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Aliases for MFSD1 Gene

Aliases for MFSD1 Gene

  • Major Facilitator Superfamily Domain Containing 1 2 3 5
  • Smooth Muscle Cell-Associated Protein 4 3 4
  • SMAP4 3 4
  • Major Facilitator Superfamily Domain-Containing Protein 1 3
  • SMAP-4 4

External Ids for MFSD1 Gene

Previous GeneCards Identifiers for MFSD1 Gene

  • GC03P160003
  • GC03P158449
  • GC03P155915

Summaries for MFSD1 Gene

GeneCards Summary for MFSD1 Gene

MFSD1 (Major Facilitator Superfamily Domain Containing 1) is a Protein Coding gene. Diseases associated with MFSD1 include Pleomorphic Adenoma Carcinoma and Gastrointestinal System Benign Neoplasm.

No data available for Entrez Gene Summary , CIViC summary , UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for MFSD1 Gene

Genomics for MFSD1 Gene

Regulatory Elements for MFSD1 Gene

Enhancers for MFSD1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH03G158767 2.3 VISTA FANTOM5 Ensembl ENCODE dbSUPER 12.6 +39.3 39285 8.2 PKNOX1 FOXA2 ARNT FEZF1 TCF12 GATA2 CBX5 FOS KLF13 ZNF263 ENSG00000240207 ENSG00000271778 RARRES1 MFSD1 MLF1 ENSG00000272247 GFM1 LXN PIR51214 ENSG00000243675
GH03G158800 1.4 ENCODE dbSUPER 17.8 +69.8 69823 2.4 HDGF PKNOX1 MLX CREB3L1 ARNT AGO1 WRNIP1 ARID4B SIN3A DMAP1 ENSG00000272247 MFSD1 ENSG00000271778 ENSG00000240207 RARRES1 ENSG00000272440 RSRC1 GFM1 PIR50004
GH03G158700 1.1 ENCODE dbSUPER 19.1 -29.8 -29813 4.3 TAL1 BACH1 BMI1 ZBTB40 ZNF664 ARID3A CBX5 GATA2 EED ETV6 GFM1 ENSG00000240207 MFSD1 LXN RARRES1 MLF1 ENSG00000272440 PIR52872
GH03G158709 1.6 FANTOM5 Ensembl ENCODE dbSUPER 12.7 -20.5 -20463 5.3 SIN3A GATA2 SCRT2 FOS IKZF2 JUNB ZNF592 CREB3 MAFF ZNF589 ENSG00000240207 GFM1 MLF1 LXN RARRES1 MFSD1 ENSG00000272247 PIR52872 ENSG00000272440
GH03G158715 1.9 FANTOM5 Ensembl ENCODE dbSUPER 10.6 -10.0 -10048 12.8 PKNOX1 ARNT SIN3A FEZF1 YY1 ZNF143 ZNF548 FOS ZNF263 JUNB ENSG00000240207 GFM1 MLF1 LXN MFSD1 ENSG00000243675 ENSG00000272247 PIR52872
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around MFSD1 on UCSC Golden Path with GeneCards custom track

Promoters for MFSD1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000161036 302 1001 CTCF SUZ12 MAX SIN3A RBBP5 CHAMP1 E2F1 ELK1 POLR2A E2F6

Genomic Location for MFSD1 Gene

158,732,198 bp from pter
158,829,719 bp from pter
97,522 bases
Plus strand

Genomic View for MFSD1 Gene

Genes around MFSD1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
MFSD1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for MFSD1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for MFSD1 Gene

Proteins for MFSD1 Gene

  • Protein details for MFSD1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Major facilitator superfamily domain-containing protein 1
    Protein Accession:
    Secondary Accessions:
    • B4DGJ8
    • B4DMR8
    • B4DU49
    • B4DWU1
    • C9JS94
    • J3KQL7
    • Q05C07
    • Q5XKJ1
    • Q8IVS1
    • Q8IXG4
    • Q9H7X1

    Protein attributes for MFSD1 Gene

    465 amino acids
    Molecular mass:
    51209 Da
    Quaternary structure:
    No Data Available
    • Sequence=AAH30542.1; Type=Erroneous translation; Note=Wrong choice of CDS.; Evidence={ECO:0000305}; Sequence=AAN76517.2; Type=Miscellaneous discrepancy; Note=Aberrant splicing.; Evidence={ECO:0000305}; Sequence=BAB20269.1; Type=Frameshift; Positions=289, 296, 305; Evidence={ECO:0000305}; Sequence=BAG57809.1; Type=Erroneous translation; Note=Wrong choice of CDS.; Evidence={ECO:0000305}; Sequence=BAG59980.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Alternative splice isoforms for MFSD1 Gene

neXtProt entry for MFSD1 Gene

Post-translational modifications for MFSD1 Gene

  • Ubiquitination at posLast=249249, posLast=255255, and Lys460
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for MFSD1 Gene

Domains & Families for MFSD1 Gene

Protein Domains for MFSD1 Gene


Suggested Antigen Peptide Sequences for MFSD1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the major facilitator superfamily.
  • Belongs to the major facilitator superfamily.
genes like me logo Genes that share domains with MFSD1: view

No data available for Gene Families for MFSD1 Gene

Function for MFSD1 Gene

genes like me logo Genes that share phenotypes with MFSD1: view

Animal Model Products

CRISPR Products

miRNA for MFSD1 Gene

miRTarBase miRNAs that target MFSD1

Inhibitory RNA Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for MFSD1 Gene

Localization for MFSD1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for MFSD1 Gene

Membrane; Multi-pass membrane protein.

Subcellular locations from

Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for MFSD1 gene
Compartment Confidence
plasma membrane 3

Gene Ontology (GO) - Cellular Components for MFSD1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with MFSD1: view

Pathways & Interactions for MFSD1 Gene

SuperPathways for MFSD1 Gene

No Data Available

Gene Ontology (GO) - Biological Process for MFSD1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0055085 transmembrane transport IEA --
genes like me logo Genes that share ontologies with MFSD1: view

No data available for Pathways by source and SIGNOR curated interactions for MFSD1 Gene

Drugs & Compounds for MFSD1 Gene

No Compound Related Data Available

Transcripts for MFSD1 Gene

Unigene Clusters for MFSD1 Gene

Major facilitator superfamily domain containing 1:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Alternative Splicing Database (ASD) splice patterns (SP) for MFSD1 Gene

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

Relevant External Links for MFSD1 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for MFSD1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for MFSD1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for MFSD1 Gene

This gene is overexpressed in Whole Blood (x4.3).

Protein differential expression in normal tissues from HIPED for MFSD1 Gene

This gene is overexpressed in Nasal epithelium (44.5) and Platelet (7.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for MFSD1 Gene

NURSA nuclear receptor signaling pathways regulating expression of MFSD1 Gene:


SOURCE GeneReport for Unigene cluster for MFSD1 Gene:


Evidence on tissue expression from TISSUES for MFSD1 Gene

  • Nervous system(4.9)
  • Lung(4.5)
  • Intestine(4.3)
  • Heart(4.2)
  • Kidney(2.2)
genes like me logo Genes that share expression patterns with MFSD1: view

Primer Products

No data available for Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for MFSD1 Gene

Orthologs for MFSD1 Gene

This gene was present in the common ancestor of animals.

Orthologs for MFSD1 Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia MFSD1 34 35
  • 99.35 (n)
(Canis familiaris)
Mammalia MFSD1 34 35
  • 91.83 (n)
(Bos Taurus)
Mammalia MFSD1 34 35
  • 90.25 (n)
(Ornithorhynchus anatinus)
Mammalia MFSD1 35
  • 90 (a)
(Rattus norvegicus)
Mammalia Mfsd1 34
  • 85.7 (n)
(Mus musculus)
Mammalia Mfsd1 34 16 35
  • 85.49 (n)
(Monodelphis domestica)
Mammalia MFSD1 35
  • 72 (a)
(Gallus gallus)
Aves MFSD1 34 35
  • 74.96 (n)
(Anolis carolinensis)
Reptilia MFSD1 35
  • 81 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia mfsd1 34
  • 71.26 (n)
(Danio rerio)
Actinopterygii mfsd1 34
  • 67.4 (n)
CABZ01033130.1 35
  • 61 (a)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP009523 34
  • 56.26 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG12194 34 35
  • 55.58 (n)
CG8602 35
  • 48 (a)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.8860 35
  • 64 (a)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.7889 34
Species where no ortholog for MFSD1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for MFSD1 Gene

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

Paralogs for MFSD1 Gene Pseudogenes for MFSD1 Gene

genes like me logo Genes that share paralogs with MFSD1: view

No data available for Paralogs for MFSD1 Gene

Variants for MFSD1 Gene

Sequence variations from dbSNP and Humsavar for MFSD1 Gene

SNP ID Clin Chr 03 pos Sequence Context AA Info Type
rs1000011986 -- 158,807,217(+) GATAT(A/T)ATCCA intron-variant
rs1000182979 -- 158,807,998(+) AGGGA(C/T)CCAGA intron-variant
rs1000276334 -- 158,800,096(+) TTTCA(C/T)CATGT upstream-variant-2KB
rs1000418555 -- 158,823,839(+) AAACC(A/G)CACCT intron-variant
rs1000524773 -- 158,814,417(+) CCAGG(A/G)TCAAG intron-variant

Structural Variations from Database of Genomic Variants (DGV) for MFSD1 Gene

Variant ID Type Subtype PubMed ID
nsv1004124 CNV gain 25217958
nsv1006146 CNV loss 25217958
nsv1014255 CNV gain 25217958
nsv592123 CNV loss 21841781

Variation tolerance for MFSD1 Gene

Residual Variation Intolerance Score: 12.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 5.61; 72.52% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for MFSD1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for MFSD1 Gene

Disorders for MFSD1 Gene

MalaCards: The human disease database

(2) MalaCards diseases for MFSD1 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
pleomorphic adenoma carcinoma
  • carcinoma ex pleomorphic adenoma
gastrointestinal system benign neoplasm
- elite association - COSMIC cancer census association via MalaCards
Search MFSD1 in MalaCards View complete list of genes associated with diseases

Relevant External Links for MFSD1

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
genes like me logo Genes that share disorders with MFSD1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for MFSD1 Gene

Publications for MFSD1 Gene

  1. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4 64
  2. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4 64
  3. Genome-wide association study of chronic periodontitis in a general German population. (PMID: 24024966) Teumer A. … Kocher T. (J. Clin. Periodontol. 2013) 3 64
  4. Insights into RNA biology from an atlas of mammalian mRNA-binding proteins. (PMID: 22658674) Castello A. … Hentze M.W. (Cell 2012) 3 64
  5. Characterization of the CLEAR network reveals an integrated control of cellular clearance pathways. (PMID: 21752829) Palmieri M. … Ballabio A. (Hum. Mol. Genet. 2011) 3 64

Products for MFSD1 Gene

Sources for MFSD1 Gene

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