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    SLC15A4 solute carrier family 15 member 4 [ Homo sapiens (human) ]

    Gene ID: 121260, updated on 14-Nov-2024

    Summary

    Official Symbol
    SLC15A4provided by HGNC
    Official Full Name
    solute carrier family 15 member 4provided by HGNC
    Primary source
    HGNC:HGNC:23090
    See related
    Ensembl:ENSG00000139370 MIM:615806; AllianceGenome:HGNC:23090
    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
    PHT1; PTR4; FP12591
    Summary
    Enables several functions, including L-histidine transmembrane transporter activity; peptide:proton symporter activity; and peptidoglycan transmembrane transporter activity. Involved in dipeptide import across plasma membrane; peptidoglycan transport; and positive regulation of pattern recognition receptor signaling pathway. Located in endolysosome membrane. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Ubiquitous expression in bone marrow (RPKM 17.6), testis (RPKM 10.0) and 25 other tissues See more
    Orthologs
    NEW
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    Genomic context

    See SLC15A4 in Genome Data Viewer
    Location:
    12q24.33
    Exon count:
    10
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (128793194..128823958, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (128825188..128855979, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (129277739..129308503, complement)

    Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene transmembrane protein 132C Neighboring gene microRNA 3612 Neighboring gene NANOG hESC enhancer GRCh37_chr12:128866078-128866579 Neighboring gene OCT4-NANOG-H3K4me1 hESC enhancer GRCh37_chr12:128867427-128868398 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr12:128868399-128869369 Neighboring gene uncharacterized LOC124903115 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr12:128942780-128943732 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr12:128943733-128944685 Neighboring gene ReSE screen-validated silencer GRCh37_chr12:129028409-129028584 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7326 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5087 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr12:129141297-129142496 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:129148562-129149148 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_25284 Neighboring gene H3K27ac hESC enhancer GRCh37_chr12:129192543-129193044 Neighboring gene H3K27ac hESC enhancer GRCh37_chr12:129193045-129193544 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7327 Neighboring gene H3K27ac hESC enhancer GRCh37_chr12:129212543-129213042 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr12:129238411-129239610 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:129271367-129271867 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7328 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:129276413-129276913 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7329 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7331 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr12:129281709-129282908 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:129286977-129287478 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:129287479-129287978 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7333 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7334 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7335 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7336 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7337 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7338 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7339 Neighboring gene uncharacterized LOC124903083 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7340 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7341 Neighboring gene uncharacterized LOC124903089 Neighboring gene uncharacterized LOC100128276

    Genomic regions, transcripts, and products

    Expression

    • 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    EBI GWAS Catalog

    Description
    Genome-wide association study identifies novel loci associated with concentrations of four plasma phospholipid fatty acids in the de novo lipogenesis pathway: results from the Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) consortiu
    EBI GWAS Catalog
    Genome-wide association study in a Chinese Han population identifies nine new susceptibility loci for systemic lupus erythematosus.
    EBI GWAS Catalog
    Meta-analysis followed by replication identifies loci in or near CDKN1B, TET3, CD80, DRAM1, and ARID5B as associated with systemic lupus erythematosus in Asians.
    EBI GWAS Catalog

    Interactions

    General gene information

    Gene Ontology Provided by GOA

    Process Evidence Code Pubs
    involved_in L-histidine transmembrane export from vacuole  
    involved_in dipeptide import across plasma membrane  
    involved_in dipeptide import across plasma membrane PubMed 
    involved_in histidine transport  
    involved_in innate immune response  
    involved_in mast cell homeostasis  
    involved_in monoatomic ion transport  
    involved_in peptidoglycan transport PubMed 
    involved_in positive regulation of innate immune response PubMed 
    involved_in positive regulation of nucleotide-binding oligomerization domain containing 1 signaling pathway  
    involved_in positive regulation of nucleotide-binding oligomerization domain containing 2 signaling pathway  
    involved_in positive regulation of toll-like receptor 7 signaling pathway PubMed 
    involved_in positive regulation of toll-like receptor 8 signaling pathway PubMed 
    involved_in positive regulation of toll-like receptor 9 signaling pathway PubMed 
    involved_in protein transport  
    involved_in proton transmembrane transport  
    involved_in regulation of isotype switching to IgG isotypes  
    involved_in regulation of nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway  
    Component Evidence Code Pubs
    located_in early endosome membrane  
    located_in endolysosome membrane PubMed 
    located_in endolysosome membrane  
    located_in lysosomal membrane PubMed 
    located_in lysosomal membrane  
    is_active_in membrane  
    located_in plasma membrane  
    located_in specific granule membrane  

    General protein information

    Preferred Names
    solute carrier family 15 member 4
    Names
    hPHT1
    peptide transporter 4
    peptide-histidine transporter 4
    peptide/histidine transporter 1
    solute carrier family 15 (oligopeptide transporter), member 4

    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_145648.4NP_663623.1  solute carrier family 15 member 4

      See identical proteins and their annotated locations for NP_663623.1

      Status: VALIDATED

      Source sequence(s)
      AC108704
      Consensus CDS
      CCDS9264.1
      UniProtKB/Swiss-Prot
      A6H8Y9, B3KTK1, Q71M34, Q7Z5F8, Q8N697, Q8TAH0
      Related
      ENSP00000266771.5, ENST00000266771.10
      Conserved Domains (2) summary
      pfam00854
      Location:146491
      PTR2; POT family
      cl21472
      Location:40247
      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 ...

    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_000012.12 Reference GRCh38.p14 Primary Assembly

      Range
      128793194..128823958 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011537895.2XP_011536197.1  solute carrier family 15 member 4 isoform X1

      Conserved Domains (1) summary
      pfam00854
      Location:146541
      PTR2; POT family
    2. XM_047428283.1XP_047284239.1  solute carrier family 15 member 4 isoform X2

      Related
      ENSP00000365935.4, ENST00000376744.8

    RNA

    1. XR_007063044.1 RNA Sequence

    2. XR_007063043.1 RNA Sequence

    3. XR_007063045.1 RNA Sequence

    4. XR_007063046.1 RNA Sequence

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060936.1 Alternate T2T-CHM13v2.0

      Range
      128825188..128855979 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054371064.1XP_054227039.1  solute carrier family 15 member 4 isoform X1

    2. XM_054371065.1XP_054227040.1  solute carrier family 15 member 4 isoform X2

    RNA

    1. XR_008488526.1 RNA Sequence

    2. XR_008488525.1 RNA Sequence

    3. XR_008488527.1 RNA Sequence

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