Proteins/UNIPROT:Q96KN7

RPGRIP1

ProteinUNIPROT:Q96KN7

May function as scaffolding protein. Required for normal location of RPGR at the connecting cilium of photoreceptor cells. Required for normal disk morphogenesis and disk organization in the outer segment of photoreceptor cells and for survival of photoreceptor cells..

Function from UniProtKB (Q96KN7), read 2026-09-23. CC BY 4.0.

Curated compounds routed: 0

What the reference databases state

GenCC submitters' classifications

4 rows

cone-rod dystrophy has a germline basis in RPGRIP1DiseaseGenCC HGNC:13436|MONDO:0015993Inferred only
cone-rod dystrophy 13 has a germline basis in RPGRIP1DiseaseGenCC HGNC:13436|MONDO:0011987Inferred only
Leber congenital amaurosis has a germline basis in RPGRIP1DiseaseGenCC HGNC:13436|MONDO:0018998Inferred only
Leber congenital amaurosis 6 has a germline basis in RPGRIP1DiseaseGenCC HGNC:13436|MONDO:0013446Inferred only

Statements

16 statements

16 statements · 2 reference databases · Subject: RPGRIP1 · Sources: Hetionet, WikiPathways

Order

ARMH4 covaries with RPGRIP1ProteinHetionet hetionet:covaries:145407-57096Inferred only
BRCA1 covaries with RPGRIP1ProteinHetionet hetionet:covaries:57096-672Inferred only
CCDC198 covaries with RPGRIP1ProteinHetionet hetionet:covaries:55195-57096Inferred only
CDC25C covaries with RPGRIP1ProteinHetionet hetionet:covaries:57096-995Inferred only
FAM185A covaries with RPGRIP1ProteinHetionet hetionet:covaries:222234-57096Inferred only
FAM228A covaries with RPGRIP1ProteinHetionet hetionet:covaries:57096-653140Inferred only
KIAA0408 covaries with RPGRIP1ProteinHetionet hetionet:covaries:57096-9729Inferred only
NCOA7 covaries with RPGRIP1ProteinHetionet hetionet:covaries:135112-57096Inferred only
PPAN covaries with RPGRIP1ProteinHetionet hetionet:covaries:57096-692312Inferred only
SPAG5 covaries with RPGRIP1ProteinHetionet hetionet:covaries:10615-57096Inferred only
SPATA31H1 covaries with RPGRIP1ProteinHetionet hetionet:covaries:57096-84226Inferred only
TMSB15A covaries with RPGRIP1ProteinHetionet hetionet:covaries:286527-57096Inferred only

Show the remaining 4

XIRP2 covaries with RPGRIP1ProteinHetionet hetionet:covaries:129446-57096Inferred only
RPGRIP1 interacts with NPHP4ProteinHetionet hetionet:interacts:261734-57096Inferred only
RPGR interacts with RPGRIP1ProteinHetionet hetionet:interacts:57096-6103Inferred only
RPGRIP1 participates in CiliopathiesPathwayWikiPathways WP4803Inferred only

Other names

2 names

Resolves to: RPGRIP1

Also called: RPGR-interacting protein 1X-linked retinitis pigmentosa GTPase regulator-interacting protein 1

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