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    MFSD4B major facilitator superfamily domain containing 4B [ Homo sapiens (human) ]

    Gene ID: 91749, updated on 10-Dec-2024

    Summary

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    Official Symbol
    MFSD4Bprovided by HGNC
    Official Full Name
    major facilitator superfamily domain containing 4Bprovided by HGNC
    Primary source
    HGNC:HGNC:21053
    See related
    Ensembl:ENSG00000173214 MIM:617331; AllianceGenome:HGNC:21053
    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
    NaGLT1; SLC60A2; KIAA1919
    Summary
    Predicted to enable symporter activity. Predicted to be involved in D-glucose transmembrane transport and sodium ion transport. Predicted to be located in apical plasma membrane. [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Ubiquitous expression in placenta (RPKM 2.0), testis (RPKM 1.6) and 24 other tissues See more
    Orthologs
    all
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    Genomic context

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    See MFSD4B in Genome Data Viewer
    Location:
    6q21
    Exon count:
    4
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 6 NC_000006.12 (111259339..111280005)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 6 NC_060930.1 (112442435..112463097)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (111580542..111601208)

    Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene solute carrier family 16 member 10 Neighboring gene uncharacterized LOC124901377 Neighboring gene MFSD4B divergent transcript Neighboring gene ReSE screen-validated silencer GRCh37_chr6:111573581-111573781 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr6:111575060-111575706 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr6:111575707-111576354 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr6:111576355-111577001 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr6:111577002-111577648 Neighboring gene uncharacterized LOC124901378 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24941 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24942 Neighboring gene Sharpr-MPRA regulatory region 12211 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_87657 Neighboring gene uncharacterized LOC124901376 Neighboring gene H3K27ac hESC enhancer GRCh37_chr6:111604271-111604834 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr6:111604835-111605396 Neighboring gene REV3 like, DNA directed polymerase zeta catalytic subunit Neighboring gene FCF1 pseudogene 5

    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
    • 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. Cloning and characterization of a novel Na+-dependent glucose transporter (NaGLT1) in rat kidney. Horiba N, et al. J Biol Chem, 2003 Apr 25. PMID 12590146
    2. Prediction of the coding sequences of unidentified human genes. XXI. The complete sequences of 60 new cDNA clones from brain which code for large proteins. Nagase T, et al. DNA Res, 2001 Aug 31. PMID 11572484
    3. A BioID-Derived Proximity Interactome for SARS-CoV-2 Proteins. May DG, et al. Viruses, 2022 Mar 15. PMID 35337019, Free PMC Article
    4. ER-export and ARFRP1/AP-1-dependent delivery of SARS-CoV-2 Envelope to lysosomes controls late stages of viral replication. Pearson GJ, et al. Sci Adv, 2024 Apr 5. PMID 38569033, Free PMC Article
    5. An organelle-specific protein landscape identifies novel diseases and molecular mechanisms. Boldt K, et al. Nat Commun, 2016 May 13. PMID 27173435, Free PMC Article

    See all (15) 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

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • MGC33953

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables D-glucose transmembrane transporter activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables symporter activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    Process Evidence Code Pubs
    involved_in hexose transmembrane transport IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in sodium ion transport IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    located_in apical plasma membrane IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    sodium-dependent glucose transporter 1
    Names
    major facilitator superfamily domain-containing protein 4B

    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_153369.4 → NP_699200.2  sodium-dependent glucose transporter 1

      See identical proteins and their annotated locations for NP_699200.2

      Status: VALIDATED

      Source sequence(s)
      AB067506, AI096577, AI151460, AK093136, AL080317, BC036115, BG697347, DB024559, DB027926, DB202540
      Consensus CDS
      CCDS5090.1
      UniProtKB/Swiss-Prot
      A8K9M0, Q5TF39, Q8IYB6, Q96PW9, Q9P0D6
      UniProtKB/TrEMBL
      B3KSA1
      Related
      ENSP00000500934.1, ENST00000671876.2
      Conserved Domains (2) summary
      cd06174
      Location:1 → 405
      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:2 → 370
      MFS_1; Major Facilitator Superfamily

    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_000006.12 Reference GRCh38.p14 Primary Assembly

      Range
      111259339..111280005
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060930.1 Alternate T2T-CHM13v2.0

      Range
      112442435..112463097
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q5TF39.1 GenPept UniProtKB/Swiss-Prot:Q5TF39

    Gene LinkOut

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

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