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UniProtKB - Q8NA29 (NLS1_HUMAN)

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 (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

<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

  • fatty acid transmembrane transporter activity Source: BHF-UCL
  • lysophospholipid transporter activity Source: BHF-UCL
  • phospholipid transporter activity Source: UniProtKB
  • symporter activity Source: UniProtKB
  • transporter activity Source: GO_Central
View the complete GO annotation on QuickGO ...

GO - Biological processi

View the 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

Reactome - a knowledgebase of biological pathways and processes

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

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_and_taxonomy_section">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 1
Short name:
NLS1
Short name:
Sodium-dependent LPC symporter 1
Alternative name(s):
Major facilitator superfamily domain-containing protein 2A
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">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:MFSD2A
Synonyms:MFSD2, NLS1
ORF Names:HMFN0656, PP9177, UNQ300/PRO341
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">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_and_taxonomy_section">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_and_taxonomy_section">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_and_taxonomy_section">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_manual">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

Eukaryotic Pathogen Database Resources

More...EuPathDBi		HostDB:ENSG00000168389.17

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

<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

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
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular_location_section">'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 – 46ExtracellularSequence analysisAdd BLAST46
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular_location_section">'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>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

<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

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
<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_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
<p>This subsection of the <a href="http://www.uniprot.org/manual/pathology_and_biotech_section">'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>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

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

Polymorphism and mutation 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.<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 <a href="http://www.uniprot.org/help/ptm_processing_section">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

<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM/processing</a> section describes post-translational modifications (PTMs). This subsection <strong>complements</strong> the information provided at the sequence level or describes modifications for which <strong>position-specific data is not yet available</strong>.<p><a href='/help/post-translational_modification' target='_top'>More...</a></p>Post-translational modificationi

N-glycosylated.1 Publication

Keywords - PTMi

Glycoprotein

Proteomic databases

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 human proteome resource

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

PTM databases

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 171 organ(s), highest expression level in placenta

CleanEx database of gene expression profiles

More...CleanExi		HS_MFSD2

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		HPA043107

<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_section">'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_section">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Interacts with ERVFRD-1/syncytin-2.1 Publication

Protein-protein interaction databases

Database of interacting proteins

More...DIPi		DIP-47306N

Protein interaction database and analysis system

More...IntActi		Q8NA29, 2 interactors

STRING: functional protein association networks

More...STRINGi		9606.ENSP00000361895

<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

Protein Model Portal of the PSI-Nature Structural Biology Knowledgebase

More...ProteinModelPortali		Q8NA29

Database of comparative protein structure models

More...ModBasei		Search...

MobiDB: a database of protein disorder and mobility annotations

More...MobiDBi		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

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and Domains’ section describes the position of regions of compositional bias within the protein and the particular amino acids that are over-represented within those regions.<p><a href='/help/compbias' target='_top'>More...</a></p>Compositional biasi35 – 38Poly-Lys4

<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
COG2211 LUCA

Ensembl GeneTree

More...GeneTreei		ENSGT00390000005318

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...HOGENOMi		HOG000294186

The HOVERGEN Database of Homologous Vertebrate Genes

More...HOVERGENi		HBG080097

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		Q8NA29

Identification of Orthologs from Complete Genome Data

More...OMAi		YLCSWLA

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

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_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>.<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_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">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 '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
<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

Note: No experimental confirmation available.
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
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>
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>

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_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
<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. The information stored in this subsection is used to automatically construct alternative protein sequence(s) for display.<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]

UniGene gene-oriented nucleotide sequence clusters

More...UniGenei		Hs.655177

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...Ensembli		ENST00000372809; ENSP00000361895; ENSG00000168389 [Q8NA29-1]
ENST00000372811; ENSP00000361898; ENSG00000168389 [Q8NA29-2]

Database of genes from NCBI RefSeq genomes

More...GeneIDi		84879

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...KEGGi		hsa:84879

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]
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

The DNASU plasmid repository

More...DNASUi		84879
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

Comparative Toxicogenomics Database

More...CTDi		84879
DisGeNETi84879
EuPathDBiHostDB:ENSG00000168389.17

GeneCards: human genes, protein and diseases

More...GeneCardsi		MFSD2A
HGNCiHGNC:25897 MFSD2A
HPAiHPA043107
MalaCardsiMFSD2A
MIMi614397 gene
616486 phenotype
neXtProtiNX_Q8NA29
OpenTargetsiENSG00000168389
Orphaneti2512 Autosomal recessive primary microcephaly
PharmGKBiPA165751549

GenAtlas: human gene database

More...GenAtlasi		Search...

Phylogenomic databases

eggNOGiKOG4830 Eukaryota
COG2211 LUCA
GeneTreeiENSGT00390000005318
HOGENOMiHOG000294186
HOVERGENiHBG080097
InParanoidiQ8NA29
OMAiYLCSWLA
OrthoDBi827101at2759
PhylomeDBiQ8NA29
TreeFamiTF331194

Enzyme and pathway databases

ReactomeiR-HSA-1483191 Synthesis of PC

Miscellaneous databases

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

Protein Ontology

More...PROi		PR:Q8NA29

The Stanford Online Universal Resource for Clones and ESTs

More...SOURCEi		Search...

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

ProtoNet; Automatic hierarchical classification of proteins

More...ProtoNeti		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_and_isoforms">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: January 16, 2019
This is version 127 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

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 polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
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