Homo sapiens Gene: PROM1
Summary
InnateDB Gene IDBG-10779.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol PROM1
Gene Name prominin 1
Synonyms AC133; CD133; CORD12; MCDR2; PROML1; RP41; STGD4;
Species Homo sapiens
Ensembl Gene ENSG00000007062
Encoded Proteins
prominin 1
prominin 1
prominin 1
prominin 1
prominin 1
prominin 1
prominin 1
prominin 1
prominin 1
prominin 1
prominin 1
prominin 1
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary 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]
Gene Information
Type Protein coding
Genomic Location Chromosome 4:15963076-16084378
Strand Reverse strand
Band p15.32
Transcripts
ENST00000447510 ENSP00000415481
ENST00000503884 ENSP00000423860
ENST00000505450 ENSP00000426090
ENST00000513448
ENST00000508167 ENSP00000427346
ENST00000510224 ENSP00000426809
ENST00000513946 ENSP00000424738
ENST00000511270
ENST00000511153 ENSP00000424569
ENST00000502943
ENST00000508322 ENSP00000425927
ENST00000508940 ENSP00000422704
ENST00000514967 ENSP00000423793
ENST00000504842
ENST00000513108
ENST00000502501
ENST00000514693
ENST00000512304
ENST00000540805 ENSP00000438045
ENST00000539194 ENSP00000443620
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 6 experimentally validated interaction(s) in this database.
They are also associated with 1 interaction(s) predicted by orthology.
Experimentally validated
Total 6 [view]
Protein-Protein 5 [view]
Protein-DNA 1 [view]
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Predicted by orthology
Total 1 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0005515 protein binding
GO:0042805 actinin binding
GO:0045296 cadherin binding
Biological Process
GO:0010842 retina layer formation
GO:0045494 photoreceptor cell maintenance
GO:0060042 retina morphogenesis in camera-type eye
GO:0060219 camera-type eye photoreceptor cell differentiation
GO:0072112 glomerular visceral epithelial cell differentiation
GO:0072139 glomerular parietal epithelial cell differentiation
GO:2000768 positive regulation of nephron tubule epithelial cell differentiation
Cellular Component
GO:0001750 photoreceptor outer segment
GO:0005615 extracellular space
GO:0005886 plasma membrane
GO:0005887 integral component of plasma membrane
GO:0005902 microvillus
GO:0005903 brush border
GO:0009986 cell surface
GO:0016021 integral component of membrane
GO:0016324 apical plasma membrane
GO:0031528 microvillus membrane
GO:0032420 stereocilium
GO:0042622 photoreceptor outer segment membrane
GO:0042995 cell projection
GO:0070062 extracellular vesicular exosome
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
Method
Confidence
Comments
Non-SSD Ortholog
Possible paralog/unusual divergence/ gene prediction error
Not yet available
Non-SSD Ortholog
Possible paralog/unusual divergence/ gene prediction error
Cross-References
SwissProt
TrEMBL
UniProt Splice Variant
Entrez Gene
UniGene Hs.614734 Hs.622476 Hs.736099
RefSeq NM_001145847 NM_001145848 NM_001145849 NM_001145850 NM_001145851 NM_001145852 NM_006017 XM_006713973 XM_006713974
HUGO
OMIM
CCDS CCDS47029 CCDS54746 CCDS54747 CCDS54748
HPRD 05079
IMGT
EMBL
GenPept
RNA Seq Atlas