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

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, Oct 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

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_000012.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
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.
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.
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.
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.
Observational study of gene-disease association. (HuGE Navigator)
Title: Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.
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.
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.

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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 EBI GWAS CatalogPubMed

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

STS-H18096 (e-PCR)
- UniSTS:32417

RH93449 (e-PCR)
- UniSTS:87470

STS-T76997 (e-PCR)
- UniSTS:57556

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)

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

NC_000012.12 Reference GRCh38.p14 Primary Assembly

Range

47753934..47782751

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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