Rp1l1 Gene Summary [Mouse]

This gene encodes a member of the doublecortin family. This protein is a retinal-specific protein. It contains two N-terminal doublecortin domains, which can assemble and stabilize axonemal microtubules, but lacks the C-terminal repetitive regions including the 16aa repeat found in human RP1L1. 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. [provided by RefSeq, Sep 2010]

Details

Type
Protein Coding
Official Symbol
Rp1l1
Official Name
retinitis pigmentosa 1 homolog like 1 [Source:MGI Symbol;Acc:MGI:2384303]
Ensembl ID
ENSMUSG00000046049
Bio databases IDs NCBI: 271209 Ensembl: ENSMUSG00000046049
Aliases retinitis pigmentosa 1 homolog like 1
Synonyms AC270276.1, BE983540, Dcdc4, DCDC4B, OCMD, retinitis pigmentosa 1 homolog like 1, RP1HL1, RP1 like 1, RP88
Species
Mouse, Mus musculus
OrthologiesHumanRat

Protein Domains

A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in mouse Rp1l1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
  • Doublecortin
  • Ubl1_cv_Nsp3_N-like

Top Findings

The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
  • retinitis pigmentosa type 88
  • retinal dystrophy
  • occult macular dystrophy
  • neuroticism
  • suicide
  • abnormality of the integument
  • autosomal recessive retinitis pigmentosa
  • osteoarthritis
  • retinitis pigmentosa
  • optic atrophy
role in cell
  • degeneration
  • abnormal morphology
  • development
  • number
  • maintenance
  • electrophysiology

Subcellular Expression

Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
  • Cytoplasm
  • axonemes
  • connecting cilia
  • photoreceptor outer segments

Gene Ontology Annotations

Describes the biological processes, cellular components, and molecular functions associated with the mouse Rp1l1 gene, providing context for its role in the cell.

Biological Process

Functions and activities the gene product is involved in
  • retina development in camera-type eye
  • photoreceptor cell maintenance
  • photoreceptor cell development
  • axoneme assembly
  • visual perception
  • intracellular signal transduction

Cellular Component

Where in the cell the gene product is active
  • photoreceptor connecting cilium
  • axoneme
  • photoreceptor outer segment
  • microtubule

Gene-Specific Assays for Results You Can Trust

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