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Protein

Feline leukemia virus subgroup C receptor-related protein 2

Gene

FLVCR2

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-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

Complete GO annotation...

Keywords - Biological processi

Transport

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

HGNCiHGNC:20105. FLVCR2.

Subcellular locationi

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

GO - Cellular componenti

Complete GO annotation...

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 rs267606823dbSNPEnsembl.1
Natural variantiVAR_064412326A → V in PVHH. 1 PublicationCorresponds to variant rs267606824dbSNPEnsembl.1
Natural variantiVAR_064413352T → R in PVHH. 1 Publication1
Natural variantiVAR_064044398L → V in PVHH. 3 PublicationsCorresponds to variant rs267606822dbSNPEnsembl.1
Natural variantiVAR_064414412G → R in PVHH. 1 Publication1
Natural variantiVAR_064415430T → M in PVHH. 1 PublicationCorresponds to variant rs267606825dbSNPEnsembl.1
Natural variantiVAR_064045430T → R in PVHH. 1 PublicationCorresponds to variant rs267606825dbSNPEnsembl.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.

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.
CleanExiHS_FLVCR2.
ExpressionAtlasiQ9UPI3. baseline and differential.
GenevisibleiQ9UPI3. HS.

Organism-specific databases

HPAiHPA037984.
HPA037985.

Interactioni

Protein-protein interaction databases

BioGridi120777. 3 interactors.
MINTiMINT-4724942.
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.
InterProiIPR011701. MFS.
IPR020846. MFS_dom.
[Graphical view]
PfamiPF07690. MFS_1. 1 hit.
[Graphical view]
SUPFAMiSSF103473. SSF103473. 1 hit.
PROSITEiPS50850. MFS. 1 hit.
[Graphical view]

Sequences (2)i

Sequence statusi: Complete.

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

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

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 → A.1 PublicationCorresponds to variant rs2287015dbSNPEnsembl.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 rs267606823dbSNPEnsembl.1
Natural variantiVAR_064412326A → V in PVHH. 1 PublicationCorresponds to variant rs267606824dbSNPEnsembl.1
Natural variantiVAR_064413352T → R in PVHH. 1 Publication1
Natural variantiVAR_064044398L → V in PVHH. 3 PublicationsCorresponds to variant rs267606822dbSNPEnsembl.1
Natural variantiVAR_064414412G → R in PVHH. 1 Publication1
Natural variantiVAR_064415430T → M in PVHH. 1 PublicationCorresponds to variant rs267606825dbSNPEnsembl.1
Natural variantiVAR_064045430T → R in PVHH. 1 PublicationCorresponds to variant rs267606825dbSNPEnsembl.1
Natural variantiVAR_050299481A → T.Corresponds to variant rs35126362dbSNPEnsembl.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

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. 3 interactors.
MINTiMINT-4724942.
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.

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.
GeneCardsiFLVCR2.
H-InvDBHIX0037867.
HGNCiHGNC:20105. FLVCR2.
HPAiHPA037984.
HPA037985.
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

GenomeRNAii55640.
PROiQ9UPI3.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000119686.
CleanExiHS_FLVCR2.
ExpressionAtlasiQ9UPI3. baseline and differential.
GenevisibleiQ9UPI3. HS.

Family and domain databases

CDDicd06174. MFS. 1 hit.
InterProiIPR011701. MFS.
IPR020846. MFS_dom.
[Graphical view]
PfamiPF07690. MFS_1. 1 hit.
[Graphical view]
SUPFAMiSSF103473. SSF103473. 1 hit.
PROSITEiPS50850. MFS. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiFLVC2_HUMAN
AccessioniPrimary (citable) accession number: Q9UPI3
Secondary accession number(s): B7Z485
, Q53ZT9, Q96JY3, Q9NX90
Entry historyi
Integrated into UniProtKB/Swiss-Prot: April 13, 2004
Last sequence update: May 1, 2000
Last modified: November 2, 2016
This is version 130 of the entry and version 1 of the sequence. [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. Human chromosome 14
    Human chromosome 14: entries, gene names and cross-references to MIM
  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. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.