Seroatlas · Human Serome Atlas

RPGRIP1L

Protein fantom

Also known as: CORS3, FTM, FTM_HUMAN, JBTS7, KIAA1005, MKS5, NPHP8, PPP1R134

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

Protein identityUniProt · HPA

UniProt accession: Q68CZ1
Gene: RPGRIP1L
Ensembl: ENSG00000103494
Chromosome: 16
Canonical length: 1315 aa
Protein class: Disease related genes, Human disease related genes, Predicted intracellular proteins
Subcellular location: Plasma membrane,Basal body,Cytosol

OverviewNCBI Gene

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). [provided by RefSeq, Jun 2016]

Canonical amino-acid sequenceUniProt

1315 residues, UniProt reviewed canonical sequence.

>Q68CZ1|RPGRIP1L
     1  MSGPTDETAG DLPVKDTGLN LFGMGGLQET STTRTMKSRQ AVSRVSREEL EDRFLRLHDE
    61  NILLKQHARK QEDKIKRMAT KLIRLVNDKK RYERVGGGPK RLGRDVEMEE MIEQLQEKVH
   121  ELEKQNETLK NRLISAKQQL QTQGYRQTPY NNVQSRINTG RRKANENAGL QECPRKGIKF
   181  QDADVAETPH PMFTKYGNSL LEEARGEIRN LENVIQSQRG QIEELEHLAE ILKTQLRRKE
   241  NEIELSLLQL REQQATDQRS NIRDNVEMIK LHKQLVEKSN ALSAMEGKFI QLQEKQRTLR
   301  ISHDALMANG DELNMQLKEQ RLKCCSLEKQ LHSMKFSERR IEELQDRIND LEKERELLKE
   361  NYDKLYDSAF SAAHEEQWKL KEQQLKVQIA QLETALKSDL TDKTEILDRL KTERDQNEKL
   421  VQENRELQLQ YLEQKQQLDE LKKRIKLYNQ ENDINADELS EALLLIKAQK EQKNGDLSFL
   481  VKVDSEINKD LERSMRELQA THAETVQELE KTRNMLIMQH KINKDYQMEV EAVTRKMENL
   541  QQDYELKVEQ YVHLLDIRAA RIHKLEAQLK DIAYGTKQYK FKPEIMPDDS VDEFDETIHL
   601  ERGENLFEIH INKVTFSSEV LQASGDKEPV TFCTYAFYDF ELQTTPVVRG LHPEYNFTSQ
   661  YLVHVNDLFL QYIQKNTITL EVHQAYSTEY ETIAACQLKF HEILEKSGRI FCTASLIGTK
   721  GDIPNFGTVE YWFRLRVPMD QAIRLYRERA KALGYITSNF KGPEHMQSLS QQAPKTAQLS
   781  STDSTDGNLN ELHITIRCCN HLQSRASHLQ PHPYVVYKFF DFADHDTAII PSSNDPQFDD
   841  HMYFPVPMNM DLDRYLKSES LSFYVFDDSD TQENIYIGKV NVPLISLAHD RCISGIFELT
   901  DHQKHPAGTI HVILKWKFAY LPPSGSITTE DLGNFIRSEE PEVVQRLPPA SSVSTLVLAP
   961  RPKPRQRLTP VDKKVSFVDI MPHQSDETSP PPEDRKEISP EVEHIPEIEI NMLTVPHVPK
  1021  VSQEGSVDEV KENTEKMQQG KDDVSLLSEG QLAEQSLASS EDETEITEDL EPEVEEDMSA
  1081  SDSDDCIIPG PISKNIKQSL ALSPGLGCSS AISAHCNFRL PGSSDFPASA SQVDGITGAC
  1141  HHTQPSEKIR IEIIALSLND SQVTMDDTIQ RLFVECRFYS LPAEETPVSL PKPKSGQWVY
  1201  YNYSNVIYVD KENNKAKRDI LKAILQKQEM PNRSLRFTVV SDPPEDEQDL ECEDIGVAHV
  1261  DLADMFQEGR DLIEQNIDVF DARADGEGIG KLRVTVEALH ALQSVYKQYR DDLEA

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against RPGRIP1L 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: Cell surface
Secreted: No
Transmembrane segments: 0
Mean surface accessibility (rSASA): 0.47
Highest tissue expression: 13 nTPM

Expression across tissuesHPA

Tissue

testis: 13 nTPM
parathyroid gland: 7.2 nTPM
fallopian tube: 6.3 nTPM
cerebral cortex: 5.3 nTPM
pituitary gland: 4.3 nTPM
thyroid gland: 4.2 nTPM

Single-cell type

ependymal cells: 271 nCPM
respiratory ciliated cells: 177 nCPM
thyrotrophs: 103 nCPM
somatotrophs: 99 nCPM
choroid plexus epithelial cells: 98 nCPM
lactotrophs: 95 nCPM

Immune cell

naive CD8 T-cell: 1.8 nTPM
naive B-cell: 1.5 nTPM
gdT-cell: 1.2 nTPM
MAIT T-cell: 1.2 nTPM
memory B-cell: 1.1 nTPM
memory CD8 T-cell: 1 nTPM

Brain region

choroid plexus: 31 nTPM
cerebral cortex: 21 nTPM
hypothalamus: 17 nTPM
midbrain: 17 nTPM
white matter: 16 nTPM
medulla oblongata: 16 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about RPGRIP1L.

Disease | AllUniProt

Conditions RPGRIP1L is implicated in, by any mechanism.

Joubert syndrome 7 (JBTS7) MIM:611560
Meckel syndrome 5 (MKS5) MIM:611561
COACH syndrome 3 (COACH3) MIM:619113

Disease | GeneticClinVar

336 pathogenic / likely-pathogenic of 2,131 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Joubert syndrome
Meckel-Gruber syndrome
Joubert syndrome 7
Meckel syndrome, type 5
COACH syndrome 3

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): 0.96
gnomAD pLI: 0
gnomAD missense Z: -0.11
DepMap mean gene effect: 0.08
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

Molecular functions

thromboxane A2 receptor binding

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of RPGRIP1L 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 RPGRIP1L as an antibody target. Whether an autoantibody or antibody against RPGRIP1L could matter depends on whether native RPGRIP1L is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

RPGRIP1L is annotated at the cell surface, where native RPGRIP1L is exposed to circulating antibodies and is a prime autoantibody target that could block, deplete, or overstimulate it.

Annotation status

The present source text does not explicitly label RPGRIP1L as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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