Human Gene SLC48A1 (ENST00000442218.3_4) from GENCODE V47lift37
  Description: solute carrier family 48 member 1 (from RefSeq NM_017842.3)
Gencode Transcript: ENST00000442218.3_4
Gencode Gene: ENSG00000211584.14_9
Transcript (Including UTRs)
   Position: hg19 chr12:48,167,021-48,176,534 Size: 9,514 Total Exon Count: 3 Strand: +
Coding Region
   Position: hg19 chr12:48,167,088-48,174,064 Size: 6,977 Coding Exon Count: 3 

Page IndexSequence and LinksUniProtKB CommentsPrimersCTDGene Alleles
RNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsOther NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr12:48,167,021-48,176,534)mRNA (may differ from genome)Protein (146 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
HGNCMGIOMIMPubMedUniProtKBBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: HRG1_HUMAN
DESCRIPTION: RecName: Full=Heme transporter HRG1; AltName: Full=Heme-responsive gene 1 protein homolog; Short=HRG-1; Short=hHRG-1; AltName: Full=Solute carrier family 48 member 1;
FUNCTION: Heme transporter that regulates intracellular heme availability through the endosomal or lysosomal compartment.
SUBCELLULAR LOCATION: Endosome membrane; Multi-pass membrane protein. Lysosome membrane; Multi-pass membrane protein.
TISSUE SPECIFICITY: Highly expressed in the brain, kidney, heart and skeletal muscle. Moderately expressed in the liver, lung, placenta and small intestine.
SIMILARITY: Belongs to the HRG family.
SEQUENCE CAUTION: Sequence=AAH26344.2; Type=Erroneous translation; Note=Wrong choice of CDS; Sequence=BAA91205.1; Type=Erroneous translation; Note=Wrong choice of CDS; Sequence=EAW57951.1; Type=Erroneous gene model prediction;

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 9.02 RPKM in Brain - Spinal cord (cervical c-1)
Total median expression: 185.43 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -24.0067-0.358 Picture PostScript Text
3' UTR -988.102470-0.400 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR026218 - HRG

Pfam Domains:
PF16954 - Haem-transporter, endosomal/lysosomal, haem-responsive gene

ModBase Predicted Comparative 3D Structure on Q6P1K1
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
Gene SorterGene Sorter    
 RGDEnsembl   
      
      

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0005515 protein binding
GO:0015232 heme transporter activity
GO:0020037 heme binding

Biological Process:
GO:0015886 heme transport

Cellular Component:
GO:0005764 lysosome
GO:0005765 lysosomal membrane
GO:0005768 endosome
GO:0005886 plasma membrane
GO:0010008 endosome membrane
GO:0016020 membrane
GO:0016021 integral component of membrane


-  Descriptions from all associated GenBank mRNAs
  BC002759 - Homo sapiens solute carrier family 48 (heme transporter), member 1, mRNA (cDNA clone IMAGE:3632656), complete cds.
AK000496 - Homo sapiens cDNA FLJ20489 fis, clone KAT08285.
BC065033 - Homo sapiens solute carrier family 48 (heme transporter), member 1, mRNA (cDNA clone MGC:74980 IMAGE:6147682), complete cds.
BC026344 - Homo sapiens solute carrier family 48 (heme transporter), member 1, mRNA (cDNA clone MGC:26667 IMAGE:4798578), complete cds.
AK294075 - Homo sapiens cDNA FLJ57264 complete cds.
JD124785 - Sequence 105809 from Patent EP1572962.
CU688010 - Synthetic construct Homo sapiens gateway clone IMAGE:100021566 5' read FLJ20489 mRNA.
KJ894228 - Synthetic construct Homo sapiens clone ccsbBroadEn_03622 SLC48A1 gene, encodes complete protein.
JD406804 - Sequence 387828 from Patent EP1572962.
BC011823 - Homo sapiens cDNA clone IMAGE:3690190.
JD407943 - Sequence 388967 from Patent EP1572962.
JD213748 - Sequence 194772 from Patent EP1572962.
JD290027 - Sequence 271051 from Patent EP1572962.
KJ902846 - Synthetic construct Homo sapiens clone ccsbBroadEn_12240 SLC48A1 gene, encodes complete protein.
JD553619 - Sequence 534643 from Patent EP1572962.
JD133436 - Sequence 114460 from Patent EP1572962.
JD142419 - Sequence 123443 from Patent EP1572962.
JD476388 - Sequence 457412 from Patent EP1572962.
JD376456 - Sequence 357480 from Patent EP1572962.
JD455901 - Sequence 436925 from Patent EP1572962.
JD158073 - Sequence 139097 from Patent EP1572962.
JD471075 - Sequence 452099 from Patent EP1572962.
JD512102 - Sequence 493126 from Patent EP1572962.
KJ906236 - Synthetic construct Homo sapiens clone ccsbBroadEn_15906 SLC48A1 gene, encodes complete protein.
JD531662 - Sequence 512686 from Patent EP1572962.
JD295711 - Sequence 276735 from Patent EP1572962.
JD513568 - Sequence 494592 from Patent EP1572962.
JD511188 - Sequence 492212 from Patent EP1572962.
JD156347 - Sequence 137371 from Patent EP1572962.
JD075525 - Sequence 56549 from Patent EP1572962.
JD041572 - Sequence 22596 from Patent EP1572962.
JD370005 - Sequence 351029 from Patent EP1572962.
AK025856 - Homo sapiens cDNA: FLJ22203 fis, clone HRC01383.
JD497296 - Sequence 478320 from Patent EP1572962.
JD365513 - Sequence 346537 from Patent EP1572962.
JD386164 - Sequence 367188 from Patent EP1572962.
JD376589 - Sequence 357613 from Patent EP1572962.
JD097167 - Sequence 78191 from Patent EP1572962.
JD475578 - Sequence 456602 from Patent EP1572962.
JD048693 - Sequence 29717 from Patent EP1572962.
JD149217 - Sequence 130241 from Patent EP1572962.
JD382213 - Sequence 363237 from Patent EP1572962.
JD517130 - Sequence 498154 from Patent EP1572962.
JD065402 - Sequence 46426 from Patent EP1572962.
JD076849 - Sequence 57873 from Patent EP1572962.
JD359519 - Sequence 340543 from Patent EP1572962.
JD292502 - Sequence 273526 from Patent EP1572962.
JD537553 - Sequence 518577 from Patent EP1572962.

-  Other Names for This Gene
  Alternate Gene Symbols: ENST00000442218.1, ENST00000442218.2, HRG1, HRG1_HUMAN, NM_017842, Q6P1K1, Q9BUB3, Q9NX17, SLC48A1 , uc320khd.1, uc320khd.2
UCSC ID: ENST00000442218.3_4
RefSeq Accession: NM_017842.3
Protein: Q6P1K1 (aka HRG1_HUMAN)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.