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Prom1 Gene Detail
Summary
  • Symbol
    Prom1
  • Name
    prominin 1
  • Synonyms
    4932416E19Rik, AC133, CD133, Prom, Prom-1
  • Feature Type
    protein coding gene
  • IDs
    MGI:1100886
    NCBI Gene: 19126
  • Gene Overview
    MyGene.info: PROM1
Location & Maps
more
  • Sequence Map
    Chr5:43993620-44102032 bp, - strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      108413 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 5, 23.97 cM
  • Mapping Data
    4 experiments
  • Sequence Tag
Homology
more
  • Human Ortholog
    PROM1, prominin 1
  • Vertebrate Orthologs
    10
  • Human Ortholog
    PROM1, prominin 1
    Orthology source: HomoloGene
  • Synonyms
    AC133, CD133, CORD12, MCDR2, MSTP061, PROML1, RP41, STGD4
  • Links
    NCBI Gene ID: 8842
    neXtProt AC: NX_O43490

  • Chr Location
    4p15.32; chr4:15968226-16119884 (-)  GRCh38.p2

  • HomoloGene
    Vertebrate Homology Class 4390
    1 human;1 mouse;1 rat;1 chimpanzee;1 rhesus macaque;1 cattle;1 dog;1 chicken;1 western clawed frog;1 zebrafish
  • HCOP
    human homology predictions: PROM1
  • Protein SuperFamily
  • Gene Tree
Human Diseases
more
  • Diseases
    1 with Prom1 mouse models; 4 with human PROM1 associations

Human Disease Mouse Models
       Retinitis Pigmentosa 41; RP41   OMIM: 612095 View 2 models
       Cone-Rod Dystrophy 12; CORD12   OMIM: 612657
Macular Dystrophy, Retinal, 2; MCDR2   OMIM: 608051
Stargardt Disease 4; STGD4   OMIM: 603786
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    2 with disease annotations
  • References
    3 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    23 phenotypes from 4 alleles in 5 genetic backgrounds
    2 phenotypes from multigenic genotypes
    32 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.
  • All Mutations and Alleles
    12
  • Chemically induced (ENU)
    1
  • Chemically induced (other)
    2
  • Radiation induced
    2
  • Spontaneous
    2
  • Targeted
    5
  • Genomic Mutations
    6 involving Prom1
  • Incidental Mutations
Mice homozygous for a knock-out allele exhibit abnormal retina morphology, vasculature, and electrophysiology.
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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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
  • Tissues
  • cDNA Data
  • Literature Summary
Interactions
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Sequences &
Gene Models
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Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000053805 VEGA Gene Model | MGI Sequence Detail 108413 C57BL/6J ±  kb
transcript OTTMUST00000133865 VEGA | MGI Sequence Detail 3966 Not Applicable  
polypeptide OTTMUSP00000071087 VEGA | MGI Sequence Detail 867 Not Applicable  
For the selected sequence
Polymorphisms
less
  • SNPs within 2kb
    836 from dbSNP Build 142
Protein
Information
less
Molecular
Reagents
less
  • All nucleic 14
    cDNA 13
    Other 1

    Microarray probesets 4
Other
Accession IDs
less
MGI:2444952
References
more
  • Summaries
    All 82
    Developmental Gene Expression 47
    Diseases 3
    Gene Ontology 12
    Phenotypes 32
  • Earliest
    J:44182 Weigmann A, et al., Prominin, a novel microvilli-specific polytopic membrane protein of the apical surface of epithelial cells, is targeted to plasmalemmal protrusions of non-epithelial cells. Proc Natl Acad Sci U S A. 1997 Nov 11;94(23):12425-30
  • Latest
    J:229930 Nechiporuk T, et al., The REST remodeling complex protects genomic integrity during embryonic neurogenesis. Elife. 2016;5

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
07/19/2016
MGI 6.04
The Jackson Laboratory