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Protein

Feline leukemia virus subgroup C receptor-related protein 2

Gene

FLVCR2

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

Functioni

Acts as an importer of heme. Also acts as a transporter for a calcium-chelator complex, important for growth and calcium metabolism.1 Publication

GO - Molecular functioni

  • heme binding Source: UniProtKB
  • heme transporter activity Source: UniProtKB

GO - Biological processi

  • heme export Source: GO_Central

Keywordsi

Biological processTransport

Protein family/group databases

TCDBi2.A.1.28.4 the major facilitator superfamily (mfs)

Names & Taxonomyi

Protein namesi
Recommended name:
Feline leukemia virus subgroup C receptor-related protein 2
Alternative name(s):
Calcium-chelate transporter
Short name:
CCT
Gene namesi
Name:FLVCR2
Synonyms:C14orf58
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 14

Organism-specific databases

EuPathDBiHostDB:ENSG00000119686.9
HGNCiHGNC:20105 FLVCR2
MIMi610865 gene
neXtProtiNX_Q9UPI3

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
Transmembranei103 – 123HelicalSequence analysisAdd BLAST21
Transmembranei125 – 145HelicalSequence analysisAdd BLAST21
Transmembranei152 – 172HelicalSequence analysisAdd BLAST21
Transmembranei176 – 196HelicalSequence analysisAdd BLAST21
Transmembranei217 – 237HelicalSequence analysisAdd BLAST21
Transmembranei252 – 272HelicalSequence analysisAdd BLAST21
Transmembranei310 – 330HelicalSequence analysisAdd BLAST21
Transmembranei349 – 369HelicalSequence analysisAdd BLAST21
Transmembranei386 – 406HelicalSequence analysisAdd BLAST21
Transmembranei407 – 427HelicalSequence analysisAdd BLAST21
Transmembranei436 – 456HelicalSequence analysisAdd BLAST21
Transmembranei471 – 491HelicalSequence analysisAdd BLAST21

Keywords - Cellular componenti

Cell membrane, Membrane

Pathology & Biotechi

Involvement in diseasei

Proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome (PVHH)3 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA rare prenatally lethal disorder characterized by hydranencephaly, a distinctive glomerular vasculopathy in the central nervous system and retina, and diffuse ischemic lesions of the brain stem, basal ganglia, and spinal cord with calcifications. Hydranencephaly is a condition where the greater portions of the cerebral hemispheres and corpus striatum are replaced by cerebrospinal fluid and glial tissue.
See also OMIM:225790
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_06441084R → H in PVHH. 1 Publication1
Natural variantiVAR_064411110 – 112NIF → I in PVHH. 1 Publication3
Natural variantiVAR_064043280P → R in PVHH. 1 PublicationCorresponds to variant dbSNP:rs267606823EnsemblClinVar.1
Natural variantiVAR_064412326A → V in PVHH. 1 PublicationCorresponds to variant dbSNP:rs267606824EnsemblClinVar.1
Natural variantiVAR_064413352T → R in PVHH. 1 Publication1
Natural variantiVAR_064044398L → V in PVHH. 3 PublicationsCorresponds to variant dbSNP:rs267606822EnsemblClinVar.1
Natural variantiVAR_064414412G → R in PVHH. 1 Publication1
Natural variantiVAR_064415430T → M in PVHH. 1 PublicationCorresponds to variant dbSNP:rs267606825EnsemblClinVar.1
Natural variantiVAR_064045430T → R in PVHH. 1 PublicationCorresponds to variant dbSNP:rs267606825EnsemblClinVar.1

Keywords - Diseasei

Disease mutation

Organism-specific databases

DisGeNETi55640
MalaCardsiFLVCR2
MIMi225790 phenotype
OpenTargetsiENSG00000119686
Orphaneti221126 Fowler syndrome
PharmGKBiPA162388720

Polymorphism and mutation databases

BioMutaiFLVCR2
DMDMi46396034

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000848461 – 526Feline leukemia virus subgroup C receptor-related protein 2Add BLAST526

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei515PhosphoserineBy similarity1

Keywords - PTMi

Phosphoprotein

Proteomic databases

PaxDbiQ9UPI3
PeptideAtlasiQ9UPI3
PRIDEiQ9UPI3
ProteomicsDBi85372
85373 [Q9UPI3-2]

PTM databases

iPTMnetiQ9UPI3
PhosphoSitePlusiQ9UPI3

Expressioni

Tissue specificityi

Expressed in non-hematopoietic tissues, with relative abundant expression in brain, placenta, lung, liver and kidney. Also expressed in hematopoietic tissues (fetal liver, spleen, lymph node, thymus, leukocytes and bone marrow). Found in acidophil cells of the pituitary that secrete growth hormone and prolactin.

Gene expression databases

BgeeiENSG00000119686 Expressed in 168 organ(s), highest expression level in testis
CleanExiHS_FLVCR2
ExpressionAtlasiQ9UPI3 baseline and differential
GenevisibleiQ9UPI3 HS

Organism-specific databases

HPAiHPA037984

Interactioni

Protein-protein interaction databases

BioGridi120777, 4 interactors
STRINGi9606.ENSP00000238667

Structurei

3D structure databases

ProteinModelPortaliQ9UPI3
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Repeati25 – 3016
Repeati31 – 3626
Repeati37 – 4236
Repeati43 – 4846
Repeati49 – 5456
Repeati55 – 606; approximate6
Repeati61 – 667; approximate6
Repeati67 – 7286

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni25 – 728 X 6 AA tandem repeats of P-S-[VS]-S-[VIAG]-[HNP]Add BLAST48

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi507 – 511Poly-Glu5

Sequence similaritiesi

Keywords - Domaini

Repeat, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiKOG2563 Eukaryota
ENOG410XSTK LUCA
GeneTreeiENSGT00530000062892
HOGENOMiHOG000019717
HOVERGENiHBG051631
InParanoidiQ9UPI3
KOiK08220
OMAiFMHFYGV
OrthoDBiEOG091G0FJM
PhylomeDBiQ9UPI3
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 6 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: Q9UPI3-1) [UniParc]FASTAAdd to basket

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
MVNEGPNQEE SDDTPVPESA LQADPSVSVH PSVSVHPSVS INPSVSVHPS
60 70 80 90 100
SSAHPSALAQ PSGLAHPSSS GPEDLSVIKV SRRRWAVVLV FSCYSMCNSF
110 120 130 140 150
QWIQYGSINN IFMHFYGVSA FAIDWLSMCY MLTYIPLLLP VAWLLEKFGL
160 170 180 190 200
RTIALTGSAL NCLGAWVKLG SLKPHLFPVT VVGQLICSVA QVFILGMPSR
210 220 230 240 250
IASVWFGANE VSTACSVAVF GNQLGIAIGF LVPPVLVPNI EDRDELAYHI
260 270 280 290 300
SIMFYIIGGV ATLLLILVII VFKEKPKYPP SRAQSLSYAL TSPDASYLGS
310 320 330 340 350
IARLFKNLNF VLLVITYGLN AGAFYALSTL LNRMVIWHYP GEEVNAGRIG
360 370 380 390 400
LTIVIAGMLG AVISGIWLDR SKTYKETTLV VYIMTLVGMV VYTFTLNLGH
410 420 430 440 450
LWVVFITAGT MGFFMTGYLP LGFEFAVELT YPESEGISSG LLNISAQVFG
460 470 480 490 500
IIFTISQGQI IDNYGTKPGN IFLCVFLTLG AALTAFIKAD LRRQKANKET
510 520
LENKLQEEEE ESNTSKVPTA VSEDHL
Length:526
Mass (Da):57,241
Last modified:May 1, 2000 - v1
Checksum:iD233C07350B17870
GO
Isoform 2 (identifier: Q9UPI3-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-18: MVNEGPNQEESDDTPVPE → MSADNSSTICVCRSVRQE
     19-223: Missing.

Note: No experimental confirmation available.
Show »
Length:321
Mass (Da):35,262
Checksum:iDC129F2BDAFF1DA3
GO

Computationally mapped potential isoform sequencesi

There are 6 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
G3V5P5G3V5P5_HUMAN
Feline leukemia virus subgroup C re...
FLVCR2
241Annotation score:
G3V5Y3G3V5Y3_HUMAN
Feline leukemia virus subgroup C re...
FLVCR2
203Annotation score:
G3V4G2G3V4G2_HUMAN
Feline leukemia virus subgroup C re...
FLVCR2
203Annotation score:
G3V458G3V458_HUMAN
Feline leukemia virus subgroup C re...
FLVCR2
133Annotation score:
G3V391G3V391_HUMAN
Feline leukemia virus subgroup C re...
FLVCR2
88Annotation score:
G3V5Q8G3V5Q8_HUMAN
Feline leukemia virus subgroup C re...
FLVCR2
93Annotation score:

Sequence cautioni

The sequence BAB55381 differs from that shown. Reason: Erroneous initiation.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti419L → H in BAB55381 (PubMed:14702039).Curated1
Sequence conflicti439S → F in BAA91126 (PubMed:14702039).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_01827116V → A1 PublicationCorresponds to variant dbSNP:rs2287015EnsemblClinVar.1
Natural variantiVAR_06441084R → H in PVHH. 1 Publication1
Natural variantiVAR_064411110 – 112NIF → I in PVHH. 1 Publication3
Natural variantiVAR_064043280P → R in PVHH. 1 PublicationCorresponds to variant dbSNP:rs267606823EnsemblClinVar.1
Natural variantiVAR_064412326A → V in PVHH. 1 PublicationCorresponds to variant dbSNP:rs267606824EnsemblClinVar.1
Natural variantiVAR_064413352T → R in PVHH. 1 Publication1
Natural variantiVAR_064044398L → V in PVHH. 3 PublicationsCorresponds to variant dbSNP:rs267606822EnsemblClinVar.1
Natural variantiVAR_064414412G → R in PVHH. 1 Publication1
Natural variantiVAR_064415430T → M in PVHH. 1 PublicationCorresponds to variant dbSNP:rs267606825EnsemblClinVar.1
Natural variantiVAR_064045430T → R in PVHH. 1 PublicationCorresponds to variant dbSNP:rs267606825EnsemblClinVar.1
Natural variantiVAR_050299481A → T. Corresponds to variant dbSNP:rs35126362EnsemblClinVar.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0430481 – 18MVNEG…TPVPE → MSADNSSTICVCRSVRQE in isoform 2. 1 PublicationAdd BLAST18
Alternative sequenceiVSP_04304919 – 223Missing in isoform 2. 1 PublicationAdd BLAST205

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AY260572 mRNA Translation: AAP86633.1
AY260577 mRNA Translation: AAP86638.1
AF456126 mRNA Translation: AAO15528.1
AK000378 mRNA Translation: BAA91126.1
AK027804 mRNA Translation: BAB55381.1 Different initiation.
AK297002 mRNA Translation: BAH12471.1
AC007182 Genomic DNA Translation: AAD51374.1
CH471061 Genomic DNA Translation: EAW81235.1
BC019087 mRNA Translation: AAH19087.1
CCDSiCCDS55933.1 [Q9UPI3-2]
CCDS9844.1 [Q9UPI3-1]
RefSeqiNP_001182212.1, NM_001195283.1 [Q9UPI3-2]
NP_060261.2, NM_017791.2 [Q9UPI3-1]
UniGeneiHs.509966

Genome annotation databases

EnsembliENST00000238667; ENSP00000238667; ENSG00000119686 [Q9UPI3-1]
ENST00000539311; ENSP00000443439; ENSG00000119686 [Q9UPI3-2]
GeneIDi55640
KEGGihsa:55640
UCSCiuc001xrs.3 human [Q9UPI3-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AY260572 mRNA Translation: AAP86633.1
AY260577 mRNA Translation: AAP86638.1
AF456126 mRNA Translation: AAO15528.1
AK000378 mRNA Translation: BAA91126.1
AK027804 mRNA Translation: BAB55381.1 Different initiation.
AK297002 mRNA Translation: BAH12471.1
AC007182 Genomic DNA Translation: AAD51374.1
CH471061 Genomic DNA Translation: EAW81235.1
BC019087 mRNA Translation: AAH19087.1
CCDSiCCDS55933.1 [Q9UPI3-2]
CCDS9844.1 [Q9UPI3-1]
RefSeqiNP_001182212.1, NM_001195283.1 [Q9UPI3-2]
NP_060261.2, NM_017791.2 [Q9UPI3-1]
UniGeneiHs.509966

3D structure databases

ProteinModelPortaliQ9UPI3
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi120777, 4 interactors
STRINGi9606.ENSP00000238667

Protein family/group databases

TCDBi2.A.1.28.4 the major facilitator superfamily (mfs)

PTM databases

iPTMnetiQ9UPI3
PhosphoSitePlusiQ9UPI3

Polymorphism and mutation databases

BioMutaiFLVCR2
DMDMi46396034

Proteomic databases

PaxDbiQ9UPI3
PeptideAtlasiQ9UPI3
PRIDEiQ9UPI3
ProteomicsDBi85372
85373 [Q9UPI3-2]

Protocols and materials databases

DNASUi55640
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000238667; ENSP00000238667; ENSG00000119686 [Q9UPI3-1]
ENST00000539311; ENSP00000443439; ENSG00000119686 [Q9UPI3-2]
GeneIDi55640
KEGGihsa:55640
UCSCiuc001xrs.3 human [Q9UPI3-1]

Organism-specific databases

CTDi55640
DisGeNETi55640
EuPathDBiHostDB:ENSG00000119686.9
GeneCardsiFLVCR2
H-InvDBiHIX0037867
HGNCiHGNC:20105 FLVCR2
HPAiHPA037984
MalaCardsiFLVCR2
MIMi225790 phenotype
610865 gene
neXtProtiNX_Q9UPI3
OpenTargetsiENSG00000119686
Orphaneti221126 Fowler syndrome
PharmGKBiPA162388720
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG2563 Eukaryota
ENOG410XSTK LUCA
GeneTreeiENSGT00530000062892
HOGENOMiHOG000019717
HOVERGENiHBG051631
InParanoidiQ9UPI3
KOiK08220
OMAiFMHFYGV
OrthoDBiEOG091G0FJM
PhylomeDBiQ9UPI3
TreeFamiTF314292

Miscellaneous databases

ChiTaRSiFLVCR2 human
GenomeRNAii55640
PROiPR:Q9UPI3
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000119686 Expressed in 168 organ(s), highest expression level in testis
CleanExiHS_FLVCR2
ExpressionAtlasiQ9UPI3 baseline and differential
GenevisibleiQ9UPI3 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 nameiFLVC2_HUMAN
AccessioniPrimary (citable) accession number: Q9UPI3
Secondary accession number(s): B7Z485
, Q53ZT9, Q96JY3, Q9NX90
Entry historyiIntegrated into UniProtKB/Swiss-Prot: April 13, 2004
Last sequence update: May 1, 2000
Last modified: November 7, 2018
This is version 140 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 entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. Human chromosome 14
    Human chromosome 14: entries, gene names and cross-references to MIM
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