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    SLC43A3 solute carrier family 43 member 3 [ Homo sapiens (human) ]

    Gene ID: 29015, updated on 5-Mar-2024

    Summary

    Official Symbol
    SLC43A3provided by HGNC
    Official Full Name
    solute carrier family 43 member 3provided by HGNC
    Primary source
    HGNC:HGNC:17466
    See related
    Ensembl:ENSG00000134802 MIM:618034; AllianceGenome:HGNC:17466
    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
    EEG1; ENBT1; FOAP-13; PRO1659; SEEEG-1
    Summary
    Predicted to enable transmembrane transporter activity. Predicted to be involved in transmembrane transport. Predicted to be integral component of membrane. [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Ubiquitous expression in thyroid (RPKM 33.1), liver (RPKM 25.7) and 24 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See SLC43A3 in Genome Data Viewer
    Location:
    11q12.1
    Exon count:
    15
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (57406954..57427580, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (57357133..57377747, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (57174427..57195053, complement)

    Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr11:57146812-57148011 Neighboring gene proteoglycan 3, pro eosinophil major basic protein 2 Neighboring gene proteoglycan 2, pro eosinophil major basic protein Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:57182050-57182550 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr11:57193011-57194210 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3346 Neighboring gene RNA, 5S ribosomal pseudogene 341 Neighboring gene RN7SK pseudogene 259

    Genomic regions, transcripts, and products

    Expression

    • 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    EBI GWAS Catalog

    Description
    A genome-wide scan of Ashkenazi Jewish Crohn's disease suggests novel susceptibility loci.
    EBI GWAS Catalog

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Potential readthrough

    Included gene: PRG2

    Clone Names

    • DKFZp762A227

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables adenine transmembrane transporter activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables fatty acid transmembrane transporter activity ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    enables guanine transmembrane transporter activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables xenobiotic transmembrane transporter activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in adenine transport IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in fatty acid transport IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in guanine transmembrane transport IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in hypoxanthine transport IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in xenobiotic transport IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    located_in basolateral plasma membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 

    General protein information

    Preferred Names
    equilibrative nucleobase transporter 1
    Names
    likely ortholog of mouse embryonic epithelial gene 1

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_001278201.2NP_001265130.1  equilibrative nucleobase transporter 1 isoform 1

      See identical proteins and their annotated locations for NP_001265130.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR, compared to variant 1. Variants 1, 2, 3 and 4 encode the same isoform 1.
      Source sequence(s)
      AK315839, AL157431
      Consensus CDS
      CCDS7956.1
      UniProtKB/Swiss-Prot
      B4DNR8, E7EQD2, Q8NBI5, Q9NSS4
      UniProtKB/TrEMBL
      A8K2X6, B0AZP8
    2. NM_001278206.2NP_001265135.1  equilibrative nucleobase transporter 1 isoform 2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (5) differs in the 5' UTR and has an alternate splice site in the 5' coding region, compared to variant 1. The resulting isoform (2) has an additional segment, compared to isoform 1.
      Source sequence(s)
      AK298028, AL157431
      Consensus CDS
      CCDS60784.1
      UniProtKB/TrEMBL
      A8K2X6, B0AZP8
      Related
      ENSP00000434515.1, ENST00000533524.5
    3. NM_014096.4NP_054815.2  equilibrative nucleobase transporter 1 isoform 1

      See identical proteins and their annotated locations for NP_054815.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) and variants 2, 3 and 4 encode the same isoform (1).
      Source sequence(s)
      AL157431, AP000781, HY120731
      Consensus CDS
      CCDS7956.1
      UniProtKB/Swiss-Prot
      B4DNR8, E7EQD2, Q8NBI5, Q9NSS4
      UniProtKB/TrEMBL
      A8K2X6, B0AZP8
      Related
      ENSP00000378555.2, ENST00000395123.6
    4. NM_017611.3NP_060081.1  equilibrative nucleobase transporter 1 isoform 1

      See identical proteins and their annotated locations for NP_060081.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (4) has an alternate 5' UTR exon, compared to variant 1. Variants 1, 2, 3 and 4 encode the same isoform 1.
      Source sequence(s)
      AB028927, AL157431
      Consensus CDS
      CCDS7956.1
      UniProtKB/Swiss-Prot
      B4DNR8, E7EQD2, Q8NBI5, Q9NSS4
      UniProtKB/TrEMBL
      A8K2X6, B0AZP8
      Related
      ENSP00000337561.1, ENST00000352187.5
    5. NM_199329.3NP_955361.1  equilibrative nucleobase transporter 1 isoform 1

      See identical proteins and their annotated locations for NP_955361.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR, compared to variant 1. Variants 1, 2, 3 and 4 encode the same isoform 1.
      Source sequence(s)
      AL157431, BC003163, DC347054
      Consensus CDS
      CCDS7956.1
      UniProtKB/Swiss-Prot
      B4DNR8, E7EQD2, Q8NBI5, Q9NSS4
      UniProtKB/TrEMBL
      A8K2X6, B0AZP8
      Related
      ENSP00000378556.1, ENST00000395124.6

    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_000011.10 Reference GRCh38.p14 Primary Assembly

      Range
      57406954..57427580 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060935.1 Alternate T2T-CHM13v2.0

      Range
      57357133..57377747 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)