Gene Gene information from NCBI Gene database.
Entrez ID 55652
Gene name Solute carrier family 48 member 1
Gene symbol SLC48A1
Synonyms (NCBI Gene)
HRGHRG-1HRG1hHRG-1
Chromosome 12
Chromosome location 12q13.11
miRNA miRNA information provided by mirtarbase database.
922
miRTarBase ID miRNA Experiments Reference
MIRT024829 hsa-miR-215-5p Microarray 19074876
MIRT026764 hsa-miR-192-5p Microarray 19074876
MIRT038132 hsa-miR-423-5p CLASH 23622248
MIRT036961 hsa-miR-877-3p CLASH 23622248
MIRT492242 hsa-miR-19b-3p PAR-CLIP 23592263
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
32
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 25416956, 32296183
GO:0005737 Component Cytoplasm IEA
GO:0005764 Component Lysosome IEA
GO:0005765 Component Lysosomal membrane IBA
GO:0005765 Component Lysosomal membrane IDA 18418376
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
612187 26035 ENSG00000211584
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q6P1K1
Protein name Heme transporter HRG1 (Heme-responsive gene 1 protein homolog) (HRG-1) (hHRG-1) (Solute carrier family 48 member 1)
Protein function Heme transporter that regulates intracellular heme availability through the endosomal or lysosomal compartment (PubMed:18418376). In macrophages of the reticuloendothelial system, is the heme transporter for heme-iron recycling. Essential for ma
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF16954 HRG 8 67 Haem-transporter, endosomal/lysosomal, haem-responsive gene Family
PF16954 HRG 71 122 Haem-transporter, endosomal/lysosomal, haem-responsive gene Family
Tissue specificity TISSUE SPECIFICITY: Highly expressed in the brain, kidney, heart and skeletal muscle. Moderately expressed in the liver, lung, placenta and small intestine. Strongly expressed in macrophages of the reticuloendothelial system (PubMed:23395172). {ECO:000026
Sequence
Sequence length 146
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
2
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
GOUT GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
HYPOTHYROIDISM GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Activated Protein C Resistance Activated Protein C Resistance BEFREE 23188048
★☆☆☆☆
Found in Text Mining only
Activated Protein C Resistance Activated Protein C Resistance GWASDB_DG 23188048
★☆☆☆☆
Found in Text Mining only
Acute pancreatitis Pancreatitis BEFREE 31211768
★☆☆☆☆
Found in Text Mining only
Anemia Aplastic Aplastic anemia Pubtator 35571618 Associate
★☆☆☆☆
Found in Text Mining only
Blood Coagulation Disorders Blood coagulation disorder Pubtator 34232570 Associate
★☆☆☆☆
Found in Text Mining only
Brain Neoplasms Brain Neoplasms BEFREE 20046875
★☆☆☆☆
Found in Text Mining only
Breast Carcinoma Breast Carcinoma BEFREE 11134179, 12970748, 16847284, 17539658, 17651959, 17697330, 18425425, 20379846, 21467033, 24615340, 25445205, 26885614, 29434878
★☆☆☆☆
Found in Text Mining only
Breast Carcinoma Breast Carcinoma CTD_human_DG 19552798
★☆☆☆☆
Found in Text Mining only
Breast Neoplasms Breast neoplasm Pubtator 11134179, 18355957, 19386091, 21467033 Associate
★☆☆☆☆
Found in Text Mining only
Carcinogenesis Carcinogenesis Pubtator 32210020 Associate
★☆☆☆☆
Found in Text Mining only