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FLASH GENE

Symbol

FLVCR1

contributors: mct/npt/pgu - updated : 10-03-2010

HGNC name	feline leukemia virus subgroup C cellular receptor 1
HGNC id	24682

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

EXPRESSION

Type

widely

expressed in	(based on citations)
organ(s)	System Organ level 1 Organ level 2 Organ level 3 Organ level 4 Level Pubmed Species Stage Rna symbol Digestive intestine small intestine     highly Endocrine neuroendocrine pituitary     highly

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Connective adipose     highly

cell lineage	multiple hematopoietic lineages
cell lines
fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES		Hydrophobic
STRUCTURE

motifs/domains	twelve membrane spanning domains
	one CRIB domain
	one WH1 domain
	two WH2 domains
	six presumptive extracellular loops (ECLs 1 and 6 as critical for mediating FeLV-C infection)

HOMOLOGY

interspecies

homolog to feline Lvcr

intraspecies

homolog to FLVCR2 (52 p100)

Homologene

FAMILY	major facilitator superfamily
	feline leukemia virus subgroup C receptor family

CATEGORY

transport carrier

SUBCELLULAR LOCALIZATION

plasma membrane

basic FUNCTION	regulating actin polymerization by stimulating the actin- nucleating activity of the actin-related protein ACTR2/ACTR3 complex
	exporting cytoplasmic heme and may be required on developing erythroid cells to protect them from heme toxicity
	critical role for early erythropoiesis
	mediates heme export from macrophages that ingest senescent red cells and regulates hepatic iron

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

INTERACTION

DNA

RNA

small molecule

protein

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

AXPC1

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function constitutional       loss of function enhanced alternative splicing of FLVCR1 transcripts and subsequent FLVCR1 insufficiency is an additional contributing factor to the erythropoietic defect observed in Diamond-Blackfan anemia

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS

FLVCR1 null mice, despite dying in utero and having reduced myeloid and lymphoid cell growth, show a disruption in early erythropoiesis and have craniofacial and limb deformities similar to those found in some Diamond-Blackfan anemia patient