SLCtables

SLC49A1

Protein name: FLVCR1 Aliases: FLVCR, MFSD7B, AXPC1, PCARP Substrates: heme Transport type: unknown Tissue and cellular expression: ubiquitous, high expression in intestine, liver, kidney, brain, bone marrow Subcellular expression: located on the plasma membrane Disease: posterior column ataxia, retinitis pigmentosa (PCARP) syndrome, Diamond-Blackfan anemia (DBA) Locus: 1q32.3 Sequence ID: NP_054772.1, NM_014053.3 Gene ID: 28982 Splice variants: 4 splice variants observed in DBA, lacking exon 2 or 3 ? exon 6, an additional splice variant lacking exon 6 seen in both control and DBA erythroid cells

FLVC1_HUMAN (UniProt)

Gene names: FLVCR1, FLVCR
Protein names and data: FLVC1_HUMAN, Full=Feline leukemia virus subgroup C receptor-related protein 1;Short=Feline leukemia virus subgroup C receptor;Short=hFLVCR; Length: 555 a.a., Mass: 59863 Da,
fasta formatted sequence
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
Disease: (OMIM: 609033 609144) 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
Cellular location: Cell membrane; Multi-pass membrane protein (By similarity)
Tissue specificity: Found all hematopoietic tissues including peripheral blood lymphocytes. Some expression is found in pancreas and kidney

Database cross-references

UniProt: Q9Y5Y0
NextBio: 51873
OMIM: 609033 609144
Ensembl: ENST00000366971
GeneCard: GC01P212858
TCDB: 2.A.1.28.1
Guide to Pharmacology: SLC49A1 (1910)
SLC49 family of FLVCR-related heme transporters (1910)
HGNC: HGNC:24682

Genetic variants

See also Ensembl:ENST00000366971

52 - 52 A -> P (in dbSNP:rs11120047). VAR_050297 11120047
121 - 121 N -> D (in PCARP). VAR_065158
192 - 192 C -> R (in PCARP). VAR_065159
241 - 241 A -> T (in PCARP). VAR_065160
493 - 493 G -> R (in PCARP). VAR_065161
544 - 544 T -> M (in dbSNP:rs3207090). VAR_050298 3207090