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Ocrl OCRL, inositol polyphosphate-5-phosphatase [ Mus musculus (house mouse) ]

Gene ID: 320634, updated on 12-May-2024

Summary

Official Symbol
Ocrlprovided by MGI
Official Full Name
OCRL, inositol polyphosphate-5-phosphataseprovided by MGI
Primary source
MGI:MGI:109589
See related
Ensembl:ENSMUSG00000001173 AllianceGenome:MGI:109589
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Mus musculus
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as
OCRL1; 9530014D17Rik
Summary
Enables phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity. Acts upstream of or within in utero embryonic development and phosphatidylinositol dephosphorylation. Predicted to be located in several cellular components, including cytoplasmic vesicle; photoreceptor outer segment; and trans-Golgi network. Predicted to be active in cytoplasm and membrane. Is expressed in several structures, including brain; eye; genitourinary system; heart; and liver. Used to study oculocerebrorenal syndrome. Human ortholog(s) of this gene implicated in Dent disease and oculocerebrorenal syndrome. Orthologous to human OCRL (OCRL inositol polyphosphate-5-phosphatase). [provided by Alliance of Genome Resources, Apr 2022]
Expression
Ubiquitous expression in limb E14.5 (RPKM 9.9), frontal lobe adult (RPKM 8.3) and 25 other tissues See more
Orthologs
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Genomic context

See Ocrl in Genome Data Viewer
Location:
X A4; X 25.43 cM
Exon count:
27
Annotation release Status Assembly Chr Location
RS_2024_02 current GRCm39 (GCF_000001635.27) X NC_000086.8 (47001289..47055305)
108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) X NC_000086.7 (47912418..47966428)

Chromosome X - NC_000086.8Genomic Context describing neighboring genes Neighboring gene SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 1 Neighboring gene STARR-seq mESC enhancer starr_47096 Neighboring gene ribosomal protein L21 pseudogene Neighboring gene STARR-seq mESC enhancer starr_47097 Neighboring gene STARR-seq mESC enhancer starr_47098 Neighboring gene predicted gene, 36658 Neighboring gene calmodulin 2 pseudogene

Genomic regions, transcripts, and products

Expression

  • Project title: Mouse ENCODE transcriptome data
  • Description: RNA profiling data sets generated by the Mouse ENCODE project.
  • BioProject: PRJNA66167
  • Publication: PMID 25409824
  • Analysis date: n/a

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Variation

Alleles

Alleles of this type are documented at Mouse Genome Informatics  (MGI)
  • Endonuclease-mediated (1) 
  • Targeted (2)  1 citation

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Gene Ontology Provided by MGI

Process Evidence Code Pubs
acts_upstream_of_or_within cell projection organization IEA
Inferred from Electronic Annotation
more info
 
involved_in cilium assembly ISO
Inferred from Sequence Orthology
more info
 
acts_upstream_of_or_within in utero embryonic development IGI
Inferred from Genetic Interaction
more info
PubMed 
acts_upstream_of_or_within lipid metabolic process IEA
Inferred from Electronic Annotation
more info
 
involved_in phosphatidylinositol dephosphorylation IBA
Inferred from Biological aspect of Ancestor
more info
 
acts_upstream_of_or_within phosphatidylinositol dephosphorylation IDA
Inferred from Direct Assay
more info
PubMed 
involved_in signal transduction IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
located_in Golgi apparatus ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
located_in cell projection IEA
Inferred from Electronic Annotation
more info
 
located_in cilium IEA
Inferred from Electronic Annotation
more info
 
located_in clathrin-coated pit IEA
Inferred from Electronic Annotation
more info
 
located_in clathrin-coated vesicle ISO
Inferred from Sequence Orthology
more info
 
is_active_in cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
 
located_in cytoplasm ISO
Inferred from Sequence Orthology
more info
 
located_in cytoplasmic vesicle IEA
Inferred from Electronic Annotation
more info
 
located_in early endosome ISO
Inferred from Sequence Orthology
more info
 
located_in endosome IEA
Inferred from Electronic Annotation
more info
 
is_active_in membrane IBA
Inferred from Biological aspect of Ancestor
more info
 
located_in nucleus ISO
Inferred from Sequence Orthology
more info
 
located_in photoreceptor outer segment ISO
Inferred from Sequence Orthology
more info
 
located_in plasma membrane ISO
Inferred from Sequence Orthology
more info
 
located_in trans-Golgi network ISO
Inferred from Sequence Orthology
more info
 

General protein information

Preferred Names
inositol polyphosphate 5-phosphatase OCRL
Names
inositol polyphosphate 5-phosphatase OCRL-1
oculocerebrorenal syndrome of Lowe
phosphatidylinositol 3,4,5-triphosphate 5-phosphatase
NP_796189.2
XP_011249310.1
XP_017174013.1
XP_036017876.1
XP_036017877.1
XP_036017878.1
XP_036017879.1

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.

mRNA and Protein(s)

  1. NM_177215.3NP_796189.2  inositol polyphosphate 5-phosphatase OCRL

    See identical proteins and their annotated locations for NP_796189.2

    Status: VALIDATED

    Source sequence(s)
    BC068146
    Consensus CDS
    CCDS40957.1
    UniProtKB/Swiss-Prot
    Q6NVF0, Q8BXC9
    Related
    ENSMUSP00000001202.9, ENSMUST00000001202.15
    Conserved Domains (3) summary
    cd09093
    Location:239532
    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:667895
    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:11115
    PH_OCRL1; oculocerebrorenal syndrome of Lowe 1 Pleckstrin homology-like domain

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

Reference GRCm39 C57BL/6J

Genomic

  1. NC_000086.8 Reference GRCm39 C57BL/6J

    Range
    47001289..47055305
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011251008.4XP_011249310.1  inositol polyphosphate 5-phosphatase OCRL isoform X1

    Conserved Domains (3) summary
    cd09093
    Location:238531
    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:666894
    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:11114
    PH_OCRL1; oculocerebrorenal syndrome of Lowe 1 Pleckstrin homology-like domain
  2. XM_017318524.3XP_017174013.1  inositol polyphosphate 5-phosphatase OCRL isoform X3

    Conserved Domains (3) summary
    cd09093
    Location:239532
    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:667887
    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:11115
    PH_OCRL1; oculocerebrorenal syndrome of Lowe 1 Pleckstrin homology-like domain
  3. XM_036161984.1XP_036017877.1  inositol polyphosphate 5-phosphatase OCRL isoform X4

    Conserved Domains (3) summary
    cd09093
    Location:215508
    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:643871
    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 ...
    cl17171
    Location:4494
    PH-like; Pleckstrin homology-like domain
  4. XM_036161985.1XP_036017878.1  inositol polyphosphate 5-phosphatase OCRL isoform X5

    Conserved Domains (2) summary
    cd09093
    Location:101394
    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:529757
    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 ...
  5. XM_036161983.1XP_036017876.1  inositol polyphosphate 5-phosphatase OCRL isoform X2

    Conserved Domains (3) summary
    cd09093
    Location:235528
    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:663891
    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 ...
    cl17171
    Location:64114
    PH-like; Pleckstrin homology-like domain
  6. XM_036161986.1XP_036017879.1  inositol polyphosphate 5-phosphatase OCRL isoform X6

    Conserved Domains (2) summary
    cd09093
    Location:9300
    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:435663
    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 ...

RNA

  1. XR_004940339.1 RNA Sequence

  2. XR_004940340.1 RNA Sequence

  3. XR_004940341.1 RNA Sequence