Seroatlas · Human Serome Atlas

OCRL

Inositol polyphosphate 5-phosphatase OCRL

Also known as: Dent-2, OCRL_HUMAN, OCRL1

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

Protein identityUniProt · HPA

UniProt accession
Q01968
Gene
OCRL
Ensembl
ENSG00000122126
Chromosome
X
Canonical length
901 aa
Protein class
Disease related genes, Enzymes, Human disease related genes, Metabolic proteins, Potential drug targets, Predicted intracellular proteins
Subcellular location
Microtubules,Primary cilium,Centriolar satellite,Basal body,Cytosol

OverviewNCBI Gene

This gene encodes an inositol polyphosphate 5-phosphatase. This protein is involved in regulating membrane trafficking and is located in numerous subcellular locations including the trans-Golgi network, clathrin-coated vesicles and, endosomes and the plasma membrane. This protein may also play a role in primary cilium formation. Mutations in this gene cause oculocerebrorenal syndrome of Lowe and also Dent disease. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jan 2016]

Canonical amino-acid sequenceUniProt

901 residues, UniProt reviewed canonical sequence.

>Q01968|OCRL
     1  MEPPLPVGAQ PLATVEGMEM KGPLREPCAL TLAQRNGQYE LIIQLHEKEQ HVQDIIPINS
    61  HFRCVQEAEE TLLIDIASNS GCKIRVQGDW IRERRFEIPD EEHCLKFLSA VLAAQKAQSQ
   121  LLVPEQKDSS SWYQKLDTKD KPSVFSGLLG FEDNFSSMNL DKKINSQNQP TGIHREPPPP
   181  PFSVNKMLPR EKEASNKEQP KVTNTMRKLF VPNTQSGQRE GLIKHILAKR EKEYVNIQTF
   241  RFFVGTWNVN GQSPDSGLEP WLNCDPNPPD IYCIGFQELD LSTEAFFYFE SVKEQEWSMA
   301  VERGLHSKAK YKKVQLVRLV GMMLLIFARK DQCRYIRDIA TETVGTGIMG KMGNKGGVAV
   361  RFVFHNTTFC IVNSHLAAHV EDFERRNQDY KDICARMSFV VPNQTLPQLN IMKHEVVIWL
   421  GDLNYRLCMP DANEVKSLIN KKDLQRLLKF DQLNIQRTQK KAFVDFNEGE IKFIPTYKYD
   481  SKTDRWDSSG KCRVPAWCDR ILWRGTNVNQ LNYRSHMELK TSDHKPVSAL FHIGVKVVDE
   541  RRYRKVFEDS VRIMDRMEND FLPSLELSRR EFVFENVKFR QLQKEKFQIS NNGQVPCHFS
   601  FIPKLNDSQY CKPWLRAEPF EGYLEPNETV DISLDVYVSK DSVTILNSGE DKIEDILVLH
   661  LDRGKDYFLT ISGNYLPSCF GTSLEALCRM KRPIREVPVT KLIDLEEDSF LEKEKSLLQM
   721  VPLDEGASER PLQVPKEIWL LVDHLFKYAC HQEDLFQTPG MQEELQQIID CLDTSIPETI
   781  PGSNHSVAEA LLIFLEALPE PVICYELYQR CLDSAYDPRI CRQVISQLPR CHRNVFRYLM
   841  AFLRELLKFS EYNSVNANMI ATLFTSLLLR PPPNLMARQT PSDRQRAIQF LLGFLLGSEE
   901  D

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against OCRL 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
Other membrane
Secreted
No
Transmembrane segments
0
Mean surface accessibility (rSASA)
0.31
Highest tissue expression
35 nTPM

Expression across tissuesHPA

Tissue

  • parathyroid gland: 35 nTPM
  • choroid plexus: 28 nTPM
  • ovary: 24 nTPM
  • seminal vesicle: 22 nTPM
  • testis: 22 nTPM
  • urinary bladder: 21 nTPM

Single-cell type

  • choroid plexus epithelial cells: 97 nCPM
  • sertoli cells: 89 nCPM
  • retinal pigment epithelial cells: 55 nCPM
  • thyrotrophs: 54 nCPM
  • adrenal medulla cells: 53 nCPM
  • peritubular myoid cells: 52 nCPM

Immune cell

  • non-classical monocyte: 3.7 nTPM
  • myeloid DC: 1.2 nTPM
  • intermediate monocyte: 1.1 nTPM
  • classical monocyte: 1 nTPM
  • plasmacytoid DC: 0.4 nTPM
  • total PBMC: 0.4 nTPM

Brain region

  • choroid plexus: 64 nTPM
  • hypothalamus: 47 nTPM
  • pons: 42 nTPM
  • midbrain: 34 nTPM
  • cerebral cortex: 33 nTPM
  • thalamus: 33 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about OCRL.

Disease | AllUniProt

Conditions OCRL is implicated in, by any mechanism.

Disease | GeneticClinVar

149 pathogenic / likely-pathogenic of 1,068 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

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)
0.16
gnomAD pLI
1
gnomAD missense Z
2.96
DepMap mean gene effect
-0.01
DepMap dependency class
selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 6% 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 OCRL 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 OCRL as an antibody target. Whether an autoantibody or antibody against OCRL could matter depends on whether native OCRL is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

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

Canonical record: https://seroatlas.com/gene/OCRL. 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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