Q92834 · RPGR_HUMAN
- ProteinX-linked retinitis pigmentosa GTPase regulator
- GeneRPGR
- StatusUniProtKB reviewed (Swiss-Prot)
- Organism
- Amino acids1020 (go to sequence)
- Protein existenceEvidence at protein level
- Annotation score5/5
Function
function
May be involved in microtubule organization and regulation of transport in primary cilia
GO annotations
all annotations | all molecular function | virus receptor activity | dna binding | rna binding | cytoskeletal motor activity | catalytic activity | gtpase activity | structural molecule activity | transporter activity | cytoskeletal protein binding | lipid binding | cyclase activity | antioxidant activity | oxidoreductase activity | transferase activity | hydrolase activity | lyase activity | isomerase activity | ligase activity | protein tag activity | cargo receptor activity | histone binding | protein folding chaperone | translation regulator activity | nutrient reservoir activity | receptor ligand activity | molecular transducer activity | molecular adaptor activity | toxin activity | cell adhesion mediator activity | molecular function regulator activity | virus coreceptor activity | catalytic activity, acting on a protein | catalytic activity, acting on dna | catalytic activity, acting on rna | molecular carrier activity | transcription regulator activity | general transcription initiation factor activity | molecular sensor activity | molecular sequestering activity | atp-dependent activity | other molecular function | all biological process | mitotic cell cycle | cytokinesis | cytoplasmic translation | immune system process | muscle system process | circulatory system process | renal system process | respiratory system process | carbohydrate metabolic process | generation of precursor metabolites and energy | dna replication | dna repair | dna recombination | chromatin organization | dna-templated transcription | regulation of dna-templated transcription | trna metabolic process | protein folding | protein glycosylation | amino acid metabolic process | modified amino acid metabolic process | lipid metabolic process | vitamin metabolic process | sulfur compound metabolic process | intracellular protein transport | nucleocytoplasmic transport | autophagy | inflammatory response | mitochondrion organization | cytoskeleton organization | microtubule-based movement | peroxisome organization | lysosome organization | chromosome segregation | cell adhesion | establishment or maintenance of cell polarity | programmed cell death | photosynthesis | mrna metabolic process | snrna metabolic process | vesicle-mediated transport | reproductive process | digestive system process | signaling | cell differentiation | protein catabolic process | extracellular matrix organization | regulatory ncrna-mediated gene silencing | telomere organization | cell junction organization | wound healing | ribosome biogenesis | cilium organization | anatomical structure development | cell motility | nervous system process | endocrine process | protein maturation | transmembrane transport | nucleobase-containing small molecule metabolic process | hepaticobiliary system process | membrane organization | protein-containing complex assembly | cell wall organization or biogenesis | nitrogen cycle metabolic process | protein localization to plasma membrane | defense response to other organism | detoxification | meiotic nuclear division | mitotic nuclear division | mitochondrial gene expression | carbohydrate derivative metabolic process | other biological process | all cellular component | nuclear chromosome | extracellular region | extracellular space | cell wall | nucleus | nuclear envelope | nucleoplasm | chromosome | nucleolus | mitochondrion | lysosome | endosome | vacuole | peroxisome | endoplasmic reticulum | golgi apparatus | lipid droplet | microtubule organizing center | cytosol | ribosome | cytoskeleton | plasma membrane | cilium | plastid | thylakoid | external encapsulating structure | extracellular matrix | cytoplasmic vesicle | organelle | other cellular component | |||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
Aspect | Term | |
---|---|---|
Cellular Component | centrosome | |
Cellular Component | ciliary basal body | |
Cellular Component | cytoplasm | |
Cellular Component | Golgi apparatus | |
Cellular Component | photoreceptor outer segment | |
Cellular Component | sperm flagellum | |
Molecular Function | guanyl-nucleotide exchange factor activity | |
Molecular Function | RNA binding | |
Molecular Function | ubiquitin protein ligase activity | |
Biological Process | cilium assembly | |
Biological Process | intracellular protein transport | |
Biological Process | intraciliary transport | |
Biological Process | protein ubiquitination | |
Biological Process | ubiquitin-dependent protein catabolic process | |
Biological Process | visual perception |
Keywords
- Molecular function
- Biological process
Enzyme and pathway databases
Names & Taxonomy
Protein names
- Recommended nameX-linked retinitis pigmentosa GTPase regulator
Gene names
Organism names
- Organism
- Taxonomic lineageEukaryota > Metazoa > Chordata > Craniata > Vertebrata > Euteleostomi > Mammalia > Eutheria > Euarchontoglires > Primates > Haplorrhini > Catarrhini > Hominidae > Homo
Accessions
- Primary accessionQ92834
- Secondary accessions
Proteomes
Organism-specific databases
Subcellular Location
Colocalizes with WHRN in the photoreceptor connecting cilium (By similarity).
Colocalizes with CEP290 in the photoreceptor connecting cilium (By similarity).
Colocalizes with RPGRIP1 in the photoreceptor connecting cilium (By similarity).
Isoform 6
Keywords
- Cellular component
Disease & Variants
Involvement in disease
Retinitis pigmentosa 3 (RP3)
- Note
- DescriptionAn X-linked retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well. In RP3, affected males have a severe phenotype, and carrier females show a wide spectrum of clinical features ranging from completely asymptomatic to severe retinitis pigmentosa. Heterozygous women can manifest a form of choroidoretinal degeneration which is distinguished from other types by the absence of visual defects in the presence of a brilliant, scintillating, golden-hued, patchy appearance most striking around the macula, called a tapetal-like retinal reflex.
- See alsoMIM:300029
Natural variants in RP3
Variant ID | Position(s) | Change | Description | |
---|---|---|---|---|
VAR_018057 | 43 | G>E | in RP3; dbSNP:rs62638630 | |
VAR_018058 | 43 | G>R | in RP3; dbSNP:rs62638629 | |
VAR_008501 | 60 | G>V | in RP3; dbSNP:rs62638634 | |
VAR_008503 | 75 | I>V | in RP3; benign; dbSNP:rs111631988 | |
VAR_008504 | 98 | H>Q | in RP3; reduces interaction with PDE6D; dbSNP:rs62638636 | |
VAR_013625 | 99 | T>N | in RP3; dbSNP:rs62638637 | |
VAR_018059 | 127 | R>G | in RP3; dbSNP:rs62638643 | |
VAR_006850 | 130 | F>C | in RP3; reduces interaction with PDE6D; dbSNP:rs62638644 | |
VAR_025949 | 152 | S>L | in RP3 | |
VAR_018060 | 173 | G>R | in RP3 and RPSRDF; dbSNP:rs137852550 | |
VAR_008505 | 215 | G>V | in RP3; reduces interaction with PDE6D; dbSNP:rs62650218 | |
VAR_006851 | 235 | P>S | in RP3; reduces interaction with PDE6D; dbSNP:rs62638651 | |
VAR_008506 | 250 | C>R | in RP3; reduces interaction with PDE6D; dbSNP:rs62650220 | |
VAR_018061 | 250 | C>Y | in RP3; dbSNP:rs1601961064 | |
VAR_018062 | 258 | missing | in RP3 | |
VAR_008507 | 262 | A>G | in RP3; uncertain significance; dbSNP:rs138018739 | |
VAR_018063 | 267 | G>E | in RP3 | |
VAR_026127 | 267 | G>R | in RP3; dbSNP:rs2147248035 | |
VAR_006852 | 275 | G>S | in RP3; reduces interaction with PDE6D; dbSNP:rs62642057 | |
VAR_026128 | 285 | E>G | in RP3 | |
VAR_013626 | 289 | I>V | in RP3; dbSNP:rs62640587 | |
VAR_013627 | 296-300 | missing | in RP3 | |
VAR_011561 | 302 | C>R | in RP3; dbSNP:rs62640589 | |
VAR_018064 | 302 | C>Y | in RP3; dbSNP:rs62640590 | |
VAR_018065 | 312 | D>N | in RP3 | |
VAR_018066 | 312 | D>Y | in RP3 | |
VAR_018067 | 320 | G>R | in RP3; impairs protein folding; dbSNP:rs62640593 | |
VAR_008510 | 436 | G>D | in RP3; dbSNP:rs62635004 |
Retinitis pigmentosa, X-linked, and sinorespiratory infections with or without deafness (RPSRDF)
- Note
- DescriptionA disease characterized by the association of retinitis pigmentosa with recurrent upper and lower airway infections. Some patients also develop progressive hearing loss.
- See alsoMIM:300455
Natural variants in RPSRDF
Variant ID | Position(s) | Change | Description | |
---|---|---|---|---|
VAR_018060 | 173 | G>R | in RP3 and RPSRDF; dbSNP:rs137852550 |
Cone-rod dystrophy, X-linked 1 (CORDX1)
- Note
- DescriptionAn inherited retinal dystrophy characterized by retinal pigment deposits visible on fundus examination, predominantly in the macular region, and initial loss of cone photoreceptors followed by rod degeneration. This leads to decreased visual acuity and sensitivity in the central visual field, followed by loss of peripheral vision. Severe loss of vision occurs earlier than in retinitis pigmentosa. In cone-rod dystrophy X-linked type 1 the degree of rod-photoreceptor involvement can be variable, with degeneration increasing as the disease progresses. Affected individuals (essentially all of whom are males) present with decreased visual acuity, myopia, photophobia, abnormal color vision, full peripheral visual fields, decreased photopic electroretinographic responses, and granularity of the macular retinal pigment epithelium. Although penetrance appears to be nearly 100%, there is variable expressivity with respect to age at onset and severity of symptoms.
- See alsoMIM:304020
Macular degeneration, atrophic, X-linked (MDXLA)
- Note
- DescriptionAn ocular disorder characterized by macular atrophy causing progressive loss of visual acuity with minimal peripheral visual impairment. Some patients manifest extensive macular degeneration plus peripheral loss of retinal pigment epithelium and choriocapillaries. Full-field electroretinograms (ERGs) show normal cone and rod responses in some affected males despite advanced macular degeneration.
- See alsoMIM:300834
Features
Showing features for mutagenesis, natural variant.
Type | ID | Position(s) | Description | |||
---|---|---|---|---|---|---|
Mutagenesis | 36 | Does not reduce interaction with PDE6D. | ||||
Sequence: V → F | ||||||
Natural variant | VAR_018057 | 43 | in RP3; dbSNP:rs62638630 | |||
Sequence: G → E | ||||||
Natural variant | VAR_018058 | 43 | in RP3; dbSNP:rs62638629 | |||
Sequence: G → R | ||||||
Natural variant | VAR_008501 | 60 | in RP3; dbSNP:rs62638634 | |||
Sequence: G → V | ||||||
Natural variant | VAR_008503 | 75 | in RP3; benign; dbSNP:rs111631988 | |||
Sequence: I → V | ||||||
Natural variant | VAR_013624 | 76 | in dbSNP:rs1801685 | |||
Sequence: S → I | ||||||
Natural variant | VAR_008504 | 98 | in RP3; reduces interaction with PDE6D; dbSNP:rs62638636 | |||
Sequence: H → Q | ||||||
Natural variant | VAR_013625 | 99 | in RP3; dbSNP:rs62638637 | |||
Sequence: T → N | ||||||
Natural variant | VAR_018059 | 127 | in RP3; dbSNP:rs62638643 | |||
Sequence: R → G | ||||||
Natural variant | VAR_006850 | 130 | in RP3; reduces interaction with PDE6D; dbSNP:rs62638644 | |||
Sequence: F → C | ||||||
Natural variant | VAR_025949 | 152 | in RP3 | |||
Sequence: S → L | ||||||
Natural variant | VAR_018060 | 173 | in RP3 and RPSRDF; dbSNP:rs137852550 | |||
Sequence: G → R | ||||||
Natural variant | VAR_033259 | 184 | in dbSNP:rs5963403 | |||
Sequence: Q → H | ||||||
Natural variant | VAR_008505 | 215 | in RP3; reduces interaction with PDE6D; dbSNP:rs62650218 | |||
Sequence: G → V | ||||||
Natural variant | VAR_006851 | 235 | in RP3; reduces interaction with PDE6D; dbSNP:rs62638651 | |||
Sequence: P → S | ||||||
Natural variant | VAR_008506 | 250 | in RP3; reduces interaction with PDE6D; dbSNP:rs62650220 | |||
Sequence: C → R | ||||||
Natural variant | VAR_018061 | 250 | in RP3; dbSNP:rs1601961064 | |||
Sequence: C → Y | ||||||
Natural variant | VAR_018062 | 258 | in RP3 | |||
Sequence: Missing | ||||||
Natural variant | VAR_008507 | 262 | in RP3; uncertain significance; dbSNP:rs138018739 | |||
Sequence: A → G | ||||||
Natural variant | VAR_018063 | 267 | in RP3 | |||
Sequence: G → E | ||||||
Natural variant | VAR_026127 | 267 | in RP3; dbSNP:rs2147248035 | |||
Sequence: G → R | ||||||
Natural variant | VAR_006852 | 275 | in RP3; reduces interaction with PDE6D; dbSNP:rs62642057 | |||
Sequence: G → S | ||||||
Natural variant | VAR_026128 | 285 | in RP3 | |||
Sequence: E → G | ||||||
Natural variant | VAR_013626 | 289 | in RP3; dbSNP:rs62640587 | |||
Sequence: I → V | ||||||
Natural variant | VAR_013627 | 296-300 | in RP3 | |||
Sequence: Missing | ||||||
Natural variant | VAR_011561 | 302 | in RP3; dbSNP:rs62640589 | |||
Sequence: C → R | ||||||
Natural variant | VAR_018064 | 302 | in RP3; dbSNP:rs62640590 | |||
Sequence: C → Y | ||||||
Natural variant | VAR_018065 | 312 | in RP3 | |||
Sequence: D → N | ||||||
Natural variant | VAR_018066 | 312 | in RP3 | |||
Sequence: D → Y | ||||||
Natural variant | VAR_018067 | 320 | in RP3; impairs protein folding; dbSNP:rs62640593 | |||
Sequence: G → R | ||||||
Mutagenesis | 323 | Abolishes interaction with RPGRIP1. | ||||
Sequence: R → E | ||||||
Natural variant | VAR_018068 | 345 | in dbSNP:rs41305223 | |||
Sequence: N → D | ||||||
Natural variant | VAR_008508 | 425 | in dbSNP:rs1801687 | |||
Sequence: R → K | ||||||
Natural variant | VAR_008509 | 431 | in dbSNP:rs62635003 | |||
Sequence: I → V | ||||||
Natural variant | VAR_008510 | 436 | in RP3; dbSNP:rs62635004 | |||
Sequence: G → D | ||||||
Natural variant | VAR_011562 | 526 | ||||
Sequence: Missing | ||||||
Natural variant | VAR_011563 | 533 | in dbSNP:rs41312104 | |||
Sequence: T → M | ||||||
Natural variant | VAR_008511 | 566 | in dbSNP:rs1801688 | |||
Sequence: G → E |
Variants
We now provide the "Disease & Variants" viewer in its own tab.
The viewer provides 951 variants from UniProt as well as other sources including ClinVar and dbSNP.
Keywords
- Disease
Organism-specific databases
Miscellaneous
Genetic variation databases
PTM/Processing
Features
Showing features for chain, modified residue, modified residue (large scale data), lipidation, propeptide.
Type | ID | Position(s) | Source | Description | |||
---|---|---|---|---|---|---|---|
Chain | PRO_0000206638 | 1-1017 | UniProt | X-linked retinitis pigmentosa GTPase regulator | |||
Sequence: MREPEELMPDSGAVFTFGKSKFAENNPGKFWFKNDVPVHLSCGDEHSAVVTGNNKLYMFGSNNWGQLGLGSKSAISKPTCVKALKPEKVKLAACGRNHTLVSTEGGNVYATGGNNEGQLGLGDTEERNTFHVISFFTSEHKIKQLSAGSNTSAALTEDGRLFMWGDNSEGQIGLKNVSNVCVPQQVTIGKPVSWISCGYYHSAFVTTDGELYVFGEPENGKLGLPNQLLGNHRTPQLVSEIPEKVIQVACGGEHTVVLTENAVYTFGLGQFGQLGLGTFLFETSEPKVIENIRDQTISYISCGENHTALITDIGLMYTFGDGRHGKLGLGLENFTNHFIPTLCSNFLRFIVKLVACGGCHMVVFAAPHRGVAKEIEFDEINDTCLSVATFLPYSSLTSGNVLQRTLSARMRRRERERSPDSFSMRRTLPPIEGTLGLSACFLPNSVFPRCSERNLQESVLSEQDLMQPEEPDYLLDEMTKEAEIDNSSTVESLGETTDILNMTHIMSLNSNEKSLKLSPVQKQKKQQTIGELTQDTALTENDDSDEYEEMSEMKEGKACKQHVSQGIFMTQPATTIEAFSDEEVGNDTGQVGPQADTDGEGLQKEVYRHENNNGVDQLDAKEIEKESDGGHSQKESEAEEIDSEKETKLAEIAGMKDLREREKSTKKMSPFFGNLPDRGMNTESEENKDFVKKRESCKQDVIFDSERESVEKPDSYMEGASESQQGIADGFQQPEAIEFSSGEKEDDEVETDQNIRYGRKLIEQGNEKETKPIISKSMAKYDFKCDRLSEIPEEKEGAEDSKGNGIEEQEVEANEENVKVHGGRKEKTEILSDDLTDKAEDHEFSKTEELKLEDVDEEINAENVESKKKTVGDDESVPTGYHSKTEGAERTNDDSSAETIEKKEKANLEERAICEYNENPKGYMLDDADSSSLEILENSETTPSKDMKKTKKIFLFKRVPSINQKIVKNNNEPLPEIKSIGDQIILKSDNKDADQNHMSQNHQNIPPTNTERRSKSC | |||||||
Modified residue | 418 | UniProt | Phosphoserine | ||||
Sequence: S | |||||||
Modified residue (large scale data) | 418 | PRIDE | Phosphoserine | ||||
Sequence: S | |||||||
Modified residue | 518 | UniProt | Phosphoserine | ||||
Sequence: S | |||||||
Modified residue (large scale data) | 518 | PRIDE | Phosphoserine | ||||
Sequence: S | |||||||
Modified residue (large scale data) | 895 | PRIDE | Phosphoserine | ||||
Sequence: S | |||||||
Modified residue (large scale data) | 961 | PRIDE | Phosphoserine | ||||
Sequence: S | |||||||
Modified residue | 1017 | UniProt | Cysteine methyl ester | ||||
Sequence: C | |||||||
Lipidation | 1017 | UniProt | S-geranylgeranyl cysteine | ||||
Sequence: C | |||||||
Propeptide | PRO_0000370844 | 1018-1020 | UniProt | Removed in mature form | |||
Sequence: TIL |
Post-translational modification
Keywords
- PTM
Proteomic databases
PTM databases
Expression
Tissue specificity
Gene expression databases
Organism-specific databases
Interaction
Subunit
Interacts with CEP290 (By similarity).
Interacts with WHRN (By similarity).
Interacts with PDE6D (PubMed:23559067, PubMed:24981858, PubMed:9990021).
Interacts with RPGRIP1 (PubMed:10958648, PubMed:24981858).
Interacts with RPGRIP1L (PubMed:19430481, PubMed:24981858).
PDE6D, RPGRIP1 and RPGRIP1L may compete for the same binding sites (PubMed:24981858).
Isoform 6 interacts with NPM1 (via C-terminus) (PubMed:15772089).
Isoform 6 interacts with SMC1A and SMC3 (PubMed:16043481).
Binary interactions
Type | Entry 1 | Entry 2 | Number of experiments | Intact | |
---|---|---|---|---|---|
BINARY | Q92834 | HOMEZ Q8IX15-3 | 3 | EBI-6558417, EBI-10172004 | |
BINARY | Q92834 | NPHP1 O15259 | 3 | EBI-6558417, EBI-953828 | |
BINARY | Q92834 | NPHP4 O75161 | 4 | EBI-6558417, EBI-4281852 | |
BINARY | Q92834 | PDE6D O43924 | 12 | EBI-6558417, EBI-712685 | |
XENO | Q92834 | Pde6d O55057 | 3 | EBI-6558417, EBI-6558402 | |
BINARY | Q92834 | RPGRIP1 Q96KN7 | 10 | EBI-6558417, EBI-1050213 | |
BINARY | Q92834 | RPGRIP1 Q96KN7-4 | 3 | EBI-6558417, EBI-11525164 | |
BINARY | Q92834-2 | PDE6D O43924 | 3 | EBI-6558503, EBI-712685 | |
XENO | Q92834-2 | Pde6d O55057 | 3 | EBI-6558503, EBI-6558402 | |
BINARY | Q92834-6 | DCTN1 Q14203-5 | 3 | EBI-16431517, EBI-25840379 | |
BINARY | Q92834-6 | HOMEZ Q8IX15-3 | 3 | EBI-16431517, EBI-10172004 |
Protein-protein interaction databases
Miscellaneous
Structure
Family & Domains
Features
Showing features for repeat, compositional bias, region.
Type | ID | Position(s) | Description | |||
---|---|---|---|---|---|---|
Repeat | 54-105 | RCC1 1 | ||||
Sequence: NKLYMFGSNNWGQLGLGSKSAISKPTCVKALKPEKVKLAACGRNHTLVSTEG | ||||||
Repeat | 106-158 | RCC1 2 | ||||
Sequence: GNVYATGGNNEGQLGLGDTEERNTFHVISFFTSEHKIKQLSAGSNTSAALTED | ||||||
Repeat | 159-208 | RCC1 3 | ||||
Sequence: GRLFMWGDNSEGQIGLKNVSNVCVPQQVTIGKPVSWISCGYYHSAFVTTD | ||||||
Repeat | 209-261 | RCC1 4 | ||||
Sequence: GELYVFGEPENGKLGLPNQLLGNHRTPQLVSEIPEKVIQVACGGEHTVVLTEN | ||||||
Repeat | 262-313 | RCC1 5 | ||||
Sequence: AVYTFGLGQFGQLGLGTFLFETSEPKVIENIRDQTISYISCGENHTALITDI | ||||||
Repeat | 314-367 | RCC1 6 | ||||
Sequence: GLMYTFGDGRHGKLGLGLENFTNHFIPTLCSNFLRFIVKLVACGGCHMVVFAAP | ||||||
Compositional bias | 609-667 | Basic and acidic residues | ||||
Sequence: HENNNGVDQLDAKEIEKESDGGHSQKESEAEEIDSEKETKLAEIAGMKDLREREKSTKK | ||||||
Region | 609-776 | Disordered | ||||
Sequence: HENNNGVDQLDAKEIEKESDGGHSQKESEAEEIDSEKETKLAEIAGMKDLREREKSTKKMSPFFGNLPDRGMNTESEENKDFVKKRESCKQDVIFDSERESVEKPDSYMEGASESQQGIADGFQQPEAIEFSSGEKEDDEVETDQNIRYGRKLIEQGNEKETKPIISK | ||||||
Compositional bias | 681-715 | Basic and acidic residues | ||||
Sequence: NTESEENKDFVKKRESCKQDVIFDSERESVEKPDS | ||||||
Compositional bias | 749-776 | Basic and acidic residues | ||||
Sequence: VETDQNIRYGRKLIEQGNEKETKPIISK | ||||||
Compositional bias | 790-853 | Basic and acidic residues | ||||
Sequence: EIPEEKEGAEDSKGNGIEEQEVEANEENVKVHGGRKEKTEILSDDLTDKAEDHEFSKTEELKLE | ||||||
Region | 790-906 | Disordered | ||||
Sequence: EIPEEKEGAEDSKGNGIEEQEVEANEENVKVHGGRKEKTEILSDDLTDKAEDHEFSKTEELKLEDVDEEINAENVESKKKTVGDDESVPTGYHSKTEGAERTNDDSSAETIEKKEKA | ||||||
Compositional bias | 861-875 | Basic and acidic residues | ||||
Sequence: AENVESKKKTVGDDE | ||||||
Compositional bias | 886-906 | Basic and acidic residues | ||||
Sequence: EGAERTNDDSSAETIEKKEKA | ||||||
Region | 989-1020 | Disordered | ||||
Sequence: DNKDADQNHMSQNHQNIPPTNTERRSKSCTIL | ||||||
Compositional bias | 997-1020 | Polar residues | ||||
Sequence: HMSQNHQNIPPTNTERRSKSCTIL |
Domain
Keywords
- Domain
Phylogenomic databases
Family and domain databases
Sequence & Isoforms
- Sequence statusComplete
- Sequence processingThe displayed sequence is further processed into a mature form.
This entry describes 6 isoforms produced by Alternative splicing. Additional isoforms seem to exist.
Q92834-1
This isoform has been chosen as the canonical sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.
- Name1
- Length1,020
- Mass (Da)113,387
- Last updated2002-09-19 v2
- ChecksumEAB16275A9A436C3
Q92834-2
- Name2
- Differences from canonical
- 585-789: Missing
Q92834-3
- Name3
Q92834-4
- Name4
Q92834-5
- Name5
Q92834-6
- Name6
- SynonymsORF15
- Differences from canonical
- 585-1020: GNDTGQVGPQADTDGEGLQKEVYRHENNNGVDQLDAKEIEKESDGGHSQKESEAEEIDSEKETKLAEIAGMKDLREREKSTKKMSPFFGNLPDRGMNTESEENKDFVKKRESCKQDVIFDSERESVEKPDSYMEGASESQQGIADGFQQPEAIEFSSGEKEDDEVETDQNIRYGRKLIEQGNEKETKPIISKSMAKYDFKCDRLSEIPEEKEGAEDSKGNGIEEQEVEANEENVKVHGGRKEKTEILSDDLTDKAEDHEFSKTEELKLEDVDEEINAENVESKKKTVGDDESVPTGYHSKTEGAERTNDDSSAETIEKKEKANLEERAICEYNENPKGYMLDDADSSSLEILENSETTPSKDMKKTKKIFLFKRVPSINQKIVKNNNEPLPEIKSIGDQIILKSDNKDADQNHMSQNHQNIPPTNTERRSKSCTIL → EIPEEKEGAEDSKGNGIEEQEVEANEENVKVHGGRKEKTEILSDDLTDKAEVSEGKAKSVGEAEDGPEGRGDGTCEEGSSGAEHWQDEEREKGEKDKGRGEMERPGEGEKELAEKEEWKKRDGEEQEQKEREQGHQKERNQEMEEGGEEEHGEGEEEEGDREEEEEKEGEGKEEGEGEEVEGEREKEEGERKKEERAGKEEKGEEEGDQGEGEEEETEGRGEEKEEGGEVEGGEVEEGKGEREEEEEEGEGEEEEGEGEEEEGEGEEEEGEGKGEEEGEEGEGEEEGEEGEGEGEEEEGEGEGEEEGEGEGEEEEGEGEGEEEGEGEGEEEEGEGKGEEEGEEGEGEGEEEEGEGEGEDGEGEGEEEEGEWEGEEEEGEGEGEEEGEGEGEEGEGEGEEEEGEGEGEEEEGEEEGEEEGEGEEEGEGEGEEEEEGEVEGEVEGEEGEGEGEEEEGEEEGEEREKEGEGEENRRNREEEEEEEGKYQETGEEENERQDGEEYKKVSKIKGSVKYGKHKTYQKKSVTNTQGNGKEQRSKMPVQSKRLLKNGPSGSKKFWNNVLPHYLELK
Computationally mapped potential isoform sequences
There are 9 potential isoforms mapped to this entry
Entry | Entry name | Gene name | Length | ||
---|---|---|---|---|---|
A0A2R8Y838 | A0A2R8Y838_HUMAN | RPGR | 540 | ||
A0A2R8Y414 | A0A2R8Y414_HUMAN | RPGR | 673 | ||
A0A2R8Y4C9 | A0A2R8Y4C9_HUMAN | RPGR | 325 | ||
A0A2R8YGY6 | A0A2R8YGY6_HUMAN | RPGR | 379 | ||
A0A2R8YDN2 | A0A2R8YDN2_HUMAN | RPGR | 508 | ||
A0A2R8YFT6 | A0A2R8YFT6_HUMAN | RPGR | 642 | ||
A0A2R8YF02 | A0A2R8YF02_HUMAN | RPGR | 167 | ||
H7C4H4 | H7C4H4_HUMAN | RPGR | 415 | ||
H7C4L1 | H7C4L1_HUMAN | RPGR | 129 |
Features
Showing features for sequence conflict, alternative sequence, compositional bias.
Type | ID | Position(s) | Description | |||
---|---|---|---|---|---|---|
Sequence conflict | 1-3 | in Ref. 4; CAB54002 | ||||
Sequence: MRE → MAKLRRSTTTAL | ||||||
Sequence conflict | 190 | in Ref. 4; CAC86116 | ||||
Sequence: K → N | ||||||
Alternative sequence | VSP_005547 | 354-415 | in isoform 4 | |||
Sequence: Missing | ||||||
Alternative sequence | VSP_009183 | 473-480 | in isoform 5 | |||
Sequence: YLLDEMTK → THHEPEFQ | ||||||
Alternative sequence | VSP_009184 | 481-1020 | in isoform 5 | |||
Sequence: Missing | ||||||
Alternative sequence | VSP_005548 | 585-789 | in isoform 2, isoform 3 and isoform 4 | |||
Sequence: Missing | ||||||
Alternative sequence | VSP_044559 | 585-1020 | in isoform 6 | |||
Sequence: GNDTGQVGPQADTDGEGLQKEVYRHENNNGVDQLDAKEIEKESDGGHSQKESEAEEIDSEKETKLAEIAGMKDLREREKSTKKMSPFFGNLPDRGMNTESEENKDFVKKRESCKQDVIFDSERESVEKPDSYMEGASESQQGIADGFQQPEAIEFSSGEKEDDEVETDQNIRYGRKLIEQGNEKETKPIISKSMAKYDFKCDRLSEIPEEKEGAEDSKGNGIEEQEVEANEENVKVHGGRKEKTEILSDDLTDKAEDHEFSKTEELKLEDVDEEINAENVESKKKTVGDDESVPTGYHSKTEGAERTNDDSSAETIEKKEKANLEERAICEYNENPKGYMLDDADSSSLEILENSETTPSKDMKKTKKIFLFKRVPSINQKIVKNNNEPLPEIKSIGDQIILKSDNKDADQNHMSQNHQNIPPTNTERRSKSCTIL → EIPEEKEGAEDSKGNGIEEQEVEANEENVKVHGGRKEKTEILSDDLTDKAEVSEGKAKSVGEAEDGPEGRGDGTCEEGSSGAEHWQDEEREKGEKDKGRGEMERPGEGEKELAEKEEWKKRDGEEQEQKEREQGHQKERNQEMEEGGEEEHGEGEEEEGDREEEEEKEGEGKEEGEGEEVEGEREKEEGERKKEERAGKEEKGEEEGDQGEGEEEETEGRGEEKEEGGEVEGGEVEEGKGEREEEEEEGEGEEEEGEGEEEEGEGEEEEGEGKGEEEGEEGEGEEEGEEGEGEGEEEEGEGEGEEEGEGEGEEEEGEGEGEEEGEGEGEEEEGEGKGEEEGEEGEGEGEEEEGEGEGEDGEGEGEEEEGEWEGEEEEGEGEGEEEGEGEGEEGEGEGEEEEGEGEGEEEEGEEEGEEEGEGEEEGEGEGEEEEEGEVEGEVEGEEGEGEGEEEEGEEEGEEREKEGEGEENRRNREEEEEEEGKYQETGEEENERQDGEEYKKVSKIKGSVKYGKHKTYQKKSVTNTQGNGKEQRSKMPVQSKRLLKNGPSGSKKFWNNVLPHYLELK | ||||||
Compositional bias | 609-667 | Basic and acidic residues | ||||
Sequence: HENNNGVDQLDAKEIEKESDGGHSQKESEAEEIDSEKETKLAEIAGMKDLREREKSTKK | ||||||
Compositional bias | 681-715 | Basic and acidic residues | ||||
Sequence: NTESEENKDFVKKRESCKQDVIFDSERESVEKPDS | ||||||
Compositional bias | 749-776 | Basic and acidic residues | ||||
Sequence: VETDQNIRYGRKLIEQGNEKETKPIISK | ||||||
Compositional bias | 790-853 | Basic and acidic residues | ||||
Sequence: EIPEEKEGAEDSKGNGIEEQEVEANEENVKVHGGRKEKTEILSDDLTDKAEDHEFSKTEELKLE | ||||||
Alternative sequence | VSP_005549 | 841-851 | in isoform 3 | |||
Sequence: DHEFSKTEELK → YSASHSQIVSV | ||||||
Alternative sequence | VSP_005550 | 852-1020 | in isoform 3 | |||
Sequence: Missing | ||||||
Compositional bias | 861-875 | Basic and acidic residues | ||||
Sequence: AENVESKKKTVGDDE | ||||||
Compositional bias | 886-906 | Basic and acidic residues | ||||
Sequence: EGAERTNDDSSAETIEKKEKA | ||||||
Compositional bias | 997-1020 | Polar residues | ||||
Sequence: HMSQNHQNIPPTNTERRSKSCTIL | ||||||
Sequence conflict | 1144 | In isoform Q92834-6; in Ref. 17; DAA05713 | ||||
Sequence: V → I |
Keywords
- Coding sequence diversity
- Technical term
Sequence databases
Nucleotide Sequence | Protein Sequence | Molecule Type | Status | |
---|---|---|---|---|
U57629 EMBL· GenBank· DDBJ | AAC50481.1 EMBL· GenBank· DDBJ | mRNA | ||
X97668 EMBL· GenBank· DDBJ | CAA66258.1 EMBL· GenBank· DDBJ | mRNA | ||
AJ238395 EMBL· GenBank· DDBJ | CAB54002.1 EMBL· GenBank· DDBJ | mRNA | ||
AJ318463 EMBL· GenBank· DDBJ | CAC86116.1 EMBL· GenBank· DDBJ | Genomic DNA | ||
AL606748 EMBL· GenBank· DDBJ | - | Genomic DNA | No translation available. | |
CH471141 EMBL· GenBank· DDBJ | EAW59441.1 EMBL· GenBank· DDBJ | Genomic DNA | ||
BC031624 EMBL· GenBank· DDBJ | AAH31624.1 EMBL· GenBank· DDBJ | mRNA | ||
AF286471 EMBL· GenBank· DDBJ | AAG00550.1 EMBL· GenBank· DDBJ | Genomic DNA | ||
BK005711 EMBL· GenBank· DDBJ | DAA05713.1 EMBL· GenBank· DDBJ | mRNA |