Aliases for PROM1 Gene
Aliases for PROM1 Gene
External Ids for PROM1 Gene
- HGNC: 9454
- Entrez Gene: 8842
- Ensembl: ENSG00000007062
- OMIM: 604365
- UniProtKB: O43490
Previous HGNC Symbols for PROM1 Gene
- PROML1
- MCDR2
- STGD4
Previous GeneCards Identifiers for PROM1 Gene
- GC04M015912
- GC04M015658
- GC04M015720
- GC04M015646
- GC04M015578
- GC04M015320
Summaries 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 Macular Dystrophy, Retinal, 2 and Stargardt Disease 4. Among its related pathways are Extracellular vesicle-mediated signaling in recipient cells and Embryonic and Induced Pluripotent Stem Cell Differentiation Pathways and Lineage-specific Markers. 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).
No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PROM1 Gene
Genomics for PROM1 Gene
Regulatory Elements for PROM1 Gene
Enhancers for PROM1 Gene
| GeneHancer Identifier | Enhancer Score | Enhancer Sources | Gene-Enhancer Score | TSS distance (kb) | Number of Genes Away | Size (kb) | Transcription Factor Binding Sites within enhancer | Gene Targets for Enhancer |
|---|---|---|---|---|---|---|---|---|
| GH04G016032 | 1.4 | Ensembl ENCODE dbSUPER | 38.8 | +86.5 | 86511 | 3.0 | TBP FOXA2 ZFP64 ZSCAN9 YY1 KAT2B RARA CREM MIXL1 USF2 | PROM1 GC04M016016 |
| GH04G016028 | 1.1 | Ensembl ENCODE dbSUPER | 23.4 | +90.4 | 90399 | 1.0 | PKNOX1 JUND POLR2A SMARCA4 CEBPG PRDM1 TEAD3 | PROM1 GC04M016016 |
| GH04G016140 | 1.2 | Ensembl ENCODE | 19.5 | -21.9 | -21921 | 3.6 | ELF3 TBP FOXA2 NFIB ARID4B RARA GATA4 GATA2 FOS CREM | PROM1 TAPT1 ENSG00000249234 GC04P016144 GC04P016134 |
| GH04G016222 | 1.6 | FANTOM5 ENCODE dbSUPER | 11.9 | -106.0 | -106038 | 6.4 | PKNOX1 FOXA2 ATF1 CREB3L1 ARID4B SIN3A DMAP1 ZNF48 YY1 GLIS2 | TAPT1 PROM1 TAPT1-AS1 FGFBP2 ENSG00000249234 |
| GH04G015904 | 1.7 | FANTOM5 Ensembl ENCODE dbSUPER | 11.2 | +213.5 | 213452 | 4.0 | BCOR GTF2F1 CTCF KLF1 FOXA2 JUN SREBF2 MAX ZMYM3 SIN3A | FGFBP1 FGFBP2 PROM1 CD38 FBXL5 BST1 HPRT1P1 |
- Elite enhancer and/or Elite enhancer-gene association
Download GeneHancer data dump
Enhancers around PROM1 on UCSC Golden Path with GeneCards custom track
Regulatory Element Products
Genomic Location for PROM1 Gene
- Chromosome:
- 4
- Start:
- 15,963,076 bp from pter
- End:
- 16,119,884 bp from pter
- Size:
- 156,809 bases
- Orientation:
- Minus strand
Genomic View for PROM1 Gene
Genes around PROM1 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 4p15.32 by Ensembl
- 4p15.32 by Entrez Gene
- 4p15.32 by HGNC
PROM1 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene Density
RefSeq DNA sequence 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
- 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.
Protein Expression for PROM1 Gene
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.
- Glycosylation at Asn220, Asn274, isoforms=2, 3, 4, 5, 6, 7395, isoforms=2, 3, 4, 5, 6, 7414, isoforms=2, 3, 4, 5, 6, 7548, isoforms=2, 3, 4, 5, 6, 7580, isoforms=2, 3, 4, 5, 6, 7729, and Asn730
- Modification sites at PhosphoSitePlus
Other Protein References for PROM1 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
-
- NP_001139319.1
- NP_001139320.1
- NP_001139321.1
- NP_001139322.1
- NP_001139323.1
- NP_001139324.1
- NP_006008.1
- XP_005248252.1
- XP_005248253.1
- XP_006714037.1
- XP_011512192.1
- XP_011512194.1
- XP_011512195.1
- XP_011512196.1
- XP_011512197.1
- XP_011512198.1
- XP_011512199.1
- XP_011512200.2
- XP_011512201.2
- XP_011512202.1
- XP_011512204.1
- XP_011512205.1
- XP_016864288.1
- XP_016864289.1
- XP_016864290.1
- XP_016864291.1
- XP_016864292.1
- XP_016864293.1
- XP_016864294.1
Antibody Products
- EMD Millipore top PROM1 Antibody
- EMD Millipore Complete listing of Mono and Polychlonal Antibodies for PROM1
- R&D Systems Antibodies for PROM1 (CD133)
- Cell Signaling Technology (CST) Antibodies for PROM1 (CD133)
- Novus Biologicals Antibodies for PROM1
-
Cloud-Clone Corp. Antibodies for PROM1
- Invitrogen Antibodies for PROM1
- Invitrogen Antibodies for PROM1
- Search GeneTex for Antibodies for PROM1
-
Custom Antibody ServicesProSci Antibodies for PROM1
Protein Products
-
OriGene Purified Proteins for PROM1
- Search Origene for MassSpec and Protein Over-expression Lysates for PROM1
- Origene Custom Protein Services for PROM1
- Sino Biological Recombinant Proteins for PROM1
- Sino Biological Cell Lysates for PROM1
-
Cloud-Clone Corp. Proteins for PROM1
- Search GeneTex for Proteins for PROM1
Assay Products
-
Cloud-Clone Corp Assay Kits for PROM1
No data available for DME Specific Peptides for PROM1 Gene
Domains & Families for PROM1 Gene
Gene Families for PROM1 Gene
- HGNC:
Suggested Antigen Peptide Sequences for PROM1 Gene
- GenScript: Design optimal peptide antigens:
Graphical View of Domain Structure for InterPro Entry
O43490- Family:
-
- Belongs to the prominin family.
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).
| 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 |
Phenotypes for PROM1 Gene
- MGI mutant phenotypes for PROM1:
- inferred from 5 alleles
- GenomeRNAi human phenotypes for PROM1:
Animal Models for PROM1 Gene
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
- Cyagen custom Knockout/knockin (KOKI) mouse models for PROM1
-
- Search ViGene Biosciences for PROM1
CRISPR Products
-
OriGene CRISPR knockouts for PROM1
- GenScript: Design CRISPR guide RNA sequences for PROM1
miRNA for PROM1 Gene
- miRTarBase miRNAs that target PROM1
-
- hsa-mir-142-3p (MIRT021645)
- hsa-mir-4452 (MIRT622600)
- hsa-mir-183-3p (MIRT622601)
- hsa-mir-4753-3p (MIRT622602)
- hsa-mir-6873-3p (MIRT622603)
- hsa-mir-130b-5p (MIRT622604)
- hsa-mir-6817-3p (MIRT622605)
- hsa-mir-7110-3p (MIRT622606)
- hsa-mir-3156-5p (MIRT622607)
- hsa-mir-514b-5p (MIRT643396)
- hsa-mir-513c-5p (MIRT643397)
miRNA Products
- Search ViGene Biosciences for PROM1
Inhibitory RNA Products
- Origene RNAi, siRNA, and shRNA products in human, mouse, rat for PROM1
- Browse OriGene Inhibitory RNA Products For PROM1
Clone Products
-
OriGene ORF clones in human for PROM1
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
-
GenScript: Next-day shipping cDNA ORF clone for PROM1 in any vector
- NM_001145852
- NM_001145851
- NM_001145850
- NM_001145849
- NM_001145848
- NM_006017
- NM_001145847
- XM_011513904
- XM_006713974
- XM_011513903
- XM_005248196
- XM_005248195
- XM_011513902
- XM_011513901
- XM_011513900
- XM_011513899
- XM_011513898
- XM_011513897
- XM_011513896
- XM_011513895
- XM_011513894
- XM_011513893
- XM_011513892
- XM_011513891
- XM_011513890
- Sino Biological Human cDNA Clone for PROM1
- Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat
- VectorBuilder custom plasmid, inducible vectors for PROM1
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for PROM1
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
Cell Line Products
-
Horizon Cell Lines for PROM1
Flow Cytometry Products
- eBioscience FlowRNA Probe Sets (VA1-10400 VA6-13566) for PROM1
No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets 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.
| Compartment | Confidence |
|---|---|
| plasma membrane | 5 |
| extracellular | 5 |
| endoplasmic reticulum | 5 |
| cytoskeleton | 3 |
| nucleus | 2 |
| mitochondrion | 1 |
| cytosol | 1 |
| endosome | 1 |
| 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,IEA | 24556617 |
| GO:0005793 | endoplasmic reticulum-Golgi intermediate compartment | IDA,IEA | 24556617 |
| GO:0005886 | plasma membrane | IEA,IDA | 24556617 |
Pathways & Interactions for PROM1 Gene
Pathways by source for PROM1 Gene
1 Cell Signaling Technology pathway for PROM1 Gene
1 BioSystems pathway for PROM1 Gene
1 KEGG pathway for PROM1 Gene
Interacting Proteins for PROM1 Gene
Selected Interacting proteins:
ENSP00000415481
O43490-PROM1_HUMAN
for PROM1 Gene via
STRING
UniProtKB
IID
| 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,IMP | -- |
| GO:0072112 | glomerular visceral epithelial cell differentiation | IMP | 19092120 |
Transcripts for PROM1 Gene
mRNA/cDNA for PROM1 Gene
- (29) REFSEQ mRNAs :
- (18) Additional mRNA sequences :
- (104) Selected AceView cDNA sequences:
- (20) Ensembl transcripts including schematic representations, and UCSC links where relevant :
Unigene Clusters for PROM1 Gene
- Prominin 1:
- Representative Sequences:
CRISPR Products
-
OriGene CRISPR knockouts for PROM1
- GenScript: Design CRISPR guide RNA sequences for PROM1
miRNA Products
- Search ViGene Biosciences for PROM1
Inhibitory RNA Products
- Origene RNAi, siRNA, and shRNA products in human, mouse, rat for PROM1
- Browse OriGene Inhibitory RNA Products For PROM1
Clone Products
-
OriGene ORF clones in human for PROM1
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
-
GenScript: Next-day shipping cDNA ORF clone for PROM1 in any vector
- NM_001145852
- NM_001145851
- NM_001145850
- NM_001145849
- NM_001145848
- NM_006017
- NM_001145847
- XM_011513904
- XM_006713974
- XM_011513903
- XM_005248196
- XM_005248195
- XM_011513902
- XM_011513901
- XM_011513900
- XM_011513899
- XM_011513898
- XM_011513897
- XM_011513896
- XM_011513895
- XM_011513894
- XM_011513893
- XM_011513892
- XM_011513891
- XM_011513890
- Sino Biological Human cDNA Clone for PROM1
- Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat
- VectorBuilder custom plasmid, inducible vectors for PROM1
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for PROM1
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
Flow Cytometry Products
- eBioscience FlowRNA Probe Sets (VA1-10400 VA6-13566) for PROM1
| 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: |
Expression for PROM1 Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
-
Blood (Hematopoietic System)
- Megakaryocyte-Erythroid Precursor Cells Hematopoietic Bone Marrow
- Hematopoietic Stem Cells Hematopoietic Bone Marrow
- Bone marrow-derived mononuclear cells
- Bone marrow-derived mononuclear cells
- Bone Marrow Aspirate Concentrated Nucleated Cells (BMAC)
- Inner Cell Mass (Early Embryonic Tissues)
- Endothelium (Cardiovascular System)
- Bone (Muscoskeletal System)
-
Brain (Nervous System)
- Choroid Plexus Progenitor Cells Choroid Plexus
- Adult Endothelial Cells Blood Brain Barrier
- Cerebellum
- Human neural stem cells (HuCNS-SC)
- Mesenchymal Stem Cells
- Kidney (Urinary System)
-
Neurons
- AII Amacrine Cells Inner Nuclear Layer
- Neural stem/progenitor cells (family)
-
Hair (Integumentary System)
- Zigzag Dermal Papilla Cells Dermal Papilla
- Guard Dermal Papilla Cells Dermal Papilla
-
Dermis (Integumentary System)
- Zigzag Dermal Papilla Cells Dermal Papilla
- Guard Dermal Papilla Cells Dermal Papilla
- Epithelial Cells (Uncategorized)
- NULL (Nervous System)
- Placenta (Extraembryonic Tissues)
- Umbilical Cord (Extraembryonic Tissues)
- Neural Crest (Gastrulation Derivatives)
-
Eye (Sensory Organs)
- AII Amacrine Cells Inner Nuclear Layer
- Intestine (Gastrointestinal Tract)
- Ovary (Reproductive System)
- Pancreas (Endocrine System)
- Liver (Hepatobiliary System)
mRNA differential expression in normal tissues according to GTEx for PROM1 Gene
This gene is overexpressed in Minor Salivary Gland (x17.4) and Colon - Transverse (x6.3).
This gene is overexpressed in Lavage (25.6), Retina (16.7), and Urine (12.1).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for PROM1 Gene
NURSA nuclear receptor signaling pathways regulating expression of PROM1 Gene:
PROM1SOURCE GeneReport for Unigene cluster for PROM1 Gene:
Hs.614734mRNA 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).
Evidence on tissue expression from TISSUES for PROM1 Gene
- Intestine(4.7)
- Nervous system(4)
- Bone marrow(2.9)
- Heart(2.8)
- Blood(2.7)
- Liver(2.5)
- Muscle(2.4)
- Kidney(2.2)
- Lung(2.1)
- Eye(2)
- Pancreas(2)
Phenotype-based relationships between genes and organs from Gene ORGANizer for PROM1 Gene
Germ Layers:
- ectoderm
- endoderm
- mesoderm
Systems:
- cardiovascular
- endocrine
- immune
- integumentary
- nervous
- reproductive
- respiratory
- skeletal muscle
- skeleton
Organs:
Head and neck:
- brain
- cerebellum
- cranial nerve
- ear
- eye
- eyelid
- face
- head
- lacrimal apparatus
- middle ear
- nose
- outer ear
- pituitary gland
- skull
Thorax:
- breast
Pelvis:
- ovary
- penis
- prostate
- testicle
- uterus
- vagina
- vulva
General:
- blood
- blood vessel
- hair
- peripheral nervous system
- red blood cell
- skin
Primer Products
-
OriGene qPCR primer pairs for PROM1
No data available for Protein tissue co-expression partners for PROM1 Gene
Orthologs for PROM1 Gene
This gene was present in the common ancestor of animals.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | PROM1 34 35 |
|
||
| dog (Canis familiaris) |
Mammalia | PROM1 34 35 |
|
||
| mouse (Mus musculus) |
Mammalia | Prom1 34 16 35 |
|
||
| rat (Rattus norvegicus) |
Mammalia | Prom1 34 |
|
||
| cow (Bos Taurus) |
Mammalia | PROM1 34 35 |
|
||
| platypus (Ornithorhynchus anatinus) |
Mammalia | PROM1 35 |
|
OneToOne | |
| oppossum (Monodelphis domestica) |
Mammalia | PROM1 35 |
|
OneToOne | |
| chicken (Gallus gallus) |
Aves | PROM1 34 35 |
|
||
| lizard (Anolis carolinensis) |
Reptilia | PROM1 35 |
|
OneToOne | |
| tropical clawed frog (Silurana tropicalis) |
Amphibia | prom1 34 |
|
||
| zebrafish (Danio rerio) |
Actinopterygii | prom1a 34 35 |
|
||
| prom1b 35 |
|
OneToMany | |||
| -- 34 |
|
||||
| fruit fly (Drosophila melanogaster) |
Insecta | prom 35 |
|
OneToMany | |
| worm (Caenorhabditis elegans) |
Secernentea | F08B12.1 34 |
|
||
| prmn-1 35 |
|
OneToMany | |||
| sea squirt (Ciona savignyi) |
Ascidiacea | -- 35 |
|
OneToMany |
- Species where no ortholog for PROM1 was found in the sources mined by GeneCards:
-
- 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)
Paralogs for PROM1 Gene
(1) SIMAP similar genes for PROM1 Gene using alignment to 7 proteins:
Variants for PROM1 Gene
| SNP ID | Clin | Chr 04 pos | Sequence Context | AA Info | Type |
|---|---|---|---|---|---|
| rs137853006 | Pathogenic, Cone-rod dystrophy 12 (CORD12) [MIM:612657], Retinal macular dystrophy 2 (MCDR2) [MIM:608051], Stargardt disease 4 (STGD4) [MIM:603786] | 16,013,299(-) | TACAA(C/T)GCCAA | reference, missense | |
| rs137853005 | Pathogenic | 15,994,028(-) | ACCTG(A/C/T)AGAAC | reference, missense, stop-gained | |
| rs137853907 | Pathogenic | 16,000,517(-) | CCTTA(A/C)ACGAG | reference, stop-gained | |
| rs543698823 | Pathogenic | 16,006,637(+) | GTAGT(-/A)AAAAA | reference, frameshift-variant | |
| rs746174328 | Pathogenic | 16,009,072(+) | TGTCG(-/AT)ATCTG | reference, frameshift-variant |
Residual Variation Intolerance Score:
89.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
2.13;
38.72% of all genes are more intolerant (likely to be disease-causing)
Relevant External Links for PROM1 Gene
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PROM1 Gene
Disorders for PROM1 Gene
(31) MalaCards diseases for PROM1 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, and GeneCards
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| macular dystrophy, retinal, 2 |
|
|
| stargardt disease 4 |
|
|
| cone-rod dystrophy 12 |
|
|
| retinitis pigmentosa 41 |
|
|
| stargardt disease |
|
|
Search PROM1 in MalaCards
View complete list of genes associated with diseases
UniProtKB/Swiss-Prot
PROM1_HUMAN- 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, due to cone photoreceptors degenerating at a higher rate than rod photoreceptors. {ECO:0000269 PubMed:18654668}. 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. {ECO:0000269 PubMed:18654668}. Note=The disease is caused by mutations affecting the gene represented in this entry.
- 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.
- 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. {ECO:0000269 PubMed:18654668}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Relevant External Links for PROM1
No data available for Genatlas for PROM1 Gene
Publications for PROM1 Gene
- 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 22 64
- Nomenclature of prominin-1 (CD133) splice variants - an update. (PMID: 17498271) Fargeas C.A. … Corbeil D. (Tissue Antigens 2007) 3 4 22 64
- 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 22 64
- AC133, a novel marker for human hematopoietic stem and progenitor cells. (PMID: 9389720) Yin A.H. … Buck D.W. (Blood 1997) 3 4 22 64
- Post-translational regulation of CD133 by ATase1/ATase2-mediated lysine acetylation. (PMID: 24556617) Mak A.B. … Moffat J. (J. Mol. Biol. 2014) 3 4 64
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Sources for PROM1 Gene
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