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OCRL OCRL inositol polyphosphate-5-phosphatase [ Homo sapiens (human) ]

Gene ID: 4952, updated on 3-Nov-2024

Summary

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Official Symbol
OCRLprovided by HGNC
Official Full Name
OCRL inositol polyphosphate-5-phosphataseprovided by HGNC
Primary source
HGNC:HGNC:8108
See related
Ensembl:ENSG00000122126 MIM:300535; AllianceGenome:HGNC:8108
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
LOCR; DENT2; NPHL2; OCRL1; Dent-2; INPP5F; OCRL-1
Summary
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]
Expression
Broad expression in testis (RPKM 21.7), adrenal (RPKM 15.8) and 25 other tissues See more
Orthologs
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Genomic context

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See OCRL in Genome Data Viewer
Location:
Xq26.1
Exon count:
24
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) X NC_000023.11 (129540259..129592556)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) X NC_060947.1 (127859040..127911341)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (128674236..128726533)

Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene RNA, 5S ribosomal pseudogene 513 Neighboring gene SNF2 related chromatin remodeling ATPase 1 Neighboring gene small nucleolar RNA SNORD112 Neighboring gene Sharpr-MPRA regulatory region 13828 Neighboring gene NANOG hESC enhancer GRCh37_chrX:128698883-128699384 Neighboring gene H3K4me1 hESC enhancer GRCh37_chrX:128734568-128735068 Neighboring gene H3K4me1 hESC enhancer GRCh37_chrX:128735069-128735569 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20975 Neighboring gene H3K4me1 hESC enhancer GRCh37_chrX:128783429-128783930 Neighboring gene H3K4me1 hESC enhancer GRCh37_chrX:128783931-128784430 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29915 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20976 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20977 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29916 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29917 Neighboring gene Sharpr-MPRA regulatory region 14523 Neighboring gene apelin Neighboring gene uncharacterized LOC105373334 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29918 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20978

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. Duplication of OCRL and adjacent genes associated with autism but not Lowe syndrome. Schroer RJ, et al. Am J Med Genet A, 2012 Oct. PMID 22965764, Free PMC Article
  2. Lowe Syndrome. Adam MP, et al. , 1993. PMID 20301653
  3. Bleeding disorders in Lowe syndrome patients: evidence for a link between OCRL mutations and primary haemostasis disorders. Lasne D, et al. Br J Haematol, 2010 Sep. PMID 20629659
  4. From Lowe syndrome to Dent disease: correlations between mutations of the OCRL1 gene and clinical and biochemical phenotypes. Hichri H, et al. Hum Mutat, 2011 Apr. PMID 21031565
  5. Maternal de novo triple mosaicism for two single OCRL nucleotide substitutions (c.1736A>T, c.1736A>G) in a Lowe syndrome family. Draaken M, et al. Hum Genet, 2011 May. PMID 21225285

See all (165) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Clinical features and genetic analysis of 15 Chinese children with dent disease.
    Title: Clinical features and genetic analysis of 15 Chinese children with dent disease.
  2. Atypical phenotypes and novel OCRL variations in southern Chinese patients with Lowe syndrome.
    Title: Atypical phenotypes and novel OCRL variations in southern Chinese patients with Lowe syndrome.
  3. OCRL1 Deficiency Affects the Intracellular Traffic of ApoER2 and Impairs Reelin-Induced Responses.
    Title: OCRL1 Deficiency Affects the Intracellular Traffic of ApoER2 and Impairs Reelin-Induced Responses.
  4. Novel pathogenic OCRL mutations and genotype-phenotype analysis of Chinese children affected by oculocerebrorenal syndrome: two cases and a literature review.
    Title: Novel pathogenic OCRL mutations and genotype-phenotype analysis of Chinese children affected by oculocerebrorenal syndrome: two cases and a literature review.
  5. Oculocerebrorenal syndrome of Lowe (OCRL) controls leukemic T-cell survival by preventing excessive PI(4,5)P2 hydrolysis in the plasma membrane.
    Title: Oculocerebrorenal syndrome of Lowe (OCRL) controls leukemic T-cell survival by preventing excessive PI(4,5)P(2) hydrolysis in the plasma membrane.
  6. Heterogeneity in Lowe Syndrome: Mutations Affecting the Phosphatase Domain of OCRL1 Differ in Impact on Enzymatic Activity and Severity of Cellular Phenotypes.
    Title: Heterogeneity in Lowe Syndrome: Mutations Affecting the Phosphatase Domain of OCRL1 Differ in Impact on Enzymatic Activity and Severity of Cellular Phenotypes.
  7. Genotype-Phenotype Correlation Reanalysis in 83 Chinese Cases with OCRL Mutations.
    Title: Genotype-Phenotype Correlation Reanalysis in 83 Chinese Cases with OCRL Mutations.
  8. Identification of novel OCRL isoforms associated with phenotypic differences between Dent disease-2 and Lowe syndrome.
    Title: Identification of novel OCRL isoforms associated with phenotypic differences between Dent disease-2 and Lowe syndrome.
  9. SdhA blocks disruption of the Legionella-containing vacuole by hijacking the OCRL phosphatase.
    Title: SdhA blocks disruption of the Legionella-containing vacuole by hijacking the OCRL phosphatase.
  10. Genotype Phenotype Correlation in Dent Disease 2 and Review of the Literature: OCRL Gene Pleiotropism or Extreme Phenotypic Variability of Lowe Syndrome?
    Title: Genotype Phenotype Correlation in Dent Disease 2 and Review of the Literature: OCRL Gene Pleiotropism or Extreme Phenotypic Variability of Lowe Syndrome?
Submit: New GeneRIF Correction See all GeneRIFs (83)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description Tests
Dent disease type 2
MedGen: C1845167 OMIM: 300555 GeneReviews: Dent Disease
Compare labs
Lowe syndrome
MedGen: C0028860 OMIM: 309000 GeneReviews: Lowe Syndrome
Compare labs

Copy number response

Description
Copy number response
Triplosensitivity

No evidence available (Last evaluated 2021-01-12)

ClinGen Genome Curation Page
Haploinsufficency

Sufficient evidence for dosage pathogenicity (Last evaluated 2021-01-12)

ClinGen Genome Curation PagePubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables GTPase activator activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables inositol phosphate phosphatase activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables inositol phosphate phosphatase activity NAS
Non-traceable Author Statement
more info
 PubMed 
enables inositol-1,3,4,5-tetrakisphosphate 5-phosphatase activity IEA
Inferred from Electronic Annotation
more info
  
enables inositol-1,4,5-trisphosphate 5-phosphatase activity TAS
Traceable Author Statement
more info
  
enables inositol-polyphosphate 5-phosphatase activity IEA
Inferred from Electronic Annotation
more info
  
enables phosphatidylinositol phosphate 4-phosphatase activity TAS
Traceable Author Statement
more info
  
enables phosphatidylinositol-3,4,5-trisphosphate 5-phosphatase activity IEA
Inferred from Electronic Annotation
more info
  
enables phosphatidylinositol-3,5-bisphosphate 5-phosphatase activity TAS
Traceable Author Statement
more info
  
enables phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity TAS
Traceable Author Statement
more info
  
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables small GTPase binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Process Evidence Code Pubs
involved_in cilium assembly IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in in utero embryonic development IEA
Inferred from Electronic Annotation
more info
  
involved_in inositol phosphate metabolic process TAS
Traceable Author Statement
more info
  
involved_in lipid metabolic process NAS
Non-traceable Author Statement
more info
 PubMed 
involved_in membrane organization TAS
Traceable Author Statement
more info
  
involved_in phosphatidylinositol biosynthetic process TAS
Traceable Author Statement
more info
  
involved_in phosphatidylinositol-3-phosphate biosynthetic process IEA
Inferred from Electronic Annotation
more info
  
involved_in signal transduction IEA
Inferred from Electronic Annotation
more info
  
Component Evidence Code Pubs
located_in Golgi stack TAS
Traceable Author Statement
more info
 PubMed 
located_in Golgi-associated vesicle TAS
Traceable Author Statement
more info
 PubMed 
located_in clathrin-coated pit IEA
Inferred from Electronic Annotation
more info
  
located_in clathrin-coated vesicle IDA
Inferred from Direct Assay
more info
 PubMed 
is_active_in cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in cytoplasm IDA
Inferred from Direct Assay
more info
 PubMed 
located_in cytosol TAS
Traceable Author Statement
more info
  
located_in early endosome IDA
Inferred from Direct Assay
more info
 PubMed 
located_in early endosome membrane IEA
Inferred from Electronic Annotation
more info
  
located_in lysosome IEA
Inferred from Electronic Annotation
more info
  
is_active_in membrane IBA
Inferred from Biological aspect of Ancestor
more info
  
is_active_in neuron projection IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in nucleus IDA
Inferred from Direct Assay
more info
 PubMed 
located_in phagocytic vesicle membrane IEA
Inferred from Electronic Annotation
more info
  
located_in photoreceptor outer segment IDA
Inferred from Direct Assay
more info
 PubMed 
located_in plasma membrane IDA
Inferred from Direct Assay
more info
 PubMed 
located_in trans-Golgi network IDA
Inferred from Direct Assay
more info
 PubMed 

General protein information

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Preferred Names
inositol polyphosphate 5-phosphatase OCRL
Names
Lowe oculocerebrorenal syndrome protein
inositol polyphosphate 5-phosphatase OCRL-1
oculocerebrorenal syndrome of Lowe
phosphatidylinositol 3,4,5-triphosphate 5-phosphatase
phosphatidylinositol polyphosphate 5-phosphatase
NP_000267.2
NP_001305713.1
NP_001578.2

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_008638.1 RefSeqGene

    Range
    4985..57282
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_000276.4 → NP_000267.2  inositol polyphosphate 5-phosphatase OCRL isoform a

    See identical proteins and their annotated locations for NP_000267.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (a) encodes isoform (a).
    Source sequence(s)
    AL022162, AL138745, AL662877
    Consensus CDS
    CCDS35393.1
    UniProtKB/Swiss-Prot
    A6NKI1, A8KAP2, B7ZLX2, O60800, Q01968, Q15684, Q15774, Q4VY09, Q4VY10, Q5JQF1, Q5JQF2, Q9UJG5, Q9UMA5
    UniProtKB/TrEMBL
    Q504W7
    Related
    ENSP00000360154.4, ENST00000371113.9
    Conserved Domains (3) summary
    cd09093
    Location:240 → 533
    INPP5c_INPP5B; Catalytic inositol polyphosphate 5-phosphatase (INPP5c) domain of Type II inositol polyphosphate 5-phosphatase I, Oculocerebrorenal syndrome of Lowe 1, and related proteins
    cd04380
    Location:668 → 896
    RhoGAP_OCRL1; RhoGAP (GTPase-activator protein [GAP] for Rho-like small GTPases) domain present in OCRL1-like proteins. OCRL1 (oculocerebrorenal syndrome of Lowe 1)-like proteins contain two conserved domains: a central inositol polyphosphate 5-phosphatase domain and ...
    cd13382
    Location:11 → 115
    PH_OCRL1; oculocerebrorenal syndrome of Lowe 1 Pleckstrin homology-like domain

  2. NM_001318784.2 → NP_001305713.1  inositol polyphosphate 5-phosphatase OCRL isoform c

    Status: REVIEWED

    Description
    Transcript Variant: This variant (c) uses an alternate splice site in the 5' coding region compared to variant a. The encoded isoform (c) is longer than isoform a.
    Source sequence(s)
    AI829608, AK226116, AL022162, BC094726
    UniProtKB/TrEMBL
    Q504W7
    Conserved Domains (3) summary
    cd09093
    Location:241 → 534
    INPP5c_INPP5B; Catalytic inositol polyphosphate 5-phosphatase (INPP5c) domain of Type II inositol polyphosphate 5-phosphatase I, Oculocerebrorenal syndrome of Lowe 1, and related proteins
    cd04380
    Location:669 → 897
    RhoGAP_OCRL1; RhoGAP (GTPase-activator protein [GAP] for Rho-like small GTPases) domain present in OCRL1-like proteins. OCRL1 (oculocerebrorenal syndrome of Lowe 1)-like proteins contain two conserved domains: a central inositol polyphosphate 5-phosphatase domain and ...
    cd13382
    Location:15 → 116
    PH_OCRL1; oculocerebrorenal syndrome of Lowe 1 Pleckstrin homology-like domain

  3. NM_001587.4 → NP_001578.2  inositol polyphosphate 5-phosphatase OCRL isoform b

    See identical proteins and their annotated locations for NP_001578.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (b) lacks an alternate in-frame exon, compared to variant 1, resulting in a shorter protein (isoform b) that has a shorter C-terminus, compared to isoform 1.
    Source sequence(s)
    AL022162, AL138745, AL662877
    Consensus CDS
    CCDS35394.1
    UniProtKB/TrEMBL
    A0A2X0TVZ9, Q504W7
    Related
    ENSP00000349635.5, ENST00000357121.5
    Conserved Domains (3) summary
    cd09093
    Location:240 → 533
    INPP5c_INPP5B; Catalytic inositol polyphosphate 5-phosphatase (INPP5c) domain of Type II inositol polyphosphate 5-phosphatase I, Oculocerebrorenal syndrome of Lowe 1, and related proteins
    cd04380
    Location:668 → 888
    RhoGAP_OCRL1; RhoGAP (GTPase-activator protein [GAP] for Rho-like small GTPases) domain present in OCRL1-like proteins. OCRL1 (oculocerebrorenal syndrome of Lowe 1)-like proteins contain two conserved domains: a central inositol polyphosphate 5-phosphatase domain and ...
    cd13382
    Location:11 → 115
    PH_OCRL1; oculocerebrorenal syndrome of Lowe 1 Pleckstrin homology-like domain

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000023.11 Reference GRCh38.p14 Primary Assembly

    Range
    129540259..129592556
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060947.1 Alternate T2T-CHM13v2.0

    Range
    127859040..127911341
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q01968.3 GenPept UniProtKB/Swiss-Prot:Q01968

Gene LinkOut

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