Aliases for MFSD1 Gene

Aliases for MFSD1 Gene

  • Major Facilitator Superfamily Domain Containing 1 2 3 5
  • Major Facilitator Superfamily Domain-Containing Protein 1 3 4
  • Smooth Muscle Cell-Associated Protein 4 3 4
  • SMAP4 3 4
  • 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 Intraductal Breast Neoplasm. An important paralog of this gene is ENSG00000283761.

Additional gene information for MFSD1 Gene

No data available for Entrez Gene Summary , CIViC Summary , UniProtKB/Swiss-Prot Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for MFSD1 Gene

Genomics for MFSD1 Gene

GeneHancer (GH) Regulatory Elements for MFSD1 Gene

Promoters and enhancers for MFSD1 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around MFSD1 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for MFSD1

Top Transcription factor binding sites by QIAGEN in the MFSD1 gene promoter:
  • C/EBPalpha
  • FOXC1
  • Nkx2-5
  • POU3F2
  • POU3F2 (N-Oct-5a)
  • POU3F2 (N-Oct-5b)
  • RORalpha1
  • USF-1
  • USF-1:USF-2
  • USF1

Genomic Locations for MFSD1 Gene

Genomic Locations for MFSD1 Gene
chr3:158,732,198-158,829,719
(GRCh38/hg38)
Size:
97,522 bases
Orientation:
Plus strand
chr3:158,449,987-158,547,508
(GRCh37/hg19)
Size:
97,522 bases
Orientation:
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:
    Q9H3U5-MFSD1_HUMAN
    Recommended name:
    Major facilitator superfamily domain-containing protein 1
    Protein Accession:
    Q9H3U5
    Secondary Accessions:
    • B4DGJ8
    • B4DMR8
    • B4DU49
    • B4DWU1
    • C9JS94
    • J3KQL7
    • Q05C07
    • Q5XKJ1
    • Q8IVS1
    • Q8IXG4
    • Q9H7X1

    Protein attributes for MFSD1 Gene

    Size:
    465 amino acids
    Molecular mass:
    51209 Da
    Quaternary structure:
    No Data Available
    Miscellaneous:
    • [Isoform 2]: May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.
    SequenceCaution:
    • 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; 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, Lys255, 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

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for MFSD1 Gene

GenScript: Design optimal peptide antigens:
  • Smooth muscle cell-associated protein 4 (MFSD1_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q9H3U5

UniProtKB/Swiss-Prot:

MFSD1_HUMAN :
  • Belongs to the major facilitator superfamily.
Family:
  • 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 Models for MFSD1 Gene

MGI Knock Outs for MFSD1:
  • Mfsd1 Mfsd1<tm1a(KOMP)Wtsi>
  • Mfsd1 Mfsd1<tm1d(KOMP)Wtsi>

Animal Model Products

CRISPR Products

miRNA for MFSD1 Gene

miRTarBase miRNAs that target MFSD1

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for MFSD1

No data available for Molecular function , Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , 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

COMPARTMENTS
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 4
cytoskeleton 1
lysosome 1

Subcellular locations from the

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

Gene Ontology (GO) - Cellular Components for MFSD1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005887 integral component of plasma membrane IEA --
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

PathCards logo

SuperPathways for MFSD1 Gene

No Data Available

Interacting Proteins for MFSD1 Gene

;

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

mRNA/cDNA for MFSD1 Gene

4 REFSEQ mRNAs :
13 NCBI additional mRNA sequence :
21 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for MFSD1

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: -
SP3:
SP4:

Relevant External Links for MFSD1 Gene

GeneLoc Exon Structure for
MFSD1

Expression for MFSD1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and 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, MaxQB, and MOPED for MFSD1 Gene



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for MFSD1

SOURCE GeneReport for Unigene cluster for MFSD1 Gene:

Hs.58663

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
chimpanzee
(Pan troglodytes)
Mammalia MFSD1 31 30
  • 99.35 (n)
OneToOne
dog
(Canis familiaris)
Mammalia MFSD1 31 30
  • 91.83 (n)
OneToOne
cow
(Bos Taurus)
Mammalia MFSD1 31 30
  • 90.25 (n)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia MFSD1 31
  • 90 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Mfsd1 30
  • 85.7 (n)
mouse
(Mus musculus)
Mammalia Mfsd1 17 31 30
  • 85.49 (n)
oppossum
(Monodelphis domestica)
Mammalia MFSD1 31
  • 72 (a)
OneToOne
chicken
(Gallus gallus)
Aves MFSD1 31 30
  • 74.96 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia MFSD1 31
  • 81 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia mfsd1 30
  • 71.26 (n)
zebrafish
(Danio rerio)
Actinopterygii mfsd1 30
  • 67.4 (n)
CABZ01033130.1 31
  • 61 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP009523 30
  • 56.26 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG12194 31 30
  • 55.58 (n)
OneToMany
CG8602 31
  • 48 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.8860 31
  • 64 (a)
OneToOne
Cin.7889 30
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.7889 30
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

ENSEMBL:
Gene Tree for MFSD1 (if available)
TreeFam:
Gene Tree for MFSD1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for MFSD1: view image

Paralogs for MFSD1 Gene

Pseudogenes.org Pseudogenes for MFSD1 Gene

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

Variants for MFSD1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for MFSD1 Gene

SNP ID Clinical significance and condition Chr 03 pos Variation AA Info Type
rs11551240 - p.Ile271Thr
rs17854200 - p.Lys168Glu
rs28364680 - p.Pro24Ser
rs3765083 - p.Ile220Val

Additional dbSNP identifiers (rs#s) for MFSD1 Gene

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)

Additional Variant Information for MFSD1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
MFSD1

SNP Genotyping and Copy Number Assay Products

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

Disorders for MFSD1 Gene

MalaCards: The human disease database

(3) MalaCards diseases for MFSD1 Gene - From: DISEASES

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

Additional Disease Information for MFSD1

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. 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 54
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 54
  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 54
  4. Insights into RNA biology from an atlas of mammalian mRNA-binding proteins. (PMID: 22658674) Castello A … Hentze MW (Cell 2012) 3 54
  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 54

Products for MFSD1 Gene

Sources for MFSD1 Gene