• Gene id: 55652

Gene Summary

• Gene Symbol: SLC48A1   Gene   UCSC   Ensembl
• Aliases: HRG-1, HRG1, hHRG-1
• Gene name: solute carrier family 48 member 1
• Alternate names: heme transporter HRG1, heme-responsive gene 1 protein homolog, solute carrier family 48 (heme transporter), member 1,
• Gene location: 12q13.11 (92574094: 92451683)     Exons: 34     NC_000010.11
• OMIM: 612187

Protein Summary

• Protein general information: Q6P1K1  
  • Name: Heme transporter HRG1 (Heme responsive gene 1 protein homolog) (HRG 1) (hHRG 1) (Solute carrier family 48 member 1)
  • Length: 146  
  • Mass: 16419
  • Tissue specificity: Highly expressed in the brain, kidney, heart and skeletal muscle. Moderately expressed in the liver, lung, placenta and small intestine. {ECO
• Sequence:

  MAPSRLQLGLRAAYSGISSVAGFSIFLVWTVVYRQPGTAAMGGLAGVLALWVLVTHVMYMQDYWRTWLKGLRGFF
  FVGVLFSAVSIAAFCTFLVLAITRHQSLTDPTSYYLSSVWSFISFKWAFLLSLYAHRYRADFADISILSDF

• Structural information:
  • Interpro: IPR026218  
  • STRING: ENSP00000415998
• Other Databases: GeneCards:  SLC48A1  Malacards:  SLC48A1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0020037	heme binding	IBA	molecular function
GO:0015886	heme transport	IBA	biological process
GO:0015232	heme transmembrane transporter activity	IBA	molecular function
GO:0005765	lysosomal membrane	IBA	cellular component
GO:0005886	plasma membrane	IBA	cellular component
GO:0015232	heme transmembrane transporter activity	IEA	molecular function
GO:0015886	heme transport	IEA	biological process
GO:0005764	lysosome	IEA	cellular component
GO:0005768	endosome	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0015886	heme transport	IMP	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0020037	heme binding	IDA	molecular function
GO:0015232	heme transmembrane transporter activity	IDA	molecular function
GO:0005765	lysosomal membrane	IDA	cellular component
GO:0015886	heme transport	IDA	biological process
GO:0005886	plasma membrane	IDA	cellular component
GO:0010008	endosome membrane	IDA	cellular component
GO:0005765	lysosomal membrane	IEA	cellular component
GO:0010008	endosome membrane	IEA	cellular component

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881