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RPGRIP1 retinitis pigmentosa GTPase regulator interacting protein 1 [Homo sapiens (human)]


RefSeq Accession Definition Services Price Order
NM_020366 Homo sapiens retinitis pigmentosa GTPase regulator interacting protein 1 (RPGRIP1), mRNA. ORF Sequence $1351.35
Peptide Services
Antibody Services
Protein Services


Gene Symbol RPGRIP1
Entrez Gene ID 57096
Full Name retinitis pigmentosa GTPase regulator interacting protein 1
Synonyms CORD13, DKFZp686P0897, LCA6, RGI1, RGRIP, RPGRIP, RPGRIP1d
Gene Type protein-coding
Organism Homo sapiens (human)
Genome

14

14q11

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].
Disorder

MIM: 605446

Leber congenital amaurosis 6 (3); Cone-rod dystrophy 13, 608194 (3)

mRNA Protein Product Sequence Price Select
NM_020366, 112734866 NP_065099, 112734867 X-linked retinitis pigmentosa GTPase regulator-interacting protein 1 Full Length $1382.50
ORF Sequence $1351.35
Homo sapiens (human)RPGRIP1NP_065099.3
Pan troglodytes (chimpanzee)RPGRIP1XP_528702.4
Macaca mulatta (Rhesus monkey)LOC707961XP_002808500.1
Canis lupus familiaris (dog)RPGRIP1XP_851597.2
Bos taurus (cattle)RPGRIP1NP_851377.1
Mus musculus (house mouse)Rpgrip1NP_001161987.1
GeneCards RPGRIP1
UniProt Q96KN7
MIM 605446
Ensembl ENSG00000092200
HGNC 13436
HPRD 05673

GeneRIFs: Gene References Into Functions What's a GeneRIF?

General protein information

Preferred Names
X-linked retinitis pigmentosa GTPase regulator-interacting protein 1
Names
X-linked retinitis pigmentosa GTPase regulator-interacting protein 1
RPGR-interacting protein 1

Interactant

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