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Aliases for FLVCR1 Gene

Aliases for FLVCR1 Gene

  • Feline Leukemia Virus Subgroup C Cellular Receptor 1 2 3 5
  • 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
  • PCARP 3
  • AXPC1 3
  • 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 Insulin receptor recycling and Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds. 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

Enhancers for FLVCR1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH01F212789 1.2 ENCODE 36.8 -66.7 -66659 4.4 CREB3L1 MLX ZFP64 FEZF1 DMAP1 YY1 SLC30A9 ZNF143 ZNF263 SP3 FLVCR1 FLVCR1-AS1 TATDN3 RPL21P28 LOC105372907 ENSG00000225233 LOC105372912 ANGEL2 RPS28P2 ENSG00000235182
GH01F212634 1.6 FANTOM5 Ensembl ENCODE 19.9 -220.9 -220883 5.7 PKNOX1 ATF1 ARNT SIN3A FEZF1 GLIS2 ELK1 GATA2 FOS KDM4B FLVCR1 ATF3 BATF3 RPS6KC1 FLVCR1-AS1 TATDN3 PPP2R5A VASH2 LOC105372909 ENSG00000235862
GH01F212557 1.4 Ensembl ENCODE 20.6 -298.3 -298305 4.8 HDGF ARNT CREB3L1 ARID4B DMAP1 YY1 SLC30A9 ZNF143 FOS KLF13 ANGEL2 FLVCR1 ENSG00000260805 ATF3
GH01F212915 1.1 FANTOM5 ENCODE 25.4 +57.7 57717 2.8 CTCF ARID4B CEBPG ZIC2 RAD21 ZFHX2 EGR1 POLR2A SMC3 NFE2 FLVCR1-AS1 FLVCR1 TATDN3 SPATA45 VASH2 ENSG00000282718 GC01M212767
GH01F212430 1.1 ENCODE 21.2 -426.1 -426083 4.2 SIN3A FEZF1 ZNF2 ZNF207 KLF13 SP3 SP5 REST SMARCB1 MEF2D LOC101929541 FLVCR1 PPP2R5A DTL INTS7 NEK2 ENSG00000212187 BATF3 TMEM206 LOC105372906
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around FLVCR1 on UCSC Golden Path with GeneCards custom track

Promoters for FLVCR1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00001528581 845 3801 HDGF PKNOX1 ARNT CREB3L1 WRNIP1 ZFP64 ARID4B SIN3A FEZF1 DMAP1

Genomic Location for FLVCR1 Gene

Chromosome:
1
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

Genes around FLVCR1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
FLVCR1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
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

Post-translational modifications for FLVCR1 Gene

Other Protein References for FLVCR1 Gene

No data available for DME Specific Peptides for FLVCR1 Gene

Domains & Families 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 :
  • Belongs to the major facilitator superfamily. Feline leukemia virus subgroup C receptor (TC 2.A.1.28.1) family.
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 TAS --
genes like me logo Genes that share ontologies with FLVCR1: view
genes like me logo Genes that share phenotypes with FLVCR1: view

Human Phenotype Ontology for FLVCR1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for FLVCR1 Gene

MGI Knock Outs for FLVCR1:

Animal Model Products

miRNA for FLVCR1 Gene

miRTarBase miRNAs that target FLVCR1

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets 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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for FLVCR1 gene
Compartment Confidence
plasma membrane 5
mitochondrion 5
cytosol 1

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:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with FLVCR1: view

Pathways & Interactions 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: Q9Y5Y0-FLVC1_HUMAN ENSP00000355938 for FLVCR1 Gene via IID 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

No data available for SIGNOR curated interactions for FLVCR1 Gene

Drugs & Compounds for FLVCR1 Gene

(1) Drugs for FLVCR1 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
heme Pharma Agonist 0
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:

Inhibitory RNA Products

Clone Products

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 from GTEx, Illumina, BioGPS, and SAGE for FLVCR1 Gene

Protein differential expression in normal tissues from HIPED for FLVCR1 Gene

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

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for FLVCR1 Gene



Protein tissue co-expression partners for FLVCR1 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of FLVCR1 Gene:

FLVCR1

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 expression patterns with FLVCR1: view

Primer 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
chimpanzee
(Pan troglodytes)
Mammalia FLVCR1 34 35
  • 99.7 (n)
dog
(Canis familiaris)
Mammalia FLVCR1 34 35
  • 88.59 (n)
cow
(Bos Taurus)
Mammalia FLVCR1 34 35
  • 87.81 (n)
mouse
(Mus musculus)
Mammalia Mfsd7b 16 35 34
  • 81.72 (n)
oppossum
(Monodelphis domestica)
Mammalia FLVCR1 35
  • 71 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia FLVCR1 35
  • 66 (a)
OneToOne
chicken
(Gallus gallus)
Aves FLVCR1 34 35
  • 73.58 (n)
lizard
(Anolis carolinensis)
Reptilia FLVCR1 35
  • 79 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia flvcr1 34
  • 69.99 (n)
zebrafish
(Danio rerio)
Actinopterygii flvcr1 34 35
  • 66.6 (n)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.1424 34
fruit fly
(Drosophila melanogaster)
Insecta CG1358 35
  • 49 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea C09D4.1 35
  • 38 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 54 (a)
ManyToMany
-- 35
  • 48 (a)
ManyToMany
-- 35
  • 47 (a)
ManyToMany
-- 35
  • 22 (a)
ManyToMany
Species where no ortholog for FLVCR1 was found in the sources mined by GeneCards:
  • 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

(1) 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
rs267606819 Posterior column ataxia with retinitis pigmentosa (PCARP) [MIM:609033], Pathogenic 212,859,173(+) CCACC(A/G)CCGTG nc-transcript-variant, upstream-variant-2KB, reference, missense
rs267606820 Posterior column ataxia with retinitis pigmentosa (PCARP) [MIM:609033], Pathogenic 212,858,813(+) TGGTC(A/G)ACGCC nc-transcript-variant, upstream-variant-2KB, reference, missense
rs267606821 Posterior column ataxia with retinitis pigmentosa (PCARP) [MIM:609033], Pathogenic 212,859,026(+) TCAAG(C/T)GCGGC nc-transcript-variant, upstream-variant-2KB, reference, missense
VAR_065161 Posterior column ataxia with retinitis pigmentosa (PCARP) [MIM:609033]
rs11120047 Likely benign 212,858,606(+) ATGGG(C/G)CCCCC nc-transcript-variant, upstream-variant-2KB, reference, missense

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

Variant ID Type Subtype PubMed ID
nsv1135755 CNV deletion 24896259
nsv1008383 CNV gain 25217958
nsv1007129 CNV gain 25217958
esv3588758 CNV loss 21293372
esv3546221 CNV deletion 23714750
esv2722517 CNV deletion 23290073
esv2674192 CNV deletion 23128226
esv1413001 CNV deletion 17803354
dgv99n67 CNV loss 20364138
dgv572n100 CNV gain 25217958
dgv571n100 CNV gain 25217958

Variation tolerance for FLVCR1 Gene

Residual Variation Intolerance Score: 44% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 10.11; 90.24% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for FLVCR1 Gene

Human Gene Mutation Database (HGMD)
FLVCR1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
FLVCR1

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

Disorders for FLVCR1 Gene

MalaCards: The human disease database

(8) MalaCards diseases for FLVCR1 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
ataxia, posterior column, with retinitis pigmentosa
  • posterior column ataxia with retinitis pigmentosa
posterior column ataxia
  • biemond ataxia
retinitis
ataxia
sensory peripheral neuropathy
  • peripheral sensory neuropathy
- elite association - COSMIC cancer census association via MalaCards

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.

Relevant External Links for FLVCR1

Genetic Association Database (GAD)
FLVCR1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
FLVCR1
genes like me logo Genes that share disorders with FLVCR1: view

No data available for 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 22 64
  2. 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 64
  3. 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 22 64
  4. The mitochondrial heme exporter FLVCR1b mediates erythroid differentiation. (PMID: 23187127) Chiabrando D. … Tolosano E. (J. Clin. Invest. 2012) 3 4 64
  5. Posterior column ataxia with retinitis pigmentosa in a Japanese family with a novel mutation in FLVCR1. (PMID: 21267618) Ishiura H. … Tsuji S. (Neurogenetics 2011) 3 4 64

Products for FLVCR1 Gene

Sources for FLVCR1 Gene

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