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Protein

X-linked retinitis pigmentosa GTPase regulator-interacting protein 1

Gene

Rpgrip1

Organism
Mus musculus (Mouse)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

May function as scaffolding protein. Required for normal location of RPGR at the connecting cilium of photoreceptor cells. Required for normal disk morphogenesis and disk organization in the outer segment of photoreceptor cells and for survival of photoreceptor cells.1 Publication

GO - Biological processi

Keywordsi

Biological processSensory transduction, Vision

Names & Taxonomyi

Protein namesi
Recommended name:
X-linked retinitis pigmentosa GTPase regulator-interacting protein 1
Short name:
RPGR-interacting protein 1
Gene namesi
Name:Rpgrip1
OrganismiMus musculus (Mouse)
Taxonomic identifieri10090 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresGliresRodentiaMyomorphaMuroideaMuridaeMurinaeMusMus
Proteomesi
  • UP000000589 Componenti: Chromosome 14

Organism-specific databases

MGIiMGI:1932134 Rpgrip1

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Cell projection, Cilium

Pathology & Biotechi

Disruption phenotypei

Mutant mice are born at the expected Mendelian rate, appear healthy and are fertile. They have initially a complete set of photoreceptor cells in the retina, but the photoreceptor cells present defects in the outer segments indicative of cell death, and loss of photoreceptor cells is almost complete after three months.1 Publication

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000974331 – 1331X-linked retinitis pigmentosa GTPase regulator-interacting protein 1Add BLAST1331

Proteomic databases

PaxDbiQ9EPQ2
PRIDEiQ9EPQ2

PTM databases

iPTMnetiQ9EPQ2
PhosphoSitePlusiQ9EPQ2

Expressioni

Tissue specificityi

Colocalizes with RGPR in the photoreceptor connecting cilium, a thin bridge linking the cell body and the light-sensing outer segment (at protein level).3 Publications

Gene expression databases

BgeeiENSMUSG00000057132 Expressed in 246 organ(s), highest expression level in brain
ExpressionAtlasiQ9EPQ2 baseline and differential
GenevisibleiQ9EPQ2 MM

Interactioni

Subunit structurei

Interacts with NPHP4. Interacts with NEK4 (By similarity). Forms homodimers and elongated homopolymers. Interacts with RPGR. Interacts with SPATA7 (PubMed:25398945). Interacts with CEP290/NPHP6; mediating the association between RPGR and CEP290/NPHP6 (By similarity).By similarity3 Publications

Protein-protein interaction databases

BioGridi219040, 2 interactors
IntActiQ9EPQ2, 1 interactor
STRINGi10090.ENSMUSP00000107230

Structurei

3D structure databases

ProteinModelPortaliQ9EPQ2
SMRiQ9EPQ2
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini750 – 854C2PROSITE-ProRule annotationAdd BLAST105

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni1136 – 1326Interaction with RPGRBy similarityAdd BLAST191

Coiled coil

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Coiled coili236 – 352Sequence analysisAdd BLAST117
Coiled coili498 – 546Sequence analysisAdd BLAST49
Coiled coili908 – 999Sequence analysisAdd BLAST92

Domaini

The C2 domain does not bind calcium ions, and does not bind phosphoinositides.By similarity

Sequence similaritiesi

Belongs to the RPGRIP1 family.Curated

Keywords - Domaini

Coiled coil

Phylogenomic databases

eggNOGiENOG410IGZN Eukaryota
ENOG410YNUX LUCA
GeneTreeiENSGT00520000055620
HOGENOMiHOG000154182
HOVERGENiHBG060744
InParanoidiQ9EPQ2
KOiK16512
OrthoDBiEOG091G03K7
PhylomeDBiQ9EPQ2
TreeFamiTF328883

Family and domain databases

Gene3Di2.60.40.150, 3 hits
InterProiView protein in InterPro
IPR021656 C2-C2_1
IPR000008 C2_dom
IPR035892 C2_domain_sf
IPR031134 RPGRIP1
IPR031139 RPGRIP1_fam
PANTHERiPTHR14240 PTHR14240, 1 hit
PTHR14240:SF3 PTHR14240:SF3, 1 hit
PfamiView protein in Pfam
PF00168 C2, 1 hit
PF11618 C2-C2_1, 1 hit
PROSITEiView protein in PROSITE
PS50004 C2, 1 hit

Sequences (5+)i

Sequence statusi: Complete.

This entry describes 5 isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 5 described isoforms and 9 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: Q9EPQ2-1) [UniParc]FASTAAdd to basket

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.

« Hide
        10         20         30         40         50
MQHLLEYMPE DLPVRDTDSS PLLKGTSGKN VRAQPHLGRM NQKELNCRRL
60 70 80 90 100
HLHEEPTLVK EPSPKQRDKN RRRRTNVQRS TTTQPDLRTL AVLQEPERRR
110 120 130 140 150
RPWVSASPSP SAPPRAPVPG RKAHVQRLCP STAVGSAQPR VHAGRRLPHI
160 170 180 190 200
AGPNDRRSHT APPAFKDYVA DKNTRIEITR EPSQLTHTMT TDSTHVEEIP
210 220 230 240 250
RSPEKTSKVE KPEQRSSEEC TQKAAELRAS IKENVELIRL KKLLQERNTS
260 270 280 290 300
LAATEAQLTR VQEAYEDLLQ KNQGILDTAH NAFLSQVNEL KAELSEESKK
310 320 330 340 350
AVSLRTQLGD VSILQITLKE FQVRVEDLEK ERKLLSDSYD RLLENMLDSS
360 370 380 390 400
HQPLDSSHQP HWSTELTGKQ LPPQVCPLLD QMGTALEETK VFRQATNKAA
410 420 430 440 450
QDGKLKFQDT DILYQHEQEE ESLQSTATVA SSPEELCELA AQPTLLPQTD
460 470 480 490 500
QRESSEPKAQ DENDLSQVLS ELQVSHAETT LELEKTRDML LLQRKINMCY
510 520 530 540 550
QEELEATLTK ADRENRDHEE KLERLNHLLD FKNSRIKQLE GILRSHGLPT
560 570 580 590 600
SEQLKDVAYG TLPPSLCLEP LAAHRGDDEV DMSLLHPSEN LFELHVHQAF
610 620 630 640 650
LTPAALTQAG DTQPTTFCTY SFYDFETHCT PLSTGPQPLY DFTSQYVVQA
660 670 680 690 700
DYLLLHYLQG TSVRLDLHQA MASEYHVLAT GWISLDKVLG TVERVHGLAT
710 720 730 740 750
LAGAGGEDLG VLEYWMRLCL PLKPSLQACN KRKKAQAYLS VSVLGARKVQ
760 770 780 790 800
SNESRSETWA PQNELRVEIT RCCGLRSRRL GRQPSPYVMY RFFTFPDHDT
810 820 830 840 850
IIIPASSNPY FKDQALFPVL VTSDLDQYLR REALSVYVFD DEDPEPGSYL
860 870 880 890 900
GRAQVPLLPL AQNKSIKGDF NLTDSGEKSN GSIKVQLDWK SHYLAPEGFQ
910 920 930 940 950
MSEAEKPEGE EKEEEGGEEE VKEEEVEEEE EEEEEEEEVK EEKEEEEEEE
960 970 980 990 1000
REEEEEKEEE KEEEEEEDEK EEEEEEEEEE EEEEEDENKD VLEASFTEEW
1010 1020 1030 1040 1050
VPFFSQDQIA STEIPIEAGQ YPEKRKPPVI AEKKEREHQV ASYSRRKHSK
1060 1070 1080 1090 1100
KPGVQDKNRM EYLSCNILNG NTQQMHYTEW KFSGLKKAED GGLKAQDKRE
1110 1120 1130 1140 1150
EPPSPRSALR QEHPSHPRNA FSLADQESCE QASEVSETQT TDSDDIIVTP
1160 1170 1180 1190 1200
QAQTVPKADS EKMCIEIVSL AFCPEADVMS DETIQQVYVE YKFCDLPLSE
1210 1220 1230 1240 1250
TETPMSLRKP RAGEEIHFHF SKVIDLDPVE HQSRRQFLFA MLHAQDSDEG
1260 1270 1280 1290 1300
RFKFTVVSDP LDEEKKECQD IGYAYLELWQ IFQSGKDILE QELEIVSPRN
1310 1320 1330
QAIQIGRLKV SLQAAAALHG IYKEMTEDLF S
Length:1,331
Mass (Da):151,996
Last modified:March 1, 2001 - v1
Checksum:iAEDA7F33750D593E
GO
Isoform 2 (identifier: Q9EPQ2-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     399-399: Missing.
     552-554: EQL → GKS
     555-1331: Missing.

Show »
Length:553
Mass (Da):62,963
Checksum:i3BC001461F109746
GO
Isoform 3 (identifier: Q9EPQ2-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-319: Missing.
     320-345: EFQVRVEDLEKERKLLSDSYDRLLEN → MLKLCNKDAGSYSFEDPSDTEPGVFS
     399-399: Missing.
     552-867: Missing.

Show »
Length:695
Mass (Da):80,026
Checksum:iA29EA1E45C263F6B
GO
Isoform 4 (identifier: Q9EPQ2-4) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-319: Missing.
     320-345: EFQVRVEDLEKERKLLSDSYDRLLEN → MLKLCNKDAGSYSFEDPSDTEPGVFS
     541-867: Missing.

Show »
Length:685
Mass (Da):78,977
Checksum:iB54B3C39E11BB587
GO
Isoform 5 (identifier: Q9EPQ2-5) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-1074: Missing.

Show »
Length:257
Mass (Da):29,286
Checksum:i1B9D4EE6787784AA
GO

Computationally mapped potential isoform sequencesi

There are 9 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
M0QW56M0QW56_MOUSE
X-linked retinitis pigmentosa GTPas...
Rpgrip1
191Annotation score:
E9QQ97E9QQ97_MOUSE
X-linked retinitis pigmentosa GTPas...
Rpgrip1
1,127Annotation score:
E7CHD7E7CHD7_MOUSE
RPGRIP1 variant-11aa
Rpgrip1
1,320Annotation score:
M0QWM1M0QWM1_MOUSE
X-linked retinitis pigmentosa GTPas...
Rpgrip1
295Annotation score:
M0QWC0M0QWC0_MOUSE
X-linked retinitis pigmentosa GTPas...
Rpgrip1
289Annotation score:
M0QWT5M0QWT5_MOUSE
X-linked retinitis pigmentosa GTPas...
Rpgrip1
71Annotation score:
M0QWL3M0QWL3_MOUSE
X-linked retinitis pigmentosa GTPas...
Rpgrip1
82Annotation score:
M0QW58M0QW58_MOUSE
X-linked retinitis pigmentosa GTPas...
Rpgrip1
201Annotation score:
M0QWI1M0QWI1_MOUSE
X-linked retinitis pigmentosa GTPas...
Rpgrip1
91Annotation score:

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti921V → A in BAB29938 (PubMed:16141072).Curated1
Sequence conflicti1096Q → H in BAB29685 (PubMed:16141072).Curated1
Sequence conflicti1156P → L in BAB29685 (PubMed:16141072).Curated1
Sequence conflicti1197P → S in BAB29685 (PubMed:16141072).Curated1
Sequence conflicti1204P → S in BAB29685 (PubMed:16141072).Curated1
Sequence conflicti1210 – 1211PR → LM in BAB29685 (PubMed:16141072).Curated2
Sequence conflicti1219H → Y in BAB29685 (PubMed:16141072).Curated1
Sequence conflicti1222K → N in BAB29685 (PubMed:16141072).Curated1
Sequence conflicti1252F → V in BAB29685 (PubMed:16141072).Curated1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0095291 – 1074Missing in isoform 5. 1 PublicationAdd BLAST1074
Alternative sequenceiVSP_0095281 – 319Missing in isoform 3 and isoform 4. 1 PublicationAdd BLAST319
Alternative sequenceiVSP_009530320 – 345EFQVR…RLLEN → MLKLCNKDAGSYSFEDPSDT EPGVFS in isoform 3 and isoform 4. 1 PublicationAdd BLAST26
Alternative sequenceiVSP_009531399Missing in isoform 2 and isoform 3. 2 Publications1
Alternative sequenceiVSP_009533541 – 867Missing in isoform 4. 1 PublicationAdd BLAST327
Alternative sequenceiVSP_009534552 – 867Missing in isoform 3. 1 PublicationAdd BLAST316
Alternative sequenceiVSP_009532552 – 554EQL → GKS in isoform 2. 1 Publication3
Alternative sequenceiVSP_009535555 – 1331Missing in isoform 2. 1 PublicationAdd BLAST777

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AY008297 mRNA Translation: AAG22857.1
AK015037 mRNA Translation: BAB29685.1
AK015701 mRNA Translation: BAB29938.1
AK029955 mRNA Translation: BAC26697.1
AK039097 mRNA Translation: BAC30237.1
BC016092 mRNA Translation: AAH16092.1
CCDSiCCDS36918.1 [Q9EPQ2-1]
RefSeqiNP_001161987.1, NM_001168515.1
NP_076368.1, NM_023879.3 [Q9EPQ2-1]
XP_006519759.1, XM_006519696.3 [Q9EPQ2-3]
UniGeneiMm.21662

Genome annotation databases

EnsembliENSMUST00000111603; ENSMUSP00000107230; ENSMUSG00000057132 [Q9EPQ2-1]
GeneIDi77945
KEGGimmu:77945
UCSCiuc007tok.2 mouse [Q9EPQ2-1]
uc007ton.1 mouse [Q9EPQ2-4]
uc007too.1 mouse [Q9EPQ2-3]
uc011zkl.1 mouse [Q9EPQ2-5]

Keywords - Coding sequence diversityi

Alternative splicing

Similar proteinsi

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AY008297 mRNA Translation: AAG22857.1
AK015037 mRNA Translation: BAB29685.1
AK015701 mRNA Translation: BAB29938.1
AK029955 mRNA Translation: BAC26697.1
AK039097 mRNA Translation: BAC30237.1
BC016092 mRNA Translation: AAH16092.1
CCDSiCCDS36918.1 [Q9EPQ2-1]
RefSeqiNP_001161987.1, NM_001168515.1
NP_076368.1, NM_023879.3 [Q9EPQ2-1]
XP_006519759.1, XM_006519696.3 [Q9EPQ2-3]
UniGeneiMm.21662

3D structure databases

ProteinModelPortaliQ9EPQ2
SMRiQ9EPQ2
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi219040, 2 interactors
IntActiQ9EPQ2, 1 interactor
STRINGi10090.ENSMUSP00000107230

PTM databases

iPTMnetiQ9EPQ2
PhosphoSitePlusiQ9EPQ2

Proteomic databases

PaxDbiQ9EPQ2
PRIDEiQ9EPQ2

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENSMUST00000111603; ENSMUSP00000107230; ENSMUSG00000057132 [Q9EPQ2-1]
GeneIDi77945
KEGGimmu:77945
UCSCiuc007tok.2 mouse [Q9EPQ2-1]
uc007ton.1 mouse [Q9EPQ2-4]
uc007too.1 mouse [Q9EPQ2-3]
uc011zkl.1 mouse [Q9EPQ2-5]

Organism-specific databases

CTDi57096
MGIiMGI:1932134 Rpgrip1

Phylogenomic databases

eggNOGiENOG410IGZN Eukaryota
ENOG410YNUX LUCA
GeneTreeiENSGT00520000055620
HOGENOMiHOG000154182
HOVERGENiHBG060744
InParanoidiQ9EPQ2
KOiK16512
OrthoDBiEOG091G03K7
PhylomeDBiQ9EPQ2
TreeFamiTF328883

Miscellaneous databases

ChiTaRSiRpgrip1 mouse
PROiPR:Q9EPQ2
SOURCEiSearch...

Gene expression databases

BgeeiENSMUSG00000057132 Expressed in 246 organ(s), highest expression level in brain
ExpressionAtlasiQ9EPQ2 baseline and differential
GenevisibleiQ9EPQ2 MM

Family and domain databases

Gene3Di2.60.40.150, 3 hits
InterProiView protein in InterPro
IPR021656 C2-C2_1
IPR000008 C2_dom
IPR035892 C2_domain_sf
IPR031134 RPGRIP1
IPR031139 RPGRIP1_fam
PANTHERiPTHR14240 PTHR14240, 1 hit
PTHR14240:SF3 PTHR14240:SF3, 1 hit
PfamiView protein in Pfam
PF00168 C2, 1 hit
PF11618 C2-C2_1, 1 hit
PROSITEiView protein in PROSITE
PS50004 C2, 1 hit
ProtoNetiSearch...

Entry informationi

Entry nameiRPGR1_MOUSE
AccessioniPrimary (citable) accession number: Q9EPQ2
Secondary accession number(s): Q8CAC2
, Q8CDJ9, Q91WE0, Q9CUK6, Q9D5Q1
Entry historyiIntegrated into UniProtKB/Swiss-Prot: March 1, 2004
Last sequence update: March 1, 2001
Last modified: November 7, 2018
This is version 130 of the entry and version 1 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. SIMILARITY comments
    Index of protein domains and families
  2. MGD cross-references
    Mouse Genome Database (MGD) cross-references in UniProtKB/Swiss-Prot
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