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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. [pr... See more...
Aliases for FLVCR1 Gene
Aliases for FLVCR1 Gene
External Ids for FLVCR1 Gene
- HGNC: 24682
- NCBI Entrez Gene: 28982
- Ensembl: ENSG00000162769
- OMIM®: 609144
- UniProtKB/Swiss-Prot: Q9Y5Y0
Previous HGNC Symbols for FLVCR1 Gene
- AXPC1
Previous GeneCards Identifiers for FLVCR1 Gene
- GC01P211099
- GC01P213031
- GC01P183708
Summaries 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 (FLVCR Heme Transporter 1) is a Protein Coding gene. Diseases associated with FLVCR1 include Posterior Column Ataxia With Retinitis Pigmentosa and Retinitis Pigmentosa. 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. Gene Ontology (GO) annotations related to this gene include transporter activity and heme transporter activity. An important paralog of this gene is FLVCR2.
UniProtKB/Swiss-Prot Summary 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 is required to maintain intracellular free heme balance, protecting cells from heme toxicity. Heme export provides protection from heme or ferrous iron toxicities in liver, brain, sensory neurons and during erythtopoiesis, a process in which heme synthesis intensifies. Causes susceptibility to FeLV-C in vitro.
-
[Isoform 2]: Heme transporter that promotes heme efflux from the mitochondrion to the cytoplasm. Essential for erythroid differentiation.
Additional gene information for FLVCR1 Gene
- HGNC (24682)
- NCBI Entrez Gene (28982)
- Ensembl (ENSG00000162769)
- OMIM® (609144)
- UniProtKB/Swiss-Prot (Q9Y5Y0)
- Open Targets Platform(ENSG00000162769)
- Monarch Initiative
- Alliance of Genome Resources
- Search for FLVCR1 at DataMed
- Search for FLVCR1 at HumanCyc
No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for FLVCR1 Gene
Genomics for FLVCR1 Gene
GeneHancer (GH) Regulatory Elements Pubs
Promoters and enhancers for FLVCR1 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data from 2017 publication |
Request up-to-date GeneHancer data (full dataset)
GeneHancers around FLVCR1 on the GeneHancer Hub at the UCSC Golden Path
Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for FLVCR1
- Top Transcription factor binding sites by QIAGEN in the FLVCR1 gene promoter:
-
- C/EBPalpha
- CBF-A
- CBF-B
- CP1A
- HOXA5
- NF-Y
- NF-YA
- PPAR-gamma1
- PPAR-gamma2
- RSRFC4
Genomic Locations for FLVCR1 Gene
Latest Assembly
- chr1:212,858,275-212,899,363
- (GRCh38/hg38)
- Size:
- 41,089 bases
- Orientation:
- Plus strand
Previous Assembly
- chr1:213,031,617-213,072,705
- (GRCh37/hg19 by Entrez Gene)
- Size:
- 41,089 bases
- Orientation:
- Plus strand
Genomic View for FLVCR1 Gene
Genes around FLVCR1 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 1q32.3 by HGNC
- 1q32.3 by Entrez Gene
- 1q32.3 by Ensembl
FLVCR1 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene 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
- Q1HE16
- Q86XY9
- Q9NVR9
Protein attributes for FLVCR1 Gene
- Size:
- 555 amino acids
- Molecular mass:
- 59863 Da
- Quaternary structure:
-
- Interacts with HPX.
- Miscellaneous:
-
- [Isoform 2]: Has a probable mitochondrial transit peptide at positions 1-38.
Protein Expression for FLVCR1 Gene
Post-translational modifications for FLVCR1 Gene
- N-Glycosylated.
-
Glycosylation at Asn265 and Asn273
- NX_Q9Y5Y0 (NX_Q9Y5Y0-1)
- Modification sites at PhosphoSitePlus
Other Protein References for FLVCR1 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibodies for research
- G Biosciences Immunotag™ FLVC1 Polyclonal Antibody
-
Custom Antibody ServicesOriGene Antibodies for FLVCR1
- Novus Biologicals Antibodies for FLVCR1
-
Abcam antibodies for FLVCR1
- Invitrogen Antibodies for FLVCR1 (AFLGC-FLVCR1)
-
Boster Bio Antibodies for FLVCR1
-
Custom Antibody ServicesProSci Antibodies for FLVCR1
-
Santa Cruz Biotechnology (SCBT) Antibodies for FLVCR1
- Sino Biological Antibodies for FLVCR1
Protein products for research
-
OriGene Purified Proteins for FLVCR1
- Search Origene for MassSpec and Protein Over-expression Lysates for FLVCR1
- Origene Custom Protein Services for FLVCR1
-
Abcam proteins for FLVCR1
Assay products for research
No data available for DME Specific Peptides for FLVCR1 Gene
Domains & Families for FLVCR1 Gene
Gene Families for FLVCR1 Gene
- HGNC:
- IUPHAR :
- Human Protein Atlas (HPA):
-
- Disease related genes
- Potential drug targets
- Predicted membrane proteins
- Transporters
Protein Domains for FLVCR1 Gene
- InterPro:
Suggested Antigen Peptide Sequences for FLVCR1 Gene
- GenScript: Design optimal peptide antigens:
-
- Feline leukemia virus subgroup C receptor-related protein 1 (FLVC1_HUMAN)
Graphical View of Domain Structure for InterPro Entry
Q9Y5Y0UniProtKB/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.
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 is required to maintain intracellular free heme balance, protecting cells from heme toxicity. Heme export provides protection from heme or ferrous iron toxicities in liver, brain, sensory neurons and during erythtopoiesis, a process in which heme synthesis intensifies. Causes susceptibility to FeLV-C in vitro.
- UniProtKB/Swiss-Prot Function:
- [Isoform 2]: Heme transporter that promotes heme efflux from the mitochondrion to the cytoplasm. Essential for erythroid differentiation.
Phenotypes From GWAS Catalog for FLVCR1 Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005515 | protein binding | IPI | 20610401 |
| GO:0015232 | heme transporter activity | IMP,TAS | -- |
| GO:0020037 | heme binding | IBA | 21873635 |
| GO:0022857 | transmembrane transporter activity | IEA | -- |
Phenotypes for FLVCR1 Gene
- MGI mutant phenotypes for FLVCR1:
-
inferred from 3 alleles
- normal phenotype
- homeostasis/metabolism phenotype
- growth/size/body region phenotype
- cardiovascular system phenotype
- immune system phenotype
- respiratory system phenotype
- mortality/aging
- renal/urinary system phenotype
- hematopoietic system phenotype
- reproductive system phenotype
- limbs/digits/tail phenotype
- skeleton phenotype
- integument phenotype
- craniofacial phenotype
- GenomeRNAi human phenotypes for FLVCR1:
Animal Models for FLVCR1 Gene
- MGI Knock Outs for FLVCR1:
-
- Flvcr1 Flvcr1<tm1.1Jlab>
Animal Models for research
-
Taconic Biosciences Mouse Models for FLVCR1
CRISPR products for research
- Applied Biological Materials (abm): CRISPR Clones for FLVCR1 - Starting at $85 >
- * FLVCR1 CRISPR as ready-to-use vector or virus: Non-viral | Lenti- | Adeno- | AAV- | siRNA - Browse All
- * Cas9 Nucleases, Nickases, Null Mutants, and GFP tag also available.
-
OriGene CRISPR knockouts for FLVCR1
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for FLVCR1
-
Santa Cruz Biotechnology (SCBT) CRISPR for FLVCR1
miRNA for FLVCR1 Gene
- miRTarBase miRNAs that target FLVCR1
-
- hsa-miR-192-5p (MIRT026120)
- hsa-miR-6867-5p (MIRT063013)
- hsa-miR-513a-3p (MIRT112717)
- hsa-miR-513c-3p (MIRT112719)
- hsa-miR-3606-3p (MIRT112720)
- hsa-miR-4803 (MIRT112722)
- hsa-miR-142-3p (MIRT184833)
- hsa-miR-302c-5p (MIRT184835)
- hsa-miR-567 (MIRT184850)
- hsa-miR-1262 (MIRT184852)
- hsa-miR-4296 (MIRT184853)
- hsa-miR-4322 (MIRT184854)
- hsa-miR-4265 (MIRT184855)
- hsa-miR-4701-3p (MIRT184856)
- hsa-miR-4781-3p (MIRT184858)
- hsa-miR-6736-5p (MIRT184860)
- hsa-miR-6748-5p (MIRT184861)
- hsa-miR-6759-5p (MIRT184862)
- hsa-miR-6796-5p (MIRT184863)
- hsa-miR-6869-5p (MIRT184864)
- hsa-miR-217 (MIRT270975)
- hsa-miR-4666b (MIRT270983)
- hsa-miR-6807-3p (MIRT270984)
- hsa-miR-8055 (MIRT271002)
- hsa-miR-548n (MIRT335890)
- hsa-miR-3613-5p (MIRT394859)
- hsa-miR-6793-5p (MIRT493857)
- hsa-miR-3121-5p (MIRT493858)
- hsa-miR-888-5p (MIRT493859)
- hsa-miR-3672 (MIRT544340)
- hsa-miR-6864-3p (MIRT544341)
- hsa-miR-4524a-3p (MIRT544342)
- hsa-miR-8081 (MIRT563599)
- hsa-miR-627-5p (MIRT563600)
- hsa-miR-937-5p (MIRT563601)
- hsa-miR-3143 (MIRT563602)
- hsa-miR-924 (MIRT563603)
- hsa-miR-4766-5p (MIRT563604)
- hsa-miR-574-5p (MIRT569429)
- hsa-miR-147a (MIRT569430)
- hsa-miR-6818-5p (MIRT569431)
- hsa-miR-297 (MIRT569432)
- hsa-miR-3924 (MIRT569433)
- hsa-miR-411-5p (MIRT569434)
- hsa-miR-223-5p (MIRT569435)
- hsa-miR-4439 (MIRT574760)
- hsa-miR-943 (MIRT574761)
- hsa-miR-3136-5p (MIRT574762)
- hsa-miR-3152-3p (MIRT574763)
- hsa-miR-5002-3p (MIRT574764)
- hsa-miR-3651 (MIRT574765)
- hsa-miR-8054 (MIRT574766)
- hsa-miR-548k (MIRT574767)
- hsa-miR-548av-5p (MIRT574768)
- hsa-miR-203b-3p (MIRT646143)
- hsa-miR-7158-3p (MIRT646144)
- hsa-miR-378a-5p (MIRT646145)
- hsa-miR-6821-3p (MIRT646146)
- hsa-miR-6790-3p (MIRT646147)
- hsa-miR-4680-5p (MIRT646148)
- hsa-miR-4635 (MIRT646149)
- hsa-miR-3653-5p (MIRT646150)
- hsa-miR-3934-5p (MIRT646151)
- hsa-miR-764 (MIRT646152)
- hsa-miR-125a-3p (MIRT646153)
- hsa-miR-3157-5p (MIRT663152)
- hsa-miR-640 (MIRT671794)
- hsa-miR-6131 (MIRT679200)
- hsa-miR-3663-5p (MIRT679201)
- hsa-miR-5581-5p (MIRT710192)
- hsa-miR-4297 (MIRT710193)
- hsa-miR-3137 (MIRT710194)
- hsa-miR-6880-3p (MIRT710195)
- hsa-miR-4485-5p (MIRT710196)
- hsa-miR-4692 (MIRT710197)
- hsa-miR-4514 (MIRT710198)
- hsa-miR-6715b-5p (MIRT710199)
- hsa-miR-4269 (MIRT710200)
- hsa-miR-4742-5p (MIRT710201)
- hsa-miR-6877-3p (MIRT710202)
- hsa-miR-6819-3p (MIRT710203)
- hsa-miR-1183 (MIRT710204)
- hsa-miR-1273f (MIRT783299)
- hsa-miR-193b-5p (MIRT784049)
- hsa-miR-3170 (MIRT784729)
- hsa-miR-6832-5p (MIRT788999)
- hsa-miR-6855-5p (MIRT789089)
- hsa-miR-6890-5p (MIRT789347)
miRNA products for research
Inhibitory RNAs for research
- Origene shrna, sirna, and RNAi products in human, mouse, rat for FLVCR1
- Browse OriGene Inhibitory RNA Products For FLVCR1
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for FLVCR1
Clone products for research
- Applied Biological Materials (abm): Clones for FLVCR1 - Starting at $45 >
- * FLVCR1 as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Retro- | Protein Vector - Browse All
- * Viral Packaging Services and High Titer Production Services also available.
- Sino Biological Human cDNA Clone for FLVCR1
- Addgene plasmids for FLVCR1
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for FLVCR1
Cell Lines for research
-
Horizon Cell Lines for FLVCR1
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.
| Compartment | Confidence |
|---|---|
| plasma membrane | 5 |
| mitochondrion | 5 |
| endosome | 2 |
| cytosol | 2 |
| lysosome | 2 |
| extracellular | 1 |
| cytoskeleton | 1 |
| peroxisome | 1 |
| nucleus | 1 |
| endoplasmic reticulum | 1 |
| golgi apparatus | 1 |
- Cell Junctions (2)
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005739 | mitochondrion | IDA | 23187127 |
| GO:0005886 | plasma membrane | TAS | -- |
| GO:0016020 | membrane | IEA | -- |
| GO:0016021 | integral component of membrane | IEA | -- |
| GO:0031966 | mitochondrial membrane | IEA | -- |
Pathways & Interactions for FLVCR1 Gene
Pathways by source for FLVCR1 Gene
2 Reactome pathways for FLVCR1 Gene
Interacting Proteins for FLVCR1 Gene
GPS-Prot Interaction Network for FLVCR1
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0001568 | blood vessel development | IEA | -- |
| GO:0001701 | in utero embryonic development | IEA | -- |
| GO:0006839 | mitochondrial transport | IDA | 23187127 |
| GO:0006879 | cellular iron ion homeostasis | TAS | -- |
| GO:0015886 | heme transport | IMP | 23187127 |
No data available for SIGNOR curated interactions for FLVCR1 Gene
Drugs & Compounds for FLVCR1 Gene
| Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
|---|---|---|---|---|---|---|
| heme | Pharma | 0 |
Transcripts for FLVCR1 Gene
mRNA/cDNA for FLVCR1 Gene
- 1 REFSEQ mRNAs :
- 8 NCBI additional mRNA sequence :
- 5 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :
-
- ENST00000366971 5919 nts (view in UCSC)
- ENST00000419102 1108 nts (view in UCSC)
- ENST00000474693 590 nts (view in UCSC)
- ENST00000483790 599 nts (view in UCSC)
- ENST00000579295 479 nts (view in UCSC)
CRISPR products for research
- Applied Biological Materials (abm): CRISPR Clones for FLVCR1 - Starting at $85 >
- * FLVCR1 CRISPR as ready-to-use vector or virus: Non-viral | Lenti- | Adeno- | AAV- | siRNA - Browse All
- * Cas9 Nucleases, Nickases, Null Mutants, and GFP tag also available.
-
OriGene CRISPR knockouts for FLVCR1
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for FLVCR1
-
Santa Cruz Biotechnology (SCBT) CRISPR for FLVCR1
miRNA products for research
Inhibitory RNAs for research
- Origene shrna, sirna, and RNAi products in human, mouse, rat for FLVCR1
- Browse OriGene Inhibitory RNA Products For FLVCR1
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for FLVCR1
Clone products for research
- Applied Biological Materials (abm): Clones for FLVCR1 - Starting at $45 >
- * FLVCR1 as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Retro- | Protein Vector - Browse All
- * Viral Packaging Services and High Titer Production Services also available.
- Sino Biological Human cDNA Clone for FLVCR1
- Addgene plasmids for FLVCR1
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for FLVCR1
| 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
Expression 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
- Elite partner
Transcriptomic regulation report from SPP (The Signaling Pathways Project) for FLVCR1
SOURCE GeneReport for Unigene cluster for FLVCR1 Gene:
Hs.7055mRNA 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.
Evidence on tissue expression from TISSUES for FLVCR1 Gene
- Intestine(4.4)
- Blood(4.3)
- Nervous system(3.3)
- Kidney(2)
Phenotype-based relationships between genes and organs from Gene ORGANizer for FLVCR1 Gene
Germ Layers:
- ectoderm
- endoderm
- mesoderm
Systems:
- digestive
- immune
- nervous
- respiratory
- skeletal muscle
- skeleton
- urinary
Regions:
Head and neck:
- brain
- cranial nerve
- eye
- head
Thorax:
- esophagus
- lung
- rib
- rib cage
Abdomen:
- kidney
Pelvis:
- pelvis
- prostate
- ureter
- urethra
- urinary bladder
Limb:
- arm
- digit
- finger
- forearm
- hand
- lower limb
- shin
- thigh
- upper limb
General:
- blood
- peripheral nerve
- peripheral nervous system
- spinal column
- spinal cord
- vertebrae
- white blood cell
Primer products for research
-
OriGene qPCR primer pairs for FLVCR1
-
OriGene qPCR primer pairs and template standards for FLVCR1
Gene Expression Assays for research
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.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| Chimpanzee (Pan troglodytes) |
Mammalia | FLVCR1 29 30 |
|
OneToOne | |
| Dog (Canis familiaris) |
Mammalia | FLVCR1 29 30 |
|
OneToOne | |
| Cow (Bos Taurus) |
Mammalia | FLVCR1 29 30 |
|
OneToOne | |
| Mouse (Mus musculus) |
Mammalia | Mfsd7b 29 30 |
|
OneToOne | |
| Flvcr1 16 |
|
||||
| Oppossum (Monodelphis domestica) |
Mammalia | FLVCR1 30 |
|
OneToOne | |
| Platypus (Ornithorhynchus anatinus) |
Mammalia | FLVCR1 30 |
|
OneToOne | |
| Chicken (Gallus gallus) |
Aves | FLVCR1 29 30 |
|
OneToOne | |
| Lizard (Anolis carolinensis) |
Reptilia | FLVCR1 30 |
|
OneToOne | |
| Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | flvcr1 29 |
|
||
| Zebrafish (Danio rerio) |
Actinopterygii | flvcr1 29 30 |
|
OneToOne | |
| Rainbow Trout (Oncorhynchus mykiss) |
Actinopterygii | Omy.1424 29 |
|
||
| Fruit Fly (Drosophila melanogaster) |
Insecta | CG1358 30 |
|
OneToMany | |
| Worm (Caenorhabditis elegans) |
Secernentea | C09D4.1 30 |
|
OneToMany | |
| Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 30 |
|
ManyToMany | |
| -- 30 |
|
ManyToMany | |||
| -- 30 |
|
ManyToMany | |||
| -- 30 |
|
ManyToMany |
- Species where no ortholog for FLVCR1 was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Eremothecium 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 Vase (Ciona intestinalis)
- 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)
- Aminode:
- Evolutionary constrained regions (ECRs) for FLVCR1: view image
- Alliance of Genome Resources:
- Additional Orthologs for FLVCR1
Paralogs for FLVCR1 Gene
Variants for FLVCR1 Gene
Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for FLVCR1 Gene
| SNP ID | Clinical significance and condition | Chr 01 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| 1003452 | Uncertain Significance: not provided | 212,858,564(+) |
C/G NM_014053.4(FLVCR1):c.112C>G (p.Leu38Val) |
MISSENSE | |
| 1004724 | Uncertain Significance: not provided | 212,858,814(+) |
A/G NM_014053.4(FLVCR1):c.362A>G (p.Asn121Ser) |
MISSENSE | |
| 1005772 | Uncertain Significance: not provided | 212,889,189(+) |
C/T NM_014053.4(FLVCR1):c.1457C>T (p.Ser486Leu) |
MISSENSE | |
| 1006567 | Uncertain Significance: not provided | 212,858,630(+) |
G/T NM_014053.4(FLVCR1):c.178G>T (p.Ala60Ser) |
MISSENSE | |
| 1006602 | Uncertain Significance: not provided | 212,887,894(+) |
G/T NM_014053.4(FLVCR1):c.1200G>T (p.Gln400His) |
MISSENSE |
All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).
| Variant ID | Type | Subtype | PubMed ID |
|---|---|---|---|
| dgv571n100 | CNV | gain | 25217958 |
| dgv572n100 | CNV | gain | 25217958 |
| dgv99n67 | CNV | loss | 20364138 |
| esv1413001 | CNV | deletion | 17803354 |
| esv2674192 | CNV | deletion | 23128226 |
| esv2722517 | CNV | deletion | 23290073 |
| esv3546221 | CNV | deletion | 23714750 |
| esv3588758 | CNV | loss | 21293372 |
| nsv1007129 | CNV | gain | 25217958 |
| nsv1008383 | CNV | gain | 25217958 |
| nsv1135755 | CNV | deletion | 24896259 |
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)
Additional Variant Information for FLVCR1 Gene
SNP Genotyping and Copy Number Assays for research
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for FLVCR1 Gene
Disorders for FLVCR1 Gene
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| posterior column ataxia with retinitis pigmentosa |
|
|
| retinitis pigmentosa |
|
|
| cone-rod dystrophy 2 |
|
|
| fundus dystrophy |
|
|
| posterior column ataxia |
|
|
Search FLVCR1 in MalaCards
View complete list of genes associated with diseases
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 variants 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.
- Note=Defects in FLVCR1 are a cause of a sensory neuropathy resulting in pain insensitivity. Patients have decreased sensing of pain, temperature and touch. Self-injury, ulcers and amputations are commonly observed in affected individuals. {ECO:0000269 PubMed:27923065}.
Additional Disease Information for FLVCR1
- Atlas
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
- Open Targets Platform
- Open Targets Platform
No data available for Genatlas for FLVCR1 Gene
Publications for FLVCR1 Gene
- Mutations in FLVCR1 cause posterior column ataxia and retinitis pigmentosa. (PMID: 21070897) Rajadhyaksha AM … Higgins JJ (American journal of human genetics 2010) 2 3 4 72
- A putative cell surface receptor for anemia-inducing feline leukemia virus subgroup C is a member of a transporter superfamily. (PMID: 10400745) Tailor CS … Kabat D (Journal of virology 1999) 2 3 4 22
- 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 72
- 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 JG (Gene 2002) 3 4 22
- Mutations in the Heme Exporter FLVCR1 Cause Sensory Neurodegeneration with Loss of Pain Perception. (PMID: 27923065) Chiabrando D … Kurth I (PLoS genetics 2016) 3 4
ExternalLinks
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Sources for FLVCR1 Gene
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