RPGRIP1

GENE INFORMATION

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Gene name

RPGRIP1 (HGNC Symbol)

Synonyms

CORD13, LCA6, RGI1, RPGRIP

Description

Retinitis pigmentosa GTPase regulator interacting protein 1 (HGNC Symbol)

Entrez gene summary

This gene encodes a photoreceptor protein that interacts with retinitis pigmentosa GTPase regulator protein and is a key component of cone and rod photoreceptor cells. Mutations in this gene lead to autosomal recessive congenital blindness. [provided by RefSeq, Oct 2008]

Chromosome

14

Cytoband

q11.2

Chromosome location (bp)

21287939 - 21351301

Protein evidence

Evidence at protein level (all genes)

Ensembl

ENSG00000092200 (version 78.38)

Entrez gene

57096

UniProt

Q96KN7 (UniProt - Evidence at protein level)

neXtProt

NX_Q96KN7

Antibodypedia

RPGRIP1 antibodies
 

PROTEIN VIEW

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RPGRIP1-001
 
RPGRIP1-002
 
RPGRIP1-006
 
RPGRIP1-008
 
RPGRIP1-009
 
RPGRIP1-010
 
RPGRIP1-011
 
RPGRIP1-012
 
 
 
 
 

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)

RPGRIP1-001 ENSP00000382895
ENST00000400017
Q96KN7
Show all »
Show » Show » 1286 146.7 No 0
RPGRIP1-002 ENSP00000372391
ENST00000382933
Q96KN7
Show all »
Show » Show » 612 70.1 No 0
RPGRIP1-006 ENSP00000452215
ENST00000557351
G3V577
Show all »
Show » 166 18.6 No 0
RPGRIP1-008 ENSP00000450426
ENST00000554303
H0YIY1
Show all »
Show » 143 16.4 No 0
RPGRIP1-009 ENSP00000451262
ENST00000555587
G3V3I7
Show all »
Show » Show » 761 87 No 0
RPGRIP1-010 ENSP00000450445
ENST00000556336
G3V236
Show all »
Show » 943 108.1 No 0
RPGRIP1-011 ENSP00000451219
ENST00000557771
G3V3F7
Show all »
Show » Show » 1248 142.8 No 0
RPGRIP1-012 ENSP00000451719
ENST00000557606
Show » 134 15.1 No 0