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Slc46a1 Gene Detail
Summary
  • Symbol
    Slc46a1
  • Name
    solute carrier family 46, member 1
  • Synonyms
    1110002C08Rik, D11Ertd18e, HCP1, heme carrier protein 1, PCFT
  • Feature Type
    protein coding gene
  • IDs
    MGI:1098733
    NCBI Gene: 52466
  • Alliance
    gene page
  • Transcription Start Sites
    3 TSS
Location &
Maps
more
  • Sequence Map
    Chr11:78356527-78362771 bp, + strand
    From NCBI annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 11, 46.74 cM
  • Mapping Data
    5 experiments
Strain
Comparison
more
  • SNPs within 2kb
    243 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_1098733
 protein coding gene Chr11:78356523-78362885 (+)
129S1/SvImJ MGP_129S1SvImJ_G0018780
 protein coding gene Chr11:79478991-79485352 (+)
A/J MGP_AJ_G0018746
 protein coding gene Chr11:76436409-76442771 (+)
AKR/J MGP_AKRJ_G0018716
 protein coding gene Chr11:78738801-78745163 (+)
BALB/cJ MGP_BALBcJ_G0018720
 protein coding gene Chr11:76840070-76846432 (+)
C3H/HeJ MGP_C3HHeJ_G0018533
 protein coding gene Chr11:78786674-78793037 (+)
C57BL/6NJ MGP_C57BL6NJ_G0019171
 protein coding gene Chr11:81950028-81956390 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0016806
 protein coding gene Chr11:73408270-73413575 (+)
CAST/EiJ MGP_CASTEiJ_G0018087
 protein coding gene Chr11:79242928-79249302 (+)
CBA/J MGP_CBAJ_G0018504
 protein coding gene Chr11:85557237-85563600 (+)
DBA/2J MGP_DBA2J_G0018612
 protein coding gene Chr11:76009620-76015982 (+)
FVB/NJ MGP_FVBNJ_G0018602
 protein coding gene Chr11:75598534-75604896 (+)
LP/J MGP_LPJ_G0018683
 protein coding gene Chr11:79997351-80003712 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0018628
 protein coding gene Chr11:85924203-85930565 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0019211
 protein coding gene Chr11:78987742-78994104 (+)
PWK/PhJ MGP_PWKPhJ_G0017858
 protein coding gene Chr11:76807927-76814300 (+)
SPRET/EiJ MGP_SPRETEiJ_G0017649
 protein coding gene Chr11:78598852-78605246 (+)
WSB/EiJ MGP_WSBEiJ_G0018140
 protein coding gene Chr11:78817276-78823636 (+)



Homology
more
  • Human Ortholog
    SLC46A1, solute carrier family 46 member 1
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    SLC46A1, solute carrier family 46 member 1
  • Synonyms
    G21, HCP1, hPCFT, HsPCFT, PCFT
  • Links
    NCBI Gene ID: 113235
    neXtProt AC: NX_Q96NT5
    UniProt: Q96NT5

  • Chr Location
    17q11.2; chr17:28394642-28407197 (-)  GRCh38
Human Diseases
more
  • Diseases
    1 with human SLC46A1 associations

Human Disease Mouse Models
      
IDs
Click on a disease name to see all genes associated with that disease.

Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    9 phenotypes from 2 alleles in 2 genetic backgrounds
    20 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 knock-out allele exhibit increased circulating and liver levels of N-homocysteine and total homocysteine.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    31
  • GO References
    11
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
    722
  • Tissues
    15
  • cDNA Data
    53
  • Literature Summary
    4
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 52466 NCBI Gene Model | MGI Sequence Detail 6245 C57BL/6J ±  kb
    transcript NM_026740 RefSeq | MGI Sequence Detail 1990 ZRU/MplStud  
    polypeptide Q6PEM8 UniProt | EBI | MGI Sequence Detail 459 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 56
      cDNA 53
      Primer pair 3

      Microarray probesets 4
    Other
    Accession IDs
    less
    MGI:1915739
    References
    more
    • Summaries
      All 62
      Developmental Gene Expression 4
      Gene Ontology 11
      Phenotypes 20
    • Earliest
      J:137335 Roderick TH, Chromosomal inversions in studies of mammalian mutagenesis. Genetics. 1979 May;92(1 Pt 1 Suppl):s121-6
    • 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)
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    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