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Retinitis Pigmentosa 1 Like Protein 1 (RP1L1)

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DCDC4B

Retinitis Pigmentosa 1 Like Protein 1 (RP1L1)
CCC P161
HGNC 15946
MGI 2384303
PubMed 19657028
UniProt Q8IWN7
The deduced 2,464-amino acid protein contains 2 N-terminal doublecortin (DC) domains, 2 imperfect repeats of a 16-amino acid module, and 2 C-terminal coiled-coil domains.
RP1L1 shares 39% amino acid identity with mouse Rp1l1, with highest identity in the N-terminal region. Mouse Rp1l1 does not contain the coiled-coil domain or the 2 repeats found in human RP1L1. RP1L1 also shares significant similarity in the N-terminal DC domains with RP1. Semiquantitative RT-PCR showed RP1L1 expression only in retina. Northern blot analysis of adult mouse tissues detected 2 weak bands of about 7.5 and 5.0 kb only in retina. EST database analysis detected RP1L1 sequences only in retina and eye cDNA libraries.RP1L1 gene contains 4 exons and spans 52 kb.

Organism species: Homo sapiens (Human)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins n/a Recombinant Retinitis Pigmentosa 1 Like Protein 1 (RP1L1) Recombinant Protein Customized Service Offer
Antibodies n/a Monoclonal Antibody to Retinitis Pigmentosa 1 Like Protein 1 (RP1L1) Monoclonal Antibody Customized Service Offer
n/a Polyclonal Antibody to Retinitis Pigmentosa 1 Like Protein 1 (RP1L1) Polyclonal Antibody Customized Service Offer
Assay Kits n/a CLIA Kit for Retinitis Pigmentosa 1 Like Protein 1 (RP1L1) CLIA Kit Customized Service Offer
n/a ELISA Kit for Retinitis Pigmentosa 1 Like Protein 1 (RP1L1) ELISA Kit Customized Service Offer

Organism species: Mus musculus (Mouse)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins n/a Recombinant Retinitis Pigmentosa 1 Like Protein 1 (RP1L1) Recombinant Protein Customized Service Offer
Antibodies n/a Monoclonal Antibody to Retinitis Pigmentosa 1 Like Protein 1 (RP1L1) Monoclonal Antibody Customized Service Offer
n/a Polyclonal Antibody to Retinitis Pigmentosa 1 Like Protein 1 (RP1L1) Polyclonal Antibody Customized Service Offer
Assay Kits n/a CLIA Kit for Retinitis Pigmentosa 1 Like Protein 1 (RP1L1) CLIA Kit Customized Service Offer
n/a ELISA Kit for Retinitis Pigmentosa 1 Like Protein 1 (RP1L1) ELISA Kit Customized Service Offer
  1. "Characterization of RP1L1, a highly polymorphic paralog of the retinitis pigmentosa 1 (RP1) gene."Mol. Vis. 9:129-137(2003) [PubMed] [Europe PMC] [Abstract]
  2. "Identification and characterization of the retinitis pigmentosa 1-like1 gene (rp1l1): a novel candidate for retinal degenerations."Eur. J. Hum. Genet. 11:155-162(2003) [PubMed] [Europe PMC] [Abstract]
  3. "Complete sequencing and characterization of 21,243 full-length human cDNAs." Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
  4. "DNA sequence and analysis of human chromosome 8." Nature 439:331-335(2006) [PubMed] [Europe PMC] [Abstract]
  5. "Dominant mutations in RP1L1 are responsible for occult macular dystrophy."Am. J. Hum. Genet. 87:424-429(2010) [PubMed] [Europe PMC] [Abstract]
  6. "A new mutation in the RP1L1 gene in a patient with occult macular dystrophy associated with a depolarizing pattern of focal macular electroretinograms."Mol. Vis. 18:1031-1039(2012) [PubMed] [Europe PMC] [Abstract]