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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.

Additional gene information for MFSD1 Gene

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
GH03H158767 2.2 VISTA FANTOM5 Ensembl ENCODE dbSUPER 12.6 +39.3 39285 8.2 FOXA2 RARA TCF12 GATA2 FOS ATF7 CREM SP5 NR2F2 ZNF592 ENSG00000240207 ENSG00000271778 MFSD1 RARRES1 MLF1 ENSG00000272247 GFM1 LXN PIR51214 ENSG00000243675
GH03H158800 1.4 ENCODE dbSUPER 17.8 +69.8 69823 2.4 HDGF PKNOX1 MLX ARNT ARID4B SIN3A DMAP1 ZNF2 YY1 ZNF143 ENSG00000272247 MFSD1 ENSG00000271778 ENSG00000240207 RARRES1 ENSG00000272440 ENSG00000243675 GFM1 PIR50004
GH03H158709 1.6 FANTOM5 Ensembl ENCODE dbSUPER 12.7 -20.5 -20463 5.3 JUN ZNF175 MAX BATF RAD21 ZIC2 FOSL1 ZNF316 POLR2A FOXK2 ENSG00000240207 GFM1 MLF1 LXN MFSD1 RARRES1 ENSG00000272247 PIR52872 ENSG00000272440
GH03H158715 1.9 FANTOM5 Ensembl ENCODE dbSUPER 10.6 -10.0 -10048 12.8 PKNOX1 ARNT SIN3A FEZF1 YY1 ZNF121 ZNF143 ZNF548 FOS TSHZ1 ENSG00000240207 GFM1 MLF1 LXN MFSD1 ENSG00000272247 PIR52872
GH03H158791 1.4 Ensembl ENCODE dbSUPER 11.9 +59.2 59165 0.7 TBP ATF1 ARID4B SIN3A BRCA1 DNMT3B RAD21 CHAMP1 RFX5 ZNF143 MFSD1 RARRES1 ENSG00000240207 LXN GFM1 MLF1 LOC100996447 ENSG00000271778 ENSG00000272247
- 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 RAD21 CHAMP1 E2F1 POLR2A ELK1 E2F6

Genomic Locations for MFSD1 Gene

Genomic Locations for MFSD1 Gene
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 Lys249, posLast=255255, and Lys460
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for MFSD1 Gene

Domains & Families for MFSD1 Gene

Gene Families for MFSD1 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins
  • Predicted membrane proteins

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

Function for MFSD1 Gene

Phenotypes From GWAS Catalog 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

Clone 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

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nucleoli (2)
  • Nucleus (2)
See all subcellular structures

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

Clone 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

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 33 34
  • 99.35 (n)
(Canis familiaris)
Mammalia MFSD1 33 34
  • 91.83 (n)
(Bos Taurus)
Mammalia MFSD1 33 34
  • 90.25 (n)
(Ornithorhynchus anatinus)
Mammalia MFSD1 34
  • 90 (a)
(Rattus norvegicus)
Mammalia Mfsd1 33
  • 85.7 (n)
(Mus musculus)
Mammalia Mfsd1 33 16 34
  • 85.49 (n)
(Monodelphis domestica)
Mammalia MFSD1 34
  • 72 (a)
(Gallus gallus)
Aves MFSD1 33 34
  • 74.96 (n)
(Anolis carolinensis)
Reptilia MFSD1 34
  • 81 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia mfsd1 33
  • 71.26 (n)
(Danio rerio)
Actinopterygii mfsd1 33
  • 67.4 (n)
CABZ01033130.1 34
  • 61 (a)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP009523 33
  • 56.26 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG12194 33 34
  • 55.58 (n)
CG8602 34
  • 48 (a)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.8860 34
  • 64 (a)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.7889 33
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
nsv592123 CNV loss 21841781
nsv1014255 CNV gain 25217958
nsv1006146 CNV loss 25217958
nsv1004124 CNV gain 25217958

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

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 (Nature genetics 2004) 3 4 60
  2. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 60
  3. Genome-wide association study of chronic periodontitis in a general German population. (PMID: 24024966) Teumer A … Kocher T (Journal of clinical periodontology 2013) 3 60
  4. Insights into RNA biology from an atlas of mammalian mRNA-binding proteins. (PMID: 22658674) Castello A … Hentze MW (Cell 2012) 3 60
  5. Characterization of the CLEAR network reveals an integrated control of cellular clearance pathways. (PMID: 21752829) Palmieri M … Ballabio A (Human molecular genetics 2011) 3 60

Products for MFSD1 Gene

Sources for MFSD1 Gene

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