QuickView for RP1L1 (gene)

Gene Symbol:

RP1L1 Homo sapiens

Full name:

RP1 like 1

Synonyms:

DCDC4B, retinitis pigmentosa 1-like 1 protein, doublecortin domain containing 4B, retinitis pigmentosa 1 like 1

Genomic Location:

Chr 8: 10501269-10550027

Description:

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...

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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).

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Orthologs:

Mus musculus ,  Rattus norvegicus ,  Macaca mulatta ,  Pan troglodytes ,  Canis lupus familiaris ,  Bos taurus

External Links:

Entrez Gene

Transcription Factor
Binding Sites:

AP1_C ,  TTANTCA_UNKNOWN ,  HOXA4_Q2 ,  NKX3A_01 ,  TGACCTY_ERR1_Q2 ,  PAX4_02 ,  GGATTA_PITX2_Q2 ,  FREAC3_01 ,  CAGGTG_E12_Q6 ,  AP1_Q4 ,  CHX10_01 ,  TAATTA_CHX10_01 ,  TAL1BETAITF2_01 ,  TGATTTRY_GFI1_01 ,  AP1_Q2

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Cytogenetic Map:

8p23.1

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