Version 5.4
| Homo sapiens Gene: RP1L1 | |||||||
|---|---|---|---|---|---|---|---|
| Summary | |||||||
| InnateDB Gene | IDBG-7068.6 | ||||||
| Last Modified | 2014-10-13 [Report errors or provide feedback] | ||||||
| Gene Symbol | RP1L1 | ||||||
| Gene Name | retinitis pigmentosa 1-like 1 | ||||||
| Synonyms | |||||||
| Species | Homo sapiens | ||||||
| Ensembl Gene | ENSG00000183638 | ||||||
| Encoded Proteins |
retinitis pigmentosa 1-like 1
|
||||||
| Protein Structure | |||||||
| Useful resources | Stemformatics EHFPI ImmGen | ||||||
| Entrez Gene | |||||||
| Summary |
This gene encodes a member of the doublecortin family. The protein encoded by this gene contains two N-terminal doublecortin domains, which bind microtubules and regulate microtubule polymerization, and two C-terminal large repetitive regions, both of which contain a high percentage of glutamine and glutamic acid residues. This protein is a retinal-specific protein. Its exact length varies among individuals due to the presence of a 16aa repeat in the first C-terminal repetitive region. The 16aa repeat is encoded by the highly polymorphic 48-bp repeat, and 1-6 copies of the 16aa repeat have been identified in normal individuals. The current reference sequence shown here has a single copy of the 16aa repeat. This protein and the RP1 protein, another retinal-specific protein, play essential and synergistic roles in affecting photosensitivity and outer segment morphogenesis of rod photoreceptors. Mutations in this gene cause occult macular dystrophy (OMD). [provided by RefSeq, Sep 2010] |
||||||
| Gene Information | |||||||
| Type | Protein coding | ||||||
| Genomic Location | Chromosome 8:10606349-10712187 | ||||||
| Strand | Reverse strand | ||||||
| Band | p23.1 | ||||||
| Transcripts |
|
||||||
| Interactions | |||||||
| Number of Interactions |
This gene and/or its encoded proteins are associated with 0 experimentally validated interaction(s) in this database.
|
||||||
| Gene Ontology | |||||||
Molecular Function |
|
||||||
| Biological Process |
|
||||||
| Cellular Component |
|
||||||
| Orthologs | |||||||
|
Species
Mus musculus
Bos taurus
|
Gene ID
Gene Order
Not yet available
|
||||||
| Cross-References | |||||||
| SwissProt | |||||||
| TrEMBL | A6NKC6 | ||||||
| UniProt Splice Variant | |||||||
| Entrez Gene | 94137 | ||||||
| UniGene | Hs.619993 | ||||||
| RefSeq | NM_178857 | ||||||
| HUGO | HGNC:15946 | ||||||
| OMIM | 608581 | ||||||
| CCDS | CCDS43708 | ||||||
| HPRD | |||||||
| IMGT | |||||||
| EMBL | AC104964 AC105001 | ||||||
| GenPept | |||||||
| RNA Seq Atlas | 94137 | ||||||