Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
64747
Gene name Gene Name - the full gene name approved by the HGNC.
Major facilitator superfamily domain containing 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
MFSD1
Synonyms (NCBI Gene) Gene synonyms aliases
Minerva, SLC72A1, SMAP4
Chromosome Chromosome number
3
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
3q25.32
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT023178 hsa-miR-124-3p Microarray 18668037
MIRT049667 hsa-miR-92a-3p CLASH 23622248
MIRT1146434 hsa-miR-3074-5p CLIP-seq
MIRT1146435 hsa-miR-370 CLIP-seq
MIRT1146436 hsa-miR-4662a-3p CLIP-seq
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0005764 Component Lysosome ISS
GO:0016021 Component Integral component of membrane IEA
GO:0022857 Function Transmembrane transporter activity IEA
GO:0042803 Function Protein homodimerization activity ISS
GO:0050821 Process Protein stabilization ISS
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
619976 25874 ENSG00000118855
Protein
UniProt ID Q9H3U5
Protein name Lysosomal dipeptide transporter MFSD1 (Major facilitator superfamily domain-containing protein 1) (Smooth muscle cell-associated protein 4) (SMAP-4)
Protein function Lysosomal dipeptide uniporter that selectively exports lysine, arginine or histidine-containing dipeptides with a net positive charge from the lysosome lumen into the cytosol (PubMed:38507452). Could play a role in a specific type of protein O-g
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF07690 MFS_1 45 380 Major Facilitator Superfamily Family
PF07690 MFS_1 269 462 Major Facilitator Superfamily Family
Sequence
Sequence length 465
Interactions View interactions
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Periodontitis Periodontitis rs28937571, rs104894211, rs587777534 24024966
Unknown
Disease term Disease name Evidence References Source
Tetralogy of Fallot Tetralogy of Fallot GWAS
Insomnia Insomnia GWAS
Associations from Text Mining
Disease Name Relationship Type References
Diabetes Mellitus Associate 30200077
Obesity Associate 30547318
Periodontitis Associate 30547318