RPGRIP1L

GENE INFORMATION

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Gene name

RPGRIP1L (HGNC Symbol)

Synonyms

CORS3, FTM, JBTS7, KIAA1005, MKS5, NPHP8

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 (Chromosome progress)

Cytoband

q12.2

Chromosome location (bp)

53631595 - 53737850

Ensembl

ENSG00000103494 (version 73.37)

Entrez gene

23322

UniProt

Q68CZ1 (UniProt - Evidence at protein level)

neXtProt

NX_Q68CZ1

Antibodypedia

RPGRIP1L antibodies
 

PROTEIN VIEW

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RPGRIP1L-001
 
RPGRIP1L-002
 
RPGRIP1L-003
 
RPGRIP1L-005
 
RPGRIP1L-006
 
RPGRIP1L-007
 
RPGRIP1L-008
 
RPGRIP1L-009
 
RPGRIP1L-010
 
 
 
 
 

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 » 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 » 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 » 1281 147.3 No 0
RPGRIP1L-008 ENSP00000459817
ENST00000562588
I3L2P2
Show all »
Show » 122 14.1 No 0
RPGRIP1L-009 ENSP00000369257
ENST00000379925
Q68CZ1
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Show » 1315 151.2 No 0
RPGRIP1L-010 ENSP00000458705
ENST00000566096
I3L1B5
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Show » 78 8.9 No 0