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    MFSD11 major facilitator superfamily domain containing 11 [ Homo sapiens (human) ]

    Gene ID: 79157, updated on 28-Oct-2024

    Summary

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    Official Symbol
    MFSD11provided by HGNC
    Official Full Name
    major facilitator superfamily domain containing 11provided by HGNC
    Primary source
    HGNC:HGNC:25458
    See related
    Ensembl:ENSG00000092931 MIM:620346; AllianceGenome:HGNC:25458
    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
    ET
    Summary
    Predicted to be located in membrane. [provided by Alliance of Genome Resources, Oct 2024]
    Expression
    Ubiquitous expression in colon (RPKM 5.3), stomach (RPKM 4.4) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See MFSD11 in Genome Data Viewer
    Location:
    17q25.1-q25.2
    Exon count:
    21
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (76736634..76803805)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (77633621..77695809)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (74732716..74775423)

    Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:74722561-74723190 Neighboring gene jumonji domain containing 6, arginine demethylase and lysine hydroxylase Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:74723821-74724449 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:74725107-74725737 Neighboring gene methyltransferase 23, arginine Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:74732487-74733112 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12814 Neighboring gene ReSE screen-validated silencer GRCh37_chr17:74736456-74736653 Neighboring gene serine and arginine rich splicing factor 2 Neighboring gene microRNA 636 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:74751679-74752180 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:74752181-74752680 Neighboring gene RNA, U6 small nuclear 97, pseudogene Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr17:74800558-74801081 Neighboring gene long intergenic non-protein coding RNA 2080 Neighboring gene MPRA-validated peak3011 silencer Neighboring gene uncharacterized LOC107985089 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:74822016-74822832 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:74834234-74834958 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12815 Neighboring gene ReSE screen-validated silencer GRCh37_chr17:74835690-74835885 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12816 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12817 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:74837373-74837889 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:74840421-74841249 Neighboring gene long intergenic non-protein coding RNA 868

    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. Characterization of multiple alternative RNAs resulting from antisense transcription of the PR264/SC35 splicing factor gene. Sureau A, et al. Nucleic Acids Res, 1997 Nov 15. PMID 9358160, Free PMC Article
    2. Genetic loci for retinal arteriolar microcirculation. Sim X, et al. PLoS One, 2013. PMID 23776548, Free PMC Article
    3. The Putative SLC Transporters Mfsd5 and Mfsd11 Are Abundantly Expressed in the Mouse Brain and Have a Potential Role in Energy Homeostasis. Perland E, et al. PLoS One, 2016. PMID 27272503, Free PMC Article
    4. The Fly Homologue of MFSD11 Is Possibly Linked to Nutrient Homeostasis and Has a Potential Role in Locomotion: A First Characterization of the Atypical Solute Carrier CG18549 in Drosophila Melanogaster. Ceder MM, et al. Insects, 2021 Nov 13. PMID 34821824, Free PMC Article
    5. Variability of Gene Expression Identifies Transcriptional Regulators of Early Human Embryonic Development. Hasegawa Y, et al. PLoS Genet, 2015 Aug. PMID 26288249, Free PMC Article

    See all (13) citations in PubMed

    GeneRIFs: Gene References Into Functions

    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
    Genetic loci for retinal arteriolar microcirculation.
    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

    • FLJ20226, FLJ22196

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables molecular_function ND
    No biological Data available
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in biological_process ND
    No biological Data available
    more info
    		  
    Component Evidence Code Pubs
    is_active_in cellular_component ND
    No biological Data available
    more info
    		  
    located_in membrane IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    UNC93-like protein MFSD11
    Names
    major facilitator superfamily domain-containing protein 11
    protein ET

    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_001242532.5 → NP_001229461.1  UNC93-like protein MFSD11 isoform 1

      See identical proteins and their annotated locations for NP_001229461.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) encodes isoform 1. Variants 1-5 and 8-10 encode the same protein (isoform 1).
      Source sequence(s)
      AC005837, AC027694
      Consensus CDS
      CCDS11750.1
      UniProtKB/Swiss-Prot
      O43442, O43934, Q9NXI5
      Related
      ENSP00000508960.1, ENST00000685175.1
      Conserved Domains (1) summary
      pfam05978
      Location:14 → 166
      UNC-93; Ion channel regulatory protein UNC-93

    2. NM_001242533.3 → NP_001229462.1  UNC93-like protein MFSD11 isoform 1

      See identical proteins and their annotated locations for NP_001229462.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR, compared to variant 1, and encodes isoform 1. Variants 1-5 and 8-10 encode the same protein (isoform 1).
      Source sequence(s)
      AC005837, AC027694
      Consensus CDS
      CCDS11750.1
      UniProtKB/Swiss-Prot
      O43442, O43934, Q9NXI5
      Related
      ENSP00000468309.1, ENST00000590514.5
      Conserved Domains (1) summary
      pfam05978
      Location:14 → 166
      UNC-93; Ion channel regulatory protein UNC-93

    3. NM_001242534.3 → NP_001229463.1  UNC93-like protein MFSD11 isoform 1

      See identical proteins and their annotated locations for NP_001229463.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR, compared to variant 1, and encodes isoform 1. Variants 1-5 and 8-10 encode the same protein (isoform 1).
      Source sequence(s)
      AC005837, AC027694
      Consensus CDS
      CCDS11750.1
      UniProtKB/Swiss-Prot
      O43442, O43934, Q9NXI5
      Related
      ENSP00000485005.1, ENST00000621483.4
      Conserved Domains (1) summary
      pfam05978
      Location:14 → 166
      UNC-93; Ion channel regulatory protein UNC-93

    4. NM_001242535.3 → NP_001229464.1  UNC93-like protein MFSD11 isoform 1

      See identical proteins and their annotated locations for NP_001229464.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (4) differs in the 5' UTR, compared to variant 1, and encodes isoform 1. Variants 1-5 and 8-10 encode the same protein (isoform 1).
      Source sequence(s)
      AC005837, AC027694
      Consensus CDS
      CCDS11750.1
      UniProtKB/Swiss-Prot
      O43442, O43934, Q9NXI5
      Conserved Domains (1) summary
      pfam05978
      Location:14 → 166
      UNC-93; Ion channel regulatory protein UNC-93

    5. NM_001242536.3 → NP_001229465.1  UNC93-like protein MFSD11 isoform 2

      See identical proteins and their annotated locations for NP_001229465.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (6) differs in the 5' UTR and lacks two in-frame exons in the 5' coding region, compared to variant 1. This variant encodes a shorter protein (isoform 2), compared to isoform 1. Variants 6 and 7 encode the same protein (isoform 2).
      Source sequence(s)
      AC005837, AC027694
      Consensus CDS
      CCDS56045.1
      Related
      ENSP00000348225.3, ENST00000355954.7
      Conserved Domains (1) summary
      cl21472
      Location:14 → 113
      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 ...

    6. NM_001242537.3 → NP_001229466.1  UNC93-like protein MFSD11 isoform 2

      See identical proteins and their annotated locations for NP_001229466.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (7) differs in the 5' UTR and lacks two in-frame exons in the 5' coding region, compared to variant 1. This variant encodes a shorter protein (isoform 2), compared to isoform 1. Variants 6 and 7 encode the same protein (isoform 2).
      Source sequence(s)
      AC005837, AC027694
      Consensus CDS
      CCDS56045.1
      Related
      ENSP00000466782.1, ENST00000593181.5
      Conserved Domains (1) summary
      cl21472
      Location:14 → 113
      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 ...

    7. NM_001353017.2 → NP_001339946.1  UNC93-like protein MFSD11 isoform 1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (8) differs in the 5' UTR, compared to variant 1, and encodes isoform 1. Variants 1-5 and 8-10 encode the same protein (isoform 1).
      Source sequence(s)
      AC005837, AC027694
      Consensus CDS
      CCDS11750.1
      UniProtKB/Swiss-Prot
      O43442, O43934, Q9NXI5
      Conserved Domains (1) summary
      pfam05978
      Location:14 → 166
      UNC-93; Ion channel regulatory protein UNC-93

    8. NM_001353018.2 → NP_001339947.1  UNC93-like protein MFSD11 isoform 1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (9) differs in the 5' UTR, compared to variant 1, and encodes isoform 1. Variants 1-5 and 8-10 encode the same protein (isoform 1).
      Source sequence(s)
      AC005837, AC027694
      Consensus CDS
      CCDS11750.1
      UniProtKB/Swiss-Prot
      O43442, O43934, Q9NXI5
      Conserved Domains (1) summary
      pfam05978
      Location:14 → 166
      UNC-93; Ion channel regulatory protein UNC-93

    9. NM_001353019.2 → NP_001339948.1  UNC93-like protein MFSD11 isoform 1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (10) differs in the 5' UTR, compared to variant 1, and encodes isoform 1. Variants 1-5 and 8-10 encode the same protein (isoform 1).
      Source sequence(s)
      AC005837, AC027694
      Consensus CDS
      CCDS11750.1
      UniProtKB/Swiss-Prot
      O43442, O43934, Q9NXI5
      Conserved Domains (1) summary
      pfam05978
      Location:14 → 166
      UNC-93; Ion channel regulatory protein UNC-93

    10. NM_024311.5 → NP_077287.1  UNC93-like protein MFSD11 isoform 1

      See identical proteins and their annotated locations for NP_077287.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (5) differs in the 5' UTR, compared to variant 1, and encodes isoform 1. Variants 1-5 and 8-10 encode the same protein (isoform 1).
      Source sequence(s)
      AC005837, AC027694
      Consensus CDS
      CCDS11750.1
      UniProtKB/Swiss-Prot
      O43442, O43934, Q9NXI5
      Related
      ENSP00000337240.3, ENST00000336509.8
      Conserved Domains (1) summary
      pfam05978
      Location:14 → 166
      UNC-93; Ion channel regulatory protein UNC-93

    RNA

    1. NR_148229.2 RNA Sequence

      Status: VALIDATED

      Description
      Transcript Variant: This variant (11) has multiple differences, 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)
      AC005837, AC027694

    2. NR_148230.2 RNA Sequence

      Status: VALIDATED

      Description
      Transcript Variant: This variant (12) has multiple differences, 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)
      AC005837, AC027694

    3. NR_148231.2 RNA Sequence

      Status: VALIDATED

      Description
      Transcript Variant: This variant (13) has multiple differences, 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)
      AC005837, AC027694

    4. NR_148232.2 RNA Sequence

      Status: VALIDATED

      Description
      Transcript Variant: This variant (14) has multiple differences, 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)
      AC005837, AC027694

    5. NR_148233.2 RNA Sequence

      Status: VALIDATED

      Description
      Transcript Variant: This variant (15) has multiple differences, 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)
      AC005837, AC027694

    6. NR_148234.2 RNA Sequence

      Status: VALIDATED

      Description
      Transcript Variant: This variant (16) has multiple differences, 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)
      AC005837, AC027694

    7. NR_148235.2 RNA Sequence

      Status: VALIDATED

      Description
      Transcript Variant: This variant (17) has multiple differences, 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)
      AC005837, AC027694

    8. NR_148236.2 RNA Sequence

      Status: VALIDATED

      Description
      Transcript Variant: This variant (18) has multiple differences, 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)
      AC005837, AC027694

    9. NR_148237.2 RNA Sequence

      Status: VALIDATED

      Description
      Transcript Variant: This variant (19) has multiple differences, 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)
      AC005837, AC027694

    10. NR_148238.2 RNA Sequence

      Status: VALIDATED

      Description
      Transcript Variant: This variant (20) has multiple differences, 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)
      AC005837, AC027694

    11. NR_148239.2 RNA Sequence

      Status: VALIDATED

      Description
      Transcript Variant: This variant (21) has multiple differences, 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)
      AC005837, AC027694

    12. NR_148240.2 RNA Sequence

      Status: VALIDATED

      Description
      Transcript Variant: This variant (22) has multiple differences, 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)
      AC005837, AC027694

    13. NR_148242.2 RNA Sequence

      Status: VALIDATED

      Description
      Transcript Variant: This variant (23) has multiple differences, 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)
      AC005837, AC027694

    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_000017.11 Reference GRCh38.p14 Primary Assembly

      Range
      76736634..76803805
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047436733.1 → XP_047292689.1  UNC93-like protein MFSD11 isoform X1

    2. XM_011525239.4 → XP_011523541.2  UNC93-like protein MFSD11 isoform X1

      Conserved Domains (1) summary
      pfam05978
      Location:14 → 166
      UNC-93; Ion channel regulatory protein UNC-93

    3. XM_017025065.3 → XP_016880554.1  UNC93-like protein MFSD11 isoform X1

      Conserved Domains (1) summary
      pfam05978
      Location:14 → 166
      UNC-93; Ion channel regulatory protein UNC-93

    4. XM_011525241.4 → XP_011523543.2  UNC93-like protein MFSD11 isoform X1

      Conserved Domains (1) summary
      pfam05978
      Location:14 → 166
      UNC-93; Ion channel regulatory protein UNC-93

    5. XM_011525238.4 → XP_011523540.2  UNC93-like protein MFSD11 isoform X1

      Conserved Domains (1) summary
      pfam05978
      Location:14 → 166
      UNC-93; Ion channel regulatory protein UNC-93

    6. XM_047436736.1 → XP_047292692.1  UNC93-like protein MFSD11 isoform X3

    7. XM_047436737.1 → XP_047292693.1  UNC93-like protein MFSD11 isoform X5

    8. XM_011525237.4 → XP_011523539.2  UNC93-like protein MFSD11 isoform X1

      Conserved Domains (1) summary
      pfam05978
      Location:14 → 166
      UNC-93; Ion channel regulatory protein UNC-93

    9. XM_047436735.1 → XP_047292691.1  UNC93-like protein MFSD11 isoform X2

    10. XM_011525247.3 → XP_011523549.2  UNC93-like protein MFSD11 isoform X4

    11. XM_047436738.1 → XP_047292694.1  UNC93-like protein MFSD11 isoform X6

    12. XM_047436739.1 → XP_047292695.1  UNC93-like protein MFSD11 isoform X7

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060941.1 Alternate T2T-CHM13v2.0

      Range
      77633621..77695809
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054317188.1 → XP_054173163.1  UNC93-like protein MFSD11 isoform X1

    2. XM_054317195.1 → XP_054173170.1  UNC93-like protein MFSD11 isoform X8

      UniProtKB/Swiss-Prot
      O43442, O43934, Q9NXI5

    3. XM_054317192.1 → XP_054173167.1  UNC93-like protein MFSD11 isoform X1

    4. XM_054317191.1 → XP_054173166.1  UNC93-like protein MFSD11 isoform X1

    5. XM_054317189.1 → XP_054173164.1  UNC93-like protein MFSD11 isoform X1

    6. XM_054317193.1 → XP_054173168.1  UNC93-like protein MFSD11 isoform X1

    7. XM_054317190.1 → XP_054173165.1  UNC93-like protein MFSD11 isoform X1

    8. XM_054317196.1 → XP_054173171.1  UNC93-like protein MFSD11 isoform X3

    9. XM_054317198.1 → XP_054173173.1  UNC93-like protein MFSD11 isoform X5

    10. XM_054317187.1 → XP_054173162.1  UNC93-like protein MFSD11 isoform X1

    11. XM_054317194.1 → XP_054173169.1  UNC93-like protein MFSD11 isoform X2

    12. XM_054317197.1 → XP_054173172.1  UNC93-like protein MFSD11 isoform X4

    13. XM_054317199.1 → XP_054173174.1  UNC93-like protein MFSD11 isoform X6

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    O43934.2 GenPept UniProtKB/Swiss-Prot:O43934

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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