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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

MFSD1 Gene

protein-coding GIFtS: 46
GCID: GC03P158449

major facilitator superfamily domain containing 1

Search for MFSD1
in

MalaCards

our new
Human Malady Compendium

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, and/or ¹⁰fRNAdb)
About This Section

Aliases
Major Facilitator Superfamily Domain Containing 1¹ ²		FLJ14153¹
Smooth Muscle Cell-Associated Protein 4² ³		UG0581B09¹
SMAP-4² ³		Major Facilitator Superfamily Domain-Containing Protein 1²
SMAP4² ³

External Ids:	HGNC: 25874¹	Entrez Gene: 64747²	Ensembl: ENSG00000118855⁷	UniProtKB: Q9H3U5³

Export aliases for MFSD1 gene to outside databases

Previous GC identifers: GC03P160003 GC03P155915

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence:

NC_000003.11 NC_018914.1 NT_005612.16

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the MFSD1 gene promoter:
USF1 USF-1:USF-2 POU3F2 (N-Oct-5a) POU3F2 (N-Oct-5b) Nkx2-5 POU3F2 C/EBPalpha RORalpha1 FOXC1 USF-1
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: MFSD1 promoter sequence

Search SABiosciences Chromatin IP Primers for MFSD1

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat MFSD1

Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 3q25.32 Ensembl cytogenetic band: 3q25.32 HGNC cytogenetic band: 3q25.32

MFSD1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
MFSD1 gene location

GeneLoc information about chromosome 3 GeneLoc Exon Structure

GeneLoc location for GC03P158449: view genomic region (about GC identifiers)

Start:	158,449,987 bp from pter	End:	158,547,508 bp from pter
Size:	97,522 bases	Orientation:	plus strand

(According to ¹UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to ²PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: MFSD1_HUMAN, Q9H3U5 (See protein sequence)

Recommended Name: Major facilitator superfamily domain-containing protein 1

Size: 465 amino acids; 51209 Da

Subcellular location: Membrane; Multi-pass membrane protein (Potential)

Sequence caution: Sequence=AAH30542.1; Type=Erroneous translation; Note=Wrong choice of CDS; Sequence=AAN76517.2;

Type=Miscellaneous discrepancy; Note=Aberrant splicing; Sequence=BAB20269.1; Type=Frameshift; Positions=289, 296, 305;

Sequence=BAG57809.1; Type=Erroneous translation; Note=Wrong choice of CDS; Sequence=BAG59980.1; Type=Erroneous

initiation;

Secondary accessions: B4DGJ8 B4DMR8 B4DU49 B4DWU1 Q05C07 Q5XKJ1 Q8IVS1 Q8IXG4 Q9H7X1

Alternative splicing: 4 isoforms: Q9H3U5-1 Q9H3U5-2 Q9H3U5-3 Q9H3U5-4 (May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay)

Explore the universe of human proteins at neXtProt for MFSD1: NX_Q9H3U5

Post-translational modifications:

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_Q9H3U5

MFSD1 Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins (2 alternative transcripts):

NP_001161375.1 NP_073573.2

ENSEMBL proteins:

ENSP00000417414 ENSP00000420699 ENSP00000418055 ENSP00000403117 ENSP00000417950

ENSP00000419467 ENSP00000419281 ENSP00000420816 ENSP00000419708 ENSP00000418503

ENSP00000417163 ENSP00000376560 ENSP00000264266

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	Uscn Proteins for MFSD1

Gene Ontology (GO): 1 cellular component term (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0016021	integral to membrane	IEA	--

MFSD1 for ontologies About GeneDecksing

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(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

MFSD1 for domains About GeneDecksing

3 InterPro domains/families:

IPR011701 MFS

IPR020846 MFS_dom

IPR016196 MFS_dom_general_subst_transpt

Graphical View of Domain Structure for InterPro Entry Q9H3U5

ProtoNet protein and cluster: Q9H3U5

UniProtKB/Swiss-Prot: MFSD1_HUMAN, Q9H3U5

Similarity: Belongs to the major facilitator superfamily

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
About This Section

miRNA Products:		OriGene 3'-UTR Clone: MFSD1 Browse MicroRNA Expression Plasmids
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat MFSD1
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		hsa-miR-561 hsa-miR-1252
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In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MFSD1

1 GenomeRNAi human phenotype for MFSD1:

Decreased viability of wild-ty

(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to ¹UniProtKB, ²MINT, ³I2D, and/or ⁴STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
About This Section

Interactions:

Search SABiosciences Gene Network Central^TM Interacting Genes and Proteins Networks for MFSD1

STRING Interaction Network Preview (showing 4 interactants - click image to see more details)

5 Interacting proteins for MFSD1 (Q9H3U5^{2, 3} ENSP00000264266⁴) via UniProtKB, MINT, STRING, and/or I2D

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
RAB10	P61026³, ENSP00000264710⁴	I2D: score=1 STRING: ENSP00000264710
UBC	ENSP00000344818⁴	STRING: ENSP00000344818
TOMM70A	ENSP00000284320⁴	STRING: ENSP00000284320
TMEM33	ENSP00000264452⁴	STRING: ENSP00000264452
--	Q777C6²	MINT-6770384

About this table

Gene Ontology (GO): 1 biological process term (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0055085	transmembrane transport	IEA	--

MFSD1 for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for MFSD1
Search CenterWatch for drugs/clinical trials and news about MFSD1

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from EMD Millipore,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

REFSEQ mRNAs for MFSD1 gene (2 alternative transcripts):

NM_001167903.1 NM_022736.2

Unigene Cluster for MFSD1:

Major facilitator superfamily domain containing 1

Hs.58663 [show with all ESTs]

Unigene Representative Sequence: NM_022736

18/19 Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 19):

ENST00000486568 ENST00000495318 ENST00000491804 ENST00000465739 ENST00000415822(uc003fcl.2 uc011bow.2 uc003fcm.2 uc003fcn.2)

ENST00000484166 ENST00000480292 ENST00000471266 ENST00000471500 ENST00000474670

ENST00000482835 ENST00000476860 ENST00000489639 ENST00000477743 ENST00000465624

ENST00000465235 ENST00000468409 ENST00000392813

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		hsa-miR-561 hsa-miR-1252
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Additional cDNA sequence:

AB014732.1 AF351617.2 AK023478.1 AK024215.1 AK294628.1 AK297034.1 AK297593.1 AK300497.1

AK301680.1 BC017661.1 BC030542.1 BC042197.1

12 DOTS entries:

DT.100819369 DT.216816 DT.92437916 DT.101981972 DT.100819368 DT.95162712 DT.100666263 DT.100819367

DT.120841416 DT.95162709 DT.99958707 DT.91882091

24/278 AceView cDNA sequences (see all 278):

AA296965 BU608918 BQ002652 AI290204 BM725193 CK905034 BM678207 T96603

AI285140 AF351617 CR603081 BF432681 BF513435 BE465872 AI308913 AI304674

BQ881182 BQ015689 AW102931 BC042197 BF510495 BU607889 BP341430 AA296966

GeneLoc Exon Structure

4 Alternative Splicing Database (ASD) splice patterns (SP) for MFSD1 About this scheme

ExUns:	1a	·	1b	·	1c	^	2	^	3	^	4	^	5	^	6a	·	6b	^	7	^	8	^	9	^	10	^	11	^	12a	·	12b	^	13	^	14	^	15	^	16
SP1:																													-
SP2:									-
SP3:
SP4:

ECgene alternative splicing isoforms for MFSD1

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

MFSD1 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: GATAAATTAA

About this image

MFSD1 expression in embryonic tissues and stem cells

Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine About this table

1 LifeMap In Vivo Development Anatomical Compartment/Cell

Tissue

Anatomical Compartment

Cell

Category (developmental path)

Eye

Inner Nuclear Layer

Mature Horizontal Cells

Horizontal, Retina

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

See MFSD1 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for MFSD1

SOURCE GeneReport for Unigene cluster: Hs.58663

SABiosciences Custom PCR Arrays for MFSD1

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In Situ
Assay Products:

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(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD , ⁵MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or ⁶Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
About This Section

This gene was present in the common ancestor of animals.

Orthologs for MFSD1 gene from 5/22 species (see all 22) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
mouse (Mus musculus)	Mammalia	Mfsd1^{1 , 5}	major facilitator superfamily domain containing 1^{1, 5}	85.49(n)¹ 88.58(a)¹		3 (31.07 cM)⁵ 66868¹ NM_025813.3¹ NP_080089.1¹ 67582768⁵
chicken (Gallus gallus)	Aves	MFSD1¹	major facilitator superfamily domain containing 1	74.96(n) 80.7(a)		425017 NM_001031321.1 NP_001026492.1
lizard (Anolis carolinensis)	Reptilia	MFSD1⁶	--	81(a)	1 ↔ 1	3(14049241-14063146)
zebrafish (Danio rerio)	Actinopterygii	mfsd1¹	major facilitator superfamily domain containing 1	67.55(n) 74.12(a)		641486 NM_001037426.1 NP_001032503.1
fruit fly (Drosophila melanogaster)	Insecta	CG12194¹	CG12194	55.58(n) 54.87(a)		33685 NM_001169402.1 NP_001162873.1

ENSEMBL Gene Tree for MFSD1 (if available)
TreeFam Gene Tree for MFSD1 (if available)

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
About This Section

Paralogs for MFSD1 gene

MFSD1 for paralogs About GeneDecksing

1 Pseudogenes.org Pseudogene for MFSD1
PGOHUM00000237202

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section

SNP ID	Valid	Clinical significance	Chr 3 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs186344725^1,2		--	158517878(+)	`GATGGC/GGTTTC`	2	--	us2k¹		0	--	--	--	--
rs191043625^1,2		--	158517952(+)	`AAAGTG/TCTGGG`	2	--	us2k¹		0	--	--	--	--
rs56333932^1,2		--	158517967(+)	`CAGGCT/GTGAGT`	2	--	us2k¹		1		CSA	1
rs111322838^1,2		--	158517982(+)	`GTGCCC/TGGCCA`	2	--	us2k¹		1		CSA	2
rs79431389^1,2	F,	--	158518073(+)	`TCTATT/GTTTCA`	2	--	us2k¹		1		WA	118
rs6802844^1,2	C,F,A,	--	158518121(+)	`TTGCAT/CATCTC`	2	--	us2k¹		11		NA WA CSA EA	371
rs151291980^1,2		--	158518356(+)	`GTGCCA/GAGGAG`	2	--	us2k¹		0	--	--	--	--
rs139376668^1,2		--	158518594(+)	`CCTTCG/TCTCTC`	2	--	us2k¹		0	--	--	--	--
rs74884236^1,2	C,F,	--	158518621(+)	`TTGGCG/AGCCCA`	2	--	us2k¹		1		WA	118
rs144272132^1,2		--	158518910(+)	`CAGACC/TGAATG`	2	--	us2k¹		0	--	--	--	--

HapMap Linkage Disequilibrium report for MFSD1 (158449987 - 158547508 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV) variations for MFSD1: --

SABiosciences Cancer Mutation PCR Assays

QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing MFSD1

DNA2.0 Custom Variant and Variant Library Synthesis for MFSD1

(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
About This Section

MFSD1 for disorders About MalaCards

MFSD1 for disorders About GeneDecksing

1 disease from the University of Copenhagen DISEASES database for MFSD1:

Salivary gland cancer

Export disorders for MFSD1 gene to outside databases

(in PubMed. Associations of this gene to articles via ¹Entrez Gene, ²UniProtKB/Swiss-Prot, ³HGNC, ⁴GAD, ⁵PharmGKB, ⁶HMDB, ⁷DrugBank, ⁸UniProtKB/TrEMBL, ⁹ Novoseek, and/or ¹⁰fRNAdb)
About This Section

PubMed articles for MFSD1 gene integrated from 9 sources:
(articles sorted by number of sources associating them with MFSD1)

Utopia: connect your pdf to the dynamic
world of online information

The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)^{1, 2} Gerhard D.S....Malek J. (2004)
Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)^{1, 2} Ota T.... Sugano S. (2004)
Ubiquitin ligase substrate identification through qua ntitative proteomics at both the protein and peptide levels. (PubMed id 21987572)¹ Lee K.A....Doedens J.R. (2011)
Mass spectrometric analysis of lysine ubiquitylation r eveals promiscuity at site level. (PubMed id 21139048)¹ Danielsen J.M....Nielsen M.L. (2011)
A proteome-wide, quantitative survey of in vivo ubiqui tylation sites reveals widespread regulatory roles. (PubMed id 21890473)¹ Wagner S.A....Choudhary C. (2011)
Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)¹ Strausberg R.L....Marra M.A. (2002)
Hepatitis C virus core protein interacts with 14-3-3 protein and activates the kinase Raf-1. (PubMed id )² Aoki H.... Hino O. (2000)
Normalization and subtraction: two approaches to facilitate gene discovery. (PubMed id 8889548)¹ Bonaldo M.F.... Soares M.B. (1996)

(in PubMed, OMIM, and NCBI Bookshelf)
About This Section

		AND	OR
Aliases
Free Text

Query String		PubMed OMIM NCBI Bookshelf
	(Note: In FireFox, select the above section and copy using Ctrl-C)

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
About This Section

Entrez Gene: 64747	HGNC: 25874	AceView: FLJ14153	Ensembl:ENSG00000118855	euGenes: HUgn64747
ECgene: MFSD1	H-InvDB: MFSD1

(According to HUGE)
About This Section

(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section

Name	Description
PharmGKB entry for MFSD1	Pharmacogenomics, SNPs, Pathways

Intellectual Property for MFSD1 gene
(Patent information from GeneIP, Licensable technologies from WIS Yeda, Salk, Tufts, IP news from LifeMap Sciences, Inc.)

About This Section

Patent Information for MFSD1 gene:
Search GeneIP for patents involving MFSD1

GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search

(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences),
In Situ Hybridization Assays from
Advanced Cell Diagnostics
About This Section


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	QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat MFSD1
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GeneCards Homepage - Last full update: 19 Mar 2013 - Incrementals: 21 Mar 2013 , 15 Apr 2013 , 26 Apr 2013

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Category			VWF (GIFTS: 73) von Willebrand factor
GIFtS Group

The GeneCards human gene database gene index: 1 3 5 6 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

The GeneCards Human Gene Database

Developed at the Crown Human Genome Center, Department of Molecular Genetics, the Weizmann Institute of Science

Hot genes Disease genes MFSD1 gene at Home site.

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MFSD1 Gene

major facilitator superfamily domain containing 1

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MFSD1 Gene

major facilitator superfamily domain containing 1

Aliasesfor MFSD1 gene

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Genomic Viewsfor MFSD1 gene

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Protein Domains /Familiesfor MFSD1 gene

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