Gene

KWMTBOMO16716

Pre Gene Modal

BGIBMGA012706

Annotation

PREDICTED:_X-linked_retinitis_pigmentosa_GTPase_regulator-like_isoform_X1_[Bombyx_mori]

Location

Bomo_Scaf125(-):5827-6615      View in EpiBrowser

Full name

X-linked retinitis pigmentosa GTPase regulator      

Location in the cell

Cytoplasmic   Reliability : 1.155 Extracellular   Reliability : 1.327

CDS

ATGCTTTCTTGGTACACAGAGAATGGTCGTGTGTTTGTGTTCGGAGCTAACACGTGGGGTCAGCTGGGCCTTGGTCATAAAGATGAGGTGACGCGGCCTAGTTGCGTGAAATGGCTCAAACCGCAGCGAACAATGTTCGTTGCGTGCGGACGAGCGCACACCGTTTTCGTTACAGAAACAAACGCTATATACACCGTGGGCTGCAACGATGAGGGGCAGCTCGGCACCGGCGATATGGAACACAGCACAGTTCCGCAAAGTGTCGAACTTGAGGAGCCCATAGTCGTGAAACAGATATCCGCTGGAAGCAACCACACGGCCTCTACTGACTGGTGGGTTTTTAATAAATGGCCTTGA

Protein

MLSWYTENGRVFVFGANTWGQLGLGHKDEVTRPSCVKWLKPQRTMFVACGRAHTVFVTETNAIYTVGCNDEGQLGTGDMEHSTVPQSVELEEPIVVKQISAGSNHTASTDWWVFNKWP

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.

Uniprot

H9JT44   A0A2H1WC78   A0A2A4IS99   A0A212EVX0   A0A194RC98   A0A194Q9G0   + More
A0A3M7QB88   A0A3Q0DC62   J9LVT1   E0VRW8   A0A1B6I6Y2   A0A2K6SWF2   T2M8L1   A0A288XNL1   F7HUY3   F7HPU0   A0A2K5Q3N4   A0A452HP38   A0A401SEP9   A0A2K6SWD8   A0A452SE01   A0A2K6SWE0   A0A452USK5   A0A2R8YF02   G1QE38   A0A2S2PJF8   A0A1A6GH73   A0A3B3I4M2   H9H3M2   A0A2T7P3P2   A0A2H8TMA0   A0A2K5Q3L8   A0A2U9AWV4   F7HQ01   Q9N1T2-4   K1R7W7   V4ABH9   J9NWI5   A0A1S3ISI4   A4IFG7   H9H3M4   Q9R0X5-4   A0A287B0E3   A0A3Q3T0Z9   A0A2K6JY34   A0A452FC00   W5NR37   A7RV05   A0A452FBH5   A0A452FBJ2   H2U0X2   A0A452FBY4   A0A452FBR8   A0A1S3MWL2   H9H3M5   A0A452FBC8   A0A195F4L4   A0A151I825   A0A3Q1MB28   A0A3Q1M850   A0A3S1A9L1   F1PJD5   A0A060YM70   A0A1S2ZR61   Q9R0X5-2   A0A091DZM2   B1WC72   A0A2K6C8Y9   Q9N1T2-3   L5K702   G1KQ66   Q9R0X5-3   A0A2K5IB17   A2ADP2   K7GPA6   A0A2K6C8Z9   A0A2K6C900   K7GLX7   A0A093CKY2   Q9N1T2-2   Q9R0X5   A0A195BIT5   F1PJD6   A0A1S3MSF2   Q9N1T2   H0W4R4   Q8CDM3   A0A1A7W9A0   A0A3Q3NL20   A0A2K5DFK3   A0A067XG46   A0A287A2E4   A0A3Q7TDX0   I3LIC5   A0A1S3MSA5   A0A452SDV8   F6UHX3   F1RXR0   A0A3Q3NCD1   F4WIN7  

Pubmed

19121390    22118469    26354079    30375419    20566863    24065732    + More
28876222    28562605    30297745    24813606    15772651    21993624    17554307    17431167    10699176    22992520    23254933    16341006    19393038    9677393    10401007    11702207    19468303    16141072    22323458    9990021    12140192    15772089    16043481    16632484    18579752    21183079    20007830    20805823    21546531    22563472    29899041    20809919    17615350    21551351    24755649    15489334    15057822    22673903    23258410    10349636    11042159    11076861    11217851    12466851    16141073    17495919    21719571   

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   

Proteomes

UP000005204    UP000218220    UP000007151    UP000053240    UP000053268    UP000276133    + More
UP000189704    UP000007819    UP000009046    UP000233220    UP000008225    UP000233040    UP000291020    UP000287033    UP000291022    UP000291021    UP000005640    UP000001074    UP000092124    UP000001038    UP000006718    UP000245119    UP000246464    UP000002254    UP000005408    UP000030746    UP000085678    UP000009136    UP000000589    UP000008227    UP000261640    UP000233180    UP000291000    UP000002356    UP000001593    UP000005226    UP000087266    UP000078541    UP000078542    UP000271974    UP000193380    UP000079721    UP000028990    UP000002494    UP000233120    UP000010552    UP000001646    UP000233080    UP000078540    UP000005447    UP000233020    UP000286640    UP000002280    UP000007755   

PRIDE

H9JT44    Q9R0X5    A2ADP2    K7GPA6    K7GLX7    A0A067XG46    + More
I3LIC5    F1RXR0   

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

2.130.10.30    

ProteinModelPortal

H9JT44   A0A2H1WC78   A0A2A4IS99   A0A212EVX0   A0A194RC98   A0A194Q9G0   + More
A0A3M7QB88   A0A3Q0DC62   J9LVT1   E0VRW8   A0A1B6I6Y2   A0A2K6SWF2   T2M8L1   A0A288XNL1   F7HUY3   F7HPU0   A0A2K5Q3N4   A0A452HP38   A0A401SEP9   A0A2K6SWD8   A0A452SE01   A0A2K6SWE0   A0A452USK5   A0A2R8YF02   G1QE38   A0A2S2PJF8   A0A1A6GH73   A0A3B3I4M2   H9H3M2   A0A2T7P3P2   A0A2H8TMA0   A0A2K5Q3L8   A0A2U9AWV4   F7HQ01   Q9N1T2-4   K1R7W7   V4ABH9   J9NWI5   A0A1S3ISI4   A4IFG7   H9H3M4   Q9R0X5-4   A0A287B0E3   A0A3Q3T0Z9   A0A2K6JY34   A0A452FC00   W5NR37   A7RV05   A0A452FBH5   A0A452FBJ2   H2U0X2   A0A452FBY4   A0A452FBR8   A0A1S3MWL2   H9H3M5   A0A452FBC8   A0A195F4L4   A0A151I825   A0A3Q1MB28   A0A3Q1M850   A0A3S1A9L1   F1PJD5   A0A060YM70   A0A1S2ZR61   Q9R0X5-2   A0A091DZM2   B1WC72   A0A2K6C8Y9   Q9N1T2-3   L5K702   G1KQ66   Q9R0X5-3   A0A2K5IB17   A2ADP2   K7GPA6   A0A2K6C8Z9   A0A2K6C900   K7GLX7   A0A093CKY2   Q9N1T2-2   Q9R0X5   A0A195BIT5   F1PJD6   A0A1S3MSF2   Q9N1T2   H0W4R4   Q8CDM3   A0A1A7W9A0   A0A3Q3NL20   A0A2K5DFK3   A0A067XG46   A0A287A2E4   A0A3Q7TDX0   I3LIC5   A0A1S3MSA5   A0A452SDV8   F6UHX3   F1RXR0   A0A3Q3NCD1   F4WIN7  

PDB

4JHN     E-value=3.5296e-22,     Score=252

KEGG

101742490    K19607 X-linked retinitis pigmentosa GTPase regulator | (RefSeq) X-linked retinitis pigmentosa GTPas

GO

GO:0005794   GO:0060271   GO:0005813   GO:0001750   GO:0007601   GO:0060287   GO:0046548   GO:0010842   GO:0004672   GO:0005524   GO:0042073   GO:0036064   GO:0005085   GO:0036126   GO:0050896   GO:0071482   GO:0005737   GO:0032391   GO:0042462   GO:0005929   GO:0042995   GO:0060042   GO:0043161  

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

 

 

Pi

0

Theta

0

Tajima's D

0

CLR

0

CSRT

0

Interpretation

Possibly Positive selection