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

Gene ID: 4952, updated on 17-Jun-2019

Summary

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
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; NPHL2; OCRL1; 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

Genomic context

See OCRL in Genome Data Viewer
Location:
Xq26.1
Exon count:
24
Annotation release Status Assembly Chr Location
109.20190607 current GRCh38.p13 (GCF_000001405.39) X NC_000023.11 (129540259..129592556)
105 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (128673826..128726533)

Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene RNA, 5S ribosomal pseudogene 513 Neighboring gene SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 1 Neighboring gene Sharpr-MPRA regulatory region 13828 Neighboring gene Sharpr-MPRA regulatory region 14523 Neighboring gene apelin

Genomic regions, transcripts, and products

Expression

  • Project title: 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

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Dent disease 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 (2012-04-26)

ClinGen Genome Curation Page
Haploinsufficency

Sufficient evidence for dosage pathogenicity (Last evaluated (2012-04-26)

ClinGen Genome Curation Page

Pathways from BioSystems

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

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

General protein information

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

NCBI Reference Sequences (RefSeq)

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
    5001..57282
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_000276.4NP_000267.2  inositol polyphosphate 5-phosphatase OCRL-1 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
    Q01968
    Related
    ENSP00000360154.4, ENST00000371113.9
    Conserved Domains (3) summary
    cd09093
    Location:240533
    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:668896
    RhoGAP_OCRL1; 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 ...
    cd13382
    Location:11115
    PH_OCRL1; oculocerebrorenal syndrome of Lowe 1 Pleckstrin homology-like domain
  2. NM_001318784.2NP_001305713.1  inositol polyphosphate 5-phosphatase OCRL-1 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:241534
    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:669897
    RhoGAP_OCRL1; 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 ...
    cd13382
    Location:15116
    PH_OCRL1; oculocerebrorenal syndrome of Lowe 1 Pleckstrin homology-like domain
  3. NM_001587.4NP_001578.2  inositol polyphosphate 5-phosphatase OCRL-1 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/Swiss-Prot
    Q01968
    Related
    ENSP00000349635.5, ENST00000357121.5
    Conserved Domains (3) summary
    cd09093
    Location:240533
    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:668888
    RhoGAP_OCRL1; 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 ...
    cd13382
    Location:11115
    PH_OCRL1; oculocerebrorenal syndrome of Lowe 1 Pleckstrin homology-like domain

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000023.11 Reference GRCh38.p13 Primary Assembly

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