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UniProtKB - Q9Y5Y0 (FLVC1_HUMAN)

Protein

Feline leukemia virus subgroup C receptor-related protein 1

Gene

FLVCR1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

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.4 Publications
Isoform 2: Heme transporter that promotes heme efflux from the mitochondrion to the cytoplasm. Essential for erythroid differentiation.

GO - Molecular functioni

  • heme binding Source: GO_Central
  • heme transporter activity Source: UniProtKB
  • transporter activity Source: ProtInc
View the complete GO annotation on QuickGO ...

GO - Biological processi

View the complete GO annotation on QuickGO ...

Keywordsi

Molecular functionReceptor
Biological processErythrocyte maturation, Transport

Enzyme and pathway databases

ReactomeiR-HSA-917937 Iron uptake and transport

Protein family/group databases

TCDBi2.A.1.28.1 the major facilitator superfamily (mfs)

Names & Taxonomyi

Protein namesi
Recommended name:
Feline leukemia virus subgroup C receptor-related protein 1
Short name:
Feline leukemia virus subgroup C receptor
Short name:
hFLVCR
Gene namesi
Name:FLVCR1
Synonyms:FLVCR
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
Proteomesi
  • UP000005640 Componenti: Chromosome 1

Organism-specific databases

EuPathDBiHostDB:ENSG00000162769.12
HGNCiHGNC:24682 FLVCR1
MIMi609144 gene
neXtProtiNX_Q9Y5Y0

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Topological domaini1 – 107CytoplasmicSequence analysisAdd BLAST107
Transmembranei108 – 128HelicalSequence analysisAdd BLAST21
Topological domaini129 – 147ExtracellularSequence analysisAdd BLAST19
Transmembranei148 – 168HelicalSequence analysisAdd BLAST21
Topological domaini169 – 174CytoplasmicSequence analysis6
Transmembranei175 – 195HelicalSequence analysisAdd BLAST21
Topological domaini196 – 199ExtracellularSequence analysis4
Transmembranei200 – 220HelicalSequence analysisAdd BLAST21
Topological domaini221 – 240CytoplasmicSequence analysisAdd BLAST20
Transmembranei241 – 261HelicalSequence analysisAdd BLAST21
Topological domaini262 – 275ExtracellularSequence analysisAdd BLAST14
Transmembranei276 – 296HelicalSequence analysisAdd BLAST21
Topological domaini297 – 331CytoplasmicSequence analysisAdd BLAST35
Transmembranei332 – 352HelicalSequence analysisAdd BLAST21
Topological domaini353 – 372ExtracellularSequence analysisAdd BLAST20
Transmembranei373 – 393HelicalSequence analysisAdd BLAST21
Topological domaini394 – 401CytoplasmicSequence analysis8
Transmembranei402 – 422HelicalSequence analysisAdd BLAST21
Topological domaini423 – 424ExtracellularSequence analysis2
Transmembranei425 – 445HelicalSequence analysisAdd BLAST21
Topological domaini446 – 459CytoplasmicSequence analysisAdd BLAST14
Transmembranei460 – 480HelicalSequence analysisAdd BLAST21
Topological domaini481 – 490ExtracellularSequence analysis10
Transmembranei491 – 511HelicalSequence analysisAdd BLAST21
Topological domaini512 – 555CytoplasmicSequence analysisAdd BLAST44

Keywords - Cellular componenti

Cell membrane, Membrane, Mitochondrion

Pathology & Biotechi

Involvement in diseasei

Posterior column ataxia with retinitis pigmentosa (PCARP)2 Publications
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.
Disease descriptionA 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.
See also OMIM:609033
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_065158121N → D in PCARP. 1 PublicationCorresponds to variant dbSNP:rs267606820EnsemblClinVar.1
Natural variantiVAR_065159192C → R in PCARP; also found in a patient with sensory neuropathy and pain insensitivity. 2 PublicationsCorresponds to variant dbSNP:rs267606821EnsemblClinVar.1
Natural variantiVAR_065160241A → T in PCARP. 1 PublicationCorresponds to variant dbSNP:rs267606819EnsemblClinVar.1
Natural variantiVAR_065161493G → R in PCARP. 1 Publication1
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.1 Publication

Keywords - Diseasei

Disease mutation, Neurodegeneration, Neuropathy, Retinitis pigmentosa

Organism-specific databases

DisGeNETi28982
MalaCardsiFLVCR1
MIMi609033 phenotype
OpenTargetsiENSG00000162769
Orphaneti88628 Posterior column ataxia-retinitis pigmentosa syndrome
PharmGKBiPA162388695

Polymorphism and mutation databases

BioMutaiFLVCR1
DMDMi46396053

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000848441 – 555Feline leukemia virus subgroup C receptor-related protein 1Add BLAST555

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei56PhosphoserineCombined sources1
Glycosylationi265N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi273N-linked (GlcNAc...) asparagineSequence analysis1
Modified residuei536PhosphoserineCombined sources1

Post-translational modificationi

N-Glycosylated.1 Publication

Keywords - PTMi

Glycoprotein, Phosphoprotein

Proteomic databases

EPDiQ9Y5Y0
PaxDbiQ9Y5Y0
PeptideAtlasiQ9Y5Y0
PRIDEiQ9Y5Y0
ProteomicsDBi86537

PTM databases

iPTMnetiQ9Y5Y0
PhosphoSitePlusiQ9Y5Y0

Expressioni

Tissue specificityi

Found all hematopoietic tissues including peripheral blood lymphocytes. Some expression is found in pancreas and kidney.1 Publication

Developmental stagei

Down-regulated in haemopoietic progenitor cells undergoing differentiation and hemoglobinization. Abundant in fetal liver.1 Publication

Gene expression databases

BgeeiENSG00000162769 Expressed in 189 organ(s), highest expression level in jejunal mucosa
CleanExiHS_FLVCR1
ExpressionAtlasiQ9Y5Y0 baseline and differential
GenevisibleiQ9Y5Y0 HS

Organism-specific databases

HPAiHPA046646

Interactioni

Subunit structurei

Interacts with HPX.1 Publication

Protein-protein interaction databases

BioGridi118803, 35 interactors
IntActiQ9Y5Y0, 2 interactors
STRINGi9606.ENSP00000355938

Structurei

3D structure databases

ProteinModelPortaliQ9Y5Y0
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Belongs to the major facilitator superfamily. Feline leukemia virus subgroup C receptor (TC 2.A.1.28.1) family. [View classification]Curated

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiKOG2563 Eukaryota
ENOG410XSTK LUCA
GeneTreeiENSGT00530000062892
HOGENOMiHOG000019717
HOVERGENiHBG051631
InParanoidiQ9Y5Y0
KOiK08220
OMAiYVSFIGQ
OrthoDBiEOG091G0FJM
PhylomeDBiQ9Y5Y0
TreeFamiTF314292

Family and domain databases

CDDicd06174 MFS, 1 hit
InterProiView protein in InterPro
IPR011701 MFS
IPR020846 MFS_dom
IPR036259 MFS_trans_sf
PfamiView protein in Pfam
PF07690 MFS_1, 1 hit
SUPFAMiSSF103473 SSF103473, 1 hit
PROSITEiView protein in PROSITE
PS50850 MFS, 1 hit

Sequences (2+)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 2 described isoforms and 1 potential isoform that is computationally mapped.Show allAlign All

Isoform 1 (identifier: Q9Y5Y0-1) [UniParc]FASTAAdd to basket
Also known as: FLVC1a

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide
        10         20         30         40         50
MARPDDEEGA AVAPGHPLAK GYLPLPRGAP VGKESVELQN GPKAGTFPVN 
        60         70         80         90        100
GAPRDSLAAA SGVLGGPQTP LAPEEETQAR LLPAGAGAET PGAESSPLPL 
       110        120        130        140        150
TALSPRRFVV LLIFSLYSLV NAFQWIQYSI ISNVFEGFYG VTLLHIDWLS 
       160        170        180        190        200
MVYMLAYVPL IFPATWLLDT RGLRLTALLG SGLNCLGAWI KCGSVQQHLF 
       210        220        230        240        250
WVTMLGQCLC SVAQVFILGL PSRIASVWFG PKEVSTACAT AVLGNQLGTA 
       260        270        280        290        300
VGFLLPPVLV PNTQNDTNLL ACNISTMFYG TSAVATLLFI LTAIAFKEKP 
       310        320        330        340        350
RYPPSQAQAA LQDSPPEEYS YKKSIRNLFK NIPFVLLLIT YGIMTGAFYS 
       360        370        380        390        400
VSTLLNQMIL TYYEGEEVNA GRIGLTLVVA GMVGSILCGL WLDYTKTYKQ 
       410        420        430        440        450
TTLIVYILSF IGMVIFTFTL DLRYIIIVFV TGGVLGFFMT GYLPLGFEFA 
       460        470        480        490        500
VEITYPESEG TSSGLLNASA QIFGILFTLA QGKLTSDYGP KAGNIFLCVW 
       510        520        530        540        550
MFIGIILTAL IKSDLRRHNI NIGITNVDVK AIPADSPTDQ EPKTVMLSKQ 

SESAI
Length:555
Mass (Da):59,863
Last modified:November 1, 1999 - v1
Checksum:iD0EBA9886CC8E747
GO
Isoform 2 (identifier: Q9Y5Y0-2) [UniParc]FASTAAdd to basket
Also known as: FLVC1b, mitochondrial

The sequence of this isoform differs from the canonical sequence as follows:
     1-276: Missing.

Note: Has a probable mitochondrial transit peptide at positions 1-38.
Show »
Length:279
Mass (Da):30,744
Checksum:iFA59C9CBEE5CE3CA
GO

Computationally mapped potential isoform sequencesi

There is 1 potential isoform mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
H7C3Z2H7C3Z2_HUMAN
Feline leukemia virus subgroup C re...
FLVCR1
354Annotation score:

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_05029752A → P1 PublicationCorresponds to variant dbSNP:rs11120047EnsemblClinVar.1
Natural variantiVAR_065158121N → D in PCARP. 1 PublicationCorresponds to variant dbSNP:rs267606820EnsemblClinVar.1
Natural variantiVAR_065159192C → R in PCARP; also found in a patient with sensory neuropathy and pain insensitivity. 2 PublicationsCorresponds to variant dbSNP:rs267606821EnsemblClinVar.1
Natural variantiVAR_077884221P → S Probable disease-associated mutation found in a patient with sensory neuropathy and pain insensitivity. 1 PublicationCorresponds to variant dbSNP:rs753000469Ensembl.1
Natural variantiVAR_065160241A → T in PCARP. 1 PublicationCorresponds to variant dbSNP:rs267606819EnsemblClinVar.1
Natural variantiVAR_065161493G → R in PCARP. 1 Publication1
Natural variantiVAR_050298544T → M1 PublicationCorresponds to variant dbSNP:rs3207090EnsemblClinVar.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0478661 – 276Missing in isoform 2. 2 PublicationsAdd BLAST276

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF118637 mRNA Translation: AAD45243.1
AK001419 mRNA Translation: BAA91679.1
DQ496107 Genomic DNA Translation: ABF47096.1
CH471100 Genomic DNA Translation: EAW93374.1
BC048312 mRNA Translation: AAH48312.1
CCDSiCCDS1510.1 [Q9Y5Y0-1]
RefSeqiNP_054772.1, NM_014053.3 [Q9Y5Y0-1]
UniGeneiHs.7055

Genome annotation databases

EnsembliENST00000366971; ENSP00000355938; ENSG00000162769 [Q9Y5Y0-1]
GeneIDi28982
KEGGihsa:28982
UCSCiuc001hjt.3 human [Q9Y5Y0-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF118637 mRNA Translation: AAD45243.1
AK001419 mRNA Translation: BAA91679.1
DQ496107 Genomic DNA Translation: ABF47096.1
CH471100 Genomic DNA Translation: EAW93374.1
BC048312 mRNA Translation: AAH48312.1
CCDSiCCDS1510.1 [Q9Y5Y0-1]
RefSeqiNP_054772.1, NM_014053.3 [Q9Y5Y0-1]
UniGeneiHs.7055

3D structure databases

ProteinModelPortaliQ9Y5Y0
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi118803, 35 interactors
IntActiQ9Y5Y0, 2 interactors
STRINGi9606.ENSP00000355938

Protein family/group databases

TCDBi2.A.1.28.1 the major facilitator superfamily (mfs)

PTM databases

iPTMnetiQ9Y5Y0
PhosphoSitePlusiQ9Y5Y0

Polymorphism and mutation databases

BioMutaiFLVCR1
DMDMi46396053

Proteomic databases

EPDiQ9Y5Y0
PaxDbiQ9Y5Y0
PeptideAtlasiQ9Y5Y0
PRIDEiQ9Y5Y0
ProteomicsDBi86537

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000366971; ENSP00000355938; ENSG00000162769 [Q9Y5Y0-1]
GeneIDi28982
KEGGihsa:28982
UCSCiuc001hjt.3 human [Q9Y5Y0-1]

Organism-specific databases

CTDi28982
DisGeNETi28982
EuPathDBiHostDB:ENSG00000162769.12
GeneCardsiFLVCR1
HGNCiHGNC:24682 FLVCR1
HPAiHPA046646
MalaCardsiFLVCR1
MIMi609033 phenotype
609144 gene
neXtProtiNX_Q9Y5Y0
OpenTargetsiENSG00000162769
Orphaneti88628 Posterior column ataxia-retinitis pigmentosa syndrome
PharmGKBiPA162388695
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG2563 Eukaryota
ENOG410XSTK LUCA
GeneTreeiENSGT00530000062892
HOGENOMiHOG000019717
HOVERGENiHBG051631
InParanoidiQ9Y5Y0
KOiK08220
OMAiYVSFIGQ
OrthoDBiEOG091G0FJM
PhylomeDBiQ9Y5Y0
TreeFamiTF314292

Enzyme and pathway databases

ReactomeiR-HSA-917937 Iron uptake and transport

Miscellaneous databases

ChiTaRSiFLVCR1 human
GeneWikiiFLVCR1
GenomeRNAii28982
PROiPR:Q9Y5Y0
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000162769 Expressed in 189 organ(s), highest expression level in jejunal mucosa
CleanExiHS_FLVCR1
ExpressionAtlasiQ9Y5Y0 baseline and differential
GenevisibleiQ9Y5Y0 HS

Family and domain databases

CDDicd06174 MFS, 1 hit
InterProiView protein in InterPro
IPR011701 MFS
IPR020846 MFS_dom
IPR036259 MFS_trans_sf
PfamiView protein in Pfam
PF07690 MFS_1, 1 hit
SUPFAMiSSF103473 SSF103473, 1 hit
PROSITEiView protein in PROSITE
PS50850 MFS, 1 hit
ProtoNetiSearch...

Entry informationi

Entry nameiFLVC1_HUMAN
AccessioniPrimary (citable) accession number: Q9Y5Y0
Secondary accession number(s): Q1HE16, Q86XY9, Q9NVR9
Entry historyiIntegrated into UniProtKB/Swiss-Prot: April 13, 2004
Last sequence update: November 1, 1999
Last modified: November 7, 2018
This is version 134 of the entry and version 1 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. SIMILARITY comments
    Index of protein domains and families
  2. Human chromosome 1
    Human chromosome 1: entries, gene names and cross-references to MIM
  3. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  4. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  5. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
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