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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

FLVCR1 Gene

protein-coding   GIFtS: 53
GCID: GC01P213031

feline leukemia virus subgroup C cellular receptor 1

(Previous names: ataxia, posterior column 1, with retinitis pigmentosa )
(Previous symbol: AXPC1)
 Explore 15 diseases affiliated with
FLVCR1 via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for FLVCR1    

Aliases
for FLVCR1 gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
Aliases
Feline Leukemia Virus Subgroup C Cellular Receptor 11 2     PCARP2 5
FLVCR1 2 3     Ataxia, Posterior Column 1, With Retinitis Pigmentosa1
AXPC11 2 5     Feline Leukemia Virus Subgroup C Receptor-Related Protein 12
MFSD7B1 2     Feline Leukemia Virus Subgroup C Receptor3
PCA1 2     HFLVCR1

External Ids:    HGNC: 246821   Entrez Gene: 289822   Ensembl: ENSG000001627697   OMIM: 6091445   UniProtKB: Q9Y5Y03   

Export aliases for FLVCR1 gene to outside databases

Previous GC identifers: GC01P211099 GC01P183708


Summaries
for FLVCR1 gene

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section
Entrez Gene summary for FLVCR1:
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)

UniProtKB/Swiss-Prot: FLVC1_HUMAN, Q9Y5Y0
Function: 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

Gene Wiki entry for FLVCR1


Genomic Views
for FLVCR1 gene

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000001.10  NC_018912.1  NT_167186.1  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the FLVCR1 gene promoter:
         NF-YA   C/EBPalpha   PPAR-gamma1   CBF-A   CBF-B   HOXA5   PPAR-gamma2   CP1A   NF-Y   RSRFC4   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: FLVCR1 promoter sequence
   Search SABiosciences Chromatin IP Primers for FLVCR1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat FLVCR1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 1q32.3   Ensembl cytogenetic band:  1q32.3   HGNC cytogenetic band: 1q32.3

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

GeneLoc information about chromosome 1         GeneLoc Exon Structure

GeneLoc location for GC01P213031:  view genomic region     (about GC identifiers)

Start:
 213,031,597 bp from pter      End:
 213,072,705 bp from pter
Size:
 41,109 bases      Orientation:
 plus strand

Proteins
for FLVCR1 gene

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section
UniProtKB/Swiss-Prot: FLVC1_HUMAN, Q9Y5Y0 (See protein sequence)
Recommended Name: Feline leukemia virus subgroup C receptor-related protein 1  
Size: 555 amino acids; 59863 Da
Subunit: Interacts with HPX
Subcellular location: Cell membrane; Multi-pass membrane protein (By similarity)
Developmental stage: Down-regulated in haemopoietic progenitor cells undergoing differentiation and hemoglobinization.
Abundant in fetal liver
Secondary accessions: Q1HE16 Q86XY9 Q9NVR9

Explore the universe of human proteins at neXtProt for FLVCR1: NX_Q9Y5Y0

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q9Y5Y0

    • FLVCR1 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_054772.1  
    ENSEMBL proteins: 
     ENSP00000355938   ENSP00000414680  
    Reactome Protein details: Q9Y5Y0
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    Novus Biologicals FLVCR1 Proteins
    Novus Biologicals FLVCR1 Lysates
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    Browse ProSpec Recombinant Proteins
    Uscn Proteins for FLVCR1

    Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005886plasma membrane TAS--
    GO:0005887integral to plasma membrane TAS10648427


    FLVCR1 for ontologies           About GeneDecksing



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    Uscn Antibodies for FLVCR1
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    Uscn ELISAs and CLIAs for FLVCR1

    Protein Domains /
    Families
    for FLVCR1 gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    FLVCR1 for domains           About GeneDecksing

    3 InterPro domains/families:
     IPR011701 MFS
     IPR020846 MFS_dom
     IPR016196 MFS_dom_general_subst_transpt

    Graphical View of Domain Structure for InterPro Entry Q9Y5Y0

    ProtoNet protein and cluster: Q9Y5Y0

    UniProtKB/Swiss-Prot: FLVC1_HUMAN, Q9Y5Y0
    Similarity: Belongs to the major facilitator superfamily. Feline leukemia virus subgroup C receptor (TC 2.A.1.28.1)
    family


    Function
    for FLVCR1 gene

    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section
    Function Summary:

         UniProtKB/Swiss-Prot: FLVC1_HUMAN, Q9Y5Y0
    Function: 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

    miRNA
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    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat FLVCR1
    8/46 QIAGEN miScript miRNA Assays for microRNAs that regulate FLVCR1 (see all 46):
    hsa-miR-579 hsa-miR-3607-3p hsa-miR-429 hsa-miR-30d hsa-miR-30a hsa-miR-133a hsa-miR-200b hsa-miR-3148
    SwitchGear 3'UTR luciferase reporter plasmid: FLVCR1 3' UTR sequence
    Inhib. RNA
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    OriGene shRNA RFP: FLVCR1
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    Gene Editing
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    Clone
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    Search LifeMap BioReagents cell lines for FLVCR1

    In Situ Assay
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    Gene Ontology (GO): 4 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004872receptor activity ----
    GO:0005215transporter activity TAS10648427
    GO:0005515protein binding IPI--
    GO:0015232heme transporter activity IMP15369674


    FLVCR1 for ontologies           About GeneDecksing


    Animal Models:
         Mouse knock-out Mfsd7btm1.1Jlab for FLVCR1
         11 MGI mutant phenotypes (inferred from 2 alleles) (MGI details for Mfsd7b):
     cardiovascular system  craniofacial  growth/size  hematopoietic system  immune system 
     limbs/digits/tail  mortality/aging  normal  renal/urinary system  reproductive system 
     respiratory system 

    FLVCR1 for phenotypes           About GeneDecksing


    Pathways & Interactions
    for FLVCR1 gene

    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways  About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Insulin receptor recycling
    		Iron uptake and transport0.56
    2SLC-mediated transmembrane transport
    		Transmembrane transport of small molecules0.50

    Pathway sources
    See GeneCards unified pathways
    Show all pathways


    2        Reactome Pathways for FLVCR1
        Transmembrane transport of small molecules
    Iron uptake and transport



    FLVCR1 for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for FLVCR1

    STRING Interaction Network Preview (showing 1 interactants - click image to see more details)

    1 Interacting protein for FLVCR1 (ENSP000003559384) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    UBCENSP000003448184STRING: ENSP00000344818
    About this table

    Gene Ontology (GO): 5/15 biological process terms (GO ID links to tree view) (see all 15):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001701in utero embryonic development IEA--
    GO:0006810transport TAS10648427
    GO:0006879cellular iron ion homeostasis TAS--
    GO:0007275multicellular organismal development TAS10648427
    GO:0008219cell death IEA--


    FLVCR1 for ontologies           About GeneDecksing



    Drugs & Compounds
    for FLVCR1 gene

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for FLVCR1

    1 HMDB Compound for FLVCR1    About this table
    CompoundSynonyms CAS #PubMed Ids
    Heme(protoporphyrinato)iron (see all 19)14875-96-8--
    Search CenterWatch for drugs/clinical trials and news about FLVCR1 / FLVC1 

    Transcripts
    for FLVCR1 gene

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section
    REFSEQ mRNAs for FLVCR1 gene: 
    NM_014053.3  

    Unigene Cluster for FLVCR1:

    Feline leukemia virus subgroup C cellular receptor 1
    Hs.7055  [show with all ESTs]
    Unigene Representative Sequence: NM_014053
    5 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000366971(uc001hjt.3) ENST00000419102 ENST00000579295 ENST00000474693
    ENST00000483790

    miRNA
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    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat FLVCR1
    8/46 QIAGEN miScript miRNA Assays for microRNAs that regulate FLVCR1 (see all 46):
    hsa-miR-579 hsa-miR-3607-3p hsa-miR-429 hsa-miR-30d hsa-miR-30a hsa-miR-133a hsa-miR-200b hsa-miR-3148
    SwitchGear 3'UTR luciferase reporter plasmid: FLVCR1 3' UTR sequence
    Inhib. RNA
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    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for FLVCR1 (see all 4)
    OriGene shRNA RFP: FLVCR1
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    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat FLVCR1
    Clone
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    GenScript: all cDNA clones in your preferred vector: FLVCR1 (NM_014053)
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    Primer
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      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat FLVCR1
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat FLVCR1

    Additional cDNA sequence: 

    AF118637.1 AK001419.1 AK090739.1 AK314481.1 BC048312.1 

    8 DOTS entries:

    DT.215823  DT.439109  DT.91723542  DT.40130704  DT.91723544  DT.100008065  DT.40273750  DT.91866885 

    24/42 AceView cDNA sequences (see all 42):

    AI360630 AK001419 BQ694102 BX462585 BG116640 BG283988 CA407434 AA305281 
    NM_014053 AF118637 BX115707 BE042762 BE904633 AU128008 N78572 BG167060 
    CB121791 AU148769 AW188435 AU124525 BC048312 AL582174 AL560770 BG479760 

    GeneLoc Exon Structure

    4 Alternative Splicing Database (ASD) splice patterns (SP) for FLVCR1    About this scheme

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


    ECgene alternative splicing isoforms for FLVCR1

    Expression
    for FLVCR1 gene

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    FLVCR1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: --

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)
    About this image

    FLVCR1 expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    2 LifeMap In Vivo Development Anatomical Compartments/Cells 
    Tissue Anatomical Compartment CellCategory (developmental path)
    Skeletal MuscleHyoid Arch MusclesMyoblastsSkeletal Muscle
    Skeletal MuscleMandibular Arch MusclesMyoblastsSkeletal Muscle
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization
    Stem Cell Differentiation: 1 LifeMap Cell 
    NameCategory
    Definitive endoderm-like cells (A scalable, suspensi...)

    See FLVCR1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for FLVCR1

    SOURCE GeneReport for Unigene cluster: Hs.7055

    UniProtKB/Swiss-Prot: FLVC1_HUMAN, Q9Y5Y0
    Tissue specificity: Found all hematopoietic tissues including peripheral blood lymphocytes. Some expression is found in
    pancreas and kidney

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    In Situ
    Assay Products:     
         		Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for FLVCR1

    Orthologs
    for FLVCR1 gene

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section
    This gene was present in the common ancestor of animals.

    Orthologs for FLVCR1 gene from 4/19 species (see all 19)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    chicken
    (Gallus gallus)    		 Aves FLVCR11 feline leukemia virus subgroup C cellular receptor more 73.65(n)
    75.05(a)    		   421365  XM_419425.3  XP_419425.2 
    zebrafish
    (Danio rerio)    		 Actinopterygii flvcr11 feline leukemia virus subgroup C cellular receptor more 67.31(n)
    70.45(a)    		   562595  NM_001025522.1  NP_001020693.1 
    fruit fly
    (Drosophila melanogaster)    		 Insecta CG13586
    		 --
    		 47(a)
    		 1 → many
    		 2R(3483240-3508216)
    worm
    (Caenorhabditis elegans)    		 Secernentea C09D4.16
    		 Uncharacterized MFS-type transporter C09D4.1
    		 36(a)
    		 1 → many
    		 I(5497781-5505388)


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

    Paralogs
    for FLVCR1 gene

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for FLVCR1 gene
    MFSD72  FLVCR22  DIRC22  
    1 SIMAP similar gene for FLVCR1 using alignment to 2 protein entries:     FLVC1_HUMAN (see all proteins):
    FLVCR2

    FLVCR1 for paralogs           About GeneDecksing



    Genomic Variants
    for FLVCR1 gene

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/971 NCBI SNPs in FLVCR1 are shown (see all 971)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 1 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs412966601,2
    		C,--183706837(+) AGATAT/GCAGCA 1 -- us2k15Minor allele frequency- G:0.00NS 362
    rs170197801,2
    		C,F,H,--183706888(+) ATACAC/GCTAGT 1 -- us2k127Minor allele frequency- G:0.09NA NS EA CSA WA 2890
    rs412966621,2
    		C,F,--183706953(+) TTTTTT/CCCCAA 1 -- us2k15Minor allele frequency- C:0.03NS 366
    rs12989671,2
    		H--183707006(+) TCCAGG/AAAGAC 1 -- us2k14Minor allele frequency- A:0.00NS EA 420
    rs412966661,2
    		C,F,--183707396(+) CTCACC/TGACAA 1 -- us2k18Minor allele frequency- T:0.04NS NA EA 608
    rs412966681,2
    		C,F,--183707536(+) CTCTCG/ATTCCC 1 -- us2k17Minor allele frequency- A:0.04NS NA 502
    rs412966701,2
    		C,--183707614(+) TAGAGC/TGACTG 1 -- us2k16Minor allele frequency- T:0.01NS WA 494
    rs115811871,2
    		C,H--183707695(+) GCATTC/TTAAGC 1 -- us2k14Minor allele frequency- T:0.00NS EA 418
    rs118035581,2
    		H--183707759(+) CAAGTC/TTGCGG 1 -- us2k14Minor allele frequency- T:0.00NS EA 418
    rs412966741,2
    		C,F,--183708031(+) TCCTGG/TGCTCA 1 -- us2k17Minor allele frequency- T:0.04NS NA 488

    HapMap Linkage Disequilibrium report for FLVCR1 (213031597 - 213072705 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 2 variations for FLVCR1
         2 Indels: 39680 24059
    Human Gene Mutation Database (HGMD): FLVCR1

    SABiosciences Cancer Mutation PCR Assays
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    Disorders / Diseases
    for FLVCR1 gene

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    FLVCR1 for disorders           About GeneDecksing

    OMIM gene information: 609144   
    OMIM disorders: 609033  
    UniProtKB/Swiss-Prot: FLVC1_HUMAN, Q9Y5Y0
  • Defects in FLVCR1 are the cause of 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. Note=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

    15 diseases for FLVCR1:    About MalaCards
    posterior column ataxia with retinitis pigmentosa    posterior column ataxia    retinitis pigmentosa    ataxia
    retinitis    diamond-blackfan anemia    sensory peripheral neuropathy    leukemia
    peripheral neuropathy    night blindness    achalasia    neuropathy
    scoliosis    blindness    anemia

    2 diseases from the University of Copenhagen DISEASES database for FLVCR1:
    Diamond-Blackfan anemia     Retinitis pigmentosa

    Export disorders for FLVCR1 gene to outside databases

    Publications
    for FLVCR1 gene

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for FLVCR1 gene, integrated from 9 sources (see all 36):
    (articles sorted by number of sources associating them with FLVCR1)    		    Utopia: connect your pdf to the dynamic
    world of online information

    1. A putative cell surface receptor for anemia-inducing feline leukemia virus subgroup C is a member of a transporter superfamily. (PubMed id 10400745)1, 2, 3, 9 Tailor C.S.... Kabat D. (1999)
    2. Mutations in FLVCR1 cause posterior column ataxia and retinitis pigmentosa. (PubMed id 21070897)1, 2, 3 Rajadhyaksha A.M....Higgins J.J. (2010)
    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. (PubMed id 11943475)1, 2, 9 Lipovich L.... Quigley J.G. (2002)
    4. Posterior column ataxia with retinitis pigmentosa in a Japanese family with a novel mutation in FLVCR1. (PubMed id 21267618)1, 2 Ishiura H....Tsuji S. (2011)
    5. Kinetics and specificity of feline leukemia virus sub group C receptor (FLVCR) export function and its dependence on hemopexin. (PubMed id 20610401)1, 2 Yang Z....Abkowitz J.L. (2010)
    6. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    7. Identification of a human heme exporter that is essential for erythropoiesis. (PubMed id 15369674)1, 2 Quigley J.G.... Abkowitz J.L. (2004)
    8. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
    9. Cloning of the cellular receptor for feline leukemia virus subgroup C (FeLV-C), a retrovirus that induces red cell aplasia. (PubMed id 10648427)1, 3 Quigley J.G....Abkowitz J.L. (2000)
    10. Enhanced alternative splicing of the FLVCR1 gene in Diamond Blackfan anemia disrupts FLVCR1 expression and function that are critical for erythropoiesis. (PubMed id 18815190)1, 9 Rey M.A....Tailor C.S. (2008)

    External Searches for FLVCR1 gene

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
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    Genome Databases showing FLVCR1 gene

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 28982 HGNC: 24682 AceView: FLVCR Ensembl:ENSG00000162769 euGenes: HUgn28982
    ECgene: FLVCR1 H-InvDB: FLVCR1

    Other Databases showing FLVCR1 gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing FLVCR1 gene

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for FLVCR1 Pharmacogenomics, SNPs, Pathways

    Intellectual Property
    for FLVCR1 gene

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    		Patent Information for FLVCR1 gene:
    Search GeneIP for patents involving FLVCR1

    GeneCards and IP:
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