Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID	64747
Gene name	Major facilitator superfamily domain containing 1
Gene symbol	MFSD1
Synonyms (NCBI Gene)	MinervaSLC72A1SMAP4
Chromosome	3
Chromosome location	3q25.32

Show/Hide all (96)

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
MIRT2041721	hsa-miR-425	CLIP-seq
MIRT2041722	hsa-miR-4289	CLIP-seq
MIRT2041723	hsa-miR-653	CLIP-seq
MIRT2271227	hsa-miR-3152-3p	CLIP-seq
MIRT2570388	hsa-miR-1182	CLIP-seq
MIRT2570389	hsa-miR-129-3p	CLIP-seq
MIRT2570390	hsa-miR-151-3p	CLIP-seq
MIRT2570391	hsa-miR-186	CLIP-seq
MIRT2570392	hsa-miR-188-5p	CLIP-seq
MIRT2570393	hsa-miR-2113	CLIP-seq
MIRT1146434	hsa-miR-3074-5p	CLIP-seq
MIRT2570394	hsa-miR-3133	CLIP-seq
MIRT2570395	hsa-miR-3144-3p	CLIP-seq
MIRT2570396	hsa-miR-3163	CLIP-seq
MIRT1146435	hsa-miR-370	CLIP-seq
MIRT2570397	hsa-miR-3713	CLIP-seq
MIRT2570398	hsa-miR-371b-5p	CLIP-seq
MIRT2570399	hsa-miR-3912	CLIP-seq
MIRT2570400	hsa-miR-421	CLIP-seq
MIRT2570401	hsa-miR-423-3p	CLIP-seq
MIRT2570402	hsa-miR-4282	CLIP-seq
MIRT2570403	hsa-miR-4317	CLIP-seq
MIRT2570404	hsa-miR-4446-5p	CLIP-seq
MIRT1146436	hsa-miR-4662a-3p	CLIP-seq
MIRT2570405	hsa-miR-4699-5p	CLIP-seq
MIRT2570406	hsa-miR-4709-5p	CLIP-seq
MIRT2570407	hsa-miR-4755-5p	CLIP-seq
MIRT2570408	hsa-miR-4797-3p	CLIP-seq
MIRT2570409	hsa-miR-4797-5p	CLIP-seq
MIRT2570410	hsa-miR-548a-3p	CLIP-seq
MIRT2570411	hsa-miR-548ae	CLIP-seq
MIRT2570412	hsa-miR-548aj	CLIP-seq
MIRT2570413	hsa-miR-548am	CLIP-seq
MIRT2570414	hsa-miR-548e	CLIP-seq
MIRT2570415	hsa-miR-548f	CLIP-seq
MIRT2570416	hsa-miR-548g	CLIP-seq
MIRT2570417	hsa-miR-548x	CLIP-seq
MIRT2570418	hsa-miR-561	CLIP-seq
MIRT2570419	hsa-miR-577	CLIP-seq
MIRT2570420	hsa-miR-599	CLIP-seq
MIRT2570421	hsa-miR-606	CLIP-seq
MIRT2570422	hsa-miR-616	CLIP-seq
MIRT2570423	hsa-miR-642a	CLIP-seq
MIRT2570424	hsa-miR-802	CLIP-seq
MIRT2570425	hsa-miR-875-5p	CLIP-seq
MIRT2570388	hsa-miR-1182	CLIP-seq
MIRT2570389	hsa-miR-129-3p	CLIP-seq
MIRT2570390	hsa-miR-151-3p	CLIP-seq
MIRT2570391	hsa-miR-186	CLIP-seq
MIRT2570392	hsa-miR-188-5p	CLIP-seq
MIRT2570393	hsa-miR-2113	CLIP-seq
MIRT1146434	hsa-miR-3074-5p	CLIP-seq
MIRT2570394	hsa-miR-3133	CLIP-seq
MIRT2570395	hsa-miR-3144-3p	CLIP-seq
MIRT2570396	hsa-miR-3163	CLIP-seq
MIRT1146435	hsa-miR-370	CLIP-seq
MIRT2570397	hsa-miR-3713	CLIP-seq
MIRT2570398	hsa-miR-371b-5p	CLIP-seq
MIRT2570399	hsa-miR-3912	CLIP-seq
MIRT2570400	hsa-miR-421	CLIP-seq
MIRT2570401	hsa-miR-423-3p	CLIP-seq
MIRT2570402	hsa-miR-4282	CLIP-seq
MIRT2570403	hsa-miR-4317	CLIP-seq
MIRT2570404	hsa-miR-4446-5p	CLIP-seq
MIRT1146436	hsa-miR-4662a-3p	CLIP-seq
MIRT2570405	hsa-miR-4699-5p	CLIP-seq
MIRT2570406	hsa-miR-4709-5p	CLIP-seq
MIRT2684943	hsa-miR-4732-5p	CLIP-seq
MIRT2570407	hsa-miR-4755-5p	CLIP-seq
MIRT2570408	hsa-miR-4797-3p	CLIP-seq
MIRT2570409	hsa-miR-4797-5p	CLIP-seq
MIRT2570410	hsa-miR-548a-3p	CLIP-seq
MIRT2684944	hsa-miR-548ac	CLIP-seq
MIRT2570411	hsa-miR-548ae	CLIP-seq
MIRT2570412	hsa-miR-548aj	CLIP-seq
MIRT2570413	hsa-miR-548am	CLIP-seq
MIRT2684945	hsa-miR-548d-3p	CLIP-seq
MIRT2570414	hsa-miR-548e	CLIP-seq
MIRT2570415	hsa-miR-548f	CLIP-seq
MIRT2570416	hsa-miR-548g	CLIP-seq
MIRT2570417	hsa-miR-548x	CLIP-seq
MIRT2684946	hsa-miR-548z	CLIP-seq
MIRT2570418	hsa-miR-561	CLIP-seq
MIRT2570419	hsa-miR-577	CLIP-seq
MIRT2684947	hsa-miR-587	CLIP-seq
MIRT2570420	hsa-miR-599	CLIP-seq
MIRT2570421	hsa-miR-606	CLIP-seq
MIRT2570422	hsa-miR-616	CLIP-seq
MIRT2570423	hsa-miR-642a	CLIP-seq
MIRT2570424	hsa-miR-802	CLIP-seq
MIRT2570425	hsa-miR-875-5p	CLIP-seq

Show/Hide all (19)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005764	Component	Lysosome	IBA
GO:0005764	Component	Lysosome	IEA
GO:0005764	Component	Lysosome	ISS
GO:0005765	Component	Lysosomal membrane	IDA	38507452
GO:0005765	Component	Lysosomal membrane	IEA
GO:0005765	Component	Lysosomal membrane	IEA
GO:0016020	Component	Membrane	IEA
GO:0022857	Function	Transmembrane transporter activity	IEA
GO:0035442	Process	Dipeptide transmembrane transport	IEA
GO:0042803	Function	Protein homodimerization activity	IEA
GO:0042803	Function	Protein homodimerization activity	ISS
GO:0050821	Process	Protein stabilization	IEA
GO:0050821	Process	Protein stabilization	ISS
GO:0055085	Process	Transmembrane transport	IEA
GO:0061462	Process	Protein localization to lysosome	IEA
GO:0061462	Process	Protein localization to lysosome	ISS
GO:0141204	Process	Dipeptide transmembrane transport from lysosomal lumen to cytosol	IDA	38507452
GO:0141204	Process	Dipeptide transmembrane transport from lysosomal lumen to cytosol	IEA
GO:0160178	Function	Dipeptide uniporter activity	IDA	38507452

MIM	HGNC	e!Ensembl
619976	25874	ENSG00000118855

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

MEEEDEEARALLAGGPDEADRGAPAAPGALPALCDPSRLAHRLLVLLLMCFLGFGSYFCY
DNPAALQTQVKRDMQVNTTKFMLLYAWYSWPNVVLCFFGGFLIDRVFGIRWGTIIFSCFV
CIGQVVFALGGIFNAFWLMEFGRFVFGIGGESLAVAQNTYAVSWFKGKELNLVFGLQLSM
ARIGSTVNMNLMGWLYSKIEALLGSAGHTTLGITLMIGGITCILSLICALALAYLDQRAE
RILHKEQGKTGEVIKLTDVKDFSLPLWLIFIICVCYYVAVFPFIGLGKVFFTEKFGFSSQ
AASAINSVVYVISAPMSPVFGLLVDKTGKNIIWVLCAVAATLVSHMMLAFTMWNPWIAMC
LLGLSYSLLACALWPMVAFVVPEHQLGTAYGFMQSIQNLGLAIISIIAGMILDSRGYLFL
EVFFIACVSLSLLSVVLLYLVNRAQGGNLNYSARQREEIKFSHTE

Sequence length

465

Interactions

View interactions

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Show/Hide Unknown Diseases (3)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
CHRONIC OBSTRUCTIVE PULMONARY DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INSOMNIA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PERIODONTITIS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (9)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Diabetes	Diabetes	BEFREE	30200077		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	30200077		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes mellitus	Pubtator	30200077	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	BEFREE	30547318		★★★★★ ★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	Pubtator	30547318	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Periodontitis	Periodontitis	GWASCAT_DG	24024966		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Periodontitis	Periodontitis	BEFREE	30547318		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Periodontitis	Periodontitis	Pubtator	30547318	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Periodontosis	Periodontosis	GWASCAT_DG	24024966		★★★★★ ★☆☆☆☆ Found in Text Mining only

MFSD1 (major facilitator superfamily domain containing 1)