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Slc48a1 Gene Detail
Summary
  • Symbol
    Slc48a1
  • Name
    solute carrier family 48 (heme transporter), member 1
  • Synonyms
    4930570C03Rik
  • Feature Type
    protein coding gene
  • IDs
    MGI:1914989
    NCBI Gene: 67739
Location & Maps
more
  • Sequence Map
    Chr15:97784355-97792692 bp, + strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      8338 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 15, 53.78 cM, cytoband F2
  • Detailed Genetic Map ± 1 cM
  • Mapping Data
    2 experiments
Homology
more
  • Human Ortholog
    SLC48A1, solute carrier family 48 member 1
  • Vertebrate Orthologs
    10
  • Human Ortholog
    SLC48A1, solute carrier family 48 member 1
    Orthology source: HomoloGene
  • Synonyms
    hHRG-1, HRG1, HRG-1
  • Links
    NCBI Gene ID: 55652
    neXtProt AC: NX_Q6P1K1

  • Chr Location
    12q13.11; chr12:47753842-47782753 (+)  GRCh38.p2

Human Diseases
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  • References
    1 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    1 phenotype from 1 allele in 1 genetic background
    22 phenotype references
  • All Mutations and Alleles
    7
  • Chemically induced (other)
    1
  • Gene trapped
    2
  • Radiation induced
    2
  • Targeted
    2
  • Genomic Mutations
    3 involving Slc48a1
  • Incidental Mutations
An uncharacterized gene trap insertion does not result in an obvious phenotype during the observation period early in life, although abnormalities may still develop at older age.
Gene Ontology
(GO)
Classifications
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  • All GO Annotations
  • GO References
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
receptor
receptor binding
RNA binding
transcription
transferase
transporter
Biological Process

nucleic acid-templated transcription
carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
synapse
vacuole
Click cells to view annotations.
Expression
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  • cDNA Data
Interactions
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Sequences &
Gene Models
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Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000029612 VEGA Gene Model | MGI Sequence Detail 8338 C57BL/6J ±  kb
transcript OTTMUST00000073462 VEGA | MGI Sequence Detail 2536 Not Applicable  
polypeptide OTTMUSP00000038017 VEGA | MGI Sequence Detail 146 Not Applicable  
For the selected sequence
Polymorphisms
less
  • SNPs within 2kb
    37 from dbSNP Build 142
Protein
Information
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  • UniProt
    3 Sequences
  • Protein Ontology
    PR:000015154 heme transporter HRG1
  • InterPro Domains
    IPR026218 Heme transporter HRG
Molecular
Reagents
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  • All nucleic 156
    cDNA 156

    Microarray probesets 4
References
more
  • Summaries
    All 27
    Diseases 1
    Gene Ontology 2
    Phenotypes 22
  • Earliest
    J:65060 Kawai J, et al., Functional annotation of a full-length mouse cDNA collection. Nature. 2001 Feb 8;409(6821):685-90
  • Latest
    J:203507 White C, et al., HRG1 is essential for heme transport from the phagolysosome of macrophages during erythrophagocytosis. Cell Metab. 2013 Feb 5;17(2):261-70

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
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last database update
05/24/2016
MGI 6.04
The Jackson Laboratory