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Entry version 136 (26 Feb 2020)
Sequence version 2 (23 Jan 2007)
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Protein

Major facilitator superfamily domain-containing protein 1

Gene

MFSD1

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

Annotation score:3 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 transcript 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

<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 - Biological processi

<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 processTransport

<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:
Major facilitator superfamily domain-containing protein 1
Alternative name(s):
Smooth muscle cell-associated protein 4
Short name:
SMAP-4
<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:MFSD1
Synonyms:SMAP4
ORF Names:UG0581B09
<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 lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<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 3

Organism-specific databases

Human Gene Nomenclature Database

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HGNCi
HGNC:25874 MFSD1

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q9H3U5

<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 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>Transmembranei39 – 59HelicalSequence analysisAdd BLAST21
Transmembranei83 – 103HelicalSequence analysisAdd BLAST21
Transmembranei113 – 133HelicalSequence analysisAdd BLAST21
Transmembranei135 – 155HelicalSequence analysisAdd BLAST21
Transmembranei213 – 233HelicalSequence analysisAdd BLAST21
Transmembranei266 – 286HelicalSequence analysisAdd BLAST21
Transmembranei303 – 323HelicalSequence analysisAdd BLAST21
Transmembranei331 – 351HelicalSequence analysisAdd BLAST21
Transmembranei361 – 381HelicalSequence analysisAdd BLAST21
Transmembranei392 – 412HelicalSequence analysisAdd BLAST21
Transmembranei418 – 438HelicalSequence analysisAdd BLAST21

Keywords - Cellular componenti

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

Organism-specific databases

Open Targets

More...
OpenTargetsi
ENSG00000118855

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA134947356

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...
Pharosi
Q9H3U5 Tdark

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
MFSD1

Domain mapping of disease mutations (DMDM)

More...
DMDMi
124015158

<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_00002733821 – 465Major facilitator superfamily domain-containing protein 1Add BLAST465

Proteomic databases

jPOST - Japan Proteome Standard Repository/Database

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jPOSTi
Q9H3U5

MassIVE - Mass Spectrometry Interactive Virtual Environment

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MassIVEi
Q9H3U5

MaxQB - The MaxQuant DataBase

More...
MaxQBi
Q9H3U5

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

More...
PaxDbi
Q9H3U5

PeptideAtlas

More...
PeptideAtlasi
Q9H3U5

PRoteomics IDEntifications database

More...
PRIDEi
Q9H3U5

ProteomicsDB: a multi-organism proteome resource

More...
ProteomicsDBi
11457
80759 [Q9H3U5-1]
80760 [Q9H3U5-2]
80761 [Q9H3U5-3]
80762 [Q9H3U5-4]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
Q9H3U5

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

More...
PhosphoSitePlusi
Q9H3U5

<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

Gene expression databases

Bgee dataBase for Gene Expression Evolution

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Bgeei
ENSG00000118855 Expressed in visceral pleura and 224 other tissues

ExpressionAtlas, Differential and Baseline Expression

More...
ExpressionAtlasi
Q9H3U5 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...
Genevisiblei
Q9H3U5 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
HPA057924
HPA065858

<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

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

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BioGridi
122263, 2 interactors

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000403117

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...
RNActi
Q9H3U5 protein

<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

<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

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eggNOGi
KOG4686 Eukaryota
COG0477 LUCA

Ensembl GeneTree

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GeneTreei
ENSGT00390000011700

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...
HOGENOMi
CLU_2621386_0_0_1

InParanoid: Eukaryotic Ortholog Groups

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InParanoidi
Q9H3U5

Identification of Orthologs from Complete Genome Data

More...
OMAi
YYSAIFP

Database of Orthologous Groups

More...
OrthoDBi
941048at2759

Database for complete collections of gene phylogenies

More...
PhylomeDBi
Q9H3U5

TreeFam database of animal gene trees

More...
TreeFami
TF323603

Family and domain databases

Integrated resource of protein families, domains and functional sites

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InterProi
View protein in InterPro
IPR011701 MFS
IPR020846 MFS_dom
IPR036259 MFS_trans_sf

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF07690 MFS_1, 1 hit

Superfamily database of structural and functional annotation

More...
SUPFAMi
SSF103473 SSF103473, 1 hit

PROSITE; a protein domain and family database

More...
PROSITEi
View protein in PROSITE
PS50850 MFS, 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 (6+)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 6 <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 6 described isoforms and 9 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: Q9H3U5-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the <div> <p><b>What is the canonical sequence?</b><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
MEEEDEEARA LLAGGPDEAD RGAPAAPGAL PALCDPSRLA HRLLVLLLMC
60 70 80 90 100
FLGFGSYFCY DNPAALQTQV KRDMQVNTTK FMLLYAWYSW PNVVLCFFGG
110 120 130 140 150
FLIDRVFGIR WGTIIFSCFV CIGQVVFALG GIFNAFWLME FGRFVFGIGG
160 170 180 190 200
ESLAVAQNTY AVSWFKGKEL NLVFGLQLSM ARIGSTVNMN LMGWLYSKIE
210 220 230 240 250
ALLGSAGHTT LGITLMIGGI TCILSLICAL ALAYLDQRAE RILHKEQGKT
260 270 280 290 300
GEVIKLTDVK DFSLPLWLIF IICVCYYVAV FPFIGLGKVF FTEKFGFSSQ
310 320 330 340 350
AASAINSVVY VISAPMSPVF GLLVDKTGKN IIWVLCAVAA TLVSHMMLAF
360 370 380 390 400
TMWNPWIAMC LLGLSYSLLA CALWPMVAFV VPEHQLGTAY GFMQSIQNLG
410 420 430 440 450
LAIISIIAGM ILDSRGYLFL EVFFIACVSL SLLSVVLLYL VNRAQGGNLN
460
YSARQREEIK FSHTE
Length:465
Mass (Da):51,209
Last modified:January 23, 2007 - v2
<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:i24D53BDE6D1CCA26
GO
Isoform 2 (identifier: Q9H3U5-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     73-78: DMQVNT → MGHNHF
     79-465: Missing.

Note: May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.Curated
Show »
Length:78
Mass (Da):8,458
Checksum:iD51DAB16AA4142A8
GO
Isoform 3 (identifier: Q9H3U5-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     55-110: GSYFCYDNPAALQTQVKRDMQVNTTKFMLLYAWYSWPNVVLCFFGGFLIDRVFGIR → AIFAMIILLPFRLKLDE

Show »
Length:426
Mass (Da):46,619
Checksum:i067A11DF7E19FF70
GO
Isoform 4 (identifier: Q9H3U5-4) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-73: Missing.

Show »
Length:392
Mass (Da):43,378
Checksum:i0EEA53DEA5449FD4
GO
Isoform 5 (identifier: Q9H3U5-5) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-1: M → MGVALRDLPGRHVSSRSHVTAVLTVFHGRCFLPGFGVVTTFPSPSPAGAM
     55-110: GSYFCYDNPAALQTQVKRDMQVNTTKFMLLYAWYSWPNVVLCFFGGFLIDRVFGIR → AIFAMIILLPFRLKLNE

Show »
Length:475
Mass (Da):51,691
Checksum:iD8BD41951D5D8F71
GO
Isoform 6 (identifier: Q9H3U5-6) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-1: M → MGVALRDLPGRHVSSRSHVTAVLTVFHGRCFLPGFGVVTTFPSPSPAGAM

Show »
Length:514
Mass (Da):56,281
Checksum:i01FBF7179429E6AD
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 9 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
C9JZW5C9JZW5_HUMAN
Major facilitator superfamily domai...
MFSD1
161Annotation 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>
H7C5U3H7C5U3_HUMAN
Major facilitator superfamily domai...
MFSD1
64Annotation 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>
H7C593H7C593_HUMAN
Major facilitator superfamily domai...
MFSD1
78Annotation 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>
A0A494C105A0A494C105_HUMAN
Major facilitator superfamily domai...
MFSD1
426Annotation 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>
C9J5G6C9J5G6_HUMAN
Major facilitator superfamily domai...
MFSD1
128Annotation 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>
C9JBA3C9JBA3_HUMAN
Major facilitator superfamily domai...
MFSD1
116Annotation 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>
H7C4F4H7C4F4_HUMAN
Major facilitator superfamily domai...
MFSD1
193Annotation 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>
C9JAC3C9JAC3_HUMAN
Major facilitator superfamily domai...
MFSD1
36Annotation 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>
C9JCH3C9JCH3_HUMAN
Major facilitator superfamily domai...
MFSD1
85Annotation 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>

<p>This subsection of the 'Sequence' section reports difference(s) between the protein sequence shown in the UniProtKB entry and other available protein sequences derived from the same gene.<p><a href='/help/sequence_caution' target='_top'>More...</a></p>Sequence cautioni

The sequence AAH30542 differs from that shown. Reason: Erroneous translation. Wrong choice of CDS.Curated
The sequence AAN76517 differs from that shown. Aberrant splicing.Curated
The sequence BAB20269 differs from that shown. Reason: Frameshift.Curated
The sequence BAG57809 differs from that shown. Reason: Erroneous translation. Wrong choice of CDS.Curated
The sequence BAG59980 differs from that shown. Reason: Erroneous initiation.Curated

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 conflicti275C → R in BAB20269 (Ref. 1) Curated1

Natural variant

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_03013824P → S1 PublicationCorresponds to variant dbSNP:rs28364680Ensembl.1
Natural variantiVAR_030139168K → E1 PublicationCorresponds to variant dbSNP:rs17854200Ensembl.1
Natural variantiVAR_030140220I → V2 PublicationsCorresponds to variant dbSNP:rs3765083Ensembl.1
Natural variantiVAR_059466271I → T. Corresponds to variant dbSNP:rs11551240Ensembl.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.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_0375781 – 73Missing in isoform 4. 1 PublicationAdd BLAST73
Alternative sequenceiVSP_0476671M → MGVALRDLPGRHVSSRSHVT AVLTVFHGRCFLPGFGVVTT FPSPSPAGAM in isoform 5 and isoform 6. Curated1
Alternative sequenceiVSP_03757955 – 110GSYFC…VFGIR → AIFAMIILLPFRLKLDE in isoform 3. 1 PublicationAdd BLAST56
Alternative sequenceiVSP_04766855 – 110GSYFC…VFGIR → AIFAMIILLPFRLKLNE in isoform 5. CuratedAdd BLAST56
Alternative sequenceiVSP_02253773 – 78DMQVNT → MGHNHF in isoform 2. 2 Publications6
Alternative sequenceiVSP_02253879 – 465Missing in isoform 2. 2 PublicationsAdd BLAST387

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
AB014732 mRNA Translation: BAB20269.1 Frameshift.
AF351617 mRNA Translation: AAN76517.2 Sequence problems.
AK024215 mRNA Translation: BAB14852.1
AK294628 mRNA Translation: BAG57809.1 Sequence problems.
AK297593 mRNA Translation: BAG59980.1 Different initiation.
AK300497 mRNA Translation: BAG62211.1
AK301680 mRNA Translation: BAG63153.1
AC080013 Genomic DNA No translation available.
AC128694 Genomic DNA No translation available.
BC030542 mRNA Translation: AAH30542.1 Sequence problems.
BC042197 mRNA Translation: AAH42197.1

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS3185.2 [Q9H3U5-1]
CCDS54666.1 [Q9H3U5-3]

NCBI Reference Sequences

More...
RefSeqi
NP_001161375.1, NM_001167903.1
NP_001276335.1, NM_001289406.1
NP_001276336.1, NM_001289407.1 [Q9H3U5-4]
NP_073573.2, NM_022736.2 [Q9H3U5-1]
XP_006713793.1, XM_006713730.2 [Q9H3U5-5]

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000264266; ENSP00000264266; ENSG00000118855 [Q9H3U5-1]
ENST00000392813; ENSP00000376560; ENSG00000118855 [Q9H3U5-5]
ENST00000415822; ENSP00000403117; ENSG00000118855 [Q9H3U5-1]
ENST00000480292; ENSP00000419467; ENSG00000118855 [Q9H3U5-2]
ENST00000484166; ENSP00000417950; ENSG00000118855 [Q9H3U5-2]
ENST00000622669; ENSP00000484175; ENSG00000118855 [Q9H3U5-6]
ENST00000673067; ENSP00000500670; ENSG00000118855 [Q9H3U5-6]

Database of genes from NCBI RefSeq genomes

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GeneIDi
64747

KEGG: Kyoto Encyclopedia of Genes and Genomes

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KEGGi
hsa:64747

UCSC genome browser

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UCSCi
uc003fcl.3 human [Q9H3U5-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

<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
AB014732 mRNA Translation: BAB20269.1 Frameshift.
AF351617 mRNA Translation: AAN76517.2 Sequence problems.
AK024215 mRNA Translation: BAB14852.1
AK294628 mRNA Translation: BAG57809.1 Sequence problems.
AK297593 mRNA Translation: BAG59980.1 Different initiation.
AK300497 mRNA Translation: BAG62211.1
AK301680 mRNA Translation: BAG63153.1
AC080013 Genomic DNA No translation available.
AC128694 Genomic DNA No translation available.
BC030542 mRNA Translation: AAH30542.1 Sequence problems.
BC042197 mRNA Translation: AAH42197.1
CCDSiCCDS3185.2 [Q9H3U5-1]
CCDS54666.1 [Q9H3U5-3]
RefSeqiNP_001161375.1, NM_001167903.1
NP_001276335.1, NM_001289406.1
NP_001276336.1, NM_001289407.1 [Q9H3U5-4]
NP_073573.2, NM_022736.2 [Q9H3U5-1]
XP_006713793.1, XM_006713730.2 [Q9H3U5-5]

3D structure databases

Database of comparative protein structure models

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ModBasei
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SWISS-MODEL Interactive Workspace

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SWISS-MODEL-Workspacei
Submit a new modelling project...

Protein-protein interaction databases

BioGridi122263, 2 interactors
STRINGi9606.ENSP00000403117

PTM databases

iPTMnetiQ9H3U5
PhosphoSitePlusiQ9H3U5

Polymorphism and mutation databases

BioMutaiMFSD1
DMDMi124015158

Proteomic databases

jPOSTiQ9H3U5
MassIVEiQ9H3U5
MaxQBiQ9H3U5
PaxDbiQ9H3U5
PeptideAtlasiQ9H3U5
PRIDEiQ9H3U5
ProteomicsDBi11457
80759 [Q9H3U5-1]
80760 [Q9H3U5-2]
80761 [Q9H3U5-3]
80762 [Q9H3U5-4]

Genome annotation databases

EnsembliENST00000264266; ENSP00000264266; ENSG00000118855 [Q9H3U5-1]
ENST00000392813; ENSP00000376560; ENSG00000118855 [Q9H3U5-5]
ENST00000415822; ENSP00000403117; ENSG00000118855 [Q9H3U5-1]
ENST00000480292; ENSP00000419467; ENSG00000118855 [Q9H3U5-2]
ENST00000484166; ENSP00000417950; ENSG00000118855 [Q9H3U5-2]
ENST00000622669; ENSP00000484175; ENSG00000118855 [Q9H3U5-6]
ENST00000673067; ENSP00000500670; ENSG00000118855 [Q9H3U5-6]
GeneIDi64747
KEGGihsa:64747
UCSCiuc003fcl.3 human [Q9H3U5-1]

Organism-specific databases

Comparative Toxicogenomics Database

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CTDi
64747

GeneCards: human genes, protein and diseases

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GeneCardsi
MFSD1
HGNCiHGNC:25874 MFSD1
HPAiHPA057924
HPA065858
neXtProtiNX_Q9H3U5
OpenTargetsiENSG00000118855
PharmGKBiPA134947356

GenAtlas: human gene database

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GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG4686 Eukaryota
COG0477 LUCA
GeneTreeiENSGT00390000011700
HOGENOMiCLU_2621386_0_0_1
InParanoidiQ9H3U5
OMAiYYSAIFP
OrthoDBi941048at2759
PhylomeDBiQ9H3U5
TreeFamiTF323603

Miscellaneous databases

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

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ChiTaRSi
MFSD1 human

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

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GenomeRNAii
64747
PharosiQ9H3U5 Tdark

Protein Ontology

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PROi
PR:Q9H3U5
RNActiQ9H3U5 protein

Gene expression databases

BgeeiENSG00000118855 Expressed in visceral pleura and 224 other tissues
ExpressionAtlasiQ9H3U5 baseline and differential
GenevisibleiQ9H3U5 HS

Family and domain databases

InterProiView protein in InterPro
IPR011701 MFS
IPR020846 MFS_dom
IPR036259 MFS_trans_sf
PfamiView protein in Pfam
PF07690 MFS_1, 1 hit
SUPFAMiSSF103473 SSF103473, 1 hit
PROSITEiView protein in PROSITE
PS50850 MFS, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

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ProtoNeti
Search...

MobiDB: a database of protein disorder and mobility annotations

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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 nameiMFSD1_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: Q9H3U5
Secondary accession number(s): B4DGJ8
, B4DMR8, B4DU49, B4DWU1, C9JS94, J3KQL7, Q05C07, Q5XKJ1, Q8IVS1, Q8IXG4, Q9H7X1
<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: January 23, 2007
Last modified: February 26, 2020
This is version 136 of the entry and version 2 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. SIMILARITY comments
    Index of protein domains and families
  2. Human chromosome 3
    Human chromosome 3: entries, gene names and cross-references to MIM
  3. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  4. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
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