Bos taurus Gene: RP1L1
Summary
InnateDB Gene IDBG-629476.3
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol RP1L1
Gene Name Uncharacterized protein
Synonyms
Species Bos taurus
Ensembl Gene ENSBTAG00000020155
Encoded Proteins
retinitis pigmentosa 1-like 1
retinitis pigmentosa 1-like 1
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary This gene does not have any Entrez summary - the following is the summary from its human ortholog ENSG00000183638:
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 8:8508960-8518765
Strand Forward strand
Band
Transcripts
ENSBTAT00000026846 ENSBTAP00000026846
ENSBTAT00000064867 ENSBTAP00000054813
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
Accession GO Term
Biological Process
GO:0035556 intracellular signal transduction
GO:0042461 photoreceptor cell development
GO:0045494 photoreceptor cell maintenance
Cellular Component
GO:0001750 photoreceptor outer segment
GO:0005930 axoneme
GO:0032391 photoreceptor connecting cilium
Orthologs
Species
Homo sapiens
Mus musculus
Gene ID
Gene Order
Cross-References
SwissProt
TrEMBL G3MZ22
UniProt Splice Variant
Entrez Gene
UniGene
RefSeq
HUGO HGNC:15946
OMIM
CCDS
HPRD
IMGT
EMBL DAAA02021941 DAAA02021942
GenPept
RNA Seq Atlas