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

    Gene ID: 55652, updated on 10-Dec-2024

    Summary

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    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, Dec 2024]
    Expression
    Ubiquitous expression in brain (RPKM 18.5), thyroid (RPKM 14.7) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    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

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    Go to nucleotide: Graphics FASTA GenBank

    Bibliography

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    Related articles in PubMed

    1. HRG-1 enhances cancer cell invasive potential and couples glucose metabolism to cytosolic/extracellular pH gradient regulation by the vacuolar-H(+) ATPase. Fogarty FM, et al. Oncogene, 2014 Sep 18. PMID 24141772
    2. Topologically conserved residues direct heme transport in HRG-1-related proteins. Yuan X, et al. J Biol Chem, 2012 Feb 10. PMID 22174408, Free PMC Article
    3. Heme-binding protein HRG-1 is induced by insulin-like growth factor I and associates with the vacuolar H+-ATPase to control endosomal pH and receptor trafficking. O'Callaghan KM, et al. J Biol Chem, 2010 Jan 1. PMID 19875448, Free PMC Article
    4. Haem homeostasis is regulated by the conserved and concerted functions of HRG-1 proteins. Rajagopal A, et al. Nature, 2008 Jun 19. PMID 18418376, Free PMC Article
    5. HRG1 is essential for heme transport from the phagolysosome of macrophages during erythrophagocytosis. White C, et al. Cell Metab, 2013 Feb 5. PMID 23395172, Free PMC Article

    See all (19) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. HRG-1 may represent a novel target for selectively disrupting V-ATPase activity and the metastatic potential of cancer cells.
      Title: HRG-1 enhances cancer cell invasive potential and couples glucose metabolism to cytosolic/extracellular pH gradient regulation by the vacuolar-H(+) ATPase.
    2. These results reveal HRG1 as the long-sought heme transporter for heme-iron recycling in macrophages and suggest that genetic variations in HRG1 could be modifiers of human iron metabolism.
      Title: HRG1 is essential for heme transport from the phagolysosome of macrophages during erythrophagocytosis.
    3. a model in which heme is translocated across membranes facilitated by conserved amino acids positioned on the exoplasmic, cytoplasmic, and transmembrane regions of HRG-1-related proteins.
      Title: Topologically conserved residues direct heme transport in HRG-1-related proteins.
    4. SLC48A1 is a target gene of the BACH1 transcription factor according to ChIP-seq analysis in HEK 293 cells.
      Title: The BTB and CNC homology 1 (BACH1) target genes are involved in the oxidative stress response and in control of the cell cycle.
    5. 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.
    6. Observational study of gene-disease association. (HuGE Navigator)
      Title: Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.
    7. HRG-1 regulates V-ATPase activity, which is essential for endosomal acidification, heme binding, and receptor trafficking in mammalian cells.
      Title: Heme-binding protein HRG-1 is induced by insulin-like growth factor I and associates with the vacuolar H+-ATPase to control endosomal pH and receptor trafficking.
    8. Human and worm proteins localize together, and bind and transport haem, thus establishing an evolutionarily conserved function for HRG-1.
      Title: Haem homeostasis is regulated by the conserved and concerted functions of HRG-1 proteins.
    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

    EBI GWAS Catalog

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

    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

    • 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

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    Preferred Names
    heme transporter HRG1
    Names
    heme-responsive gene 1 protein homolog
    solute carrier family 48 (heme transporter), member 1

    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_017842.3 → NP_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:72 → 122
      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_047429134.1 → XP_047285090.1  heme transporter HRG1 isoform X1

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

      Conserved Domains (1) summary
      pfam16954
      Location:98 → 149
      HRG; Haem-transporter, endosomal/lysosomal, haem-responsive gene

    3. XM_017019617.3 → XP_016875106.1  heme transporter HRG1 isoform X3

      UniProtKB/Swiss-Prot
      Q6P1K1, Q9BUB3, Q9NX17
      UniProtKB/TrEMBL
      B4DFF6
      Conserved Domains (1) summary
      pfam16954
      Location:72 → 122
      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_054372522.1 → XP_054228497.1  heme transporter HRG1 isoform X1

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

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

      UniProtKB/Swiss-Prot
      Q6P1K1, Q9BUB3, Q9NX17
      UniProtKB/TrEMBL
      B4DFF6
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q6P1K1.1 GenPept UniProtKB/Swiss-Prot:Q6P1K1

    Gene LinkOut

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

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