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This gene encodes a protein with a series of six RCC1-like domains (RLDs), characteristic of the highly conserved guanine nucleotide exchange factors. The encoded protein is found in the Golgi body and interacts with RPGRIP1. This protein localizes to the outer segment of rod photoreceptors and is essential for their viability. Mutations in this gene have been associated with X-linked retinitis pigmentosa (XLRP). Multiple alternatively spliced transcript variants that encode different isoforms of this gene have been reported, but the full-length natures of only some have been determined. [provided by RefSeq, Dec 2008]
RPGR (Retinitis Pigmentosa GTPase Regulator) is a Protein Coding gene. Diseases associated with RPGR include Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections, With Or Without Deafness and Retinitis Pigmentosa 3. Gene Ontology (GO) annotations related to this gene include guanyl-nucleotide exchange factor activity. An important paralog of this gene is HERC1.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0003723 | RNA binding | HDA | 22658674 |
GO:0005085 | guanyl-nucleotide exchange factor activity | IEA | -- |
GO:0005515 | protein binding | IPI | 9990021 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0001750 | photoreceptor outer segment | IDA | 12140192 |
GO:0005737 | cytoplasm | IEA | -- |
GO:0005794 | Golgi apparatus | ISS | -- |
GO:0005813 | centrosome | IDA | 15772089 |
GO:0005815 | microtubule organizing center | IEA | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0006886 | intracellular protein transport | TAS | 9990021 |
GO:0007601 | visual perception | IMP | 9399904 |
GO:0030030 | cell projection organization | IEA | -- |
GO:0042073 | intraciliary transport | ISS | -- |
GO:0050896 | response to stimulus | IEA | -- |
ExUns: | 1a | · | 1b | ^ | 2 | ^ | 3 | ^ | 4 | ^ | 5 | ^ | 6 | ^ | 7 | ^ | 8 | ^ | 9 | ^ | 10 | ^ | 11 | ^ | 12a | · | 12b | ^ | 13 | ^ | 14 | ^ | 15a | · | 15b | ^ | 16 | ^ | 17 | ^ | 18 | ^ | 19 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | ||||||||||||||||||||||||||||||||||||||||||
SP2: | - | - | |||||||||||||||||||||||||||||||||||||||||
SP3: | - | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||
SP4: | |||||||||||||||||||||||||||||||||||||||||||
SP5: | |||||||||||||||||||||||||||||||||||||||||||
SP6: | - | - | - | - |
This gene was present in the common ancestor of chordates.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | RPGR 30 |
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||
Dog (Canis familiaris) |
Mammalia | RPGR 30 |
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||
Rat (Rattus norvegicus) |
Mammalia | Rpgr 30 |
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||
Mouse (Mus musculus) |
Mammalia | Rpgr 30 17 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | RPGR 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | RPGR 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | RPGR 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | RPGR 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | RPGR 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | rpgr 30 |
|
||
Str.3813 30 |
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Zebrafish (Danio rerio) |
Actinopterygii | rpgrb 30 31 |
|
OneToMany | |
rpgra 31 |
|
OneToMany | |||
Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
OneToOne |
SNP ID | Clinical significance and condition | Chr 0X pos | Variation | AA Info | Type |
---|---|---|---|---|---|
636101 | Likely Pathogenic: Retinitis pigmentosa | 38,299,022(-) | A/C | NONSENSE,NON_CODING_TRANSCRIPT_VARIANT,INTRON_VARIANT | |
636102 | Pathogenic: Retinitis pigmentosa; Retinal dystrophy | 38,298,967(-) | G/A | NONSENSE,NON_CODING_TRANSCRIPT_VARIANT,INTRON_VARIANT | |
636103 | Likely Pathogenic: Retinitis pigmentosa | 38,298,961(-) | CTCTT/C | FRAMESHIFT_VARIANT,NON_CODING_TRANSCRIPT_VARIANT,INTRON_VARIANT | |
636104 | Likely Pathogenic: Cone-rod dystrophy | 38,322,946(-) | C/T | SPLICE_ACCEPTOR_VARIANT | |
636105 | Likely Pathogenic: Retinitis pigmentosa | 38,288,044(-) | G/C | INTRON_VARIANT |
Disorder | Aliases | PubMed IDs |
---|---|---|
retinitis pigmentosa, x-linked, and sinorespiratory infections, with or without deafness |
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|
retinitis pigmentosa 3 |
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|
cone-rod dystrophy, x-linked, 1 |
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|
macular degeneration, x-linked atrophic |
|
|
retinitis pigmentosa |
|