Seroatlas · Human Serome Atlas

RPGRIP1

X-linked retinitis pigmentosa GTPase regulator-interacting protein 1

Also known as: CORD13, LCA6, RGI1, RPGR1_HUMAN, RPGRIP

Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene

Protein identityUniProt · HPA

UniProt accession: Q96KN7
Gene: RPGRIP1
Ensembl: ENSG00000092200
Chromosome: 14
Canonical length: 1286 aa
Protein class: Disease related genes, Human disease related genes, Predicted intracellular proteins
Subcellular location: Vesicles,Microtubules,Cytokinetic bridge,Primary cilium,Primary cilium tip,Cytosol
Quaternary structure: Homodimer

OverviewNCBI Gene

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]

Canonical amino-acid sequenceUniProt

1286 residues, UniProt reviewed canonical sequence.

>Q96KN7|RPGRIP1
     1  MSHLVDPTSG DLPVRDIDAI PLVLPASKGK NMKTQPPLSR MNREELEDSF FRLREDHMLV
    61  KELSWKQQDE IKRLRTTLLR LTAAGRDLRV AEEAAPLSET ARRGQKAGWR QRLSMHQRPQ
   121  MHRLQGHFHC VGPASPRRAQ PRVQVGHRQL HTAGAPVPEK PKRGPRDRLS YTAPPSFKEH
   181  ATNENRGEVA SKPSELVSGS NSIISFSSVI SMAKPIGLCM PNSAHIMASN TMQVEEPPKS
   241  PEKMWPKDEN FEQRSSLECA QKAAELRASI KEKVELIRLK KLLHERNASL VMTKAQLTEV
   301  QEAYETLLQK NQGILSAAHE ALLKQVNELR AELKEESKKA VSLKSQLEDV SILQMTLKEF
   361  QERVEDLEKE RKLLNDNYDK LLESMLDSSD SSSQPHWSNE LIAEQLQQQV SQLQDQLDAE
   421  LEDKRKVLLE LSREKAQNED LKLEVTNILQ KHKQEVELLQ NAATISQPPD RQSEPATHPA
   481  VLQENTQIEP SEPKNQEEKK LSQVLNELQV SHAETTLELE KTRDMLILQR KINVCYQEEL
   541  EAMMTKADND NRDHKEKLER LTRLLDLKNN RIKQLEGILR SHDLPTSEQL KDVAYGTRPL
   601  SLCLETLPAH GDEDKVDISL LHQGENLFEL HIHQAFLTSA ALAQAGDTQP TTFCTYSFYD
   661  FETHCTPLSV GPQPLYDFTS QYVMETDSLF LHYLQEASAR LDIHQAMASE HSTLAAGWIC
   721  FDRVLETVEK VHGLATLIGA GGEEFGVLEY WMRLRFPIKP SLQACNKRKK AQVYLSTDVL
   781  GGRKAQEEEF RSESWEPQNE LWIEITKCCG LRSRWLGTQP SPYAVYRFFT FSDHDTAIIP
   841  ASNNPYFRDQ ARFPVLVTSD LDHYLRREAL SIHVFDDEDL EPGSYLGRAR VPLLPLAKNE
   901  SIKGDFNLTD PAEKPNGSIQ VQLDWKFPYI PPESFLKPEA QTKGKDTKDS SKISSEEEKA
   961  SFPSQDQMAS PEVPIEAGQY RSKRKPPHGG ERKEKEHQVV SYSRRKHGKR IGVQGKNRME
  1021  YLSLNILNGN TPEQVNYTEW KFSETNSFIG DGFKNQHEEE EMTLSHSALK QKEPLHPVND
  1081  KESSEQGSEV SEAQTTDSDD VIVPPMSQKY PKADSEKMCI EIVSLAFYPE AEVMSDENIK
  1141  QVYVEYKFYD LPLSETETPV SLRKPRAGEE IHFHFSKVID LDPQEQQGRR RFLFDMLNGQ
  1201  DPDQGHLKFT VVSDPLDEEK KECEEVGYAY LQLWQILESG RDILEQELDI VSPEDLATPI
  1261  GRLKVSLQAA AVLHAIYKEM TEDLFS

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against RPGRIP1 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability: Intracellular
Secreted: No
Transmembrane segments: 0
Mean surface accessibility (rSASA): 0.48
Highest tissue expression: 171 nTPM

Expression across tissuesHPA

Tissue

retina: 171 nTPM
testis: 55 nTPM
spleen: 1.3 nTPM
placenta: 1.1 nTPM
liver: 0.8 nTPM
bone marrow: 0.7 nTPM

Single-cell type

cone photoreceptor cells: 979 nCPM
rod photoreceptor cells: 603 nCPM
late primary spermatocytes: 184 nCPM
early spermatids: 176 nCPM
late spermatids: 132 nCPM
retinal horizontal cells: 28 nCPM

Immune cell

neutrophil: 8.8 nTPM
classical monocyte: 3.6 nTPM
myeloid DC: 3.2 nTPM
intermediate monocyte: 1.6 nTPM
total PBMC: 1 nTPM
basophil: 0.2 nTPM

Brain region

pons: 1 nTPM
white matter: 1 nTPM
cerebellum: 0.9 nTPM
medulla oblongata: 0.9 nTPM
thalamus: 0.9 nTPM
hippocampal formation: 0.8 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about RPGRIP1.

Disease | AllUniProt

Conditions RPGRIP1 is implicated in, by any mechanism.

Leber congenital amaurosis 6 (LCA6) MIM:613826
Cone-rod dystrophy 13 (CORD13) MIM:608194

Disease | GeneticClinVar

179 pathogenic / likely-pathogenic of 1,170 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Leber congenital amaurosis 6
Cone-rod dystrophy 13
Retinal dystrophy
Leber congenital amaurosis
Retinitis pigmentosa

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance): 0.88
gnomAD pLI: 0
gnomAD missense Z: 0.25
DepMap mean gene effect: 0.01
DepMap dependency class: none

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of RPGRIP1 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads RPGRIP1 as an antibody target. Whether an autoantibody or antibody against RPGRIP1 could matter depends on whether native RPGRIP1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

RPGRIP1 is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.

Annotation status

The present source text does not explicitly label RPGRIP1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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