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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
  • Alliance
    gene page
  • Transcription Start Sites
    14 TSS
Location &
Maps
more
  • Sequence Map
    Chr15:97682246-97690573 bp, + strand
    From NCBI annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 15, 53.78 cM, cytoband F2
  • Mapping Data
    2 experiments
Strain
Comparison
more
  • SNPs within 2kb
    247 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_1914989
 protein coding gene Chr15:97676401-97690573 (+)
129S1/SvImJ MGP_129S1SvImJ_G0022279
 protein coding gene Chr15:99457130-99465472 (+)
A/J MGP_AJ_G0022238
 protein coding gene Chr15:95525523-95533847 (+)
AKR/J MGP_AKRJ_G0022213
 protein coding gene Chr15:98405939-98414264 (+)
BALB/cJ MGP_BALBcJ_G0022244
 protein coding gene Chr15:95748692-95757029 (+)
C3H/HeJ MGP_C3HHeJ_G0022014
 protein coding gene Chr15:98485047-98493371 (+)
C57BL/6NJ MGP_C57BL6NJ_G0022689
 protein coding gene Chr15:103130265-103138726 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0020215
 protein coding gene Chr15:91470383-91478751 (+)
CAST/EiJ MGP_CASTEiJ_G0021536
 protein coding gene Chr15:99353703-99362021 (+)
CBA/J MGP_CBAJ_G0021981
 protein coding gene Chr15:106590054-106598379 (+)
DBA/2J MGP_DBA2J_G0022108
 protein coding gene Chr15:94974851-94983175 (+)
FVB/NJ MGP_FVBNJ_G0022087
 protein coding gene Chr15:93963293-93971630 (+)
LP/J MGP_LPJ_G0022179
 protein coding gene Chr15:99565276-99573600 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0022107
 protein coding gene Chr15:110709687-110718011 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0022704
 protein coding gene Chr15:98556144-98564468 (+)
PWK/PhJ MGP_PWKPhJ_G0021277
 protein coding gene Chr15:95072102-95080439 (+)
SPRET/EiJ MGP_SPRETEiJ_G0021111
 protein coding gene Chr15:98327079-98335394 (+)
WSB/EiJ MGP_WSBEiJ_G0021585
 protein coding gene Chr15:99075578-99083902 (+)



Homology
more
  • Human Ortholog
    SLC48A1, solute carrier family 48 member 1
  • Vertebrate Orthologs
    4
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    SLC48A1, solute carrier family 48 member 1
  • Synonyms
    hHRG-1, HRG, HRG-1, HRG1
  • Links
    NCBI Gene ID: 55652
    neXtProt AC: NX_Q6P1K1
    UniProt: Q6P1K1

  • Chr Location
    12q13.11; chr12:47753916-47782751 (+)  GRCh38
Human Diseases
less
  • References
    1 with disease annotations
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    25 phenotypes from 3 alleles in 3 genetic backgrounds
    5 phenotypes from multigenic genotypes
    29 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryo
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
neoplasm
vision/eye

Click cells to view annotations.
Mice homozygous for a null mutation display accumulation of excess heme in a crystalized form, impaired erythroid maturation, and an impaired ability to respond to iron deficiency.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    29
  • GO References
    6
Molecular Function

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

carbohydrate derivative metabolism
cell differentiation
cell population proliferation
cellular component organization
DNA-templated transcription
establishment of localization
homeostatic process
immune system process
lipid metabolic process
programmed cell death
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
membraneless organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
protein-containing complex
synapse
vacuole
Click cells to view annotations.
Expression
less
Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
    706
  • cDNA Data
    157
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 67739 NCBI Gene Model | MGI Sequence Detail 8328 C57BL/6J ±  kb
    transcript NM_026353 RefSeq | MGI Sequence Detail 2526 C57BL/6  
    polypeptide Q9D8M3 UniProt | EBI | MGI Sequence Detail 146 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 157
      cDNA 157

      Microarray probesets 4
    References
    more
    • Summaries
      All 53
      Diseases 1
      Gene Ontology 6
      Phenotypes 29
    • Earliest
      J:7688 Lane PW, et al., Association of megacolon with a new dominant spotting gene (Dom) in the mouse. J Hered. 1984 Nov-Dec;75(6):435-9
    • Latest
      J:345621 Adams DJ, et al., Genetic determinants of micronucleus formation in vivo. Nature. 2024 Mar;627(8002):130-136
    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
    Citing These Resources
    Funding Information
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    Send questions and comments to User Support.     		last database update
    11/12/2024
    MGI 6.24     		The Jackson Laboratory