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RPGRIP1L

GENERAL INFORMATION

Gene name

 RPGRIP1L

Gene description

 RPGRIP1-like

Protein class

 Disease related genes
Predicted intracellular proteins

Predicted localization

 Intracellular

Number of transcripts

 10
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HUMAN PROTEIN ATLAS INFORMATION

RNA tissue category
HPA:Tissue enhanced (testis)
GTEx:Mixed
FANTOM5:Expressed in all

Protein evidence

 Evidence at protein level

Protein expression

 Cytoplasmic expression in most tissues.

DATA RELIABILITY

Data reliability
description

 Caution, Splice and/or transcript discrepancy exists. Pending external verification.

Reliability score

 Uncertain based on 1 antibody.
HPA039405
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RNA AND PROTEIN EXPRESSION SUMMARY
RNA expression (TPM) Protein expression (score)
Brain
Caudate
N/A
Endocrine tissues
Bone marrow & immune system
Muscle tissues
Lung
Bronchus
N/A
Liver & gallbladder
Pancreas
Gastrointestinal tract
Kidney & urinary bladder
Male tissues
Female tissues
Vagina
N/A
Adipose & soft tissue
Skin
Cerebral cortex

Lymph node

Liver

Colon

Kidney

Testis

PROTEIN EXPRESSION OVERVIEW
Organ
Expression
Alphabetical

RNA EXPRESSION OVERVIEW
HPA dataset
Organ
Expression
Alphabetical
RNA tissue category: Tissue enhanced (testis)
GTEx dataset
Organ
Expression
Alphabetical
RNA tissue category: Mixed
FANTOM5 dataset
Organ
Expression
Alphabetical
RNA tissue category: Expressed in all

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
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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]
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 125 aa
14.3 kDa 		No 0
RPGRIP1L-003
ENSP00000262135
ENST00000262135
Q68CZ1 [Direct mapping]
Protein fantom
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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]
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 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]
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 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)
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GO:0001736 [establishment of planar polarity]
Show all
 56 aa
6.2 kDa 		No 0
RPGRIP1L-007
ENSP00000457889
ENST00000563746
H3BV03 [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]
GO:0005515 [protein binding]
Show all
 1281 aa
147.3 kDa 		No 0
RPGRIP1L-008
ENSP00000459817
ENST00000562588
I3L2P2 [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
 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]
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 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]
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 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.