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Aliases for SLC48A1 Gene

Aliases for SLC48A1 Gene

  • Solute Carrier Family 48 (Heme Transporter), Member 1 2 3
  • HRG1 3 4 6
  • Heme-Responsive Gene 1 Protein Homolog 3 4
  • Solute Carrier Family 48 Member 1 3 4
  • HHRG-1 3 4
  • HRG-1 3 4
  • Heme Transporter HRG1 3

External Ids for SLC48A1 Gene

Summaries for SLC48A1 Gene

GeneCards Summary for SLC48A1 Gene

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

UniProtKB/Swiss-Prot for SLC48A1 Gene

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

No data available for Entrez Gene Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SLC48A1 Gene

Genomics for SLC48A1 Gene

Genomic Location for SLC48A1 Gene

Start:
47,753,916 bp from pter
End:
47,782,753 bp from pter
Size:
28,838 bases
Orientation:
Plus strand

Genomic View for SLC48A1 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for SLC48A1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SLC48A1 Gene

Regulatory Elements 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

Proteomics data for SLC48A1 Gene at MOPED

Post-translational modifications for SLC48A1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for SLC48A1 Gene

No data available for DME Specific Peptides for SLC48A1 Gene

Domains for SLC48A1 Gene

Gene Families for SLC48A1 Gene

HGNC:
  • SLC :Solute carriers
IUPHAR :

Protein Domains for SLC48A1 Gene

InterPro:
ProtoNet:

UniProtKB/Swiss-Prot:

HRG1_HUMAN
Family:
  • Belongs to the HRG family.:
    • Q6P1K1
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.

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 --
genes like me logo Genes that share ontologies with SLC48A1: view

Phenotypes for SLC48A1 Gene

MGI mutant phenotypes for SLC48A1:
inferred from 1 alleles
genes like me logo Genes that share phenotypes with SLC48A1: view

miRNA for SLC48A1 Gene

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targeting 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
Jensen Localization Image for SLC48A1 Gene COMPARTMENTS Subcellular localization image for SLC48A1 gene
Compartment Confidence
endosome 5
lysosome 5
vacuole 5
plasma membrane 3
cytosol 1
endoplasmic reticulum 1
extracellular 1

Gene Ontology (GO) - Cellular Components for SLC48A1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005764 lysosome --
GO:0005765 lysosomal membrane IEA --
GO:0005768 endosome --
GO:0010008 endosome membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with SLC48A1: view

Pathways for SLC48A1 Gene

SuperPathways for SLC48A1 Gene

No Data Available

Interacting Proteins for SLC48A1 Gene

STRING Interaction Network Preview (showing 1 interactants - click image to see details)
http://string-db.org/version_10/api/image/networkList?limit=0&targetmode=proteins&caller_identity=gene_cards&network_flavor=evidence&identifiers=9606.ENSP00000415998%0d%0a9606.ENSP00000385269%0d%0a
Selected Interacting proteins: ENSP00000415998 Q6P1K1-HRG1_HUMAN for SLC48A1 Gene via STRING UniProtKB I2D

Gene Ontology (GO) - Biological Process for SLC48A1 Gene

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

No data available for Pathways by source for SLC48A1 Gene

Compounds for SLC48A1 Gene

(1) HMDB Compounds for SLC48A1 Gene

Compound Synonyms Cas Number PubMed IDs
Heme
  • (protoporphyrinato)iron
14875-96-8
genes like me logo Genes that share compounds with SLC48A1: view

Transcripts for SLC48A1 Gene

Unigene Clusters for SLC48A1 Gene

Solute carrier family 48 (heme transporter), member 1:
Representative Sequences:

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 for SLC48A1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Integrated Proteomics: protein expression from ProteomicsDB and MOPED for SLC48A1 Gene

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.
genes like me logo Genes that share expressions with SLC48A1: view

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 36
  • 98.4 (n)
  • 98.63 (a)
SLC48A1 37
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia SLC48A1 36
  • 92.01 (n)
  • 95.89 (a)
SLC48A1 37
  • 96 (a)
OneToOne
dog
(Canis familiaris)
Mammalia SLC48A1 36
  • 92.01 (n)
  • 94.52 (a)
SLC48A1 37
  • 95 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Slc48a1 36
  • 90.18 (n)
  • 92.47 (a)
Slc48a1 16
Slc48a1 37
  • 92 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Slc48a1 36
  • 87.9 (n)
  • 89.73 (a)
chicken
(Gallus gallus)
Aves SLC48A1 36
  • 73.56 (n)
  • 73.1 (a)
SLC48A1 37
  • 82 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia SLC48A1 37
  • 67 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia Xl.19746 36
tropical clawed frog
(Silurana tropicalis)
Amphibia slc48a1 36
  • 68.97 (n)
  • 64.83 (a)
Str.4018 36
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.10375 36
zebrafish
(Danio rerio)
Actinopterygii slc48a1a 37
  • 61 (a)
OneToMany
slc48a1b 36
  • 67.64 (n)
  • 67.88 (a)
slc48a1b 37
  • 65 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.4739 37
  • 45 (a)
OneToOne
Species with no ortholog for SLC48A1:
  • 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)

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 Sequence Context AA Info Type MAF
rs10683 -- 47,781,607(+) TGCCC(C/T)TCAGC utr-variant-3-prime
rs1053458 -- 47,781,482(+) CTTTT(C/T)TGCCC utr-variant-3-prime
rs1055650 -- 47,769,562(+) TAACT(G/T)GATAT intron-variant
rs2525042 -- 47,781,310(-) ATGGG(C/T)ACAGG utr-variant-3-prime
rs2544025 -- 47,770,975(-) GTGGT(C/G)CGGAG intron-variant

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

Variant ID Type Subtype PubMed ID
nsv470289 CNV Gain 18288195
dgv94n21 CNV Loss 19592680
nsv899059 CNV Loss 21882294

Relevant External Links for SLC48A1 Gene

HapMap Linkage Disequilibrium report
SLC48A1
Human Gene Mutation Database (HGMD)
SLC48A1

Disorders for SLC48A1 Gene

Relevant External Links for SLC48A1

Genetic Association Database (GAD)
SLC48A1
Human Genome Epidemiology (HuGE) Navigator
SLC48A1
genes like me logo Genes that share disorders with SLC48A1: view

No data available for UniProtKB/Swiss-Prot 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
  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 S.D. … Anand S. (Diabetes Care 2010) 3 49
  3. The BTB and CNC homology 1 (BACH1) target genes are involved in the oxidative stress response and in control of the cell cycle. (PMID: 21555518) Warnatz H.J. … Yaspo M.L. (J. Biol. Chem. 2011) 3
  4. Interactions of pathological hallmark proteins: tubulin polymerization promoting protein/p25, beta-amyloid, and alpha-synuclein. (PMID: 21832049) OlA!h J. … OvA!di J. (J. Biol. Chem. 2011) 3
  5. Topologically conserved residues direct heme transport in HRG-1-related proteins. (PMID: 22174408) Yuan X. … Hamza I. (J. Biol. Chem. 2012) 3

Products for SLC48A1 Gene

Sources for SLC48A1 Gene

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