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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
    mouse all
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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

    Gene LinkOut

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