InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: FLVCR1

Summary

InnateDB Protein

IDBP-106599.6

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

FLVCR1

Protein Name

feline leukemia virus subgroup C cellular receptor 1

Synonyms

Species

Homo sapiens

Ensembl Protein

ENSP00000355938

InnateDB Gene

IDBG-106597 (FLVCR1)

Protein Structure

UniProt Annotation

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 it's accumulation is toxic for cells.Isoform 2: Heme transporter that promotes heme efflux from the mitochondrion to the cytoplasm. Essential for erythroid differentiation.

Subcellular Localization

Isoform 1: Cell membrane {ECO:0000250}; Multi-pass membrane protein {ECO:0000250}.Isoform 2: Mitochondrion membrane {ECO:0000250}; Multi-pass membrane protein {ECO:0000250}.

Disease Associations

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:0000269PubMed:21070897, ECO:0000269PubMed: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.

Tissue Specificity

Found all hematopoietic tissues including peripheral blood lymphocytes. Some expression is found in pancreas and kidney. {ECO:0000269PubMed:10400745}.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 2 experimentally validated interaction(s) in this database.

Experimentally validated
Total	2 [view]
Protein-Protein	2 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Gene Ontology

Molecular Function

Accession	GO Term
GO:0005215	transporter activity
GO:0005515	protein binding
GO:0015232	heme transporter activity

Biological Process

GO:0001568	blood vessel development
GO:0001701	in utero embryonic development
GO:0006810	transport
GO:0006839	mitochondrial transport
GO:0006879	cellular iron ion homeostasis
GO:0007275	multicellular organismal development
GO:0008219	cell death
GO:0015886	heme transport
GO:0030218	erythrocyte differentiation
GO:0035108	limb morphogenesis
GO:0035264	multicellular organism growth
GO:0042733	embryonic digit morphogenesis
GO:0043249	erythrocyte maturation
GO:0046620	regulation of organ growth
GO:0048536	spleen development
GO:0048704	embryonic skeletal system morphogenesis
GO:0055085	transmembrane transport
GO:0060323	head morphogenesis
GO:0097037	heme export

Cellular Component

GO:0005739	mitochondrion
GO:0005886	plasma membrane
GO:0005887	integral component of plasma membrane
GO:0016021	integral component of membrane
GO:0031966	mitochondrial membrane

Protein Structure and Domains

PDB ID

InterPro

IPR011701 Major facilitator superfamily
IPR016196 Major facilitator superfamily domain, general substrate transporter
IPR020846 Major facilitator superfamily domain

PFAM

PF07690

PRINTS

PIRSF

SMART

TIGRFAMs

Post-translational Modifications

Modification

Cross-References

SwissProt

Q9Y5Y0

PhosphoSite