Symbol: Name: ID: |
RP1L1 retinitis pigmentosa 1-like 1 GFS:5077 |
Gene name: | RP1L1 |
Chromosome: | 8p23 |
Previous Symbols: | |
Previous Names: | |
Aliases: | DCDC4B |
Name Aliases: | |
Locus Type: | gene with protein product |
Mouse Genome Database ID: | MGI:2384303 | Rat Genome Database ID: | |
HGNC ID: | HGNC:15946 | RefSeq IDs: | NM_178857 |
Entrez Gene ID: | 94137 | Ensembl Gene ID: | ENSG00000183638 |
VEGA IDs: | UniProt ID: | Q8IWN7 | |
UCSC ID: | uc003wtc.2 | OMIM ID: | 608581 |
Pubmed: | PMID12634863 | ||
CCDS IDs: | CCDSCCDS43708.1 |
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].
Function: Required for the differentiation of photoreceptor cells. Plays a role in the organization of outer segment of rod and cone photoreceptors (By similarity).
Products for RP1L1 gene
Catalog | Product Name | Application | Company |
GFS:E05077 | retinitis pigmentosa 1-like 1; ELISA kit | ELISA | n/a |
GFS:A05077 | retinitis pigmentosa 1-like 1; Anti | ANTIBODIES | n/a |
GFS:P05077 | retinitis pigmentosa 1-like 1; Protien | Protien | n/a |