Seroatlas · Human Serome Atlas

RILPL1

RILP-like protein 1

Also known as: FLJ39378, RIPL1_HUMAN

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

Protein identityUniProt · HPA

UniProt accession
Q5EBL4
Gene
RILPL1
Ensembl
ENSG00000188026
Chromosome
12
Canonical length
403 aa
Protein class
Disease related genes, Human disease related genes, Predicted intracellular proteins
Subcellular location
Nucleoplasm,Plasma membrane,Primary cilium,Centrosome,Basal body,Cytosol

OverviewNCBI Gene

Predicted to enable dynein light intermediate chain binding activity and small GTPase binding activity. Predicted to be involved in several processes, including epithelial cell morphogenesis; nitric oxide mediated signal transduction; and protein transport from ciliary membrane to plasma membrane. Located in several cellular components, including cytosol; microtubule organizing center; and nucleoplasm. Implicated in oculopharyngodistal myopathy 4. [provided by Alliance of Genome Resources, Jul 2025]

Canonical amino-acid sequenceUniProt

403 residues, UniProt reviewed canonical sequence.

>Q5EBL4|RILPL1
     1  MEEERGSALA AESALEKNVA ELTVMDVYDI ASLVGHEFER VIDQHGCEAI ARLMPKVVRV
    61  LEILEVLVSR HHVAPELDEL RLELDRLRLE RMDRIEKERK HQKELELVED VWRGEAQDLL
   121  SQIAQLQEEN KQLMTNLSHK DVNFSEEEFQ KHEGMSERER QVMKKLKEVV DKQRDEIRAK
   181  DRELGLKNED VEALQQQQTR LMKINHDLRH RVTVVEAQGK ALIEQKVELE ADLQTKEQEM
   241  GSLRAELGKL RERLQGEHSQ NGEEEPETEP VGEESISDAE KVAMDLKDPN RPRFTLQELR
   301  DVLHERNELK SKVFLLQEEL AYYKSEEMEE ENRIPQPPPI AHPRTSPQPE SGIKRLFSFF
   361  SRDKKRLANT QRNVHIQESF GQWANTHRDD GYTEQGQEAL QHL

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against RILPL1 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)
0.52
Highest tissue expression
83 nTPM

Expression across tissuesHPA

Tissue

  • skeletal muscle: 83 nTPM
  • heart muscle: 59 nTPM
  • tongue: 38 nTPM
  • spinal cord: 27 nTPM
  • midbrain: 21 nTPM
  • blood vessel: 20 nTPM

Single-cell type

  • myonuclei: 355 nCPM
  • choroid plexus epithelial cells: 242 nCPM
  • cardiomyocytes: 141 nCPM
  • retinal pigment epithelial cells: 111 nCPM
  • podocytes: 108 nCPM
  • oligodendrocytes: 97 nCPM

Immune cell

  • neutrophil: 1.1 nTPM
  • naive CD4 T-cell: 0.5 nTPM
  • basophil: 0.4 nTPM
  • naive B-cell: 0.4 nTPM
  • naive CD8 T-cell: 0.4 nTPM
  • NK-cell: 0.3 nTPM

Brain region

  • white matter: 47 nTPM
  • basal ganglia: 37 nTPM
  • midbrain: 34 nTPM
  • medulla oblongata: 33 nTPM
  • cerebellum: 32 nTPM
  • cerebral cortex: 31 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about RILPL1.

Disease | AllUniProt

Conditions RILPL1 is implicated in, by any mechanism.

Disease | GeneticClinVar

1 pathogenic / likely-pathogenic of 61 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

  • Oculopharyngodistal myopathy 4

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)
0.47
gnomAD pLI
0.39
gnomAD missense Z
2.13
DepMap mean gene effect
-0.24
DepMap dependency class
selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 5% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

Molecular functions

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of RILPL1 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 RILPL1 as an antibody target. Whether an autoantibody or antibody against RILPL1 could matter depends on whether native RILPL1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

RILPL1 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 RILPL1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Canonical record: https://seroatlas.com/gene/RILPL1. Study-independent annotations aggregated from UniProt, Human Protein Atlas, PubMed, IEDB, Pfam, InterPro, Gene Ontology, AlphaFold, gnomAD, DepMap, ClinVar, TCGA. Catalog release seroatlas-reviewed-human-uniprot-20260313.

Seroatlas is the reference for exploring autoantibody and antibody serology at the human-protein level: the autoreactome and human serome, multiplex serology (HuProt, HuScan, VirScan, PhIP-Seq).

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