Homo sapiens Gene: RP1L1 | |||||||
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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
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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] |
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Gene Information | |||||||
Type | Protein coding | ||||||
Genomic Location | Chromosome 8:10606349-10712187 | ||||||
Strand | Reverse strand | ||||||
Band | p23.1 | ||||||
Transcripts |
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Interactions | |||||||
Number of Interactions |
This gene and/or its encoded proteins are associated with 0 experimentally validated interaction(s) in this database.
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Gene Ontology | |||||||
Molecular Function |
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Biological Process |
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Cellular Component |
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Orthologs | |||||||
Species
Mus musculus
Bos taurus
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Gene ID
Gene Order
Not yet available
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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 | ||||||