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    SLC35F3 solute carrier family 35 member F3 [ Homo sapiens (human) ]

    Gene ID: 148641, updated on 5-Mar-2024

    Summary

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    Official Symbol
    SLC35F3provided by HGNC
    Official Full Name
    solute carrier family 35 member F3provided by HGNC
    Primary source
    HGNC:HGNC:23616
    See related
    Ensembl:ENSG00000183780 AllianceGenome:HGNC:23616
    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
    Summary
    Involved in thiamine transport. Predicted to be integral component of membrane. [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Biased expression in brain (RPKM 3.2), adrenal (RPKM 0.5) and 8 other tissues See more
    Orthologs
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    Genomic context

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    See SLC35F3 in Genome Data Viewer
    Location:
    1q42.2
    Exon count:
    9
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (233904676..234324511)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (233291129..233714625)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (234040422..234460257)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC107985362 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr1:233843943-233845142 Neighboring gene uncharacterized LOC124904552 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr1:233859728-233860927 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:233865794-233866564 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:233866565-233867336 Neighboring gene uncharacterized LOC107985363 Neighboring gene ReSE screen-validated silencer GRCh37_chr1:234109180-234109382 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr1:234159353-234160552 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr1:234208561-234209760 Neighboring gene Rac family small GTPase 1 pseudogene 7 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_6338 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:234289165-234289666 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:234323999-234324710 Neighboring gene Sharpr-MPRA regulatory region 1313 Neighboring gene uncharacterized LOC124904553 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1968 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1967 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1966 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2745 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2746 Neighboring gene uncharacterized LOC105373206 Neighboring gene SLC35F3 antisense RNA 1 Neighboring gene Sharpr-MPRA regulatory region 10620 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_6359 Neighboring gene ribosomal protein L9 pseudogene 10 Neighboring gene microRNA 4671 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2747 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2748 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2749 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2750 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:234508390-234509214 Neighboring gene ribosomal protein S15 pseudogene 2 Neighboring gene COA6 antisense RNA 1 Neighboring gene cytochrome c oxidase assembly factor 6

    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. Genetic implication of a novel thiamine transporter in human hypertension. Zhang K, et al. J Am Coll Cardiol, 2014 Apr 22. PMID 24509276, Free PMC Article
    2. CCAT1/FABP5 promotes tumour progression through mediating fatty acid metabolism and stabilizing PI3K/AKT/mTOR signalling in lung adenocarcinoma. Chen J, et al. J Cell Mol Med, 2021 Oct. PMID 34431227, Free PMC Article
    3. High-throughput analyses of hnRNP H1 dissects its multi-functional aspect. Uren PJ, et al. RNA Biol, 2016. PMID 26760575, Free PMC Article
    4. Systematic bromodomain protein screens identify homologous recombination and R-loop suppression pathways involved in genome integrity. Kim JJ, et al. Genes Dev, 2019 Dec 1. PMID 31753913, Free PMC Article
    5. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. Bailey SD, et al. Diabetes Care, 2010 Oct. PMID 20628086, Free PMC Article

    See all (10) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
      Title: Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.
    2. Observational study of gene-disease association. (HuGE Navigator)
      Title: Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.
    3. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
      Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
    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

    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

    • FLJ37712

    Gene Ontology Provided by GOA

    Process Evidence Code Pubs
    involved_in thiamine transport IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in thiamine transport IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in membrane IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    solute carrier family 35 member F3
    Names
    putative thiamine transporter SLC35F3
    thiamine transporter SLC35F3

    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_001300845.2 → NP_001287774.1  solute carrier family 35 member F3 isoform 2

      See identical proteins and their annotated locations for NP_001287774.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) 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. The encoded isoform (2) has a distinct N-terminus and is shorter than isoform 1.
      Source sequence(s)
      AK095031, BC037878, DB468252
      Consensus CDS
      CCDS73050.1
      UniProtKB/Swiss-Prot
      Q5TDD6, Q8IY50, Q8N9C9
      Related
      ENSP00000355576.3, ENST00000366617.3
      Conserved Domains (2) summary
      pfam00892
      Location:67 → 223
      EamA; EamA-like transporter family
      pfam06027
      Location:165 → 338
      SLC35F; Solute carrier family 35

    2. NM_173508.4 → NP_775779.1  solute carrier family 35 member F3 isoform 1

      See identical proteins and their annotated locations for NP_775779.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      AK095031, AL713868
      Consensus CDS
      CCDS1600.1
      UniProtKB/Swiss-Prot
      Q8IY50
      Related
      ENSP00000355577.3, ENST00000366618.8
      Conserved Domains (2) summary
      pfam00892
      Location:136 → 292
      EamA; EamA-like transporter family
      pfam06027
      Location:234 → 407
      SLC35F; Solute carrier family 35

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000001.11 Reference GRCh38.p14 Primary Assembly

      Range
      233904676..234324511
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060925.1 Alternate T2T-CHM13v2.0

      Range
      233291129..233714625
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8IY50.2 GenPept UniProtKB/Swiss-Prot:Q8IY50

    Gene LinkOut

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

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