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UniProtKB - Q8NA29 (NLS1_HUMAN)

Entry version 147 (25 May 2022)
Sequence version 1 (01 Oct 2002)
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Protein

Sodium-dependent lysophosphatidylcholine symporter 1

Gene

MFSD2A

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

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the 'protein existence' evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>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 Publications

<p>This subsection of the <a href="http://www.uniprot.org/help/function%5Fsection">Function</a> section describes the catalytic activity of an enzyme, i.e. a chemical reaction that the enzyme catalyzes.<p><a href='/help/catalytic_activity' target='_top'>More...</a></p>Catalytic activityi

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

Complete GO annotation on QuickGO ...

GO - Biological processi

Complete GO annotation on QuickGO ...

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

Biological processLipid transport, Symport, Transport

Enzyme and pathway databases

Pathway Commons web resource for biological pathway data

More...PathwayCommonsi		Q8NA29

Reactome - a knowledgebase of biological pathways and processes

More...Reactomei		R-HSA-1483191, Synthesis of PC

SignaLink: a signaling pathway resource with multi-layered regulatory networks

More...SignaLinki		Q8NA29

Protein family/group databases

Transport Classification Database

More...TCDBi		2.A.2.3.8, the glycoside-pentoside-hexuronide (gph):cation symporter family

Chemistry databases

SwissLipids knowledge resource for lipid biology

More...SwissLipidsi		SLP:000001000

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
Sodium-dependent lysophosphatidylcholine symporter 1Curated
Short name:
NLS1
Short name:
Sodium-dependent LPC symporter 1
Alternative name(s):
Major facilitator superfamily domain-containing protein 2A
Short name:
HsMFSD2A1 Publication
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: 'Name', 'Synonyms', 'Ordered locus names' and 'ORF names'.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:MFSD2A1 PublicationImported
Synonyms:MFSD2, NLS1
ORF Names:HMFN0656, PP9177, UNQ300/PRO3411 Publication
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the 'taxonomic identifier' or 'taxid'.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes%5Fmanual">proteome</a> can consist of several components.<br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 1

Organism-specific databases

Human Gene Nomenclature Database

More...HGNCi		HGNC:25897, MFSD2A

Online Mendelian Inheritance in Man (OMIM)

More...MIMi		614397, gene

neXtProt; the human protein knowledge platform

More...neXtProti		NX_Q8NA29

Eukaryotic Pathogen, Vector and Host Database Resources

More...VEuPathDBi		HostDB:ENSG00000168389

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular%5Flocation%5Fsection">'Subcellular location'</a> section describes the subcellular compartment where each non-membrane region of a membrane-spanning protein is found.<p><a href='/help/topo_dom' target='_top'>More...</a></p>Topological domaini1 – 40CytoplasmicBy similarityAdd BLAST40
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular%5Flocation%5Fsection">'Subcellular location'</a> section describes the extent of a membrane-spanning region of the protein. It denotes the presence of both alpha-helical transmembrane regions and the membrane spanning regions of beta-barrel transmembrane proteins.<p><a href='/help/transmem' target='_top'>More...</a></p>Transmembranei41 – 70HelicalBy similarityAdd BLAST30
Topological domaini71 – 94ExtracellularBy similarityAdd BLAST24
Transmembranei95 – 115HelicalBy similarityAdd BLAST21
Topological domaini116 – 127CytoplasmicBy similarityAdd BLAST12
Transmembranei128 – 147HelicalBy similarityAdd BLAST20
Topological domaini148 – 157ExtracellularBy similarity10
Transmembranei158 – 182HelicalBy similarityAdd BLAST25
Topological domaini183 – 189CytoplasmicBy similarity7
Transmembranei190 – 221HelicalBy similarityAdd BLAST32
Topological domaini222 – 241ExtracellularBy similarityAdd BLAST20
Transmembranei242 – 275HelicalBy similarityAdd BLAST34
Topological domaini276 – 306CytoplasmicBy similarityAdd BLAST31
Transmembranei307 – 333HelicalBy similarityAdd BLAST27
Topological domaini334 – 344ExtracellularBy similarityAdd BLAST11
Transmembranei345 – 363HelicalBy similarityAdd BLAST19
Topological domaini364 – 367CytoplasmicBy similarity4
Transmembranei368 – 389HelicalBy similarityAdd BLAST22
Topological domaini390 – 392ExtracellularBy similarity3
Transmembranei393 – 429HelicalBy similarityAdd BLAST37
Topological domaini430 – 439CytoplasmicBy similarity10
Transmembranei440 – 466HelicalBy similarityAdd BLAST27
Topological domaini467 – 478ExtracellularBy similarityAdd BLAST12
Transmembranei479 – 502HelicalBy similarityAdd BLAST24
Topological domaini503 – 543CytoplasmicBy similarityAdd BLAST41

Keywords - Cellular componenti

Cell membrane, Endoplasmic reticulum, Membrane

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the 'Pathology and Biotech' section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>Involvement in diseasei

Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain imaging abnormalities (NEDMISBA)4 Publications
The disease is caused by variants affecting the gene represented in this entry.
Disease descriptionAn autosomal recessive disorder characterized by impaired intellectual development with poor speech, progressive microcephaly, and appendicular spasticity. Brain imaging usually shows abnormalities, including enlarged ventricles, white matter defects, and atrophy or hypoplasia of brain tissue. Some patients have a more severe phenotype with seizures, lack of developmental milestones, and early death.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_08553881Missing in NEDMISBA; unknown pathological significance. 1 Publication1
Natural variantiVAR_074624172T → M in NEDMISBA; no effect on cell membrane localization; loss of LPC transport activity. 2 PublicationsCorresponds to variant dbSNP:rs1057517688Ensembl.1
Natural variantiVAR_074625179S → L in NEDMISBA; no effect on cell membrane localization; decreased LPC transport activity. 1 PublicationCorresponds to variant dbSNP:rs1057517689Ensembl.1
Natural variantiVAR_085539211T → M in NEDMISBA; reduced expression; no effect on cell membrane localization; decreased LPC transport activity. 1 Publication1
Natural variantiVAR_085540263V → F in NEDMISBA; reduced expression; no effect on cell membrane localization; decreased LPC transport activity. 1 Publication1
Natural variantiVAR_085541339R → H in NEDMISBA; reduced expression; no effect on cell membrane localization; no effect on LPC transport activity. 1 Publication1
Natural variantiVAR_074626352S → L in NEDMISBA; no effect on cell membrane localization; decreased LPC transport activity. 1 PublicationCorresponds to variant dbSNP:rs1057519087Ensembl.1
Natural variantiVAR_085542506P → L in NEDMISBA; reduced expression; no effect on cell membrane localization; loss of LPC transport activity. 1 Publication1

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/manual/pathology%5Fand%5Fbiotech%5Fsection">'Pathology and Biotech'</a> section describes the effect of the experimental mutation of one or more amino acid(s) on the biological properties of the protein.<p><a href='/help/mutagen' target='_top'>More...</a></p>Mutagenesisi57Q → E: Does not affect lysophosphatidylcholine (LPC) transport. 1 Publication1
Mutagenesisi57Q → L: Abolished lysophosphatidylcholine (LPC) transport. 1 Publication1
Mutagenesisi65F → A: Abolished lysophosphatidylcholine (LPC) transport. 1 Publication1
Mutagenesisi66F → A: Abolished lysophosphatidylcholine (LPC) transport. 1 Publication1
Mutagenesisi73D → A: Abolished lysophosphatidylcholine (LPC) transport. 1 Publication1
Mutagenesisi103R → A, K or E: Reduced lysophosphatidylcholine (LPC) transport. 1 Publication1
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. Abolished lysophosphatidylcholine (LPC) transport. 2 Publications1
Mutagenesisi177P → T: Reduced expression; no effect on cell membrane localization; decreased LPC transport activity. 1 Publication1
Mutagenesisi200M → F: Reduced lysophosphatidylcholine (LPC) transport. 1 Publication1
Mutagenesisi225C → A: Reduced lysophosphatidylcholine (LPC) transport. 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
Mutagenesisi325E → A, D, Q or R: Abolished lysophosphatidylcholine (LPC) transport. 1 Publication1
Mutagenesisi328F → A or Y: Reduced lysophosphatidylcholine (LPC) transport. 1 Publication1
Mutagenesisi334Y → A: Does not affect lysophosphatidylcholine (LPC) transport. 1 Publication1
Mutagenesisi339R → A: Reduced lysophosphatidylcholine (LPC) transport. 1 Publication1
Mutagenesisi342F → A: Abolished lysophosphatidylcholine (LPC) transport. 1 Publication1
Mutagenesisi346L → A: Abolished lysophosphatidylcholine (LPC) transport. 1 Publication1
Mutagenesisi349I → A: Reduced lysophosphatidylcholine (LPC) transport. 1 Publication1
Mutagenesisi350M → A: Reduced lysophosphatidylcholine (LPC) transport. 1 Publication1
Mutagenesisi357I → A: Does not affect lysophosphatidylcholine (LPC) transport. 1 Publication1
Mutagenesisi357I → W: Abolished lysophosphatidylcholine (LPC) transport. 1 Publication1
Mutagenesisi361Q → W: Reduced lysophosphatidylcholine (LPC) transport. 1 Publication1
Mutagenesisi404A → W: Abolished lysophosphatidylcholine (LPC) transport. 1 Publication1
Mutagenesisi412F → I or W: Reduced lysophosphatidylcholine (LPC) transport. 1 Publication1
Mutagenesisi416W → A or F: Reduced lysophosphatidylcholine (LPC) transport. 1 Publication1
Mutagenesisi449K → A, R or Q: Reduced lysophosphatidylcholine (LPC) transport. 1 Publication1
Mutagenesisi449K → A: Loss of plasma membrane localization. Loss of cell sensitivity toward tunicamycin. 1 Publication1
Mutagenesisi468Y → A: Abolished lysophosphatidylcholine (LPC) transport. 1 Publication1
Mutagenesisi473C → A: Reduced lysophosphatidylcholine (LPC) transport. 1 Publication1

Keywords - Diseasei

Disease variant, Primary microcephaly

Organism-specific databases

DisGeNET

More...DisGeNETi		84879

MalaCards human disease database

More...MalaCardsi		MFSD2A
MIMi616486, phenotype

Open Targets

More...OpenTargetsi		ENSG00000168389

Orphanet; a database dedicated to information on rare diseases and orphan drugs

More...Orphaneti		2512, Autosomal recessive primary microcephaly

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...PharmGKBi		PA165751549

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...Pharosi		Q8NA29, Tbio

Genetic variation databases

BioMuta curated single-nucleotide variation and disease association database

More...BioMutai		MFSD2A

Domain mapping of disease mutations (DMDM)

More...DMDMi		74751132

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'PTM / Processing' section describes the extent of a polypeptide chain in the mature protein following processing or proteolytic cleavage.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00002733871 – 543Sodium-dependent lysophosphatidylcholine symporter 1Add BLAST543

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the PTM / Processing":/help/ptm_processing_section section describes the positions of cysteine residues participating in disulfide bonds.<p><a href='/help/disulfid' target='_top'>More...</a></p>Disulfide bondi225 ↔ 4731 Publication
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm%5Fprocessing%5Fsection">PTM / Processing</a> section specifies the position and type of each covalently attached glycan group (mono-, di-, or polysaccharide).<p><a href='/help/carbohyd' target='_top'>More...</a></p>Glycosylationi230N-linked (GlcNAc...) asparagine1 Publication1
Glycosylationi240N-linked (GlcNAc...) asparagine1 Publication1

Keywords - PTMi

Disulfide bond, Glycoprotein

Proteomic databases

Encyclopedia of Proteome Dynamics

More...EPDi		Q8NA29

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...MassIVEi		Q8NA29

PaxDb, a database of protein abundance averages across all three domains of life

More...PaxDbi		Q8NA29

PeptideAtlas

More...PeptideAtlasi		Q8NA29

PRoteomics IDEntifications database

More...PRIDEi		Q8NA29

ProteomicsDB: a multi-organism proteome resource

More...ProteomicsDBi		72626 [Q8NA29-1]
72627 [Q8NA29-2]
72628 [Q8NA29-3]

PTM databases

GlyGen: Computational and Informatics Resources for Glycoscience

More...GlyGeni		Q8NA29, 2 sites

iPTMnet integrated resource for PTMs in systems biology context

More...iPTMneti		Q8NA29

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

More...PhosphoSitePlusi		Q8NA29

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

<p>This subsection of the 'Expression' section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified 'at protein level'.<br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>Tissue specificityi

In placenta, associated with trophoblast cells.1 Publication

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...Bgeei		ENSG00000168389, Expressed in placenta and 190 other tissues

ExpressionAtlas, Differential and Baseline Expression

More...ExpressionAtlasi		Q8NA29, baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...Genevisiblei		Q8NA29, HS

Organism-specific databases

Human Protein Atlas

More...HPAi		ENSG00000168389, Tissue enhanced (epididymis, liver)

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction%5Fsection">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function%5Fsection">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Interacts with ERVFRD-1/syncytin-2.

1 Publication

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction%5Fsection">Interaction</a>' section provides information about binary protein-protein interactions. The data presented in this section are a quality-filtered subset of binary interactions automatically derived from the <a href="https://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated at every <a href="http://www.uniprot.org/help/synchronization">UniProt release</a>.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGRID)

More...BioGRIDi		124323, 3 interactors

Database of interacting proteins

More...DIPi		DIP-47306N

Protein interaction database and analysis system

More...IntActi		Q8NA29, 4 interactors

Molecular INTeraction database

More...MINTi		Q8NA29

STRING: functional protein association networks

More...STRINGi		9606.ENSP00000361895

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...RNActi		Q8NA29, protein

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

3D structure databases

AlphaFold Protein Structure Database

More...AlphaFoldDBi		Q8NA29

SWISS-MODEL Repository - a database of annotated 3D protein structure models

More...SMRi		Q8NA29

Database of comparative protein structure models

More...ModBasei		Search...

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Family and Domains' section describes a region of interest that cannot be described in other subsections.<p><a href='/help/region' target='_top'>More...</a></p>Regioni1 – 34DisorderedSequence analysisAdd BLAST34

<p>This subsection of the 'Family and domains' section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Belongs to the major facilitator superfamily.Curated

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...eggNOGi		KOG4830, Eukaryota

Ensembl GeneTree

More...GeneTreei		ENSGT00390000005318

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...HOGENOMi		CLU_027408_6_1_1

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		Q8NA29

Identification of Orthologs from Complete Genome Data

More...OMAi		GLYTAWM

Database of Orthologous Groups

More...OrthoDBi		827101at2759

Database for complete collections of gene phylogenies

More...PhylomeDBi		Q8NA29

TreeFam database of animal gene trees

More...TreeFami		TF331194

Family and domain databases

Gene3D Structural and Functional Annotation of Protein Families

More...Gene3Di		1.20.1250.20, 2 hits

Integrated resource of protein families, domains and functional sites

More...InterProi		View protein in InterPro
IPR039672, MFS_2
IPR036259, MFS_trans_sf

The PANTHER Classification System

More...PANTHERi		PTHR11328, PTHR11328, 1 hit

Superfamily database of structural and functional annotation

More...SUPFAMi		SSF103473, SSF103473, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence%5Flength">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (3+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences%5Fsection">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

This entry describes 3 <p>This subsection of the 'Sequence' section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform.<p><a href='/help/alternative_products' target='_top'>More...</a></p> 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 <p><strong>What is the canonical sequence?</strong><p><a href='/help/canonical_and_isoforms' target='_top'>More...</a></p>canonicali 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
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> 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

Show »
Length:458
Mass (Da):50,230
Checksum:i4C470B6380870E38
GO

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

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

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
E7EPI8E7EPI8_HUMAN
Sodium-dependent lysophosphatidylch...
MFSD2A
374Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>Sequence conflicti229L → F in AAQ88999 (PubMed:12975309).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_08553881Missing in NEDMISBA; unknown pathological significance. 1 Publication1
Natural variantiVAR_074624172T → M in NEDMISBA; no effect on cell membrane localization; loss of LPC transport activity. 2 PublicationsCorresponds to variant dbSNP:rs1057517688Ensembl.1
Natural variantiVAR_074625179S → L in NEDMISBA; no effect on cell membrane localization; decreased LPC transport activity. 1 PublicationCorresponds to variant dbSNP:rs1057517689Ensembl.1
Natural variantiVAR_085539211T → M in NEDMISBA; reduced expression; no effect on cell membrane localization; decreased LPC transport activity. 1 Publication1
Natural variantiVAR_085540263V → F in NEDMISBA; reduced expression; no effect on cell membrane localization; decreased LPC transport activity. 1 Publication1
Natural variantiVAR_085541339R → H in NEDMISBA; reduced expression; no effect on cell membrane localization; no effect on LPC transport activity. 1 Publication1
Natural variantiVAR_074626352S → L in NEDMISBA; no effect on cell membrane localization; decreased LPC transport activity. 1 PublicationCorresponds to variant dbSNP:rs1057519087Ensembl.1
Natural variantiVAR_085542506P → L in NEDMISBA; reduced expression; no effect on cell membrane localization; loss of LPC transport activity. 1 Publication1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting.<p><a href='/help/var_seq' target='_top'>More...</a></p>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:

EMBL nucleotide sequence database

More...EMBLi

GenBank nucleotide sequence database

More...GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...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

The Consensus CDS (CCDS) project

More...CCDSi		CCDS44118.1 [Q8NA29-1]
CCDS446.1 [Q8NA29-2]

NCBI Reference Sequences

More...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

Ensembl eukaryotic genome annotation project

More...Ensembli		ENST00000372809.5; ENSP00000361895.5; ENSG00000168389.18
ENST00000372811.10; ENSP00000361898.6; ENSG00000168389.18 [Q8NA29-2]

Database of genes from NCBI RefSeq genomes

More...GeneIDi		84879

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...KEGGi		hsa:84879

Matched Annotation from NCBI and EMBL-EBI (MANE) - Phase one

More...MANE-Selecti		ENST00000372811.10; ENSP00000361898.6; NM_032793.5; NP_116182.2 [Q8NA29-2]

UCSC genome browser

More...UCSCi		uc001ceu.5, human [Q8NA29-1]

Keywords - Coding sequence diversityi

Alternative splicing

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>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]

3D structure databases

AlphaFoldDBiQ8NA29
SMRiQ8NA29
ModBaseiSearch...

Protein-protein interaction databases

BioGRIDi124323, 3 interactors
DIPiDIP-47306N
IntActiQ8NA29, 4 interactors
MINTiQ8NA29
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

GlyGeniQ8NA29, 2 sites
iPTMnetiQ8NA29
PhosphoSitePlusiQ8NA29

Genetic variation databases

BioMutaiMFSD2A
DMDMi74751132

Proteomic databases

EPDiQ8NA29
MassIVEiQ8NA29
PaxDbiQ8NA29
PeptideAtlasiQ8NA29
PRIDEiQ8NA29
ProteomicsDBi72626 [Q8NA29-1]
72627 [Q8NA29-2]
72628 [Q8NA29-3]

Protocols and materials databases

Antibodypedia a portal for validated antibodies

More...Antibodypediai		31983, 103 antibodies from 21 providers

The DNASU plasmid repository

More...DNASUi		84879

Genome annotation databases

EnsembliENST00000372809.5; ENSP00000361895.5; ENSG00000168389.18
ENST00000372811.10; ENSP00000361898.6; ENSG00000168389.18 [Q8NA29-2]
GeneIDi84879
KEGGihsa:84879
MANE-SelectiENST00000372811.10; ENSP00000361898.6; NM_032793.5; NP_116182.2 [Q8NA29-2]
UCSCiuc001ceu.5, human [Q8NA29-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...CTDi		84879
DisGeNETi84879

GeneCards: human genes, protein and diseases

More...GeneCardsi		MFSD2A
HGNCiHGNC:25897, MFSD2A
HPAiENSG00000168389, Tissue enhanced (epididymis, liver)
MalaCardsiMFSD2A
MIMi614397, gene
616486, phenotype
neXtProtiNX_Q8NA29
OpenTargetsiENSG00000168389
Orphaneti2512, Autosomal recessive primary microcephaly
PharmGKBiPA165751549
VEuPathDBiHostDB:ENSG00000168389

GenAtlas: human gene database

More...GenAtlasi		Search...

Phylogenomic databases

eggNOGiKOG4830, Eukaryota
GeneTreeiENSGT00390000005318
HOGENOMiCLU_027408_6_1_1
InParanoidiQ8NA29
OMAiGLYTAWM
OrthoDBi827101at2759
PhylomeDBiQ8NA29
TreeFamiTF331194

Enzyme and pathway databases

PathwayCommonsiQ8NA29
ReactomeiR-HSA-1483191, Synthesis of PC
SignaLinkiQ8NA29

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

More...BioGRID-ORCSi		84879, 11 hits in 1063 CRISPR screens

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

More...ChiTaRSi		MFSD2A, human

The Gene Wiki collection of pages on human genes and proteins

More...GeneWikii		MFSD2

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

More...GenomeRNAii		84879
PharosiQ8NA29, Tbio

Protein Ontology

More...PROi		PR:Q8NA29
RNActiQ8NA29, protein

The Stanford Online Universal Resource for Clones and ESTs

More...SOURCEi		Search...

Gene expression databases

BgeeiENSG00000168389, Expressed in placenta and 190 other tissues
ExpressionAtlasiQ8NA29, baseline and differential
GenevisibleiQ8NA29, HS

Family and domain databases

Gene3Di1.20.1250.20, 2 hits
InterProiView protein in InterPro
IPR039672, MFS_2
IPR036259, MFS_trans_sf
PANTHERiPTHR11328, PTHR11328, 1 hit
SUPFAMiSSF103473, SSF103473, 1 hit

MobiDB: a database of protein disorder and mobility annotations

More...MobiDBi		Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the 'Entry information' section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiNLS1_HUMAN
<p>This subsection of the 'Entry information' section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called 'Primary (citable) accession number'.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: Q8NA29
Secondary accession number(s): A8K675
, Q6UWU5, Q96F59, Q9BRC8
<p>This subsection of the 'Entry information' section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification ('Last modified'). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated 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.
<p>This subsection of the 'Entry information' section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>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.

<p>This section contains any relevant information that doesn't fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

Reference proteome

Documents

  1. Human chromosome 1
    Human chromosome 1: entries, gene names and cross-references to MIM
  2. Human entries with genetic variants
    List of human entries with genetic variants
  3. Human variants curated from literature reports
    Index of human variants curated from literature reports
  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
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