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RPGRIP1L

CANCER ATLAS

Gene description

 RPGRIP1-like

Protein class

 Disease related genes, Predicted intracellular proteins

Protein evidence

 Evidence at protein level
Colorectal cancer
Breast cancer
Prostate cancer
Lung cancer
Liver cancer

STAINING SUMMARY
HPA039405

GENE INFORMATION

Gene name

 RPGRIP1L (HGNC Symbol)

Synonyms

 CORS3, FTM, JBTS7, KIAA1005, MKS5, NPHP8, PPP1R134

Description

 RPGRIP1-like (HGNC Symbol)

Entrez gene summary

 The protein encoded by this gene can localize to the basal body-centrosome complex or to primary cilia and centrosomes in ciliated cells. The encoded protein has been found to interact with nephrocystin-4. Defects in this gene are a cause of Joubert syndrome type 7 (JBTS7) and Meckel syndrome type 5 (MKS5). Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

Chromosome

 16

Cytoband

 q12.2

Chromosome location (bp)

 53597683 - 53703938

Protein evidence

 Evidence at protein level (all genes)

Ensembl

 ENSG00000103494 (version 83.38)

Entrez gene

 23322

UniProt

 Q68CZ1 (UniProt - Evidence at protein level)

neXtProt

 NX_Q68CZ1

Antibodypedia

 RPGRIP1L antibodies

PROTEIN BROWSER
RPGRIP1L-001
RPGRIP1L-002
RPGRIP1L-003
RPGRIP1L-005
RPGRIP1L-006
RPGRIP1L-007
RPGRIP1L-008
RPGRIP1L-009
RPGRIP1L-010
RPGRIP1L-201

PROTEIN INFORMATION

Splice variant

UniProt

Protein class

Gene ontology

Length & mass

Signal peptide
(predicted)

Transmembrane regions
(predicted)
RPGRIP1L-001
ENSP00000456534
ENST00000564374
H3BS47 [Direct mapping]
Protein fantom
Show all
Predicted intracellular proteins
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0001736 [establishment of planar polarity]
GO:0005515 [protein binding]
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 1253 aa
144.8 kDa 		No 0
RPGRIP1L-002
ENSP00000455451
ENST00000568653
H3BPS4 [Direct mapping]
Protein fantom
Show all
Predicted intracellular proteins
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0001736 [establishment of planar polarity]
Show all
 125 aa
14.3 kDa 		No 0
RPGRIP1L-003
ENSP00000262135
ENST00000262135
Q68CZ1 [Direct mapping]
Protein fantom
Show all
Predicted intracellular proteins
Disease related genes
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0005515 [protein binding]
GO:0005737 [cytoplasm]
GO:0005813 [centrosome]
GO:0005829 [cytosol]
GO:0005911 [cell-cell junction]
GO:0005923 [bicellular tight junction]
GO:0005929 [cilium]
GO:0005930 [axoneme]
GO:0006996 [organelle organization]
GO:0031870 [thromboxane A2 receptor binding]
GO:0036064 [ciliary basal body]
GO:0045744 [negative regulation of G-protein coupled receptor protein signaling pathway]
Show all
 1235 aa
142.8 kDa 		No 0
RPGRIP1L-005
ENSP00000455295
ENST00000562230
H3BPF5 [Direct mapping]
Protein fantom
Show all
Predicted intracellular proteins
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0001736 [establishment of planar polarity]
Show all
 354 aa
41.3 kDa 		No 0
RPGRIP1L-006
ENSP00000463678
ENST00000569716
J3QLR9 [Direct mapping]
Protein fantom
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Predicted intracellular proteins
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0001736 [establishment of planar polarity]
Show all
 56 aa
6.2 kDa 		No 0
RPGRIP1L-007
ENSP00000457889
ENST00000563746
H3BV03 [Direct mapping]
Protein fantom
Show all
Predicted intracellular proteins
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0001736 [establishment of planar polarity]
GO:0005515 [protein binding]
Show all
 1281 aa
147.3 kDa 		No 0
RPGRIP1L-008
ENSP00000459817
ENST00000562588
I3L2P2 [Direct mapping]
Protein fantom
Show all
Predicted intracellular proteins
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0001736 [establishment of planar polarity]
Show all
 122 aa
14.1 kDa 		No 0
RPGRIP1L-009
ENSP00000369257
ENST00000379925
Q68CZ1 [Direct mapping]
Protein fantom
Show all
Predicted intracellular proteins
Disease related genes
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0001701 [in utero embryonic development]
GO:0001736 [establishment of planar polarity]
GO:0001822 [kidney development]
GO:0001889 [liver development]
GO:0005515 [protein binding]
GO:0005737 [cytoplasm]
GO:0005813 [centrosome]
GO:0005829 [cytosol]
GO:0005911 [cell-cell junction]
GO:0005923 [bicellular tight junction]
GO:0005929 [cilium]
GO:0005930 [axoneme]
GO:0006996 [organelle organization]
GO:0007163 [establishment or maintenance of cell polarity]
GO:0007368 [determination of left/right symmetry]
GO:0007420 [brain development]
GO:0008589 [regulation of smoothened signaling pathway]
GO:0021532 [neural tube patterning]
GO:0021537 [telencephalon development]
GO:0021549 [cerebellum development]
GO:0021670 [lateral ventricle development]
GO:0021772 [olfactory bulb development]
GO:0022038 [corpus callosum development]
GO:0031870 [thromboxane A2 receptor binding]
GO:0035108 [limb morphogenesis]
GO:0035115 [embryonic forelimb morphogenesis]
GO:0035116 [embryonic hindlimb morphogenesis]
GO:0035869 [ciliary transition zone]
GO:0036064 [ciliary basal body]
GO:0042384 [cilium assembly]
GO:0043010 [camera-type eye development]
GO:0043584 [nose development]
GO:0045744 [negative regulation of G-protein coupled receptor protein signaling pathway]
GO:0060039 [pericardium development]
GO:0060271 [cilium morphogenesis]
GO:0060322 [head development]
GO:0090102 [cochlea development]
Show all
 1315 aa
151.2 kDa 		No 0
RPGRIP1L-010
ENSP00000458705
ENST00000566096
I3L1B5 [Direct mapping]
Protein fantom
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Predicted intracellular proteins
Protein evidence (Ezkurdia et al 2014)
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GO:0001736 [establishment of planar polarity]
Show all
 78 aa
8.9 kDa 		No 0
RPGRIP1L-201
ENSP00000480698
ENST00000621565
A0A087WX34 [Direct mapping]
Protein fantom
Show all
Predicted intracellular proteins
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0001736 [establishment of planar polarity]
GO:0005515 [protein binding]
Show all
 1269 aa
146.7 kDa 		No 0

Contact

The Project

The Human Protein Atlas

The Human Protein Atlas project is funded
by the Knut & Alice Wallenberg foundation.