Aliases for SLC49A3 Gene

Aliases for SLC49A3 Gene

  • Solute Carrier Family 49 Member 3 2 3 5
  • Major Facilitator Superfamily Domain-Containing Protein 7 3 4
  • Major Facilitator Superfamily Domain Containing 7 2 3
  • Myosin Light Polypeptide 5 Regulatory Protein 3 4
  • Solute Carrier Family 49 Member A3 3 4
  • LP2561 2 3
  • MFSD7 3 4
  • MYL5 3 4
  • FLJ22269 2
  • SLC49A3 5

External Ids for SLC49A3 Gene

Previous HGNC Symbols for SLC49A3 Gene

  • MFSD7

Summaries for SLC49A3 Gene

GeneCards Summary for SLC49A3 Gene

SLC49A3 (Solute Carrier Family 49 Member 3) is a Protein Coding gene. Diseases associated with SLC49A3 include Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome and Hydranencephaly. An important paralog of this gene is FLVCR1.

Additional gene information for SLC49A3 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 SLC49A3 Gene

Genomics for SLC49A3 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for SLC49A3 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 SLC49A3 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for SLC49A3

Genomic Locations for SLC49A3 Gene

Genomic Locations for SLC49A3 Gene
chr4:676,205-690,748
(GRCh38/hg38)
Size:
14,544 bases
Orientation:
Minus strand
chr4:675,618-683,230
(GRCh37/hg19)
Size:
7,613 bases
Orientation:
Minus strand

Genomic View for SLC49A3 Gene

Genes around SLC49A3 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SLC49A3 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SLC49A3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SLC49A3 Gene

Proteins for SLC49A3 Gene

  • Protein details for SLC49A3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q6UXD7-S49A3_HUMAN
    Recommended name:
    Solute carrier family 49 member A3
    Protein Accession:
    Q6UXD7
    Secondary Accessions:
    • A8K7J5
    • Q6XYD4
    • Q8N6H1
    • Q9H6H6

    Protein attributes for SLC49A3 Gene

    Size:
    560 amino acids
    Molecular mass:
    58427 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=AAP34459.1; Type=Miscellaneous discrepancy; Note=Intron retention.; Evidence={ECO:0000305};

    Alternative splice isoforms for SLC49A3 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for SLC49A3 Gene

Post-translational modifications for SLC49A3 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for SLC49A3 Gene

Domains & Families for SLC49A3 Gene

Gene Families for SLC49A3 Gene

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

Protein Domains for SLC49A3 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for SLC49A3 Gene

GenScript: Design optimal peptide antigens:
  • Major facilitator superfamily domain containing 7, isoform CRA_a (D3DVN0_HUMAN)
  • Myosin light polypeptide 5 regulatory protein (MFSD7_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q6UXD7

UniProtKB/Swiss-Prot:

S49A3_HUMAN :
  • Belongs to the major facilitator superfamily.
Family:
  • Belongs to the major facilitator superfamily.
genes like me logo Genes that share domains with SLC49A3: view

Function for SLC49A3 Gene

Phenotypes From GWAS Catalog for SLC49A3 Gene

Gene Ontology (GO) - Molecular Function for SLC49A3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0051184 cofactor transmembrane transporter activity IBA --
genes like me logo Genes that share ontologies with SLC49A3: view

Phenotypes for SLC49A3 Gene

genes like me logo Genes that share phenotypes with SLC49A3: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SLC49A3

No data available for Molecular function , Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for SLC49A3 Gene

Localization for SLC49A3 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SLC49A3 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 SLC49A3 gene
Compartment Confidence
plasma membrane 3
extracellular 1
endosome 1
lysosome 1

Gene Ontology (GO) - Cellular Components for SLC49A3 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 SLC49A3: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for SLC49A3 Gene

Pathways & Interactions for SLC49A3 Gene

PathCards logo

SuperPathways for SLC49A3 Gene

No Data Available

Interacting Proteins for SLC49A3 Gene

Gene Ontology (GO) - Biological Process for SLC49A3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0051181 cofactor transport IEA --
GO:0055085 transmembrane transport IEA --
genes like me logo Genes that share ontologies with SLC49A3: view

No data available for Pathways by source and SIGNOR curated interactions for SLC49A3 Gene

Drugs & Compounds for SLC49A3 Gene

No Compound Related Data Available

Transcripts for SLC49A3 Gene

mRNA/cDNA for SLC49A3 Gene

7 REFSEQ mRNAs :
6 NCBI additional mRNA sequence :
9 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 SLC49A3

Alternative Splicing Database (ASD) splice patterns (SP) for SLC49A3 Gene

No ASD Table

Relevant External Links for SLC49A3 Gene

GeneLoc Exon Structure for
SLC49A3

Expression for SLC49A3 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for SLC49A3

Evidence on tissue expression from TISSUES for SLC49A3 Gene

  • Spleen(4.1)
  • Blood(4.1)
No Expression Related Data Available

Primer Products

No data available for mRNA expression in normal human tissues , mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for SLC49A3 Gene

Orthologs for SLC49A3 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for SLC49A3 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia MFSD7 30 31
  • 93.02 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Mfsd7 30
  • 80.4 (n)
Cow
(Bos Taurus)
Mammalia MFSD7 30 31
  • 79.35 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia MFSD7 30 31
  • 77.43 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Mfsd7a 30 17 31
  • 76.18 (n)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia MFSD7 31
  • 58 (a)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia MFSD7 31
  • 58 (a)
OneToOne
Chicken
(Gallus gallus)
Aves MFSD7 30 31
  • 63.39 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia MFSD7 31
  • 50 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia mfsd7 30
  • 56.58 (n)
MGC75569 30
Worm
(Caenorhabditis elegans)
Secernentea B0416.5 30 31
  • 47.42 (n)
OneToMany
C05G5.1 31
  • 30 (a)
OneToMany
C42C1.8 31
  • 24 (a)
OneToMany
Bread mold
(Neurospora crassa)
Ascomycetes NCU05990 30
  • 46.49 (n)
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 39 (a)
OneToMany
-- 31
  • 33 (a)
OneToMany
-- 31
  • 31 (a)
OneToMany
Species where no ortholog for SLC49A3 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • 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)
  • 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)
  • Fruit Fly (Drosophila melanogaster)
  • 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 Vase (Ciona intestinalis)
  • 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)
  • Zebrafish (Danio rerio)

Evolution for SLC49A3 Gene

ENSEMBL:
Gene Tree for SLC49A3 (if available)
TreeFam:
Gene Tree for SLC49A3 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for SLC49A3: view image

Paralogs for SLC49A3 Gene

Paralogs for SLC49A3 Gene

genes like me logo Genes that share paralogs with SLC49A3: view

Variants for SLC49A3 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for SLC49A3 Gene

SNP ID Clinical significance and condition Chr 04 pos Variation AA Info Type
rs11558585 - p.Ser170Pro

Additional dbSNP identifiers (rs#s) for SLC49A3 Gene

Structural Variations from Database of Genomic Variants (DGV) for SLC49A3 Gene

Variant ID Type Subtype PubMed ID
esv2759217 CNV loss 17122850
nsv10413 CNV gain 18304495
nsv508986 CNV insertion 20534489
nsv593206 CNV loss 21841781
nsv593208 CNV loss 21841781
nsv822425 CNV loss 20364138
nsv829834 CNV loss 17160897
nsv950325 CNV deletion 24416366

Variation tolerance for SLC49A3 Gene

Residual Variation Intolerance Score: 49.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.18; 39.43% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for SLC49A3 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
SLC49A3

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SLC49A3 Gene

Disorders for SLC49A3 Gene

MalaCards: The human disease database

(3) MalaCards diseases for SLC49A3 Gene - From: DISEASES

- elite association - COSMIC cancer census association via MalaCards
genes like me logo Genes that share disorders with SLC49A3: view

No data available for UniProtKB/Swiss-Prot and Genatlas for SLC49A3 Gene

Publications for SLC49A3 Gene

  1. The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment. (PMID: 12975309) Clark HF … Gray A (Genome research 2003) 2 3 4
  2. Heme and FLVCR-related transporter families SLC48 and SLC49. (PMID: 23506900) Khan AA … Quigley JG (Molecular aspects of medicine 2013) 2 3
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4
  4. 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
  5. Large-scale cDNA transfection screening for genes related to cancer development and progression. (PMID: 15498874) Wan D … Gu J (Proceedings of the National Academy of Sciences of the United States of America 2004) 3 4

Products for SLC49A3 Gene

Sources for SLC49A3 Gene