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Q96KN7 (RPGR1_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified April 16, 2014. Version 109. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Web links·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
X-linked retinitis pigmentosa GTPase regulator-interacting protein 1

Short name=RPGR-interacting protein 1
Gene names
Name:RPGRIP1
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length1286 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

Essential for RPGR function and is also required for normal disk morphogenesis By similarity.

Subunit structure

Forms homodimers and elongated homopolymers By similarity. Interacts with RPGR. Interacts with NPHP4. Ref.1 Ref.2 Ref.8

Subcellular location

Cell projectioncilium By similarity. Note: Situated between the axonemal microtubules and the plasma membrane By similarity.

Tissue specificity

Strong expression in retina, with weaker expression in testis. Expressed in other neurons such as amacrine cells. Colocalizes with RGPR in the outer segment of rod photoreceptors and cone outer segments. Ref.1 Ref.2 Ref.7

Involvement in disease

Leber congenital amaurosis 6 (LCA6) [MIM:613826]: A severe dystrophy of the retina, typically becoming evident in the first years of life. Visual function is usually poor and often accompanied by nystagmus, sluggish or near-absent pupillary responses, photophobia, high hyperopia and keratoconus.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.3 Ref.10

Cone-rod dystrophy 13 (CORD13) [MIM:608194]: An 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.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.1 Ref.9

Heterozygous non-synonymous variants of RPGRIP1 may cause or increase the susceptibility to various forms of glaucoma, a genetically heterogeneous disorder. It is the second cause of blindness worldwide owing to the progressive degeneration of retinal ganglion neurons.

Sequence similarities

Belongs to the RPGRIP1 family.

Contains 1 C2 domain.

Sequence caution

The sequence CAE11866.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.

Alternative products

This entry describes 6 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: Q96KN7-1)

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.
Isoform 2 (identifier: Q96KN7-2)

Also known as: a;

The sequence of this isoform differs from the canonical sequence as follows:
     1-617: Missing.
     618-623: ISLLHQ → MTFQHL
Isoform 3 (identifier: Q96KN7-3)

Also known as: b;

The sequence of this isoform differs from the canonical sequence as follows:
     1-641: Missing.
     642-673: LAQAGDTQPTTFCTYSFYDFETHCTPLSVGPQ → MLLMAPDRCRYVWKHCQPMEMRIKWIFLCCIR
Isoform 4 (identifier: Q96KN7-4)

The sequence of this isoform differs from the canonical sequence as follows:
     1-358: Missing.
     359-383: EFQERVEDLEKERKLLNDNYDKLLE → MLKLDNKDVISHPLGYPSESLLSIA
     588-903: Missing.
Isoform 5 (identifier: Q96KN7-5)

The sequence of this isoform differs from the canonical sequence as follows:
     1-384: Missing.
Isoform 6 (identifier: Q96KN7-6)

The sequence of this isoform differs from the canonical sequence as follows:
     1-384: Missing.
     966-1286: Missing.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 12861286X-linked retinitis pigmentosa GTPase regulator-interacting protein 1
PRO_0000097432

Regions

Domain801 – 89090C2
Region952 – 1281330Interaction with RPGR
Coiled coil294 – 584291 Potential

Natural variations

Alternative sequence1 – 641641Missing in isoform 3.
VSP_009522
Alternative sequence1 – 617617Missing in isoform 2.
VSP_009521
Alternative sequence1 – 384384Missing in isoform 5 and isoform 6.
VSP_009520
Alternative sequence1 – 358358Missing in isoform 4.
VSP_009519
Alternative sequence359 – 38325EFQER…DKLLE → MLKLDNKDVISHPLGYPSES LLSIA in isoform 4.
VSP_009523
Alternative sequence588 – 903316Missing in isoform 4.
VSP_009524
Alternative sequence618 – 6236ISLLHQ → MTFQHL in isoform 2.
VSP_009525
Alternative sequence642 – 67332LAQAG…SVGPQ → MLLMAPDRCRYVWKHCQPME MRIKWIFLCCIR in isoform 3.
VSP_009526
Alternative sequence966 – 1286321Missing in isoform 6.
VSP_009527
Natural variant321M → L. Ref.8
VAR_065720
Natural variant961P → Q. Ref.10
Corresponds to variant rs1040904 [ dbSNP | Ensembl ].
VAR_057772
Natural variant1351S → R. Ref.8
VAR_065721
Natural variant1921K → E. Ref.10
Corresponds to variant rs6571751 [ dbSNP | Ensembl ].
VAR_017830
Natural variant3181A → V in a patient with primary open angle glaucoma. Ref.8
VAR_065722
Natural variant3631R → T in a patient with normal tension glaucoma. Ref.8
VAR_065723
Natural variant4321S → F Found in a patient with LCA6. Ref.10
Corresponds to variant rs190985984 [ dbSNP | Ensembl ].
VAR_067184
Natural variant5471A → S in CORD13. Ref.1 Ref.9
Corresponds to variant rs10151259 [ dbSNP | Ensembl ].
VAR_017831
Natural variant5851P → S. Ref.8
Corresponds to variant rs147586703 [ dbSNP | Ensembl ].
VAR_065724
Natural variant5891Q → H Does not affect the interaction with NPHP4. Ref.8
Corresponds to variant rs34067949 [ dbSNP | Ensembl ].
VAR_065725
Natural variant5981R → Q Found in patients with primary open angle glaucoma and juvenile open angle glaucoma; affects the interaction with NPHP4. Ref.8
Corresponds to variant rs74034910 [ dbSNP | Ensembl ].
VAR_065726
Natural variant6011S → L.
Corresponds to variant rs3748360 [ dbSNP | Ensembl ].
VAR_017832
Natural variant6011S → W Found in a patient with LCA6. Ref.10
Corresponds to variant rs3748360 [ dbSNP | Ensembl ].
VAR_067185
Natural variant6031C → S. Ref.8
VAR_065727
Natural variant6311H → P in LCA6. Ref.10
VAR_067186
Natural variant6351A → G in a patient with normal tension glaucoma and a patient with primary open angle glaucoma; affects the interaction with NPHP4. Ref.8
VAR_065728
Natural variant6381T → I. Ref.8
VAR_065729
Natural variant7461G → E in LCA6. Ref.3
VAR_017833
Natural variant7641A → V Does not affect the interaction with NPHP4. Ref.8
VAR_065730
Natural variant8061T → I in a patient with primary open angle glaucoma who also carries variant K-352 in MYOC; affects the interaction with NPHP4. Ref.8
Corresponds to variant rs142796310 [ dbSNP | Ensembl ].
VAR_065731
Natural variant8121R → H Does not affect the interaction with NPHP4. Ref.8
VAR_065732
Natural variant8141R → L. Ref.8
VAR_065733
Natural variant8271R → L in CORD13. Ref.9
Corresponds to variant rs28937883 [ dbSNP | Ensembl ].
VAR_017834
Natural variant8371A → G in a patient with primary open angle glaucoma and a patient with juvenile open angle glaucoma; affects the interaction with NPHP4. Ref.8
VAR_065734
Natural variant8381I → V in a patient with normal tension glaucoma and a patient with primary open angle glaucoma; affects the interaction with NPHP4. Ref.8
VAR_065735
Natural variant8411A → T. Ref.8
VAR_065736
Natural variant8521R → Q. Ref.8
Corresponds to variant rs181758389 [ dbSNP | Ensembl ].
VAR_065737
Natural variant8831G → D. Ref.8
VAR_065738
Natural variant9601A → P.
Corresponds to variant rs35810926 [ dbSNP | Ensembl ].
VAR_057773
Natural variant10331E → Q. Ref.2 Ref.3 Ref.5 Ref.10
Corresponds to variant rs3748361 [ dbSNP | Ensembl ].
VAR_017835
Natural variant10571H → L Found in a patient associated with LCA6. Ref.10
Corresponds to variant rs201521970 [ dbSNP | Ensembl ].
VAR_067187
Natural variant11141D → G in LCA6. Ref.3
Corresponds to variant rs17103671 [ dbSNP | Ensembl ].
VAR_017836
Natural variant11301E → Q Found in a patient with LCA6. Ref.11
VAR_067188
Natural variant12401G → E.
Corresponds to variant rs34725281 [ dbSNP | Ensembl ].
VAR_057774

Experimental info

Sequence conflict5391Missing in AAG10246. Ref.1
Sequence conflict554 – 5552HK → SQR in AAG10246. Ref.1
Sequence conflict6111G → R in CAE11866. Ref.6
Sequence conflict11591P → L in CAE11866. Ref.6

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 [UniParc].

Last modified May 18, 2010. Version 2.
Checksum: 00AC1C2A0AC82253

FASTA1,286146,682
        10         20         30         40         50         60 
MSHLVDPTSG DLPVRDIDAI PLVLPASKGK NMKTQPPLSR MNREELEDSF FRLREDHMLV 

        70         80         90        100        110        120 
KELSWKQQDE IKRLRTTLLR LTAAGRDLRV AEEAAPLSET ARRGQKAGWR QRLSMHQRPQ 

       130        140        150        160        170        180 
MHRLQGHFHC VGPASPRRAQ PRVQVGHRQL HTAGAPVPEK PKRGPRDRLS YTAPPSFKEH 

       190        200        210        220        230        240 
ATNENRGEVA SKPSELVSGS NSIISFSSVI SMAKPIGLCM PNSAHIMASN TMQVEEPPKS 

       250        260        270        280        290        300 
PEKMWPKDEN FEQRSSLECA QKAAELRASI KEKVELIRLK KLLHERNASL VMTKAQLTEV 

       310        320        330        340        350        360 
QEAYETLLQK NQGILSAAHE ALLKQVNELR AELKEESKKA VSLKSQLEDV SILQMTLKEF 

       370        380        390        400        410        420 
QERVEDLEKE RKLLNDNYDK LLESMLDSSD SSSQPHWSNE LIAEQLQQQV SQLQDQLDAE 

       430        440        450        460        470        480 
LEDKRKVLLE LSREKAQNED LKLEVTNILQ KHKQEVELLQ NAATISQPPD RQSEPATHPA 

       490        500        510        520        530        540 
VLQENTQIEP SEPKNQEEKK LSQVLNELQV SHAETTLELE KTRDMLILQR KINVCYQEEL 

       550        560        570        580        590        600 
EAMMTKADND NRDHKEKLER LTRLLDLKNN RIKQLEGILR SHDLPTSEQL KDVAYGTRPL 

       610        620        630        640        650        660 
SLCLETLPAH GDEDKVDISL LHQGENLFEL HIHQAFLTSA ALAQAGDTQP TTFCTYSFYD 

       670        680        690        700        710        720 
FETHCTPLSV GPQPLYDFTS QYVMETDSLF LHYLQEASAR LDIHQAMASE HSTLAAGWIC 

       730        740        750        760        770        780 
FDRVLETVEK VHGLATLIGA GGEEFGVLEY WMRLRFPIKP SLQACNKRKK AQVYLSTDVL 

       790        800        810        820        830        840 
GGRKAQEEEF RSESWEPQNE LWIEITKCCG LRSRWLGTQP SPYAVYRFFT FSDHDTAIIP 

       850        860        870        880        890        900 
ASNNPYFRDQ ARFPVLVTSD LDHYLRREAL SIHVFDDEDL EPGSYLGRAR VPLLPLAKNE 

       910        920        930        940        950        960 
SIKGDFNLTD PAEKPNGSIQ VQLDWKFPYI PPESFLKPEA QTKGKDTKDS SKISSEEEKA 

       970        980        990       1000       1010       1020 
SFPSQDQMAS PEVPIEAGQY RSKRKPPHGG ERKEKEHQVV SYSRRKHGKR IGVQGKNRME 

      1030       1040       1050       1060       1070       1080 
YLSLNILNGN TPEQVNYTEW KFSETNSFIG DGFKNQHEEE EMTLSHSALK QKEPLHPVND 

      1090       1100       1110       1120       1130       1140 
KESSEQGSEV SEAQTTDSDD VIVPPMSQKY PKADSEKMCI EIVSLAFYPE AEVMSDENIK 

      1150       1160       1170       1180       1190       1200 
QVYVEYKFYD LPLSETETPV SLRKPRAGEE IHFHFSKVID LDPQEQQGRR RFLFDMLNGQ 

      1210       1220       1230       1240       1250       1260 
DPDQGHLKFT VVSDPLDEEK KECEEVGYAY LQLWQILESG RDILEQELDI VSPEDLATPI 

      1270       1280 
GRLKVSLQAA AVLHAIYKEM TEDLFS 

« Hide

Isoform 2 (a) [UniParc].

Checksum: F27A364596947FA9
Show »

FASTA66976,372
Isoform 3 (b) [UniParc].

Checksum: 231F8AE6557EEEDB
Show »

FASTA64574,179
Isoform 4 [UniParc].

Checksum: C444C7EBA35D4918
Show »

FASTA61270,051
Isoform 5 [UniParc].

Checksum: 2A9013EC2A8319CD
Show »

FASTA902103,124
Isoform 6 [UniParc].

Checksum: 481BE9E573F48A33
Show »

FASTA58166,319

References

« Hide 'large scale' references
[1]"The retinitis pigmentosa GTPase regulator (RPGR) interacts with novel transport-like proteins in the outer segments of rod photoreceptors."
Roepman R., Bernoud-Hubac N., Schick D.E., Maugeri A., Berger W., Ropers H.-H., Cremers F.P.M., Ferreira P.A.
Hum. Mol. Genet. 9:2095-2105(2000) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 2 AND 3), NUCLEOTIDE SEQUENCE [MRNA] OF 525-1286 (ISOFORM 1), INTERACTION WITH RPGR, TISSUE SPECIFICITY, VARIANT CORD13 SER-547.
Tissue: Retina.
[2]"Identification of a novel protein interacting with RPGR."
Boylan J.P., Wright A.F.
Hum. Mol. Genet. 9:2085-2093(2000) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 5 AND 6), INTERACTION WITH RPGR, TISSUE SPECIFICITY, VARIANT GLN-1033.
[3]"Complete exon-intron structure of the RPGR-interacting protein (RPGRIP1) gene allows the identification of mutations underlying Leber congenital amaurosis."
Gerber S., Perrault I., Hanein S., Barbet F., Ducroq D., Ghazi I., Martin-Coignard D., Leowski C., Homfray T., Dufier J.-L., Munnich A., Kaplan J., Rozet J.-M.
Eur. J. Hum. Genet. 9:561-571(2001) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA] (ISOFORM 1), VARIANTS LCA6 GLU-746 AND GLY-1114, VARIANT GLN-1033.
[4]"The DNA sequence and analysis of human chromosome 14."
Heilig R., Eckenberg R., Petit J.-L., Fonknechten N., Da Silva C., Cattolico L., Levy M., Barbe V., De Berardinis V., Ureta-Vidal A., Pelletier E., Vico V., Anthouard V., Rowen L., Madan A., Qin S., Sun H., Du H. expand/collapse author list , Pepin K., Artiguenave F., Robert C., Cruaud C., Bruels T., Jaillon O., Friedlander L., Samson G., Brottier P., Cure S., Segurens B., Aniere F., Samain S., Crespeau H., Abbasi N., Aiach N., Boscus D., Dickhoff R., Dors M., Dubois I., Friedman C., Gouyvenoux M., James R., Madan A., Mairey-Estrada B., Mangenot S., Martins N., Menard M., Oztas S., Ratcliffe A., Shaffer T., Trask B., Vacherie B., Bellemere C., Belser C., Besnard-Gonnet M., Bartol-Mavel D., Boutard M., Briez-Silla S., Combette S., Dufosse-Laurent V., Ferron C., Lechaplais C., Louesse C., Muselet D., Magdelenat G., Pateau E., Petit E., Sirvain-Trukniewicz P., Trybou A., Vega-Czarny N., Bataille E., Bluet E., Bordelais I., Dubois M., Dumont C., Guerin T., Haffray S., Hammadi R., Muanga J., Pellouin V., Robert D., Wunderle E., Gauguet G., Roy A., Sainte-Marthe L., Verdier J., Verdier-Discala C., Hillier L.W., Fulton L., McPherson J., Matsuda F., Wilson R., Scarpelli C., Gyapay G., Wincker P., Saurin W., Quetier F., Waterston R., Hood L., Weissenbach J.
Nature 421:601-607(2003) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[5]"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
The MGC Project Team
Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 4), VARIANT GLN-1033.
Tissue: Brain.
[6]"The full-ORF clone resource of the German cDNA consortium."
Bechtel S., Rosenfelder H., Duda A., Schmidt C.P., Ernst U., Wellenreuther R., Mehrle A., Schuster C., Bahr A., Bloecker H., Heubner D., Hoerlein A., Michel G., Wedler H., Koehrer K., Ottenwaelder B., Poustka A., Wiemann S., Schupp I.
BMC Genomics 8:399-399(2007) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 588-1286 (ISOFORM 1).
Tissue: Retina.
[7]"Species-specific subcellular localization of RPGR and RPGRIP isoforms: implications for the phenotypic variability of congenital retinopathies among species."
Mavlyutov T.A., Zhao H., Ferreira P.A.
Hum. Mol. Genet. 11:1899-1907(2002) [PubMed] [Europe PMC] [Abstract]
Cited for: TISSUE SPECIFICITY.
[8]"Evidence for RPGRIP1 gene as risk factor for primary open angle glaucoma."
Fernandez-Martinez L., Letteboer S., Mardin C.Y., Weisschuh N., Gramer E., Weber B.H., Rautenstrauss B., Ferreira P.A., Kruse F.E., Reis A., Roepman R., Pasutto F.
Eur. J. Hum. Genet. 19:445-451(2011) [PubMed] [Europe PMC] [Abstract]
Cited for: INTERACTION WITH NPHP4, INVOLVEMENT IN GLAUCOMA, VARIANTS LEU-32; ARG-135; VAL-318; THR-363; SER-585; HIS-589; GLN-598; SER-603; GLY-635; ILE-638; VAL-764; ILE-806; HIS-812; LEU-814; GLY-837; VAL-838; THR-841; GLN-852 AND ASP-883, CHARACTERIZATION OF VARIANTS HIS-589; GLN-598; GLY-635; VAL-764; ILE-806; HIS-812; GLY-837 AND VAL-838.
[9]"Evidence of RPGRIP1 gene mutations associated with recessive cone-rod dystrophy."
Hameed A., Abid A., Aziz A., Ismail M., Mehdi S.Q., Khaliq S.
J. Med. Genet. 40:616-619(2003) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS CORD13 SER-547 AND LEU-827.
[10]"Molecular characterization of Leber congenital amaurosis in Koreans."
Seong M.W., Kim S.Y., Yu Y.S., Hwang J.M., Kim J.Y., Park S.S.
Mol. Vis. 14:1429-1436(2008) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT LCA6 PRO-631, VARIANTS GLN-96; GLU-192; PHE-432; TRP-601; GLN-1033 AND LEU-1057.
[11]"Detection of variants in 15 genes in 87 unrelated Chinese patients with Leber congenital amaurosis."
Li L., Xiao X., Li S., Jia X., Wang P., Guo X., Jiao X., Zhang Q., Hejtmancik J.F.
PLoS ONE 6:E19458-E19458(2011) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT GLN-1130.
+Additional computationally mapped references.

Web resources

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
AF227257 mRNA. Translation: AAG10246.1.
AF265666 mRNA. Translation: AAG10000.1.
AF265667 mRNA. Translation: AAG10001.1.
AF260257 mRNA. Translation: AAF91371.1.
AJ417048 expand/collapse EMBL AC list , 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.
RefSeqNP_065099.3. NM_020366.3.
UniGeneHs.126035.

3D structure databases

ProteinModelPortalQ96KN7.
SMRQ96KN7. Positions 621-755, 799-908.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid121364. 3 interactions.
STRING9606.ENSP00000382895.

PTM databases

PhosphoSiteQ96KN7.

Polymorphism databases

DMDM296452882.

Proteomic databases

PaxDbQ96KN7.
PRIDEQ96KN7.

Protocols and materials databases

DNASU57096.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000307974; ENSP00000309721; ENSG00000092200. [Q96KN7-3]
ENST00000382933; ENSP00000372391; ENSG00000092200. [Q96KN7-4]
ENST00000400017; ENSP00000382895; ENSG00000092200. [Q96KN7-1]
GeneID57096.
KEGGhsa:57096.
UCSCuc001wag.3. human. [Q96KN7-1]
uc001wai.3. human. [Q96KN7-4]
uc001wal.3. human. [Q96KN7-3]
uc010aim.3. human. [Q96KN7-2]

Organism-specific databases

CTD57096.
GeneCardsGC14P021756.
HGNCHGNC:13436. RPGRIP1.
HPAHPA042955.
MIM605446. gene.
608194. phenotype.
613826. phenotype.
neXtProtNX_Q96KN7.
Orphanet1872. Cone rod dystrophy.
65. Leber congenital amaurosis.
564. Meckel syndrome.
PharmGKBPA34657.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG117461.
HOVERGENHBG060744.
InParanoidQ96KN7.
KOK16512.
OMAAMMTKAD.
PhylomeDBQ96KN7.
TreeFamTF328883.

Gene expression databases

ArrayExpressQ96KN7.
BgeeQ96KN7.
CleanExHS_RPGRIP1.
GenevestigatorQ96KN7.

Family and domain databases

Gene3D2.60.40.150. 1 hit.
InterProIPR000008. C2_dom.
IPR021656. DUF3250.
[Graphical view]
PfamPF11618. DUF3250. 1 hit.
[Graphical view]
SMARTSM00239. C2. 1 hit.
[Graphical view]
SUPFAMSSF49562. SSF49562. 2 hits.
ProtoNetSearch...

Other

GeneWikiRPGRIP1.
GenomeRNAi57096.
NextBio62917.
PROQ96KN7.
SOURCESearch...

Entry information

Entry nameRPGR1_HUMAN
AccessionPrimary (citable) accession number: Q96KN7
Secondary accession number(s): Q7Z2W6 expand/collapse secondary AC list , Q8IXV5, Q96QA8, Q9HB94, Q9HB95, Q9HBK6, Q9NR40
Entry history
Integrated into UniProtKB/Swiss-Prot: March 1, 2004
Last sequence update: May 18, 2010
Last modified: April 16, 2014
This is version 109 of the entry and version 2 of the sequence. [Complete history]
Entry statusReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny 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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 14

Human chromosome 14: entries, gene names and cross-references to MIM