UniProtKB - Q96KN7 (RPGR1_HUMAN)
X-linked retinitis pigmentosa GTPase regulator-interacting protein 1
RPGRIP1
Functioni
GO - Biological processi
- neural precursor cell proliferation Source: Ensembl
- non-motile cilium assembly Source: GO_Central
- response to stimulus Source: UniProtKB-KW
- retinal rod cell development Source: GO_Central
- visual perception Source: UniProtKB-KW
Keywordsi
Biological process | Sensory transduction, Vision |
Enzyme and pathway databases
PathwayCommonsi | Q96KN7 |
SIGNORi | Q96KN7 |
Names & Taxonomyi
Protein namesi | Recommended name: X-linked retinitis pigmentosa GTPase regulator-interacting protein 1Short name: RPGR-interacting protein 1 |
Gene namesi | Name:RPGRIP1 |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
HGNCi | HGNC:13436, RPGRIP1 |
MIMi | 605446, gene |
neXtProti | NX_Q96KN7 |
VEuPathDBi | HostDB:ENSG00000092200.12 |
Subcellular locationi
Other locations
- cilium 1 Publication
Note: Situated between the axonemal microtubules and the plasma membrane (By similarity). In the retinal photoreceptor cell layer, localizes at the connecting cilium, a thin bridge linking the cell body and the light-sensing outer segment (By similarity). Colocalizes with RGPR in the photoreceptor connecting cilium (By similarity).By similarity
Cytoskeleton
- axoneme Source: Ensembl
Other locations
- ciliary transition zone Source: GO_Central
- photoreceptor connecting cilium Source: UniProtKB
- photoreceptor distal connecting cilium Source: Ensembl
Keywords - Cellular componenti
Cell projection, CiliumPathology & Biotechi
Involvement in diseasei
Leber congenital amaurosis 6 (LCA6)5 Publications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_067186 | 631 | H → P in LCA6. 1 Publication | 1 | |
Natural variantiVAR_017833 | 746 | G → E in LCA6. 1 PublicationCorresponds to variant dbSNP:rs61751268EnsemblClinVar. | 1 | |
Natural variantiVAR_017836 | 1114 | D → G in LCA6; no effect on interaction with RPGR. 2 PublicationsCorresponds to variant dbSNP:rs17103671EnsemblClinVar. | 1 | |
Natural variantiVAR_076823 | 1211 | V → E in LCA6. 2 Publications | 1 |
Cone-rod dystrophy 13 (CORD13)2 Publications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_017831 | 547 | A → S in CORD13. 2 PublicationsCorresponds to variant dbSNP:rs10151259EnsemblClinVar. | 1 | |
Natural variantiVAR_017834 | 827 | R → L in CORD13. 1 PublicationCorresponds to variant dbSNP:rs28937883EnsemblClinVar. | 1 |
Mutagenesis
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Mutagenesisi | 1121 | E → A: Nearly abolishes interaction with RPGR; when associated with A-1174 and A-1245. 1 Publication | 1 | |
Mutagenesisi | 1121 | E → K: Decreases interaction with RPGR. 1 Publication | 1 | |
Mutagenesisi | 1174 | H → A: Nearly abolishes interaction with RPGR; when associated with A-1121 and A-1245. 1 Publication | 1 | |
Mutagenesisi | 1174 | H → D: Abolishes interaction with RPGR. 1 Publication | 1 | |
Mutagenesisi | 1245 | E → A: Nearly abolishes interaction with RPGR; when associated with A-1121 and A-1174. 1 Publication | 1 | |
Mutagenesisi | 1245 | E → K: No effect on interaction with RPGR. 1 Publication | 1 |
Keywords - Diseasei
Ciliopathy, Cone-rod dystrophy, Disease variant, Glaucoma, Leber congenital amaurosisOrganism-specific databases
DisGeNETi | 57096 |
MalaCardsi | RPGRIP1 |
MIMi | 608194, phenotype 613826, phenotype |
OpenTargetsi | ENSG00000092200 |
Orphaneti | 1872, Cone rod dystrophy 65, Leber congenital amaurosis 564, Meckel syndrome |
PharmGKBi | PA34657 |
Miscellaneous databases
Pharosi | Q96KN7, Tbio |
Genetic variation databases
BioMutai | RPGRIP1 |
DMDMi | 296452882 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
ChainiPRO_0000097432 | 1 – 1286 | X-linked retinitis pigmentosa GTPase regulator-interacting protein 1Add BLAST | 1286 |
Proteomic databases
jPOSTi | Q96KN7 |
MassIVEi | Q96KN7 |
MaxQBi | Q96KN7 |
PaxDbi | Q96KN7 |
PeptideAtlasi | Q96KN7 |
PRIDEi | Q96KN7 |
ProteomicsDBi | 77089 [Q96KN7-1] 77090 [Q96KN7-2] 77091 [Q96KN7-3] 77092 [Q96KN7-4] 77093 [Q96KN7-5] 77094 [Q96KN7-6] |
PTM databases
iPTMneti | Q96KN7 |
PhosphoSitePlusi | Q96KN7 |
Expressioni
Tissue specificityi
Gene expression databases
Bgeei | ENSG00000092200, Expressed in testis and 120 other tissues |
ExpressionAtlasi | Q96KN7, baseline and differential |
Genevisiblei | Q96KN7, HS |
Organism-specific databases
HPAi | ENSG00000092200, Group enriched (blood, testis) |
Interactioni
Subunit structurei
Forms homodimers and elongated homopolymers (By similarity).
Interacts with RPGR (PubMed:10958648, PubMed:10958647, PubMed:24981858).
Interacts with NPHP4 (PubMed:16339905, PubMed:21224891).
Interacts with NEK4 (PubMed:21685204).
Interacts with SPATA7 (PubMed:25398945).
Interacts with CEP290/NPHP6; mediating the association between RPGR and CEP290/NPHP6 (PubMed:20200501).
By similarity8 PublicationsBinary interactionsi
Hide detailsQ96KN7
Isoform 1 [Q96KN7-1]
With | #Exp. | IntAct |
---|---|---|
NPHP4 - isoform 1 [O75161-1] | 9 | EBI-12499377,EBI-12499345 |
Isoform 4 [Q96KN7-4]
With | #Exp. | IntAct |
---|---|---|
RNF6 [A0A0S2Z4G9] | 3 | EBI-11525164,EBI-16428950 |
RPGR [Q92834] | 3 | EBI-11525164,EBI-6558417 |
TRIB3 [Q96RU7] | 3 | EBI-11525164,EBI-492476 |
ZNF688 [A0A0S2Z5X4] | 3 | EBI-11525164,EBI-16429014 |
Protein-protein interaction databases
BioGRIDi | 121364, 67 interactors |
CORUMi | Q96KN7 |
IntActi | Q96KN7, 62 interactors |
STRINGi | 9606.ENSP00000382895 |
Miscellaneous databases
RNActi | Q96KN7, protein |
Structurei
Secondary structure
3D structure databases
SMRi | Q96KN7 |
ModBasei | Search... |
PDBe-KBi | Search... |
Family & Domainsi
Domains and Repeats
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Domaini | 781 – 906 | C2PROSITE-ProRule annotationAdd BLAST | 126 |
Region
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Regioni | 1091 – 1281 | Interaction with RPGR1 PublicationAdd BLAST | 191 |
Coiled coil
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Coiled coili | 294 – 584 | Sequence analysisAdd BLAST | 291 |
Domaini
Sequence similaritiesi
Keywords - Domaini
Coiled coilPhylogenomic databases
eggNOGi | ENOG502R3GU, Eukaryota |
GeneTreei | ENSGT00520000055620 |
HOGENOMi | CLU_468463_0_0_1 |
InParanoidi | Q96KN7 |
OMAi | NTLAAGW |
OrthoDBi | 152378at2759 |
PhylomeDBi | Q96KN7 |
TreeFami | TF328883 |
Family and domain databases
Gene3Di | 2.60.40.150, 3 hits |
InterProi | View protein in InterPro IPR021656, C2-C2_1 IPR000008, C2_dom IPR035892, C2_domain_sf IPR031134, RPGRIP1 IPR041091, RPGRIP1_C IPR031139, RPGRIP1_fam |
PANTHERi | PTHR14240, PTHR14240, 1 hit PTHR14240:SF3, PTHR14240:SF3, 1 hit |
Pfami | View protein in Pfam PF00168, C2, 1 hit PF11618, C2-C2_1, 1 hit PF18111, RPGR1_C, 1 hit |
PROSITEi | View protein in PROSITE PS50004, C2, 1 hit |
s (6+)i Sequence
Sequence statusi: Complete.
This entry describes 6 produced by isoformsialternative splicing. AlignAdd to basketThis entry has 6 described isoforms and 8 potential isoforms that are computationally mapped.Show allAlign All
This isoform has been chosen as the sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry. canonicali
10 20 30 40 50
MSHLVDPTSG DLPVRDIDAI PLVLPASKGK NMKTQPPLSR MNREELEDSF
60 70 80 90 100
FRLREDHMLV KELSWKQQDE IKRLRTTLLR LTAAGRDLRV AEEAAPLSET
110 120 130 140 150
ARRGQKAGWR QRLSMHQRPQ MHRLQGHFHC VGPASPRRAQ PRVQVGHRQL
160 170 180 190 200
HTAGAPVPEK PKRGPRDRLS YTAPPSFKEH ATNENRGEVA SKPSELVSGS
210 220 230 240 250
NSIISFSSVI SMAKPIGLCM PNSAHIMASN TMQVEEPPKS PEKMWPKDEN
260 270 280 290 300
FEQRSSLECA QKAAELRASI KEKVELIRLK KLLHERNASL VMTKAQLTEV
310 320 330 340 350
QEAYETLLQK NQGILSAAHE ALLKQVNELR AELKEESKKA VSLKSQLEDV
360 370 380 390 400
SILQMTLKEF QERVEDLEKE RKLLNDNYDK LLESMLDSSD SSSQPHWSNE
410 420 430 440 450
LIAEQLQQQV SQLQDQLDAE LEDKRKVLLE LSREKAQNED LKLEVTNILQ
460 470 480 490 500
KHKQEVELLQ NAATISQPPD RQSEPATHPA VLQENTQIEP SEPKNQEEKK
510 520 530 540 550
LSQVLNELQV SHAETTLELE KTRDMLILQR KINVCYQEEL EAMMTKADND
560 570 580 590 600
NRDHKEKLER LTRLLDLKNN RIKQLEGILR SHDLPTSEQL KDVAYGTRPL
610 620 630 640 650
SLCLETLPAH GDEDKVDISL LHQGENLFEL HIHQAFLTSA ALAQAGDTQP
660 670 680 690 700
TTFCTYSFYD FETHCTPLSV GPQPLYDFTS QYVMETDSLF LHYLQEASAR
710 720 730 740 750
LDIHQAMASE HSTLAAGWIC FDRVLETVEK VHGLATLIGA GGEEFGVLEY
760 770 780 790 800
WMRLRFPIKP SLQACNKRKK AQVYLSTDVL GGRKAQEEEF RSESWEPQNE
810 820 830 840 850
LWIEITKCCG LRSRWLGTQP SPYAVYRFFT FSDHDTAIIP ASNNPYFRDQ
860 870 880 890 900
ARFPVLVTSD LDHYLRREAL SIHVFDDEDL EPGSYLGRAR VPLLPLAKNE
910 920 930 940 950
SIKGDFNLTD PAEKPNGSIQ VQLDWKFPYI PPESFLKPEA QTKGKDTKDS
960 970 980 990 1000
SKISSEEEKA SFPSQDQMAS PEVPIEAGQY RSKRKPPHGG ERKEKEHQVV
1010 1020 1030 1040 1050
SYSRRKHGKR IGVQGKNRME YLSLNILNGN TPEQVNYTEW KFSETNSFIG
1060 1070 1080 1090 1100
DGFKNQHEEE EMTLSHSALK QKEPLHPVND KESSEQGSEV SEAQTTDSDD
1110 1120 1130 1140 1150
VIVPPMSQKY PKADSEKMCI EIVSLAFYPE AEVMSDENIK QVYVEYKFYD
1160 1170 1180 1190 1200
LPLSETETPV SLRKPRAGEE IHFHFSKVID LDPQEQQGRR RFLFDMLNGQ
1210 1220 1230 1240 1250
DPDQGHLKFT VVSDPLDEEK KECEEVGYAY LQLWQILESG RDILEQELDI
1260 1270 1280
VSPEDLATPI GRLKVSLQAA AVLHAIYKEM TEDLFS
Computationally mapped potential isoform sequencesi
There are 8 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basketG3V3F7 | G3V3F7_HUMAN | X-linked retinitis pigmentosa GTPas... | RPGRIP1 | 1,248 | Annotation score: | ||
G3V3I7 | G3V3I7_HUMAN | X-linked retinitis pigmentosa GTPas... | RPGRIP1 | 761 | Annotation score: | ||
G3V577 | G3V577_HUMAN | X-linked retinitis pigmentosa GTPas... | RPGRIP1 | 166 | Annotation score: | ||
G3V236 | G3V236_HUMAN | X-linked retinitis pigmentosa GTPas... | RPGRIP1 | 943 | Annotation score: | ||
H0YIY1 | H0YIY1_HUMAN | X-linked retinitis pigmentosa GTPas... | RPGRIP1 | 143 | Annotation score: | ||
H0YJK6 | H0YJK6_HUMAN | X-linked retinitis pigmentosa GTPas... | RPGRIP1 | 134 | Annotation score: | ||
H0YJ18 | H0YJ18_HUMAN | X-linked retinitis pigmentosa GTPas... | RPGRIP1 | 26 | Annotation score: | ||
H0YJ99 | H0YJ99_HUMAN | X-linked retinitis pigmentosa GTPas... | RPGRIP1 | 59 | Annotation score: |
Sequence cautioni
Experimental Info
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Sequence conflicti | 539 | Missing in AAG10246 (PubMed:10958648).Curated | 1 | |
Sequence conflicti | 554 – 555 | HK → SQR in AAG10246 (PubMed:10958648).Curated | 2 | |
Sequence conflicti | 611 | G → R in CAE11866 (PubMed:17974005).Curated | 1 | |
Sequence conflicti | 1159 | P → L in CAE11866 (PubMed:17974005).Curated | 1 |
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_065720 | 32 | M → L1 Publication | 1 | |
Natural variantiVAR_057772 | 96 | P → Q1 PublicationCorresponds to variant dbSNP:rs1040904EnsemblClinVar. | 1 | |
Natural variantiVAR_065721 | 135 | S → R1 Publication | 1 | |
Natural variantiVAR_017830 | 192 | K → E1 PublicationCorresponds to variant dbSNP:rs6571751EnsemblClinVar. | 1 | |
Natural variantiVAR_065722 | 318 | A → V in a patient with primary open angle glaucoma. 1 PublicationCorresponds to variant dbSNP:rs1325466987Ensembl. | 1 | |
Natural variantiVAR_065723 | 363 | R → T in a patient with normal tension glaucoma. 1 Publication | 1 | |
Natural variantiVAR_067184 | 432 | S → F Found in a patient with LCA6. 1 PublicationCorresponds to variant dbSNP:rs190985984EnsemblClinVar. | 1 | |
Natural variantiVAR_017831 | 547 | A → S in CORD13. 2 PublicationsCorresponds to variant dbSNP:rs10151259EnsemblClinVar. | 1 | |
Natural variantiVAR_065724 | 585 | P → S1 PublicationCorresponds to variant dbSNP:rs147586703EnsemblClinVar. | 1 | |
Natural variantiVAR_065725 | 589 | Q → H Does not affect the interaction with NPHP4. 1 PublicationCorresponds to variant dbSNP:rs34067949EnsemblClinVar. | 1 | |
Natural variantiVAR_065726 | 598 | R → Q Found in patients with primary open angle glaucoma and juvenile open angle glaucoma; affects the interaction with NPHP4. 1 PublicationCorresponds to variant dbSNP:rs74034910EnsemblClinVar. | 1 | |
Natural variantiVAR_017832 | 601 | S → L. Corresponds to variant dbSNP:rs3748360Ensembl. | 1 | |
Natural variantiVAR_067185 | 601 | S → W Found in a patient with LCA6. 1 PublicationCorresponds to variant dbSNP:rs3748360Ensembl. | 1 | |
Natural variantiVAR_065727 | 603 | C → S1 Publication | 1 | |
Natural variantiVAR_067186 | 631 | H → P in LCA6. 1 Publication | 1 | |
Natural variantiVAR_065728 | 635 | A → G in a patient with normal tension glaucoma and a patient with primary open angle glaucoma; affects the interaction with NPHP4. 1 PublicationCorresponds to variant dbSNP:rs200325360EnsemblClinVar. | 1 | |
Natural variantiVAR_065729 | 638 | T → I1 PublicationCorresponds to variant dbSNP:rs1010290273Ensembl. | 1 | |
Natural variantiVAR_017833 | 746 | G → E in LCA6. 1 PublicationCorresponds to variant dbSNP:rs61751268EnsemblClinVar. | 1 | |
Natural variantiVAR_065730 | 764 | A → V Does not affect the interaction with NPHP4. 1 PublicationCorresponds to variant dbSNP:rs758652031Ensembl. | 1 | |
Natural variantiVAR_065731 | 806 | T → I in a patient with primary open angle glaucoma who also carries variant K-352 in MYOC; affects the interaction with NPHP4. 1 PublicationCorresponds to variant dbSNP:rs142796310EnsemblClinVar. | 1 | |
Natural variantiVAR_065732 | 812 | R → H Does not affect the interaction with NPHP4. 1 Publication | 1 | |
Natural variantiVAR_065733 | 814 | R → L1 PublicationCorresponds to variant dbSNP:rs372647080Ensembl. | 1 | |
Natural variantiVAR_017834 | 827 | R → L in CORD13. 1 PublicationCorresponds to variant dbSNP:rs28937883EnsemblClinVar. | 1 | |
Natural variantiVAR_065734 | 837 | A → G in a patient with primary open angle glaucoma and a patient with juvenile open angle glaucoma; affects the interaction with NPHP4. 1 PublicationCorresponds to variant dbSNP:rs373515194Ensembl. | 1 | |
Natural variantiVAR_065735 | 838 | I → V in a patient with normal tension glaucoma and a patient with primary open angle glaucoma; affects the interaction with NPHP4. 1 PublicationCorresponds to variant dbSNP:rs772480252Ensembl. | 1 | |
Natural variantiVAR_065736 | 841 | A → T1 Publication | 1 | |
Natural variantiVAR_065737 | 852 | R → Q1 PublicationCorresponds to variant dbSNP:rs181758389EnsemblClinVar. | 1 | |
Natural variantiVAR_076792 | 876 | D → G Impairs interaction with NPHP4. 1 PublicationCorresponds to variant dbSNP:rs61751274EnsemblClinVar. | 1 | |
Natural variantiVAR_065738 | 883 | G → D1 Publication | 1 | |
Natural variantiVAR_057773 | 960 | A → P. Corresponds to variant dbSNP:rs35810926EnsemblClinVar. | 1 | |
Natural variantiVAR_017835 | 1033 | E → Q4 PublicationsCorresponds to variant dbSNP:rs3748361EnsemblClinVar. | 1 | |
Natural variantiVAR_067187 | 1057 | H → L Found in a patient associated with LCA6. 1 PublicationCorresponds to variant dbSNP:rs201521970Ensembl. | 1 | |
Natural variantiVAR_017836 | 1114 | D → G in LCA6; no effect on interaction with RPGR. 2 PublicationsCorresponds to variant dbSNP:rs17103671EnsemblClinVar. | 1 | |
Natural variantiVAR_067188 | 1130 | E → Q Found in a patient with LCA6. 1 Publication | 1 | |
Natural variantiVAR_076823 | 1211 | V → E in LCA6. 2 Publications | 1 | |
Natural variantiVAR_057774 | 1240 | G → E. Corresponds to variant dbSNP:rs34725281EnsemblClinVar. | 1 |
Alternative sequence
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Alternative sequenceiVSP_009522 | 1 – 641 | Missing in isoform 3. 1 PublicationAdd BLAST | 641 | |
Alternative sequenceiVSP_009521 | 1 – 617 | Missing in isoform 2. 1 PublicationAdd BLAST | 617 | |
Alternative sequenceiVSP_009520 | 1 – 384 | Missing in isoform 5 and isoform 6. 1 PublicationAdd BLAST | 384 | |
Alternative sequenceiVSP_009519 | 1 – 358 | Missing in isoform 4. 1 PublicationAdd BLAST | 358 | |
Alternative sequenceiVSP_009523 | 359 – 383 | EFQER…DKLLE → MLKLDNKDVISHPLGYPSES LLSIA in isoform 4. 1 PublicationAdd BLAST | 25 | |
Alternative sequenceiVSP_009524 | 588 – 903 | Missing in isoform 4. 1 PublicationAdd BLAST | 316 | |
Alternative sequenceiVSP_009525 | 618 – 623 | ISLLHQ → MTFQHL in isoform 2. 1 Publication | 6 | |
Alternative sequenceiVSP_009526 | 642 – 673 | LAQAG…SVGPQ → MLLMAPDRCRYVWKHCQPME MRIKWIFLCCIR in isoform 3. 1 PublicationAdd BLAST | 32 | |
Alternative sequenceiVSP_009527 | 966 – 1286 | Missing in isoform 6. 1 PublicationAdd BLAST | 321 |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AF227257 mRNA Translation: AAG10246.1 AF265666 mRNA Translation: AAG10000.1 AF265667 mRNA Translation: AAG10001.1 AF260257 mRNA Translation: AAF91371.1 AJ417048 , AJ417049, AJ417050, AJ417051, AJ417052, AJ417053, AJ417054, AJ417055, AJ417056, AJ417057, AJ417058, AJ417059, AJ417060, AJ417061, AJ417062, AJ417063, AJ417064, AJ417065, AJ417066 Genomic DNA Translation: CAD01136.1 AJ417067 mRNA Translation: CAD01135.1 AL135744 Genomic DNA No translation available. BC039089 mRNA Translation: AAH39089.1 BX571740 mRNA Translation: CAE11866.1 Different initiation. |
CCDSi | CCDS45080.1 [Q96KN7-1] |
RefSeqi | NP_065099.3, NM_020366.3 [Q96KN7-1] |
Genome annotation databases
Ensembli | ENST00000382933; ENSP00000372391; ENSG00000092200 [Q96KN7-4] ENST00000400017; ENSP00000382895; ENSG00000092200 [Q96KN7-1] |
GeneIDi | 57096 |
KEGGi | hsa:57096 |
UCSCi | uc001wag.4, human [Q96KN7-1] |
Keywords - Coding sequence diversityi
Alternative splicingSimilar proteinsi
Cross-referencesi
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AF227257 mRNA Translation: AAG10246.1 AF265666 mRNA Translation: AAG10000.1 AF265667 mRNA Translation: AAG10001.1 AF260257 mRNA Translation: AAF91371.1 AJ417048 , AJ417049, AJ417050, AJ417051, AJ417052, AJ417053, AJ417054, AJ417055, AJ417056, AJ417057, AJ417058, AJ417059, AJ417060, AJ417061, AJ417062, AJ417063, AJ417064, AJ417065, AJ417066 Genomic DNA Translation: CAD01136.1 AJ417067 mRNA Translation: CAD01135.1 AL135744 Genomic DNA No translation available. BC039089 mRNA Translation: AAH39089.1 BX571740 mRNA Translation: CAE11866.1 Different initiation. |
CCDSi | CCDS45080.1 [Q96KN7-1] |
RefSeqi | NP_065099.3, NM_020366.3 [Q96KN7-1] |
3D structure databases
Select the link destinations: PDBei RCSB PDBi PDBji Links Updated | PDB entry | Method | Resolution (Å) | Chain | Positions | PDBsum |
4QAM | X-ray | 1.83 | B | 1091-1286 | [»] | |
SMRi | Q96KN7 | |||||
ModBasei | Search... | |||||
PDBe-KBi | Search... |
Protein-protein interaction databases
BioGRIDi | 121364, 67 interactors |
CORUMi | Q96KN7 |
IntActi | Q96KN7, 62 interactors |
STRINGi | 9606.ENSP00000382895 |
PTM databases
iPTMneti | Q96KN7 |
PhosphoSitePlusi | Q96KN7 |
Genetic variation databases
BioMutai | RPGRIP1 |
DMDMi | 296452882 |
Proteomic databases
jPOSTi | Q96KN7 |
MassIVEi | Q96KN7 |
MaxQBi | Q96KN7 |
PaxDbi | Q96KN7 |
PeptideAtlasi | Q96KN7 |
PRIDEi | Q96KN7 |
ProteomicsDBi | 77089 [Q96KN7-1] 77090 [Q96KN7-2] 77091 [Q96KN7-3] 77092 [Q96KN7-4] 77093 [Q96KN7-5] 77094 [Q96KN7-6] |
Protocols and materials databases
Antibodypediai | 47230, 97 antibodies |
DNASUi | 57096 |
Genome annotation databases
Ensembli | ENST00000382933; ENSP00000372391; ENSG00000092200 [Q96KN7-4] ENST00000400017; ENSP00000382895; ENSG00000092200 [Q96KN7-1] |
GeneIDi | 57096 |
KEGGi | hsa:57096 |
UCSCi | uc001wag.4, human [Q96KN7-1] |
Organism-specific databases
CTDi | 57096 |
DisGeNETi | 57096 |
GeneCardsi | RPGRIP1 |
HGNCi | HGNC:13436, RPGRIP1 |
HPAi | ENSG00000092200, Group enriched (blood, testis) |
MalaCardsi | RPGRIP1 |
MIMi | 605446, gene 608194, phenotype 613826, phenotype |
neXtProti | NX_Q96KN7 |
OpenTargetsi | ENSG00000092200 |
Orphaneti | 1872, Cone rod dystrophy 65, Leber congenital amaurosis 564, Meckel syndrome |
PharmGKBi | PA34657 |
VEuPathDBi | HostDB:ENSG00000092200.12 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | ENOG502R3GU, Eukaryota |
GeneTreei | ENSGT00520000055620 |
HOGENOMi | CLU_468463_0_0_1 |
InParanoidi | Q96KN7 |
OMAi | NTLAAGW |
OrthoDBi | 152378at2759 |
PhylomeDBi | Q96KN7 |
TreeFami | TF328883 |
Enzyme and pathway databases
PathwayCommonsi | Q96KN7 |
SIGNORi | Q96KN7 |
Miscellaneous databases
BioGRID-ORCSi | 57096, 19 hits in 985 CRISPR screens |
ChiTaRSi | RPGRIP1, human |
GeneWikii | RPGRIP1 |
GenomeRNAii | 57096 |
Pharosi | Q96KN7, Tbio |
PROi | PR:Q96KN7 |
RNActi | Q96KN7, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000092200, Expressed in testis and 120 other tissues |
ExpressionAtlasi | Q96KN7, baseline and differential |
Genevisiblei | Q96KN7, HS |
Family and domain databases
Gene3Di | 2.60.40.150, 3 hits |
InterProi | View protein in InterPro IPR021656, C2-C2_1 IPR000008, C2_dom IPR035892, C2_domain_sf IPR031134, RPGRIP1 IPR041091, RPGRIP1_C IPR031139, RPGRIP1_fam |
PANTHERi | PTHR14240, PTHR14240, 1 hit PTHR14240:SF3, PTHR14240:SF3, 1 hit |
Pfami | View protein in Pfam PF00168, C2, 1 hit PF11618, C2-C2_1, 1 hit PF18111, RPGR1_C, 1 hit |
PROSITEi | View protein in PROSITE PS50004, C2, 1 hit |
ProtoNeti | Search... |
MobiDBi | Search... |
Entry informationi
Entry namei | RPGR1_HUMAN | |
Accessioni | Q96KN7Primary (citable) accession number: Q96KN7 Secondary accession number(s): Q7Z2W6 Q9NR40 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | March 1, 2004 |
Last sequence update: | May 18, 2010 | |
Last modified: | April 7, 2021 | |
This is version 173 of the entry and version 2 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. |
Miscellaneousi
Keywords - Technical termi
3D-structure, Reference proteomeDocuments
- Human chromosome 14
Human chromosome 14: entries, gene names and cross-references to MIM - Human entries with genetic variants
List of human entries with genetic variants - Human variants curated from literature reports
Index of human variants curated from literature reports - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot - PDB cross-references
Index of Protein Data Bank (PDB) cross-references - SIMILARITY comments
Index of protein domains and families