UniProtKB - Q8NA29 (NLS1_HUMAN)
Sodium-dependent lysophosphatidylcholine symporter 1
MFSD2A
Functioni
Sodium-dependent lysophosphatidylcholine (LPC) symporter, which plays an essential role for blood-brain barrier formation and function (PubMed:24828040, PubMed:34135507, PubMed:32572202).
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:34135507, 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 similarity6 PublicationsCatalytic activityi
- 1-(4Z,7Z,10Z,13Z,16Z,19Z-docosahexaenoyl)-sn-glycero-3-phosphocholine(in) + Na+(in) = 1-(4Z,7Z,10Z,13Z,16Z,19Z-docosahexaenoyl)-sn-glycero-3-phosphocholine(out) + Na+(out)1 Publication
- 1-(9Z-octadecenoyl)-sn-glycero-3-phosphocholine(in) + Na+(in) = 1-(9Z-octadecenoyl)-sn-glycero-3-phosphocholine(out) + Na+(out)1 Publication
- 1-hexadecanoyl-sn-glycero-3-phosphocholine(in) + Na+(in) = 1-hexadecanoyl-sn-glycero-3-phosphocholine(out) + Na+(out)By similarity
- a 1-acyl-sn-glycero-3-phosphoethanolamine(in) + Na+(in) = a 1-acyl-sn-glycero-3-phosphoethanolamine(out) + Na+(out)By similarity
GO - Molecular functioni
- fatty acid transmembrane transporter activity Source: BHF-UCL
- long-chain fatty acid transporter activity Source: ARUK-UCL
- lysophosphatidylcholine flippase activity Source: Ensembl
- lysophospholipid:sodium symporter activity Source: UniProtKB
- oleate transmembrane transporter activity Source: ARUK-UCL
- phospholipid transporter activity Source: Reactome
GO - Biological processi
- brain development Source: ARUK-UCL
- carbohydrate transport Source: InterPro
- cellular response to starvation Source: ARUK-UCL
- cognition Source: ARUK-UCL
- energy homeostasis Source: ARUK-UCL
- establishment of blood-brain barrier Source: UniProtKB
- fatty acid transport Source: ARUK-UCL
- hippocampus development Source: BHF-UCL
- lipid transport across blood-brain barrier Source: ARUK-UCL
- long-chain fatty acid transport Source: ARUK-UCL
- lysophospholipid translocation Source: ARUK-UCL
- lysophospholipid transport Source: BHF-UCL
- maintenance of blood-brain barrier Source: ARUK-UCL
- motor behavior Source: ARUK-UCL
- negative regulation of fatty acid beta-oxidation Source: ARUK-UCL
- organic substance transport Source: GO_Central
- phosphatidylcholine biosynthetic process Source: Reactome
- photoreceptor cell morphogenesis Source: ARUK-UCL
- photoreceptor cell outer segment organization Source: ARUK-UCL
- positive regulation of cell growth Source: ARUK-UCL
- positive regulation of triglyceride biosynthetic process Source: ARUK-UCL
- regulation of dendrite development Source: ARUK-UCL
- regulation of multicellular organism growth Source: ARUK-UCL
- regulation of neuron projection arborization Source: ARUK-UCL
- regulation of phosphatidylcholine metabolic process Source: ARUK-UCL
- regulation of phosphatidylethanolamine metabolic process Source: ARUK-UCL
- regulation of phosphatidylserine metabolic process Source: ARUK-UCL
- retinal pigment epithelium development Source: ARUK-UCL
- retina morphogenesis in camera-type eye Source: ARUK-UCL
- transcytosis Source: UniProtKB
- transport across blood-brain barrier Source: ARUK-UCL
- very-low-density lipoprotein particle assembly Source: ARUK-UCL
Keywordsi
Biological process | Lipid transport, Symport, Transport |
Enzyme and pathway databases
PathwayCommonsi | Q8NA29 |
Reactomei | R-HSA-1483191, Synthesis of PC |
SignaLinki | Q8NA29 |
Protein family/group databases
TCDBi | 2.A.2.3.8, the glycoside-pentoside-hexuronide (gph):cation symporter family |
Chemistry databases
SwissLipidsi | SLP:000001000 |
Names & Taxonomyi
Protein namesi | Recommended name: Sodium-dependent lysophosphatidylcholine symporter 1CuratedShort name: NLS1 Short name: Sodium-dependent LPC symporter 1 Alternative name(s): Major facilitator superfamily domain-containing protein 2A Short name: HsMFSD2A1 Publication |
Gene namesi | ORF Names:HMFN0656, PP9177, UNQ300/PRO3411 Publication |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
HGNCi | HGNC:25897, MFSD2A |
MIMi | 614397, gene |
neXtProti | NX_Q8NA29 |
VEuPathDBi | HostDB:ENSG00000168389 |
Subcellular locationi
Plasma membrane
- Cell membrane 2 Publications; Multi-pass membrane protein Sequence analysis
Endoplasmic reticulum
- Endoplasmic reticulum membrane By similarity; Multi-pass membrane protein Sequence analysis
Note: Cytoplasmic punctae that may represent vesicles shuttling between the endoplasmic reticulum and the plasma membrane (PubMed:21677192).1 Publication
Endoplasmic reticulum
- endoplasmic reticulum membrane Source: UniProtKB-SubCell
Plasma Membrane
- integral component of plasma membrane Source: UniProtKB
- plasma membrane Source: ARUK-UCL
Other locations
- integral component of membrane Source: ARUK-UCL
Topology
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Topological domaini | 1 – 40 | CytoplasmicBy similarityAdd BLAST | 40 | |
Transmembranei | 41 – 70 | HelicalBy similarityAdd BLAST | 30 | |
Topological domaini | 71 – 94 | ExtracellularBy similarityAdd BLAST | 24 | |
Transmembranei | 95 – 115 | HelicalBy similarityAdd BLAST | 21 | |
Topological domaini | 116 – 127 | CytoplasmicBy similarityAdd BLAST | 12 | |
Transmembranei | 128 – 147 | HelicalBy similarityAdd BLAST | 20 | |
Topological domaini | 148 – 157 | ExtracellularBy similarity | 10 | |
Transmembranei | 158 – 182 | HelicalBy similarityAdd BLAST | 25 | |
Topological domaini | 183 – 189 | CytoplasmicBy similarity | 7 | |
Transmembranei | 190 – 221 | HelicalBy similarityAdd BLAST | 32 | |
Topological domaini | 222 – 241 | ExtracellularBy similarityAdd BLAST | 20 | |
Transmembranei | 242 – 275 | HelicalBy similarityAdd BLAST | 34 | |
Topological domaini | 276 – 306 | CytoplasmicBy similarityAdd BLAST | 31 | |
Transmembranei | 307 – 333 | HelicalBy similarityAdd BLAST | 27 | |
Topological domaini | 334 – 344 | ExtracellularBy similarityAdd BLAST | 11 | |
Transmembranei | 345 – 363 | HelicalBy similarityAdd BLAST | 19 | |
Topological domaini | 364 – 367 | CytoplasmicBy similarity | 4 | |
Transmembranei | 368 – 389 | HelicalBy similarityAdd BLAST | 22 | |
Topological domaini | 390 – 392 | ExtracellularBy similarity | 3 | |
Transmembranei | 393 – 429 | HelicalBy similarityAdd BLAST | 37 | |
Topological domaini | 430 – 439 | CytoplasmicBy similarity | 10 | |
Transmembranei | 440 – 466 | HelicalBy similarityAdd BLAST | 27 | |
Topological domaini | 467 – 478 | ExtracellularBy similarityAdd BLAST | 12 | |
Transmembranei | 479 – 502 | HelicalBy similarityAdd BLAST | 24 | |
Topological domaini | 503 – 543 | CytoplasmicBy similarityAdd BLAST | 41 |
Keywords - Cellular componenti
Cell membrane, Endoplasmic reticulum, MembranePathology & Biotechi
Involvement in diseasei
Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain imaging abnormalities (NEDMISBA)4 Publications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_085538 | 81 | Missing in NEDMISBA; unknown pathological significance. 1 Publication | 1 | |
Natural variantiVAR_074624 | 172 | T → M in NEDMISBA; no effect on cell membrane localization; loss of LPC transport activity. 2 PublicationsCorresponds to variant dbSNP:rs1057517688Ensembl. | 1 | |
Natural variantiVAR_074625 | 179 | S → L in NEDMISBA; no effect on cell membrane localization; decreased LPC transport activity. 1 PublicationCorresponds to variant dbSNP:rs1057517689Ensembl. | 1 | |
Natural variantiVAR_085539 | 211 | T → M in NEDMISBA; reduced expression; no effect on cell membrane localization; decreased LPC transport activity. 1 Publication | 1 | |
Natural variantiVAR_085540 | 263 | V → F in NEDMISBA; reduced expression; no effect on cell membrane localization; decreased LPC transport activity. 1 Publication | 1 | |
Natural variantiVAR_085541 | 339 | R → H in NEDMISBA; reduced expression; no effect on cell membrane localization; no effect on LPC transport activity. 1 Publication | 1 | |
Natural variantiVAR_074626 | 352 | S → L in NEDMISBA; no effect on cell membrane localization; decreased LPC transport activity. 1 PublicationCorresponds to variant dbSNP:rs1057519087Ensembl. | 1 | |
Natural variantiVAR_085542 | 506 | P → L in NEDMISBA; reduced expression; no effect on cell membrane localization; loss of LPC transport activity. 1 Publication | 1 |
Mutagenesis
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Mutagenesisi | 57 | Q → E: Does not affect lysophosphatidylcholine (LPC) transport. 1 Publication | 1 | |
Mutagenesisi | 57 | Q → L: Abolished lysophosphatidylcholine (LPC) transport. 1 Publication | 1 | |
Mutagenesisi | 65 | F → A: Abolished lysophosphatidylcholine (LPC) transport. 1 Publication | 1 | |
Mutagenesisi | 66 | F → A: Abolished lysophosphatidylcholine (LPC) transport. 1 Publication | 1 | |
Mutagenesisi | 73 | D → A: Abolished lysophosphatidylcholine (LPC) transport. 1 Publication | 1 | |
Mutagenesisi | 103 | R → A, K or E: Reduced lysophosphatidylcholine (LPC) transport. 1 Publication | 1 | |
Mutagenesisi | 103 | R → A: No effect on cell sensitivity toward tunicamycin. 1 Publication | 1 | |
Mutagenesisi | 106 | D → A: No effect on cell sensitivity toward tunicamycin. 1 Publication | 1 | |
Mutagenesisi | 110 | D → A: Drastic loss of cell sensitivity toward tunicamycin. Abolished lysophosphatidylcholine (LPC) transport. 2 Publications | 1 | |
Mutagenesisi | 177 | P → T: Reduced expression; no effect on cell membrane localization; decreased LPC transport activity. 1 Publication | 1 | |
Mutagenesisi | 200 | M → F: Reduced lysophosphatidylcholine (LPC) transport. 1 Publication | 1 | |
Mutagenesisi | 225 | C → A: Reduced lysophosphatidylcholine (LPC) transport. 1 Publication | 1 | |
Mutagenesisi | 230 | N → Q: Loss of glycosylation; when associated with Q-240. 1 Publication | 1 | |
Mutagenesisi | 240 | N → Q: Loss of glycosylation; when associated with Q-230. 1 Publication | 1 | |
Mutagenesisi | 325 | E → A, D, Q or R: Abolished lysophosphatidylcholine (LPC) transport. 1 Publication | 1 | |
Mutagenesisi | 328 | F → A or Y: Reduced lysophosphatidylcholine (LPC) transport. 1 Publication | 1 | |
Mutagenesisi | 334 | Y → A: Does not affect lysophosphatidylcholine (LPC) transport. 1 Publication | 1 | |
Mutagenesisi | 339 | R → A: Reduced lysophosphatidylcholine (LPC) transport. 1 Publication | 1 | |
Mutagenesisi | 342 | F → A: Abolished lysophosphatidylcholine (LPC) transport. 1 Publication | 1 | |
Mutagenesisi | 346 | L → A: Abolished lysophosphatidylcholine (LPC) transport. 1 Publication | 1 | |
Mutagenesisi | 349 | I → A: Reduced lysophosphatidylcholine (LPC) transport. 1 Publication | 1 | |
Mutagenesisi | 350 | M → A: Reduced lysophosphatidylcholine (LPC) transport. 1 Publication | 1 | |
Mutagenesisi | 357 | I → A: Does not affect lysophosphatidylcholine (LPC) transport. 1 Publication | 1 | |
Mutagenesisi | 357 | I → W: Abolished lysophosphatidylcholine (LPC) transport. 1 Publication | 1 | |
Mutagenesisi | 361 | Q → W: Reduced lysophosphatidylcholine (LPC) transport. 1 Publication | 1 | |
Mutagenesisi | 404 | A → W: Abolished lysophosphatidylcholine (LPC) transport. 1 Publication | 1 | |
Mutagenesisi | 412 | F → I or W: Reduced lysophosphatidylcholine (LPC) transport. 1 Publication | 1 | |
Mutagenesisi | 416 | W → A or F: Reduced lysophosphatidylcholine (LPC) transport. 1 Publication | 1 | |
Mutagenesisi | 449 | K → A, R or Q: Reduced lysophosphatidylcholine (LPC) transport. 1 Publication | 1 | |
Mutagenesisi | 449 | K → A: Loss of plasma membrane localization. Loss of cell sensitivity toward tunicamycin. 1 Publication | 1 | |
Mutagenesisi | 468 | Y → A: Abolished lysophosphatidylcholine (LPC) transport. 1 Publication | 1 | |
Mutagenesisi | 473 | C → A: Reduced lysophosphatidylcholine (LPC) transport. 1 Publication | 1 |
Keywords - Diseasei
Disease variant, Primary microcephalyOrganism-specific databases
DisGeNETi | 84879 |
MalaCardsi | MFSD2A |
MIMi | 616486, phenotype |
OpenTargetsi | ENSG00000168389 |
Orphaneti | 2512, Autosomal recessive primary microcephaly |
PharmGKBi | PA165751549 |
Miscellaneous databases
Pharosi | Q8NA29, Tbio |
Genetic variation databases
BioMutai | MFSD2A |
DMDMi | 74751132 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
ChainiPRO_0000273387 | 1 – 543 | Sodium-dependent lysophosphatidylcholine symporter 1Add BLAST | 543 |
Amino acid modifications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Disulfide bondi | 225 ↔ 473 | 1 Publication | ||
Glycosylationi | 230 | N-linked (GlcNAc...) asparagine1 Publication | 1 | |
Glycosylationi | 240 | N-linked (GlcNAc...) asparagine1 Publication | 1 |
Keywords - PTMi
Disulfide bond, GlycoproteinProteomic databases
EPDi | Q8NA29 |
MassIVEi | Q8NA29 |
PaxDbi | Q8NA29 |
PeptideAtlasi | Q8NA29 |
PRIDEi | Q8NA29 |
ProteomicsDBi | 72626 [Q8NA29-1] 72627 [Q8NA29-2] 72628 [Q8NA29-3] |
PTM databases
GlyGeni | Q8NA29, 2 sites |
iPTMneti | Q8NA29 |
PhosphoSitePlusi | Q8NA29 |
Expressioni
Tissue specificityi
Gene expression databases
Bgeei | ENSG00000168389, Expressed in placenta and 190 other tissues |
ExpressionAtlasi | Q8NA29, baseline and differential |
Genevisiblei | Q8NA29, HS |
Organism-specific databases
HPAi | ENSG00000168389, Tissue enhanced (epididymis, liver) |
Interactioni
Subunit structurei
Interacts with ERVFRD-1/syncytin-2.
1 PublicationBinary interactionsi
Isoform 2 [Q8NA29-2]
With | #Exp. | IntAct |
---|---|---|
TMEM242 [Q9NWH2] | 3 | EBI-9641334,EBI-10315004 |
Protein-protein interaction databases
BioGRIDi | 124323, 3 interactors |
DIPi | DIP-47306N |
IntActi | Q8NA29, 4 interactors |
MINTi | Q8NA29 |
STRINGi | 9606.ENSP00000361895 |
Miscellaneous databases
RNActi | Q8NA29, protein |
Family & Domainsi
Region
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Regioni | 1 – 34 | DisorderedSequence analysisAdd BLAST | 34 |
Sequence similaritiesi
Keywords - Domaini
Transmembrane, Transmembrane helixPhylogenomic databases
eggNOGi | KOG4830, Eukaryota |
GeneTreei | ENSGT00390000005318 |
HOGENOMi | CLU_027408_6_1_1 |
InParanoidi | Q8NA29 |
OMAi | GLYTAWM |
OrthoDBi | 827101at2759 |
PhylomeDBi | Q8NA29 |
TreeFami | TF331194 |
Family and domain databases
Gene3Di | 1.20.1250.20, 2 hits |
InterProi | View protein in InterPro IPR039672, MFS_2 IPR036259, MFS_trans_sf |
PANTHERi | PTHR11328, PTHR11328, 1 hit |
SUPFAMi | SSF103473, SSF103473, 1 hit |
s (3+)i Sequence
Sequence statusi: Complete.
This entry describes 3 produced by isoformsialternative splicing. AlignAdd to basketThis entry has 3 described isoforms and 2 potential isoforms that are computationally mapped.Show allAlign All
This isoform has been chosen as the sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry. canonicali
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
Computationally mapped potential isoform sequencesi
There are 2 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basketQ5SSK0 | Q5SSK0_HUMAN | Sodium-dependent lysophosphatidylch... | MFSD2A | 266 | Annotation score: | ||
E7EPI8 | E7EPI8_HUMAN | Sodium-dependent lysophosphatidylch... | MFSD2A | 374 | Annotation score: |
Experimental Info
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Sequence conflicti | 229 | L → F in AAQ88999 (PubMed:12975309).Curated | 1 |
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_085538 | 81 | Missing in NEDMISBA; unknown pathological significance. 1 Publication | 1 | |
Natural variantiVAR_074624 | 172 | T → M in NEDMISBA; no effect on cell membrane localization; loss of LPC transport activity. 2 PublicationsCorresponds to variant dbSNP:rs1057517688Ensembl. | 1 | |
Natural variantiVAR_074625 | 179 | S → L in NEDMISBA; no effect on cell membrane localization; decreased LPC transport activity. 1 PublicationCorresponds to variant dbSNP:rs1057517689Ensembl. | 1 | |
Natural variantiVAR_085539 | 211 | T → M in NEDMISBA; reduced expression; no effect on cell membrane localization; decreased LPC transport activity. 1 Publication | 1 | |
Natural variantiVAR_085540 | 263 | V → F in NEDMISBA; reduced expression; no effect on cell membrane localization; decreased LPC transport activity. 1 Publication | 1 | |
Natural variantiVAR_085541 | 339 | R → H in NEDMISBA; reduced expression; no effect on cell membrane localization; no effect on LPC transport activity. 1 Publication | 1 | |
Natural variantiVAR_074626 | 352 | S → L in NEDMISBA; no effect on cell membrane localization; decreased LPC transport activity. 1 PublicationCorresponds to variant dbSNP:rs1057519087Ensembl. | 1 | |
Natural variantiVAR_085542 | 506 | P → L in NEDMISBA; reduced expression; no effect on cell membrane localization; loss of LPC transport activity. 1 Publication | 1 |
Alternative sequence
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Alternative sequenceiVSP_022540 | 1 – 186 | MAKGE…TMFIS → MWLRWALSLPPSSCLWAEPG MPSQTPWWASASANPPGPAW VALCPGSSSPRPWPSLPTSS SGSCPTSHTARPIGTCFSIA SLKQWSRVSMFPTRLSPCSS A in isoform 3. 1 PublicationAdd BLAST | 186 | |
Alternative sequenceiVSP_022539 | 77 – 89 | Missing in isoform 2. 5 PublicationsAdd BLAST | 13 |
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 |
CCDSi | CCDS44118.1 [Q8NA29-1] CCDS446.1 [Q8NA29-2] |
RefSeqi | NP_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] |
Genome annotation databases
Ensembli | ENST00000372809.5; ENSP00000361895.5; ENSG00000168389.18 ENST00000372811.10; ENSP00000361898.6; ENSG00000168389.18 [Q8NA29-2] |
GeneIDi | 84879 |
KEGGi | hsa:84879 |
MANE-Selecti | ENST00000372811.10; ENSP00000361898.6; NM_032793.5; NP_116182.2 [Q8NA29-2] |
UCSCi | uc001ceu.5, human [Q8NA29-1] |
Keywords - Coding sequence diversityi
Alternative splicingSimilar 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 |
CCDSi | CCDS44118.1 [Q8NA29-1] CCDS446.1 [Q8NA29-2] |
RefSeqi | NP_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] |
3D structure databases
AlphaFoldDBi | Q8NA29 |
SMRi | Q8NA29 |
ModBasei | Search... |
Protein-protein interaction databases
BioGRIDi | 124323, 3 interactors |
DIPi | DIP-47306N |
IntActi | Q8NA29, 4 interactors |
MINTi | Q8NA29 |
STRINGi | 9606.ENSP00000361895 |
Chemistry databases
SwissLipidsi | SLP:000001000 |
Protein family/group databases
TCDBi | 2.A.2.3.8, the glycoside-pentoside-hexuronide (gph):cation symporter family |
PTM databases
GlyGeni | Q8NA29, 2 sites |
iPTMneti | Q8NA29 |
PhosphoSitePlusi | Q8NA29 |
Genetic variation databases
BioMutai | MFSD2A |
DMDMi | 74751132 |
Proteomic databases
EPDi | Q8NA29 |
MassIVEi | Q8NA29 |
PaxDbi | Q8NA29 |
PeptideAtlasi | Q8NA29 |
PRIDEi | Q8NA29 |
ProteomicsDBi | 72626 [Q8NA29-1] 72627 [Q8NA29-2] 72628 [Q8NA29-3] |
Protocols and materials databases
Antibodypediai | 31983, 103 antibodies from 21 providers |
DNASUi | 84879 |
Genome annotation databases
Ensembli | ENST00000372809.5; ENSP00000361895.5; ENSG00000168389.18 ENST00000372811.10; ENSP00000361898.6; ENSG00000168389.18 [Q8NA29-2] |
GeneIDi | 84879 |
KEGGi | hsa:84879 |
MANE-Selecti | ENST00000372811.10; ENSP00000361898.6; NM_032793.5; NP_116182.2 [Q8NA29-2] |
UCSCi | uc001ceu.5, human [Q8NA29-1] |
Organism-specific databases
CTDi | 84879 |
DisGeNETi | 84879 |
GeneCardsi | MFSD2A |
HGNCi | HGNC:25897, MFSD2A |
HPAi | ENSG00000168389, Tissue enhanced (epididymis, liver) |
MalaCardsi | MFSD2A |
MIMi | 614397, gene 616486, phenotype |
neXtProti | NX_Q8NA29 |
OpenTargetsi | ENSG00000168389 |
Orphaneti | 2512, Autosomal recessive primary microcephaly |
PharmGKBi | PA165751549 |
VEuPathDBi | HostDB:ENSG00000168389 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | KOG4830, Eukaryota |
GeneTreei | ENSGT00390000005318 |
HOGENOMi | CLU_027408_6_1_1 |
InParanoidi | Q8NA29 |
OMAi | GLYTAWM |
OrthoDBi | 827101at2759 |
PhylomeDBi | Q8NA29 |
TreeFami | TF331194 |
Enzyme and pathway databases
PathwayCommonsi | Q8NA29 |
Reactomei | R-HSA-1483191, Synthesis of PC |
SignaLinki | Q8NA29 |
Miscellaneous databases
BioGRID-ORCSi | 84879, 11 hits in 1063 CRISPR screens |
ChiTaRSi | MFSD2A, human |
GeneWikii | MFSD2 |
GenomeRNAii | 84879 |
Pharosi | Q8NA29, Tbio |
PROi | PR:Q8NA29 |
RNActi | Q8NA29, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000168389, Expressed in placenta and 190 other tissues |
ExpressionAtlasi | Q8NA29, baseline and differential |
Genevisiblei | Q8NA29, HS |
Family and domain databases
Gene3Di | 1.20.1250.20, 2 hits |
InterProi | View protein in InterPro IPR039672, MFS_2 IPR036259, MFS_trans_sf |
PANTHERi | PTHR11328, PTHR11328, 1 hit |
SUPFAMi | SSF103473, SSF103473, 1 hit |
MobiDBi | Search... |
Entry informationi
Entry namei | NLS1_HUMAN | |
Accessioni | Q8NA29Primary (citable) accession number: Q8NA29 Secondary accession number(s): A8K675 Q9BRC8 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | January 23, 2007 |
Last sequence update: | October 1, 2002 | |
Last modified: | May 25, 2022 | |
This is version 147 of the entry and version 1 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any 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
Reference proteomeDocuments
- Human chromosome 1
Human chromosome 1: entries, gene names and cross-references to MIM - Human entries with genetic variants
List of human entries with genetic variants - Human variants curated from literature reports
Index of human variants curated from literature reports - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot - SIMILARITY comments
Index of protein domains and families