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    SLC48A1 solute carrier family 48 member 1 [ Homo sapiens (human) ]

    Gene ID: 55652, updated on 3-Dec-2024

    Summary

    Official Symbol
    SLC48A1provided by HGNC
    Official Full Name
    solute carrier family 48 member 1provided by HGNC
    Primary source
    HGNC:HGNC:26035
    See related
    Ensembl:ENSG00000211584 MIM:612187; AllianceGenome:HGNC:26035
    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
    HRG; HRG1; HRG-1; hHRG-1
    Summary
    Enables heme binding activity and heme transmembrane transporter activity. Involved in heme transport. Located in endosome membrane; lysosomal membrane; and plasma membrane. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Ubiquitous expression in brain (RPKM 18.5), thyroid (RPKM 14.7) and 25 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See SLC48A1 in Genome Data Viewer
    Location:
    12q13.11
    Exon count:
    7
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (47753934..47782751)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (47715158..47744144)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (48167021..48176534)

    Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6256 Neighboring gene RNA polymerase II associated protein 3 Neighboring gene H3K27ac hESC enhancers GRCh37_chr12:48099027-48099528 and GRCh37_chr12:48099529-48100028 Neighboring gene RPAP3 divergent transcript Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6258 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6259 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4394 Neighboring gene endonuclease, poly(U) specific Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4395 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr12:48131928-48133127 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6260 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6261 Neighboring gene Rap guanine nucleotide exchange factor 3 Neighboring gene H3K27ac hESC enhancer GRCh37_chr12:48146243-48146784 Neighboring gene Sharpr-MPRA regulatory region 8178 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6262 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6263 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:48151874-48152542 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:48152543-48153211 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:48167242-48167748 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:48167749-48168253 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4398 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4399 Neighboring gene histone deacetylase 7 Neighboring gene uncharacterized LOC124902926 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6264 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4400 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6266 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6265 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6267 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:48211237-48211897 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:48212615-48213188 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4402 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4403 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:48214527-48215448 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6268 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6269 Neighboring gene long intergenic non-protein coding RNA 2354

    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
    Genome-wide association analyses identify 18 new loci associated with serum urate concentrations.
    EBI GWAS Catalog

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • FLJ20489

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables heme binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables heme binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables heme transmembrane transporter activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables heme transmembrane transporter activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in erythrocyte differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in heme export IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in heme export from vacuole to cytoplasm IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in heme metabolic process IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in heme transport IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in heme transport IDA
    Inferred from Direct Assay
    more info
    PubMed 
    acts_upstream_of_or_within heme transport IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in localization of cell IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in lysosomal transport IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in phagocytosis IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    located_in endolysosome IEA
    Inferred from Electronic Annotation
    more info
     
    located_in endosome membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    is_active_in lysosomal membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in lysosomal membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in phagolysosome membrane IEA
    Inferred from Electronic Annotation
    more info
     
    is_active_in plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in plasma membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 

    General protein information

    Preferred Names
    heme transporter HRG1
    Names
    heme-responsive gene 1 protein homolog
    solute carrier family 48 (heme transporter), member 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_017842.3NP_060312.2  heme transporter HRG1

      See identical proteins and their annotated locations for NP_060312.2

      Status: VALIDATED

      Source sequence(s)
      AC004466, BC026344
      Consensus CDS
      CCDS8755.2
      UniProtKB/Swiss-Prot
      Q6P1K1, Q9BUB3, Q9NX17
      UniProtKB/TrEMBL
      B4DFF6
      Related
      ENSP00000415998.2, ENST00000442218.3
      Conserved Domains (1) summary
      pfam16954
      Location:72122
      HRG; Haem-transporter, endosomal/lysosomal, haem-responsive gene

    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
      47753934..47782751
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047429134.1XP_047285090.1  heme transporter HRG1 isoform X1

    2. XM_005269016.4XP_005269073.1  heme transporter HRG1 isoform X2

      Conserved Domains (1) summary
      pfam16954
      Location:98149
      HRG; Haem-transporter, endosomal/lysosomal, haem-responsive gene
    3. XM_017019617.3XP_016875106.1  heme transporter HRG1 isoform X3

      UniProtKB/Swiss-Prot
      Q6P1K1, Q9BUB3, Q9NX17
      UniProtKB/TrEMBL
      B4DFF6
      Conserved Domains (1) summary
      pfam16954
      Location:72122
      HRG; Haem-transporter, endosomal/lysosomal, haem-responsive gene

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060936.1 Alternate T2T-CHM13v2.0

      Range
      47715158..47744144
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054372522.1XP_054228497.1  heme transporter HRG1 isoform X1

    2. XM_054372523.1XP_054228498.1  heme transporter HRG1 isoform X2

    3. XM_054372524.1XP_054228499.1  heme transporter HRG1 isoform X3

      UniProtKB/Swiss-Prot
      Q6P1K1, Q9BUB3, Q9NX17
      UniProtKB/TrEMBL
      B4DFF6