SGID Silkworm Genome Informatics Database
Gene
KWMTBOMO16716
Pre Gene Modal
BGIBMGA012706
Annotation
PREDICTED:_X-linked_retinitis_pigmentosa_GTPase_regulator-like_isoform_X1_[Bombyx_mori]
Full name
X-linked retinitis pigmentosa GTPase regulator      
Location in the cell
Cytoplasmic   Reliability : 1.155 Extracellular   Reliability : 1.327
 

Sequence

CDS
ATGCTTTCTTGGTACACAGAGAATGGTCGTGTGTTTGTGTTCGGAGCTAACACGTGGGGTCAGCTGGGCCTTGGTCATAAAGATGAGGTGACGCGGCCTAGTTGCGTGAAATGGCTCAAACCGCAGCGAACAATGTTCGTTGCGTGCGGACGAGCGCACACCGTTTTCGTTACAGAAACAAACGCTATATACACCGTGGGCTGCAACGATGAGGGGCAGCTCGGCACCGGCGATATGGAACACAGCACAGTTCCGCAAAGTGTCGAACTTGAGGAGCCCATAGTCGTGAAACAGATATCCGCTGGAAGCAACCACACGGCCTCTACTGACTGGTGGGTTTTTAATAAATGGCCTTGA
Protein
MLSWYTENGRVFVFGANTWGQLGLGHKDEVTRPSCVKWLKPQRTMFVACGRAHTVFVTETNAIYTVGCNDEGQLGTGDMEHSTVPQSVELEEPIVVKQISAGSNHTASTDWWVFNKWP

Summary

Description
Could be a guanine-nucleotide releasing factor. Plays a role in ciliogenesis. Probably regulates cilia formation by regulating actin stress filaments and cell contractility. May be involved in microtubule organization and regulation of transport in primary cilia. Plays an important role in photoreceptor integrity. May play a critical role in spermatogenesis and in intraflagellar transport processes.
Could be a guanine-nucleotide releasing factor (By similarity). Plays a role in ciliogenesis (By similarity). Probably regulates cilia formation by regulating actin stress filaments and cell contractility (By similarity). May be involved in microtubule organization and regulation of transport in primary cilia (By similarity). Plays an important role in photoreceptor integrity. Isoform 5 may play a critical role in spermatogenesis and in intraflagellar transport processes.
Subunit
Interacts with PDE6D (By similarity). Interacts with RPGRIP1 (By similarity). Interacts with RPGRIP1L (By similarity). PDE6D, RPGRIP1 and RPGRIP1L may compete for the same binding sites (By similarity). Interacts with NPM1 (By similarity). Interacts with SMC1A and SMC3 (By similarity). Interacts with CEP290 (By similarity). Interacts with WHRN (By similarity). Interacts with SPATA7 (By similarity).
Interacts with SPATA7 (PubMed:29899041). Interacts with PDE6D (PubMed:9990021). Interacts with RPGRIP1 and RPGRIP1L; PDE6D, RPGRIP1 and RPGRIP1L may compete for the same binding sites (By similarity). Interacts with NPM1 (By similarity). Interacts with PDE6D. Isoform 5 interacts (via N-terminus) with SMC1A and SMC3 (PubMed:16043481). Isoform 5 interacts with CEP290 (PubMed:16632484). Interacts with WHRN (PubMed:22323458).
Miscellaneous
Male transgenic mice carrying multiple copies of the Rpgr transgene are infertile showing normal mating but no progeny; these mice also exhibit reduced sperm numbers as well as morphological and functional defects in the sperm flagellum.
Male BL/6 and BALB/c transgenic mice with an in-frame deletion of exon 4 of Rpgr show retinal degeneration that is rod or cone dominated, respectively.
Overexpression of isoform 1 results in atypical accumulation of Rpgr in photoreceptor outer segments, abnormal photoreceptor morphology and severe retinal degeneration.
In a mouse model of X-linked retinosa pigmentosa, where a 32bp duplication leads to a frameshift in the reading frame and a premature stop codon in isoform 5 (ORF15), mice exhibited retinal pathology including pigment loss and a slow progressive decrease in outer nuclear layer thickness.
Keywords
Alternative splicing   Cell projection   Cilium   Complete proteome   Cytoplasm   Cytoskeleton   Flagellum   Golgi apparatus   Guanine-nucleotide releasing factor   Lipoprotein   Methylation   Phosphoprotein   Prenylation   Reference proteome   Repeat   Retinitis pigmentosa   Sensory transduction   Vision  
Feature
chain  X-linked retinitis pigmentosa GTPase regulator
propeptide  Removed in mature form
splice variant  In isoform 4.
EMBL
BABH01030746    ODYU01007675    SOQ50670.1    NWSH01007691    PCG62867.1    AGBW02012108    + More
OWR45633.1    KQ460416    KPJ14905.1    KQ459324    KPJ01630.1    REGN01006693    RNA08583.1    ABLF02023062    DS235577    EEB16124.1    GECU01029943    GECU01025056    JAS77763.1    JAS82650.1    HAAD01002080    CDG68312.1    MF133509    ASM47589.1    BEZZ01000223    GCC28861.1    AL606748    AAPE02021524    AAPE02021525    AAPE02021526    AAPE02021527    GGMR01016954    MBY29573.1    LZPO01089909    OBS65623.1    JSUE03045294    JSUE03045295    JSUE03045296    PZQS01000006    PVD28047.1    GFXV01003450    MBW15255.1    CP026243    AWO96100.1    AF148798    AF148799    AF148800    AF148801    JH816099    EKC37295.1    KB201847    ESO94172.1    AAEX03026277    AAEX03026278    BC134574    AAI34575.1    AF044677    AJ238396    AJ318464    AL671042    AK017192    BX005236    HQ260316    AEMK02000113    AMGL01114732    AMGL01114733    DS469542    EDO44704.1    KQ981820    KYN35326.1    KQ978390    KYM94286.1    RQTK01000148    RUS86178.1    FR913846    CDQ92781.1    KN122777    KFO28246.1    AABR07037142    AABR07037143    AABR07037144    BC162028    AAI62028.1    KB030981    ELK07147.1    KL248702    KFV16530.1    KQ976465    KYM84321.1    AAKN02033871    AAKN02033872    AAKN02033873    AK029864    BAC26649.1    HADW01000696    SBP02096.1    GL888176    EGI65973.1   
Pfam
PF00415   RCC1        + More
PF07714   Pkinase_Tyr
Interpro
IPR009091   RCC1/BLIP-II        + More
IPR000408   Reg_chr_condens       
IPR011009   Kinase-like_dom_sf       
IPR001245   Ser-Thr/Tyr_kinase_cat_dom       
IPR000719   Prot_kinase_dom       
SUPFAM
SSF50985   SSF50985        + More
SSF56112   SSF56112       
Gene 3D
PDB
4JHN     E-value=3.5296e-22,     Score=252

Ontologies

Topology

Subcellular location
Golgi apparatus   In the retinal photoreceptor cell layer, localizes at the connecting cilium (By similarity). 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).   With evidence from 3 publications.
Cytoplasm   In the retinal photoreceptor cell layer, localizes at the connecting cilium (By similarity). 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).   With evidence from 3 publications.
Cytoskeleton   In the retinal photoreceptor cell layer, localizes at the connecting cilium (By similarity). 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).   With evidence from 3 publications.
Cilium basal body   In the retinal photoreceptor cell layer, localizes at the connecting cilium (By similarity). 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).   With evidence from 3 publications.
Microtubule organizing center   In the retinal photoreceptor cell layer, localizes at the connecting cilium (By similarity). 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).   With evidence from 3 publications.
Centrosome   In the retinal photoreceptor cell layer, localizes at the connecting cilium (By similarity). 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).   With evidence from 3 publications.
Cilium axoneme   In the retinal photoreceptor cell layer, localizes at the connecting cilium (By similarity). 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).   With evidence from 3 publications.
Flagellum axoneme   In the retinal photoreceptor cell layer, localizes at the connecting cilium (By similarity). 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).   With evidence from 3 publications.
Cell projection   In the retinal photoreceptor cell layer, localizes at the connecting cilium (PubMed:29899041). Colocalizes with WHRN in the photoreceptor connecting cilium (PubMed:22323458). Colocalizes with CEP290 in the photoreceptor connecting cilium (PubMed:16632484). Colocalizes with RPGRIP1 in the photoreceptor connecting cilium (PubMed:15772089).   With evidence from 6 publications.
Cilium   In the retinal photoreceptor cell layer, localizes at the connecting cilium (PubMed:29899041). Colocalizes with WHRN in the photoreceptor connecting cilium (PubMed:22323458). Colocalizes with CEP290 in the photoreceptor connecting cilium (PubMed:16632484). Colocalizes with RPGRIP1 in the photoreceptor connecting cilium (PubMed:15772089).   With evidence from 6 publications.
Length:
118
Number of predicted TMHs:
0
Exp number of AAs in TMHs:
0.03012
Exp number, first 60 AAs:
0.02228
Total prob of N-in:
0.27683
outside
1  -  118
 
 

Population Genetic Test Statistics

Pi
0
Theta
0
Tajima's D
0
CLR
0
CSRT
0
Interpretation
Possibly Positive selection

Multiple alignment of Orthologues

 
 

Gene Tree

 
 
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