Aliases for SLC48A1 Gene

Aliases for SLC48A1 Gene

  • Solute Carrier Family 48 Member 1 2 3 4 5
  • Solute Carrier Family 48 (Heme Transporter), Member 1 2 3
  • Heme-Responsive Gene 1 Protein Homolog 3 4
  • Heme Transporter HRG1 3 4
  • HHRG-1 3 4
  • HRG-1 3 4
  • HRG1 3 4

External Ids for SLC48A1 Gene

Previous GeneCards Identifiers for SLC48A1 Gene

  • GC12P046454
  • GC12P048165
  • GC12P045198
  • GC12P048147

Summaries for SLC48A1 Gene

GeneCards Summary for SLC48A1 Gene

SLC48A1 (Solute Carrier Family 48 Member 1) is a Protein Coding gene. Gene Ontology (GO) annotations related to this gene include heme transporter activity.

UniProtKB/Swiss-Prot Summary for SLC48A1 Gene

  • Heme transporter that regulates intracellular heme availability through the endosomal or lysosomal compartment.

Additional gene information for SLC48A1 Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for SLC48A1 Gene

Genomics for SLC48A1 Gene

GeneHancer (GH) Regulatory Elements for SLC48A1 Gene

Promoters and enhancers for SLC48A1 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around SLC48A1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the SLC48A1 gene promoter:
  • ATF
  • Bach1
  • E47
  • FosB
  • FOXF2
  • Lhx3a
  • LHX3b
  • Tal-1beta
  • YY1

Genomic Locations for SLC48A1 Gene

Genomic Locations for SLC48A1 Gene
chr12:47,753,842-47,782,753
(GRCh38/hg38)
Size:
28,912 bases
Orientation:
Plus strand
chr12:48,147,699-48,176,536
(GRCh37/hg19)
Size:
28,838 bases
Orientation:
Plus strand

Genomic View for SLC48A1 Gene

Genes around SLC48A1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SLC48A1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SLC48A1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SLC48A1 Gene

Proteins for SLC48A1 Gene

  • Protein details for SLC48A1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q6P1K1-HRG1_HUMAN
    Recommended name:
    Heme transporter HRG1
    Protein Accession:
    Q6P1K1
    Secondary Accessions:
    • Q9BUB3
    • Q9NX17

    Protein attributes for SLC48A1 Gene

    Size:
    146 amino acids
    Molecular mass:
    16419 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=AAH26344.2; Type=Erroneous translation; Note=Wrong choice of CDS.; Evidence={ECO:0000305}; Sequence=BAA91205.1; Type=Erroneous translation; Note=Wrong choice of CDS.; Evidence={ECO:0000305}; Sequence=EAW57951.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305};

    Alternative splice isoforms for SLC48A1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for SLC48A1 Gene

Post-translational modifications for SLC48A1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for SLC48A1 Gene

Domains & Families for SLC48A1 Gene

Gene Families for SLC48A1 Gene

HGNC:
IUPHAR :
Human Protein Atlas (HPA):
  • Predicted intracellular proteins
  • Predicted membrane proteins
  • Transporters

Protein Domains for SLC48A1 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for SLC48A1 Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ57264 (B4DFF6_HUMAN)
  • Solute carrier family 48 member 1 (HRG1_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q6P1K1

UniProtKB/Swiss-Prot:

HRG1_HUMAN :
  • Belongs to the HRG family.
Family:
  • Belongs to the HRG family.
genes like me logo Genes that share domains with SLC48A1: view

Function for SLC48A1 Gene

Molecular function for SLC48A1 Gene

UniProtKB/Swiss-Prot Function:
Heme transporter that regulates intracellular heme availability through the endosomal or lysosomal compartment.

Phenotypes From GWAS Catalog for SLC48A1 Gene

Gene Ontology (GO) - Molecular Function for SLC48A1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 25416956
GO:0015232 heme transporter activity IEA,IDA 18418376
GO:0020037 heme binding IDA 18418376
genes like me logo Genes that share ontologies with SLC48A1: view
genes like me logo Genes that share phenotypes with SLC48A1: view

Animal Model Products

CRISPR Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for SLC48A1 Gene

Localization for SLC48A1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SLC48A1 Gene

Endosome membrane; Multi-pass membrane protein. Lysosome membrane; Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for SLC48A1 gene
Compartment Confidence
plasma membrane 4
endosome 4
lysosome 4
extracellular 1
endoplasmic reticulum 0

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for SLC48A1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005764 lysosome IEA --
GO:0005765 lysosomal membrane IDA 18418376
GO:0005768 endosome IEA --
GO:0005886 plasma membrane IDA 18418376
GO:0010008 endosome membrane IDA 18418376
genes like me logo Genes that share ontologies with SLC48A1: view

Pathways & Interactions for SLC48A1 Gene

PathCards logo

SuperPathways for SLC48A1 Gene

No Data Available

Interacting Proteins for SLC48A1 Gene

STRING Interaction Network Preview (showing top 3 STRING interactants - click image to see details)
STRING Interaction Network
Selected Interacting proteins: Q6P1K1-HRG1_HUMAN ENSP00000415998 for SLC48A1 Gene via UniProtKB STRING IID

Gene Ontology (GO) - Biological Process for SLC48A1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0015886 heme transport IEA,IMP 23395172
genes like me logo Genes that share ontologies with SLC48A1: view

No data available for Pathways by source and SIGNOR curated interactions for SLC48A1 Gene

Drugs & Compounds for SLC48A1 Gene

(1) Drugs for SLC48A1 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
heme Pharma Agonist 0
genes like me logo Genes that share compounds with SLC48A1: view

Transcripts for SLC48A1 Gene

mRNA/cDNA for SLC48A1 Gene

CRISPR Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for SLC48A1 Gene

No ASD Table

Relevant External Links for SLC48A1 Gene

GeneLoc Exon Structure for
SLC48A1
ECgene alternative splicing isoforms for
SLC48A1

Expression for SLC48A1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for SLC48A1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for SLC48A1 Gene

This gene is overexpressed in Peripheral blood mononuclear cells (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for SLC48A1 Gene



Protein tissue co-expression partners for SLC48A1 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of SLC48A1 Gene:

SLC48A1

SOURCE GeneReport for Unigene cluster for SLC48A1 Gene:

Hs.438867

mRNA Expression by UniProt/SwissProt for SLC48A1 Gene:

Q6P1K1-HRG1_HUMAN
Tissue specificity: Highly expressed in the brain, kidney, heart and skeletal muscle. Moderately expressed in the liver, lung, placenta and small intestine.

Evidence on tissue expression from TISSUES for SLC48A1 Gene

  • Nervous system(4.9)
  • Skin(4.2)
genes like me logo Genes that share expression patterns with SLC48A1: view

No data available for mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for SLC48A1 Gene

Orthologs for SLC48A1 Gene

This gene was present in the common ancestor of chordates.

Orthologs for SLC48A1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia SLC48A1 33 32
  • 98.4 (n)
OneToOne
cow
(Bos Taurus)
Mammalia SLC48A1 33 32
  • 92.01 (n)
OneToOne
dog
(Canis familiaris)
Mammalia SLC48A1 33 32
  • 92.01 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Slc48a1 17 33 32
  • 90.18 (n)
rat
(Rattus norvegicus)
Mammalia Slc48a1 32
  • 87.9 (n)
chicken
(Gallus gallus)
Aves SLC48A1 33 32
  • 73.56 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia SLC48A1 33
  • 67 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia slc48a1 32
  • 68.97 (n)
Str.4018 32
African clawed frog
(Xenopus laevis)
Amphibia Xl.19746 32
zebrafish
(Danio rerio)
Actinopterygii slc48a1b 33 32
  • 67.64 (n)
OneToMany
slc48a1a 33
  • 61 (a)
OneToMany
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.10375 32
sea squirt
(Ciona savignyi)
Ascidiacea CSA.4739 33
  • 45 (a)
OneToOne
Species where no ortholog for SLC48A1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • oppossum (Monodelphis domestica)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for SLC48A1 Gene

ENSEMBL:
Gene Tree for SLC48A1 (if available)
TreeFam:
Gene Tree for SLC48A1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for SLC48A1: view image

Paralogs for SLC48A1 Gene

No data available for Paralogs for SLC48A1 Gene

Variants for SLC48A1 Gene

Sequence variations from dbSNP and Humsavar for SLC48A1 Gene

SNP ID Clin Chr 12 pos Variation AA Info Type
rs1000127889 -- 47,770,321(+) T/G genic_upstream_transcript_variant, intron_variant
rs1000170554 -- 47,752,088(+) G/A upstream_transcript_variant
rs1000179536 -- 47,755,691(+) T/A 5_prime_UTR_variant, genic_upstream_transcript_variant, intron_variant
rs1000244351 -- 47,770,855(+) A/C genic_upstream_transcript_variant, intron_variant
rs1000357575 -- 47,764,162(+) G/A genic_upstream_transcript_variant, intron_variant

Structural Variations from Database of Genomic Variants (DGV) for SLC48A1 Gene

Variant ID Type Subtype PubMed ID
dgv94n21 CNV loss 19592680
nsv470289 CNV gain 18288195

Variation tolerance for SLC48A1 Gene

Gene Damage Index Score: 0.11; 2.54% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for SLC48A1 Gene

Human Gene Mutation Database (HGMD)
SLC48A1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
SLC48A1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SLC48A1 Gene

Disorders for SLC48A1 Gene

Additional Disease Information for SLC48A1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology

No disorders were found for SLC48A1 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for SLC48A1 Gene

Publications for SLC48A1 Gene

  1. Haem homeostasis is regulated by the conserved and concerted functions of HRG-1 proteins. (PMID: 18418376) Rajagopal A … Hamza I (Nature 2008) 2 3 4 56
  2. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PMID: 20628086) Bailey SD … DREAM investigators (Diabetes care 2010) 3 43 56
  3. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 56
  4. A proteome-scale map of the human interactome network. (PMID: 25416956) Rolland T … Vidal M (Cell 2014) 3 56
  5. HRG-1 enhances cancer cell invasive potential and couples glucose metabolism to cytosolic/extracellular pH gradient regulation by the vacuolar-H(+) ATPase. (PMID: 24141772) Fogarty FM … O'Connor R (Oncogene 2014) 3 56

Products for SLC48A1 Gene

Sources for SLC48A1 Gene