RPGRIP1L

GENERAL INFORMATION

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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

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RNA tissue category

HPA:Tissue enhanced (testis)
GTEx:Tissue enhanced (testis)

Protein evidence

Evidence at protein level

Protein localization

Normal tissues showed weak to moderate cytoplasmic positivity. Respiratory epithelia, lung macrophages and gall bladder were strongly stained. Pneumocytes, bile duct cells, squamous epithelia, placenta, Purkinje cells and glial cells were negative.

ANTIBODY RELIABILITY

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Data reliability
description

Pending RNA-based expert annotation.

Data reliability

Uncertain based on 1 antibody.
HPA039405
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RNA AND PROTEIN EXPRESSION SUMMARY

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RNA expression (FPKM) Protein expression (score)
Brain
Endocrine tissues
Bone marrow & immune system
Muscle tissues
Lung
Liver & gallbladder
Pancreas
Gastrointestinal tract
Kidney & urinary bladder
Male tissues
Female tissues
Adipose & soft tissue
Skin
Cerebral cortex

Lymph node

Liver

Colon

Kidney

Testis



PROTEIN EXPRESSION OVERVIEW

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Organ

Expression



RNA EXPRESSION OVERVIEW

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HPA dataset
RNA tissue category:  Tissue enhanced (testis)

Organ

Expression

GTEx dataset
RNA tissue category:  Tissue enhanced (testis)

Organ

Expression



GENE INFORMATION

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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 78.38)

Entrez gene

23322

UniProt

Q68CZ1 (UniProt - Evidence at protein level)

neXtProt

NX_Q68CZ1

Antibodypedia

RPGRIP1L antibodies


PROTEIN BROWSER

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ENST00000262135
 
ENST00000379925
 
ENST00000562230
 
ENST00000562588
 
ENST00000563746
 
ENST00000564374
 
ENST00000566096
 
ENST00000568653
 
ENST00000569716
 
ENST00000621565
 
 
 
 


PROTEIN INFORMATION

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Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

RPGRIP1L-001 ENSP00000456534
ENST00000564374
H3BS47
Show all »
Show » Show » 1253 144.8 No 0
RPGRIP1L-002 ENSP00000455451
ENST00000568653
H3BPS4
Show all »
Show » 125 14.3 No 0
RPGRIP1L-003 ENSP00000262135
ENST00000262135
Q68CZ1
Show all »
Show » Show » 1235 142.8 No 0
RPGRIP1L-005 ENSP00000455295
ENST00000562230
H3BPF5
Show all »
Show » 354 41.3 No 0
RPGRIP1L-006 ENSP00000463678
ENST00000569716
J3QLR9
Show all »
Show » 56 6.2 No 0
RPGRIP1L-007 ENSP00000457889
ENST00000563746
H3BV03
Show all »
Show » Show » 1281 147.3 No 0
RPGRIP1L-008 ENSP00000459817
ENST00000562588
I3L2P2
Show all »
Show » 122 14.1 No 0
RPGRIP1L-009 ENSP00000369257
ENST00000379925
Q68CZ1
Show all »
Show » Show » 1315 151.2 No 0
RPGRIP1L-010 ENSP00000458705
ENST00000566096
I3L1B5
Show all »
Show » 78 8.9 No 0
RPGRIP1L-201 ENSP00000480698
ENST00000621565
H3BPF5
Show all »
Show » Show » 1269 146.7 No 0