CNV Deletion 17803354
dgv99n67 CNV Loss 20364138

Relevant External Links for FLVCR1 Gene

HapMap Linkage Disequilibrium report
FLVCR1
Human Gene Mutation Database (HGMD)
FLVCR1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for FLVCR1 Gene

Disorders for FLVCR1 Gene

(1) OMIM Diseases for FLVCR1 Gene (609144)

UniProtKB/Swiss-Prot

FLVC1_HUMAN
  • Posterior column ataxia with retinitis pigmentosa (PCARP) [MIM:609033]: A neurodegenerative syndrome beginning in infancy with areflexia and retinitis pigmentosa. Nyctalopia (night blindness) and peripheral visual field loss are usually evident during late childhood or teenage years, with subsequent progressive constriction of the visual fields and loss of central retinal function over time. A sensory ataxia caused by degeneration of the posterior columns of the spinal cord results in a loss of proprioceptive sensation that is clinically evident in the second decade of life and gradually progresses. Scoliosis, camptodactyly, achalasia, gastrointestinal dysmotility, and a sensory peripheral neuropathy are variable features of the disease. Affected individuals have no clinical or radiological evidence of cerebral or cerebellar involvement. {ECO:0000269 PubMed:21070897, ECO:0000269 PubMed:21267618}. Note=The disease is caused by mutations affecting the gene represented in this entry. Defective neuronal heme transmembrane export due to FLVCR1 mutations may abrogate the neuroprotective effects of neuroglobin and initiate an apoptotic cascade that results in the selective degeneration of photoreceptors in the neurosensory retina and sensory neurons in the posterior spinal cord.

(2) University of Copenhagen DISEASES for FLVCR1 Gene

Relevant External Links for FLVCR1

Genetic Association Database (GAD)
FLVCR1
genes like me logo Genes that share disorders with FLVCR1: view

No data available for Novoseek inferred disease relationships and Genatlas for FLVCR1 Gene

Publications for FLVCR1 Gene

  1. A putative cell surface receptor for anemia-inducing feline leukemia virus subgroup C is a member of a transporter superfamily. (PMID: 10400745) Tailor C.S. … Kabat D. (J. Virol. 1999) 2 3 4 23
  2. Genomic structure and evolutionary context of the human feline leukemia virus subgroup C receptor (hFLVCR) gene: evidence for block duplications and de novo gene formation within duplicons of the hFLVCR locus. (PMID: 11943475) Lipovich L. … Quigley J.G. (Gene 2002) 3 4 23
  3. Mutations in FLVCR1 cause posterior column ataxia and retinitis pigmentosa. (PMID: 21070897) Rajadhyaksha A.M. … Higgins J.J. (Am. J. Hum. Genet. 2010) 2 3 4
  4. Kinetics and specificity of feline leukemia virus subgroup C receptor (FLVCR) export function and its dependence on hemopexin. (PMID: 20610401) Yang Z. … Abkowitz J.L. (J. Biol. Chem. 2010) 3 4
  5. Cloning of the cellular receptor for feline leukemia virus subgroup C (FeLV-C), a retrovirus that induces red cell aplasia. (PMID: 10648427) Quigley J.G. … Abkowitz J.L. (Blood 2000) 2 3

Products for FLVCR1 Gene

Sources for FLVCR1 Gene

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