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MFSD1 major facilitator superfamily domain containing 1 [ Homo sapiens (human) ]

Gene ID: 64747, updated on 2-Nov-2024

Summary

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Official Symbol
MFSD1provided by HGNC
Official Full Name
major facilitator superfamily domain containing 1provided by HGNC
Primary source
HGNC:HGNC:25874
See related
Ensembl:ENSG00000118855 MIM:619976; AllianceGenome:HGNC:25874
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
SMAP4; Minerva
Summary
Enables dipeptide uniporter activity. Involved in dipeptide transmembrane transport from lysosomal lumen to cytosol. Is active in lysosomal membrane. [provided by Alliance of Genome Resources, Nov 2024]
Expression
Ubiquitous expression in appendix (RPKM 32.7), esophagus (RPKM 31.9) and 25 other tissues See more
Orthologs
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Genomic context

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See MFSD1 in Genome Data Viewer
Location:
3q25.32
Exon count:
17
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (158802054..158829716)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (161575980..161603601)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (158519843..158547505)

Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene retinoic acid receptor responder 1 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr3:158430992-158432191 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:158433310-158433810 Neighboring gene ReSE screen-validated silencer GRCh37_chr3:158447157-158447335 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14848 Neighboring gene uncharacterized LOC100287290 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:158450198-158450698 Neighboring gene ReSE screen-validated silencer GRCh37_chr3:158478422-158478617 Neighboring gene VISTA enhancer hs1990 Neighboring gene ribosomal protein L35a pseudogene 9 Neighboring gene MPRA-validated peak4881 silencer Neighboring gene Sharpr-MPRA regulatory region 7446 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20751 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20752 Neighboring gene G protein-coupled receptor 79 (pseudogene) Neighboring gene uncharacterized LOC105374181 Neighboring gene MPRA-validated peak4882 silencer

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. Orphan lysosomal solute carrier MFSD1 facilitates highly selective dipeptide transport. Boytsov D, et al. Proc Natl Acad Sci U S A, 2024 Mar 26. PMID 38507452, Free PMC Article
  2. The lysosomal transporter MFSD1 is essential for liver homeostasis and critically depends on its accessory subunit GLMP. Massa López D, et al. Elife, 2019 Oct 29. PMID 31661432, Free PMC Article
  3. Characterization of the CLEAR network reveals an integrated control of cellular clearance pathways. Palmieri M, et al. Hum Mol Genet, 2011 Oct 1. PMID 21752829
  4. A conserved major facilitator superfamily member orchestrates a subset of O-glycosylation to aid macrophage tissue invasion. Valoskova K, et al. Elife, 2019 Mar 26. PMID 30910009, Free PMC Article
  5. Genome-wide association study of chronic periodontitis in a general German population. Teumer A, et al. J Clin Periodontol, 2013 Nov. PMID 24024966

See all (16) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Orphan lysosomal solute carrier MFSD1 facilitates highly selective dipeptide transport.
    Title: Orphan lysosomal solute carrier MFSD1 facilitates highly selective dipeptide transport.
  2. MFSD1 protein localizes in lysosomes in HeLa cells
    Title: Characterization of the CLEAR network reveals an integrated control of cellular clearance pathways.
Submit: New GeneRIF Correction

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
Genome-wide association study of chronic periodontitis in a general German population.
EBI GWAS Catalog

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • FLJ14153

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables dipeptide uniporter activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables protein homodimerization activity ISS
Inferred from Sequence or Structural Similarity
more info
  
Process Evidence Code Pubs
involved_in dipeptide transmembrane transport IEA
Inferred from Electronic Annotation
more info
  
involved_in dipeptide transmembrane transport from lysosomal lumen to cytosol IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in protein localization to lysosome ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in protein stabilization ISS
Inferred from Sequence or Structural Similarity
more info
  
Component Evidence Code Pubs
is_active_in lysosomal membrane IDA
Inferred from Direct Assay
more info
 PubMed 
is_active_in lysosome IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in lysosome ISS
Inferred from Sequence or Structural Similarity
more info
  

General protein information

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Preferred Names
lysosomal dipeptide transporter MFSD1
Names
major facilitator superfamily domain-containing protein 1
smooth muscle cell-associated protein 4

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_001167903.3 → NP_001161375.2  lysosomal dipeptide transporter MFSD1 isoform 2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) has multiple differences, compared to variant 1, one of which results in a restricted translational frameshift in the 5' coding region. The resulting protein (isoform 2) has a distinct segment and is shorter than isoform 1.
    Source sequence(s)
    AC080013, AK297593, AK300497, BU608918
    Consensus CDS
    CCDS54666.2
    UniProtKB/TrEMBL
    A0A494C105
    Related
    ENSP00000498818.1, ENST00000651862.1
    Conserved Domains (1) summary
    cd17340
    Location:49 → 388
    MFS_MFSD1; Major facilitator superfamily domain-containing protein 1

  2. NM_001289406.3 → NP_001276335.1  lysosomal dipeptide transporter MFSD1 isoform 3

    See identical proteins and their annotated locations for NP_001276335.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) differs in the 5' UTR, lacks a portion of the 5' coding region, and initiates translation at an alternate start codon, compared to variant 1. This results in an isoform (3) that has a shorter and distinct N-terminus, compared to isoform 1.
    Source sequence(s)
    AK294628, AK297593, BC017661
    UniProtKB/Swiss-Prot
    Q9H3U5
    Conserved Domains (1) summary
    cd17340
    Location:14 → 330
    MFS_MFSD1; Major facilitator superfamily domain-containing protein 1

  3. NM_001289407.3 → NP_001276336.1  lysosomal dipeptide transporter MFSD1 isoform 4

    See identical proteins and their annotated locations for NP_001276336.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (4) differs in the 5' UTR, lacks a portion of the 5' coding region, and initiates translation at a downstream start codon, compared to variant 1. This results in an isoform (4) that has a shorter and distinct N-terminus, compared to isoform 1.
    Source sequence(s)
    AK297593, AK301680, BC017661, BU608918
    UniProtKB/Swiss-Prot
    Q9H3U5
    Conserved Domains (2) summary
    cd06174
    Location:1 → 354
    MFS; The Major Facilitator Superfamily (MFS) is a large and diverse group of secondary transporters that includes uniporters, symporters, and antiporters. MFS proteins facilitate the transport across cytoplasmic or internal membranes of a variety of ...
    pfam07690
    Location:8 → 330
    MFS_1; Major Facilitator Superfamily

  4. NM_022736.4 → NP_073573.3  lysosomal dipeptide transporter MFSD1 isoform 1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) encodes the longest isoform (1).
    Source sequence(s)
    AK297593, BC017661
    Consensus CDS
    CCDS3185.3
    UniProtKB/Swiss-Prot
    B4DGJ8, B4DMR8, B4DU49, B4DWU1, C9JS94, J3KQL7, Q05C07, Q5XKJ1, Q8IVS1, Q8IXG4, Q9H3U5, Q9H7X1
    Related
    ENSP00000403117.3, ENST00000415822.8
    Conserved Domains (1) summary
    cd06174
    Location:49 → 427
    MFS; The Major Facilitator Superfamily (MFS) is a large and diverse group of secondary transporters that includes uniporters, symporters, and antiporters. MFS proteins facilitate the transport across cytoplasmic or internal membranes of a variety of ...

RNA

  1. NR_110328.3 RNA Sequence

    Status: VALIDATED

    Description
    Transcript Variant: This variant (5) uses an alternate 5' and 3' exon structure, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AK297593, BC017661, BC030542
    Related
    ENST00000480292.5

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000003.12 Reference GRCh38.p14 Primary Assembly

    Range
    158802054..158829716
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047448733.1 → XP_047304689.1  lysosomal dipeptide transporter MFSD1 isoform X2

  2. XM_006713730.3 → XP_006713793.2  lysosomal dipeptide transporter MFSD1 isoform X3

    UniProtKB/TrEMBL
    A0A494C105
    Conserved Domains (1) summary
    cd17340
    Location:49 → 388
    MFS_MFSD1; Major facilitator superfamily domain-containing protein 1

  3. XM_047448732.1 → XP_047304688.1  lysosomal dipeptide transporter MFSD1 isoform X1

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060927.1 Alternate T2T-CHM13v2.0

    Range
    161575980..161603601
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054347568.1 → XP_054203543.1  lysosomal dipeptide transporter MFSD1 isoform X2

  2. XM_054347569.1 → XP_054203544.1  lysosomal dipeptide transporter MFSD1 isoform X3

  3. XM_054347567.1 → XP_054203542.1  lysosomal dipeptide transporter MFSD1 isoform X1

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q9H3U5.2 GenPept UniProtKB/Swiss-Prot:Q9H3U5

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