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

Gene ID: 91749, updated on 14-Nov-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, Nov 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 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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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

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