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Protein

Sodium-dependent lysophosphatidylcholine symporter 1

Gene

MFSD2A

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

Functioni

Sodium-dependent lysophosphatidylcholine (LPC) symporter, which plays an essential role for blood-brain barrier formation and function (By similarity). Specifically expressed in endothelium of the blood-brain barrier of micro-vessels and transports LPC into the brain (By similarity). Transport of LPC is essential because it constitutes the major mechanism by which docosahexaenoic acid (DHA), an omega-3 fatty acid that is essential for normal brain growth and cognitive function, enters the brain (PubMed:26005868). Transports LPC carrying long-chain fatty acids such LPC oleate and LPC palmitate with a minimum acyl chain length of 14 carbons (By similarity). Does not transport docosahexaenoic acid in unesterified fatty acid (By similarity). Specifically required for blood-brain barrier formation and function, probably by mediating lipid transport (By similarity). Not required for central nervous system vascular morphogenesis (By similarity). Acts as a transporter for tunicamycin, an inhibitor of asparagine-linked glycosylation (PubMed:21677192). In placenta, acts as a receptor for ERVFRD-1/syncytin-2 and is required for trophoblast fusion (PubMed:18988732, PubMed:23177091).By similarity4 Publications

GO - Molecular functioni

  • fatty acid transmembrane transporter activity Source: BHF-UCL
  • lysophospholipid transporter activity Source: BHF-UCL
  • phospholipid transporter activity Source: UniProtKB
  • symporter activity Source: UniProtKB

GO - Biological processi

Keywordsi

Biological processLipid transport, Symport, Transport

Enzyme and pathway databases

ReactomeiR-HSA-1483191 Synthesis of PC

Protein family/group databases

TCDBi2.A.2.3.8 the glycoside-pentoside-hexuronide (gph):cation symporter family

Chemistry databases

SwissLipidsiSLP:000001000

Names & Taxonomyi

Protein namesi
Recommended name:
Sodium-dependent lysophosphatidylcholine symporter 1
Short name:
NLS1
Short name:
Sodium-dependent LPC symporter 1
Alternative name(s):
Major facilitator superfamily domain-containing protein 2A
Gene namesi
Name:MFSD2A
Synonyms:MFSD2, NLS1
ORF Names:HMFN0656, PP9177, UNQ300/PRO341
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 1

Organism-specific databases

EuPathDBiHostDB:ENSG00000168389.17
HGNCiHGNC:25897 MFSD2A
MIMi614397 gene
neXtProtiNX_Q8NA29

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 – 46ExtracellularSequence analysisAdd BLAST46
Transmembranei47 – 67HelicalSequence analysisAdd BLAST21
Topological domaini68 – 80CytoplasmicSequence analysisAdd BLAST13
Transmembranei81 – 101HelicalSequence analysisAdd BLAST21
Topological domaini102 – 128ExtracellularSequence analysisAdd BLAST27
Transmembranei129 – 149HelicalSequence analysisAdd BLAST21
Topological domaini150 – 160CytoplasmicSequence analysisAdd BLAST11
Transmembranei161 – 181HelicalSequence analysisAdd BLAST21
Topological domaini182 – 256ExtracellularSequence analysisAdd BLAST75
Transmembranei257 – 277HelicalSequence analysisAdd BLAST21
Topological domaini278 – 310CytoplasmicSequence analysisAdd BLAST33
Transmembranei311 – 331HelicalSequence analysisAdd BLAST21
Topological domaini332 – 344ExtracellularSequence analysisAdd BLAST13
Transmembranei345 – 365HelicalSequence analysisAdd BLAST21
Topological domaini366 – 370CytoplasmicSequence analysis5
Transmembranei371 – 391HelicalSequence analysisAdd BLAST21
Topological domaini392 – 393ExtracellularSequence analysis2
Transmembranei394 – 414HelicalSequence analysisAdd BLAST21
Topological domaini415 – 437CytoplasmicSequence analysisAdd BLAST23
Transmembranei438 – 458HelicalSequence analysisAdd BLAST21
Topological domaini459 – 480ExtracellularSequence analysisAdd BLAST22
Transmembranei481 – 501HelicalSequence analysisAdd BLAST21
Topological domaini502 – 543CytoplasmicSequence analysisAdd BLAST42

Keywords - Cellular componenti

Cell membrane, Endoplasmic reticulum, Membrane

Pathology & Biotechi

Involvement in diseasei

Microcephaly 15, primary, autosomal recessive (MCPH15)2 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA form of microcephaly, a disease defined as a head circumference more than 3 standard deviations below the age, sex and ethnically matched mean. Brain weight is markedly reduced and the cerebral cortex is disproportionately small.
See also OMIM:616486
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_074624172T → M in MCPH15; properly expressed at the plasma membrane; loss of LPC transport activity. 1 PublicationCorresponds to variant dbSNP:rs1057517688Ensembl.1
Natural variantiVAR_074625179S → L in MCPH15; properly expressed at the plasma membrane; decreased LPC transport activity. 1 PublicationCorresponds to variant dbSNP:rs1057517689Ensembl.1
Natural variantiVAR_074626352S → L in MCPH15; properly expressed at the plasma membrane; decreased LPC transport activity. 1 PublicationCorresponds to variant dbSNP:rs1057519087Ensembl.1

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Mutagenesisi103R → A: No effect on cell sensitivity toward tunicamycin. 1 Publication1
Mutagenesisi106D → A: No effect on cell sensitivity toward tunicamycin. 1 Publication1
Mutagenesisi110D → A: Drastic loss of cell sensitivity toward tunicamycin. 1 Publication1
Mutagenesisi230N → Q: Loss of glycosylation; when associated with Q-240. 1 Publication1
Mutagenesisi240N → Q: Loss of glycosylation; when associated with Q-230. 1 Publication1
Mutagenesisi449K → A: Loss of plasma membrane localization. Loss of cell sensitivity toward tunicamycin. 1 Publication1

Keywords - Diseasei

Disease mutation, Primary microcephaly

Organism-specific databases

DisGeNETi84879
MalaCardsiMFSD2A
MIMi616486 phenotype
OpenTargetsiENSG00000168389
Orphaneti2512 Autosomal recessive primary microcephaly
PharmGKBiPA165751549

Polymorphism and mutation databases

BioMutaiMFSD2A
DMDMi74751132

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00002733871 – 543Sodium-dependent lysophosphatidylcholine symporter 1Add BLAST543

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Glycosylationi230N-linked (GlcNAc...) asparagine1 Publication1
Glycosylationi240N-linked (GlcNAc...) asparagine1 Publication1

Post-translational modificationi

N-glycosylated.1 Publication

Keywords - PTMi

Glycoprotein

Proteomic databases

PaxDbiQ8NA29
PeptideAtlasiQ8NA29
PRIDEiQ8NA29
ProteomicsDBi72626
72627 [Q8NA29-2]
72628 [Q8NA29-3]

PTM databases

iPTMnetiQ8NA29
PhosphoSitePlusiQ8NA29

Expressioni

Tissue specificityi

In placenta, associated with trophoblast cells.1 Publication

Gene expression databases

BgeeiENSG00000168389 Expressed in 171 organ(s), highest expression level in placenta
CleanExiHS_MFSD2
ExpressionAtlasiQ8NA29 baseline and differential
GenevisibleiQ8NA29 HS

Organism-specific databases

HPAiHPA043107

Interactioni

Subunit structurei

Interacts with ERVFRD-1/syncytin-2.1 Publication

Protein-protein interaction databases

DIPiDIP-47306N
IntActiQ8NA29, 2 interactors
STRINGi9606.ENSP00000361895

Structurei

3D structure databases

ProteinModelPortaliQ8NA29
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi35 – 38Poly-Lys4

Sequence similaritiesi

Belongs to the major facilitator superfamily.Curated

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiKOG4830 Eukaryota
COG2211 LUCA
GeneTreeiENSGT00390000005318
HOGENOMiHOG000294186
HOVERGENiHBG080097
InParanoidiQ8NA29
OMAiYLCSWLA
OrthoDBiEOG091G06N1
PhylomeDBiQ8NA29
TreeFamiTF331194

Family and domain databases

InterProiView protein in InterPro
IPR039672 MFS_2
IPR036259 MFS_trans_sf
PANTHERiPTHR11328 PTHR11328, 1 hit
SUPFAMiSSF103473 SSF103473, 1 hit

Sequences (3+)i

Sequence statusi: Complete.

This entry describes 3 isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 3 described isoforms and 2 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: Q8NA29-1) [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
MAKGEGAESG SAAGLLPTSI LQSTERPAQV KKEPKKKKQQ LSVCNKLCYA
60 70 80 90 100
LGGAPYQVTG CALGFFLQIY LLDVAQKDEE VVFCFSSFQV GPFSASIILF
110 120 130 140 150
VGRAWDAITD PLVGLCISKS PWTCLGRLMP WIIFSTPLAV IAYFLIWFVP
160 170 180 190 200
DFPHGQTYWY LLFYCLFETM VTCFHVPYSA LTMFISTEQT ERDSATAYRM
210 220 230 240 250
TVEVLGTVLG TAIQGQIVGQ ADTPCFQDLN SSTVASQSAN HTHGTTSHRE
260 270 280 290 300
TQKAYLLAAG VIVCIYIICA VILILGVREQ REPYEAQQSE PIAYFRGLRL
310 320 330 340 350
VMSHGPYIKL ITGFLFTSLA FMLVEGNFVL FCTYTLGFRN EFQNLLLAIM
360 370 380 390 400
LSATLTIPIW QWFLTRFGKK TAVYVGISSA VPFLILVALM ESNLIITYAV
410 420 430 440 450
AVAAGISVAA AFLLPWSMLP DVIDDFHLKQ PHFHGTEPIF FSFYVFFTKF
460 470 480 490 500
ASGVSLGIST LSLDFAGYQT RGCSQPERVK FTLNMLVTMA PIVLILLGLL
510 520 530 540
LFKMYPIDEE RRRQNKKALQ ALRDEASSSG CSETDSTELA SIL
Length:543
Mass (Da):60,170
Last modified:October 1, 2002 - v1
Checksum:iC9933B79335BFBDE
GO
Isoform 2 (identifier: Q8NA29-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     77-89: Missing.

Show »
Length:530
Mass (Da):58,624
Checksum:i3B6978F4EA92C763
GO
Isoform 3 (identifier: Q8NA29-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-186: MAKGEGAESG...PYSALTMFIS → MWLRWALSLP...PTRLSPCSSA

Note: No experimental confirmation available.
Show »
Length:458
Mass (Da):50,230
Checksum:i4C470B6380870E38
GO

Computationally mapped potential isoform sequencesi

There are 2 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
E7EPI8E7EPI8_HUMAN
Sodium-dependent lysophosphatidylch...
MFSD2A
374Annotation score:
Q5SSK0Q5SSK0_HUMAN
Sodium-dependent lysophosphatidylch...
MFSD2A
266Annotation score:

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti229L → F in AAQ88999 (PubMed:12975309).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_074624172T → M in MCPH15; properly expressed at the plasma membrane; loss of LPC transport activity. 1 PublicationCorresponds to variant dbSNP:rs1057517688Ensembl.1
Natural variantiVAR_074625179S → L in MCPH15; properly expressed at the plasma membrane; decreased LPC transport activity. 1 PublicationCorresponds to variant dbSNP:rs1057517689Ensembl.1
Natural variantiVAR_074626352S → L in MCPH15; properly expressed at the plasma membrane; decreased LPC transport activity. 1 PublicationCorresponds to variant dbSNP:rs1057519087Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0225401 – 186MAKGE…TMFIS → MWLRWALSLPPSSCLWAEPG MPSQTPWWASASANPPGPAW VALCPGSSSPRPWPSLPTSS SGSCPTSHTARPIGTCFSIA SLKQWSRVSMFPTRLSPCSS A in isoform 3. 1 PublicationAdd BLAST186
Alternative sequenceiVSP_02253977 – 89Missing in isoform 2. 5 PublicationsAdd BLAST13

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AY358636 mRNA Translation: AAQ88999.1
AK093223 mRNA Translation: BAC04100.1
AB073383 mRNA Translation: BAD38634.1
AF289609 mRNA Translation: AAL55793.1
AK075183 mRNA Translation: BAC11456.1
AK291540 mRNA Translation: BAF84229.1
AL663070 Genomic DNA No translation available.
CH471059 Genomic DNA Translation: EAX07248.1
BC006353 mRNA Translation: AAH06353.2
BC011587 mRNA Translation: AAH11587.1
BC092414 mRNA Translation: AAH92414.1
CCDSiCCDS44118.1 [Q8NA29-1]
CCDS446.1 [Q8NA29-2]
RefSeqiNP_001129965.1, NM_001136493.2 [Q8NA29-1]
NP_001274737.1, NM_001287808.1
NP_001274738.1, NM_001287809.1
NP_116182.2, NM_032793.4 [Q8NA29-2]
UniGeneiHs.655177

Genome annotation databases

EnsembliENST00000372809; ENSP00000361895; ENSG00000168389 [Q8NA29-1]
ENST00000372811; ENSP00000361898; ENSG00000168389 [Q8NA29-2]
GeneIDi84879
KEGGihsa:84879
UCSCiuc001ceu.5 human [Q8NA29-1]

Keywords - Coding sequence diversityi

Alternative splicing

Similar proteinsi

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AY358636 mRNA Translation: AAQ88999.1
AK093223 mRNA Translation: BAC04100.1
AB073383 mRNA Translation: BAD38634.1
AF289609 mRNA Translation: AAL55793.1
AK075183 mRNA Translation: BAC11456.1
AK291540 mRNA Translation: BAF84229.1
AL663070 Genomic DNA No translation available.
CH471059 Genomic DNA Translation: EAX07248.1
BC006353 mRNA Translation: AAH06353.2
BC011587 mRNA Translation: AAH11587.1
BC092414 mRNA Translation: AAH92414.1
CCDSiCCDS44118.1 [Q8NA29-1]
CCDS446.1 [Q8NA29-2]
RefSeqiNP_001129965.1, NM_001136493.2 [Q8NA29-1]
NP_001274737.1, NM_001287808.1
NP_001274738.1, NM_001287809.1
NP_116182.2, NM_032793.4 [Q8NA29-2]
UniGeneiHs.655177

3D structure databases

ProteinModelPortaliQ8NA29
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

DIPiDIP-47306N
IntActiQ8NA29, 2 interactors
STRINGi9606.ENSP00000361895

Chemistry databases

SwissLipidsiSLP:000001000

Protein family/group databases

TCDBi2.A.2.3.8 the glycoside-pentoside-hexuronide (gph):cation symporter family

PTM databases

iPTMnetiQ8NA29
PhosphoSitePlusiQ8NA29

Polymorphism and mutation databases

BioMutaiMFSD2A
DMDMi74751132

Proteomic databases

PaxDbiQ8NA29
PeptideAtlasiQ8NA29
PRIDEiQ8NA29
ProteomicsDBi72626
72627 [Q8NA29-2]
72628 [Q8NA29-3]

Protocols and materials databases

DNASUi84879
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000372809; ENSP00000361895; ENSG00000168389 [Q8NA29-1]
ENST00000372811; ENSP00000361898; ENSG00000168389 [Q8NA29-2]
GeneIDi84879
KEGGihsa:84879
UCSCiuc001ceu.5 human [Q8NA29-1]

Organism-specific databases

CTDi84879
DisGeNETi84879
EuPathDBiHostDB:ENSG00000168389.17
GeneCardsiMFSD2A
HGNCiHGNC:25897 MFSD2A
HPAiHPA043107
MalaCardsiMFSD2A
MIMi614397 gene
616486 phenotype
neXtProtiNX_Q8NA29
OpenTargetsiENSG00000168389
Orphaneti2512 Autosomal recessive primary microcephaly
PharmGKBiPA165751549
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG4830 Eukaryota
COG2211 LUCA
GeneTreeiENSGT00390000005318
HOGENOMiHOG000294186
HOVERGENiHBG080097
InParanoidiQ8NA29
OMAiYLCSWLA
OrthoDBiEOG091G06N1
PhylomeDBiQ8NA29
TreeFamiTF331194

Enzyme and pathway databases

ReactomeiR-HSA-1483191 Synthesis of PC

Miscellaneous databases

ChiTaRSiMFSD2A human
GeneWikiiMFSD2
GenomeRNAii84879
PROiPR:Q8NA29
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000168389 Expressed in 171 organ(s), highest expression level in placenta
CleanExiHS_MFSD2
ExpressionAtlasiQ8NA29 baseline and differential
GenevisibleiQ8NA29 HS

Family and domain databases

InterProiView protein in InterPro
IPR039672 MFS_2
IPR036259 MFS_trans_sf
PANTHERiPTHR11328 PTHR11328, 1 hit
SUPFAMiSSF103473 SSF103473, 1 hit
ProtoNetiSearch...

Entry informationi

Entry nameiNLS1_HUMAN
AccessioniPrimary (citable) accession number: Q8NA29
Secondary accession number(s): A8K675
, Q6UWU5, Q96F59, Q9BRC8
Entry historyiIntegrated into UniProtKB/Swiss-Prot: January 23, 2007
Last sequence update: October 1, 2002
Last modified: November 7, 2018
This is version 125 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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