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Aliases for PROM1 Gene

Aliases for PROM1 Gene

  • Prominin 1 2 3
  • PROML1 3 4 6
  • Prominin-Like Protein 1 3 4
  • Antigen AC133 3 4
  • CORD12 3 6
  • MCDR2 3 6
  • AC133 3 6
  • CD133 3 6
  • STGD4 3 6
  • RP41 3 6
  • Stargardt Disease 4 (Autosomal Dominant) 2
  • Hematopoietic Stem Cell Antigen 3
  • Macular Dystrophy, Retinal 2 2
  • Prominin (Mouse)-Like 1 2
  • CD133 Antigen 4
  • Prominin-1 3
  • HProminin 3
  • MSTP061 3

External Ids for PROM1 Gene

Previous Symbols for PROM1 Gene

  • PROML1
  • MCDR2
  • STGD4

Summaries for PROM1 Gene

Entrez Gene Summary for PROM1 Gene

  • This gene encodes a pentaspan transmembrane glycoprotein. The protein localizes to membrane protrusions and is often expressed on adult stem cells, where it is thought to function in maintaining stem cell properties by suppressing differentiation. Mutations in this gene have been shown to result in retinitis pigmentosa and Stargardt disease. Expression of this gene is also associated with several types of cancer. This gene is expressed from at least five alternative promoters that are expressed in a tissue-dependent manner. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2009]

GeneCards Summary for PROM1 Gene

PROM1 (Prominin 1) is a Protein Coding gene. Diseases associated with PROM1 include stargardt disease 4 and cone-rod dystrophy 12. Among its related pathways are Transcriptional misregulation in cancer. GO annotations related to this gene include cadherin binding and actinin binding. An important paralog of this gene is PROM2.

UniProtKB/Swiss-Prot for PROM1 Gene

  • May play a role in cell differentiation, proliferation and apoptosis (PubMed:24556617). Binds cholesterol in cholesterol-containing plasma membrane microdomains and may play a role in the organization of the apical plasma membrane in epithelial cells. During early retinal development acts as a key regulator of disk morphogenesis. Involved in regulation of MAPK and Akt signaling pathways. In neuroblastoma cells suppresses cell differentiation such as neurite outgrowth in a RET-dependent manner (PubMed:20818439).

Gene Wiki entry for PROM1 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PROM1 Gene

Genomics for PROM1 Gene

Genomic Location for PROM1 Gene

Start:
15,963,076 bp from pter
End:
16,084,378 bp from pter
Size:
121,303 bases
Orientation:
Minus strand

Genomic View for PROM1 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for PROM1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PROM1 Gene

Regulatory Elements for PROM1 Gene

Proteins for PROM1 Gene

  • Protein details for PROM1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O43490-PROM1_HUMAN
    Recommended name:
    Prominin-1
    Protein Accession:
    O43490
    Secondary Accessions:
    • Q6SV49
    • Q6SV50
    • Q6SV51
    • Q6SV52
    • Q6SV53
    • Q96EN6

    Protein attributes for PROM1 Gene

    Size:
    865 amino acids
    Molecular mass:
    97202 Da
    Quaternary structure:
    • Interacts with CDHR1 and with actin filaments. Interacts with NAT8 and NAT8B.
    Miscellaneous:
    • Is used as marker for hematopoietic stem and progenitor cells (HSPC) for somatic stem cell isolation

    Alternative splice isoforms for PROM1 Gene

neXtProt entry for PROM1 Gene

Proteomics data for PROM1 Gene at MOPED

Post-translational modifications for PROM1 Gene

  • Acetylation at Lys-225, Lys-257 and Lys-264 by NAT8 and NAT8B may control PROM1 protein expression and its function in cell apoptosis.
  • Isoform 1 and isoform 2 are glycosylated.
  • Modification sites at PhosphoSitePlus
  • Glycosylation at Asn220, Asn274, Asn395, Asn414, Asn548, Asn580, Asn729, and Asn730

No data available for DME Specific Peptides for PROM1 Gene

Domains for PROM1 Gene

Gene Families for PROM1 Gene

HGNC:
  • CD :CD molecules

Protein Domains for PROM1 Gene

InterPro:
Blocks:
ProtoNet:

UniProtKB/Swiss-Prot:

PROM1_HUMAN
Family:
  • Belongs to the prominin family.:
    • O43490
genes like me logo Genes that share domains with PROM1: view

Function for PROM1 Gene

Molecular function for PROM1 Gene

UniProtKB/Swiss-Prot Function: May play a role in cell differentiation, proliferation and apoptosis (PubMed:24556617). Binds cholesterol in cholesterol-containing plasma membrane microdomains and may play a role in the organization of the apical plasma membrane in epithelial cells. During early retinal development acts as a key regulator of disk morphogenesis. Involved in regulation of MAPK and Akt signaling pathways. In neuroblastoma cells suppresses cell differentiation such as neurite outgrowth in a RET-dependent manner (PubMed:20818439).

Gene Ontology (GO) - Molecular Function for PROM1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 18654668
GO:0042805 actinin binding IDA 18654668
GO:0045296 cadherin binding IPI 18654668
genes like me logo Genes that share ontologies with PROM1: view
genes like me logo Genes that share phenotypes with PROM1: view

Animal Models for PROM1 Gene

MGI Knock Outs for PROM1:

miRNA for PROM1 Gene

miRTarBase miRNAs that target PROM1

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targeting and HOMER Transcription for PROM1 Gene

Localization for PROM1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for PROM1 Gene

Apical cell membrane; Multi-pass membrane protein. Cell projection, microvillus membrane; Multi-pass membrane protein. Cell projection, cilium, photoreceptor outer segment. Endoplasmic reticulum. Endoplasmic reticulum-Golgi intermediate compartment. Note=Found in extracellular membrane particles in various body fluids such as cerebrospinal fluid, saliva, seminal fluid and urine.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for PROM1 Gene COMPARTMENTS Subcellular localization image for PROM1 gene
Compartment Confidence
plasma membrane 5
cytoskeleton 3
extracellular 2
nucleus 2
cytosol 1
endoplasmic reticulum 1

Gene Ontology (GO) - Cellular Components for PROM1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001750 photoreceptor outer segment ISS --
GO:0005615 extracellular space IDA 16502470
GO:0005783 endoplasmic reticulum IDA 24556617
GO:0005793 endoplasmic reticulum-Golgi intermediate compartment IDA 24556617
GO:0005886 plasma membrane IDA 12042327
genes like me logo Genes that share ontologies with PROM1: view

Pathways for PROM1 Gene

genes like me logo Genes that share pathways with PROM1: view

Pathways by source for PROM1 Gene

1 KEGG pathway for PROM1 Gene

Interacting Proteins for PROM1 Gene

Gene Ontology (GO) - Biological Process for PROM1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0010842 retina layer formation ISS --
GO:0045494 photoreceptor cell maintenance IMP 18654668
GO:0060042 retina morphogenesis in camera-type eye IMP 18654668
GO:0060219 camera-type eye photoreceptor cell differentiation ISS --
GO:0072112 glomerular visceral epithelial cell differentiation IMP 19092120
genes like me logo Genes that share ontologies with PROM1: view

Compounds for PROM1 Gene

(1) Novoseek inferred chemical compound relationships for PROM1 Gene

Compound -log(P) Hits PubMed IDs
lipid 0 2
genes like me logo Genes that share compounds with PROM1: view

Transcripts for PROM1 Gene

Unigene Clusters for PROM1 Gene

Prominin 1:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for PROM1 Gene

ExUns: 1a · 1b · 1c · 1d ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7a · 7b ^ 8 ^ 9a · 9b ^ 10a · 10b ^ 11a · 11b ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^ 19 ^
SP1: - -
SP2: - - -
SP3: -
SP4: - -
SP5: - -
SP6:
SP7: - - - -

ExUns: 20 ^ 21 ^ 22 ^ 23 ^ 24 ^ 25 ^ 26 ^ 27 ^ 28 ^ 29
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:

Relevant External Links for PROM1 Gene

GeneLoc Exon Structure for
PROM1
ECgene alternative splicing isoforms for
PROM1

Expression for PROM1 Gene

mRNA expression in normal human tissues for PROM1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for PROM1 Gene

This gene is overexpressed in Minor Salivary Gland (17.4) and Colon - Transverse (6.3).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for PROM1 Gene

SOURCE GeneReport for Unigene cluster for PROM1 Gene Hs.614734

mRNA Expression by UniProt/SwissProt for PROM1 Gene

O43490-PROM1_HUMAN
Tissue specificity: Isoform 1 is selectively expressed on CD34 hematopoietic stem and progenitor cells in adult and fetal bone marrow, fetal liver, cord blood and adult peripheral blood. Isoform 1 is not detected on other blood cells. Isoform 1 is also expressed in a number of non-lymphoid tissues including retina, pancreas, placenta, kidney, liver, lung, brain and heart. Found in saliva within small membrane particles. Isoform 2 is predominantly expressed in fetal liver, skeletal muscle, kidney, and heart as well as adult pancreas, kidney, liver, lung, and placenta. Isoform 2 is highly expressed in fetal liver, low in bone marrow, and barely detectable in peripheral blood. Isoform 2 is expressed on hematopoietic stem cells and in epidermal basal cells (at protein level). Expressed in adult retina by rod and cone photoreceptor cells (at protein level).
genes like me logo Genes that share expressions with PROM1: view

Orthologs for PROM1 Gene

This gene was present in the common ancestor of animals.

Orthologs for PROM1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia PROM1 36
  • 99.34 (n)
  • 99.19 (a)
PROM1 37
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia PROM1 36
  • 69.92 (n)
  • 55.42 (a)
PROM1 37
  • 53 (a)
OneToOne
dog
(Canis familiaris)
Mammalia PROM1 36
  • 76.48 (n)
  • 66.1 (a)
PROM1 37
  • 66 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Prom1 36
  • 71.23 (n)
  • 60.8 (a)
Prom1 16
Prom1 37
  • 61 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia PROM1 37
  • 53 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia PROM1 37
  • 56 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Prom1 36
  • 71.04 (n)
  • 61.58 (a)
chicken
(Gallus gallus)
Aves PROM1 36
  • 63.5 (n)
  • 53.03 (a)
PROM1 37
  • 51 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia PROM1 37
  • 51 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia prom1 36
  • 60.86 (n)
  • 51.31 (a)
zebrafish
(Danio rerio)
Actinopterygii -- 36
prom1a 36
  • 53.48 (n)
  • 44.91 (a)
prom1a 37
  • 42 (a)
OneToMany
prom1b 37
  • 40 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta prom 37
  • 12 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea F08B12.1 36
  • 40.37 (n)
  • 23.78 (a)
prmn-1 37
  • 16 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 37
  • 27 (a)
OneToMany
Species with no ortholog for PROM1:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • 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)
  • 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)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • 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)

Evolution for PROM1 Gene

ENSEMBL:
Gene Tree for PROM1 (if available)
TreeFam:
Gene Tree for PROM1 (if available)

Paralogs for PROM1 Gene

Paralogs for PROM1 Gene

Selected SIMAP similar genes for PROM1 Gene using alignment to 7 proteins:

genes like me logo Genes that share paralogs with PROM1: view

Variants for PROM1 Gene

Sequence variations from dbSNP and Humsavar for PROM1 Gene

SNP ID Clin Chr 04 pos Sequence Context AA Info Type MAF
rs3130 -- 15,968,315(+) GAATT(C/T)CATTA utr-variant-3-prime
rs717176 -- 15,993,691(+) ATACT(C/T)AGCAA intron-variant
rs740579 -- 15,973,152(+) TGCGG(A/C)CCCCT intron-variant
rs884227 -- 16,071,469(+) TGAAG(C/T)GTTAA intron-variant
rs884228 -- 16,071,514(+) TGGGA(A/G)AGGTA intron-variant

Structural Variations from Database of Genomic Variants (DGV) for PROM1 Gene

Variant ID Type Subtype PubMed ID
nsv527861 CNV Gain 19592680
nsv461281 CNV Loss 19166990
nsv527202 CNV Loss 19592680

Relevant External Links for PROM1 Gene

HapMap Linkage Disequilibrium report
PROM1
Human Gene Mutation Database (HGMD)
PROM1
Locus Specific Mutation Databases (LSDB)
PROM1

Disorders for PROM1 Gene

(4) OMIM Diseases for PROM1 Gene (604365)

UniProtKB/Swiss-Prot

PROM1_HUMAN
  • Retinitis pigmentosa 41 (RP41) [MIM:612095]: A retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well. {ECO:0000269 PubMed:10587575, ECO:0000269 PubMed:17605048}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Cone-rod dystrophy 12 (CORD12) [MIM:612657]: An inherited retinal dystrophy characterized by retinal pigment deposits visible on fundus examination, predominantly in the macular region, and initial loss of cone photoreceptors followed by rod degeneration. This leads to decreased visual acuity and sensitivity in the central visual field, followed by loss of peripheral vision. Severe loss of vision occurs earlier than in retinitis pigmentosa. {ECO:0000269 PubMed:18654668}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Stargardt disease 4 (STGD4) [MIM:603786]: A common hereditary macular degeneration. It is characterized by decreased central vision, atrophy of the macula and underlying retinal pigment epithelium, and frequent presence of prominent flecks in the posterior pole of the retina. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Retinal macular dystrophy 2 (MCDR2) [MIM:608051]: A bulls-eye macular dystrophy characterized by bilateral annular atrophy of retinal pigment epithelium at the macula. Note=The disease is caused by mutations affecting the gene represented in this entry.

(8) Novoseek inferred disease relationships for PROM1 Gene

Disease -log(P) Hits PubMed IDs
cancer 38.6 27
acute leukemia 38.2 10
retinal degeneration 35.4 4
tumors 30.9 21
lymphoblastic leukemia acute 30.1 2

Relevant External Links for PROM1

Genetic Association Database (GAD)
PROM1
Human Genome Epidemiology (HuGE) Navigator
PROM1
genes like me logo Genes that share disorders with PROM1: view

Publications for PROM1 Gene

  1. A frameshift mutation in prominin (mouse)-like 1 causes human retinal degeneration. (PMID: 10587575) Maw M.A. … Denton M.J. (Hum. Mol. Genet. 2000) 3 4 23
  2. AC133, a novel marker for human hematopoietic stem and progenitor cells. (PMID: 9389720) Yin A.H. … Buck D.W. (Blood 1997) 3 4 23
  3. A novel five-transmembrane hematopoietic stem cell antigen: isolation, characterization, and molecular cloning. (PMID: 9389721) Miraglia S. … Buck D.W. (Blood 1997) 3 4 23
  4. Nomenclature of prominin-1 (CD133) splice variants - an update. (PMID: 17498271) Fargeas C.A. … Corbeil D. (Tissue Antigens 2007) 3 4 23
  5. Mutant prominin 1 found in patients with macular degeneration disrupts photoreceptor disk morphogenesis in mice. (PMID: 18654668) Yang Z. … Zhang K. (J. Clin. Invest. 2008) 3 4 23

Products for PROM1 Gene

Sources for PROM1 Gene

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