Gene/Proteome Database (LMPD)

LMPD ID
LMP000526
Gene ID
320634
Species
Mus musculus (Mouse)
Gene Name
oculocerebrorenal syndrome of Lowe
Gene Symbol
Ocrl
Synonyms
9530014D17Rik; BB143339; OCRL1
Alternate Names
inositol polyphosphate 5-phosphatase OCRL-1
Chromosome
X
Map Location
X A4|X
EC Number
3.1.3.36

Proteins

inositol polyphosphate 5-phosphatase OCRL-1
Refseq ID NP_796189
Protein GI 46195807
UniProt ID Q6NVF0
mRNA ID NM_177215
Length 900
RefSeq Status PROVISIONAL
MEPRLPIGAQPLAMVAGLEMKGPLREPCVLTLARRNGQYELIIQLHGKEQHVQDIIPINSHFRCVQEAEETLLIDIASNSGCKIRVQGDWTRERHFEIPDEERCLKFLSEVLEAQEAQSQLLVPEQKDSSSWYQKLDTMDKPAYSGLLGFEDNFSSLDLDKKMNTQNPRSGSHREPPPPPSSSTRMLSREKEASNKEQPKVTNTMRKLFVPNTQTGQREGLIKHILTKREKEYVNIQSFRFFVGTWNVNGQSPDSSLEPWLDCDPNPPDIYCIGFQELDLSTEAFFYFESVKEQEWSLAVERGLPSKAKYRKVQLVRLVGMMLLIFARKDQCQYIRDVATETTGTGIMGKMGNKGGVAVRFVFHNTTFCIVNSHLAAHVEEFERRNQDYKDICARMTFSVPNQTVPQVNIMKHDVVIWLGDLNYRLCMPDASEVKSLINKNELHKLLKFDQLNIQRTQKKAFADFNEGEINFVPTYKYDSKTDRWDSSGKCRVPAWCDRILWRGINVNQLHYRSHMELKTSDHKPVSALFHIGVKVVDERRYRKVFEDIVRIMDRMENDFLPSLELSRREFFFENVKFRQLQKEKFQISNNGQVPCHFSFIPKLNDSQYCKPWLRAEPFEGYLEPNETLDISLDVYVSKDSVTILNSGEDKIEDILVLHLDRGKDYFLTIGGNYLPSCFGTSLEALCRMKRPIREVPVTKLIDLEEDSYLEKEKSLLQMVPLDEGTSERPLQVPKEIWLLVDHLFKYACHQEDLFQTPGMQEELQQIIDCLDTSIPETIPGNNHSVAEALLIFLEALPEPVICYELYQRCLDSAHDPRICKQVISQLPRCHRNVFRYLMAFLRELLKFSDYNNINTNMIATLFSSLLLRPPPNLMTRQTPNDRQHAIQFLLVFLLGNEED

Gene Information

Entrez Gene ID
320634
Gene Name
oculocerebrorenal syndrome of Lowe
Gene Symbol
Ocrl
Species
Mus musculus

Gene Ontology (GO Annotations)

GO ID Source Type Description
GO:0005794 ISS:MGI C Golgi apparatus
GO:0030136 IEA:Ensembl C clathrin-coated vesicle
GO:0005905 IEA:UniProtKB-KW C coated pit
GO:0005769 IEA:Ensembl C early endosome
GO:0070062 IEA:Ensembl C extracellular vesicular exosome
GO:0005634 IEA:Ensembl C nucleus
GO:0001750 IEA:Ensembl C photoreceptor outer segment
GO:0005886 IEA:Ensembl C plasma membrane
GO:0005802 IEA:Ensembl C trans-Golgi network
GO:0030675 IEA:Ensembl F Rac GTPase activator activity
GO:0004439 IDA:MGI F phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity
GO:0042384 IEA:Ensembl P cilium assembly
GO:0001701 IGI:MGI P in utero embryonic development
GO:0046856 IDA:MGI P phosphatidylinositol dephosphorylation
GO:0032314 IEA:Ensembl P regulation of Rac GTPase activity
GO:0007165 IEA:InterPro P signal transduction

KEGG Pathway Links

KEGG Pathway ID Description
mmu00562 Inositol phosphate metabolism

REACTOME Pathway Links

REACTOME Pathway ID Description
5894027 Synthesis of IP2, IP, and Ins in the cytosol
5894025 Synthesis of IP3 and IP4 in the cytosol
5894012 Synthesis of PIPs at the Golgi membrane

Domain Information

InterPro Annotations

Accession Description
IPR005135 Endonuclease/exonuclease/phosphatase
IPR000300 Inositol polyphosphate-related phosphatase
IPR008936 Rho GTPase activation protein
IPR000198 Rho GTPase-activating protein domain

UniProt Annotations

Entry Information

Gene Name
oculocerebrorenal syndrome of Lowe
Protein Entry
OCRL_MOUSE
UniProt ID
Q6NVF0
Species
Mouse

Comments

Comment Type Description
Alternative Products Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q6NVF0-1; Sequence=Displayed; Name=2; IsoId=Q6NVF0-2; Sequence=VSP_045749, VSP_045750; Note=No experimental confirmation available.;
Catalytic Activity 1-phosphatidyl-1D-myo-inositol 4,5- bisphosphate + H(2)O = 1-phosphatidyl-1D-myo-inositol 4-phosphate + phosphate.
Domain The ASH (ASPM-SPD2-Hydin) and RhoGAP (Rho GTPase activating) domains form a single folding module. The ASH domain has an immunoglobulin-like fold, the Rho-GAP domain lacks the catalytic arginine and is catalytically inactive. The ASH-RhoGAP module regulates the majority of the protein-protein interactions currently described. The ASH domain mediates association with membrane-targeting Rab GTPases. The Rho-GAP domain interacts with the endocytic adapter APPL1, which is then displaced by FAM109A and FAM109B as endosomes mature (By similarity). {ECO:0000250}.
Function Converts phosphatidylinositol 4,5-bisphosphate to phosphatidylinositol 4-phosphate. Also converts inositol 1,4,5- trisphosphate to inositol 1,4-bisphosphate and inositol 1,3,4,5- tetrakisphosphate to inositol 1,3,4-trisphosphate. May function in lysosomal membrane trafficking by regulating the specific pool of phosphatidylinositol 4,5-bisphosphate that is associated with lysosomes. Involved in primary cilia assembly (By similarity). {ECO:0000250}.
Similarity Belongs to the inositol 1,4,5-trisphosphate 5- phosphatase type II family. {ECO:0000305}.
Similarity Contains 1 PH domain. {ECO:0000305}.
Similarity Contains 1 Rho-GAP domain. {ECO:0000255|PROSITE- ProRule:PRU00172}.
Subcellular Location Cytoplasmic vesicle, phagosome membrane {ECO:0000250}. Early endosome membrane {ECO:0000250}. Membrane, clathrin-coated pit {ECO:0000250}. Cell projection, cilium, photoreceptor outer segment {ECO:0000250}. Cytoplasmic vesicle {ECO:0000250}. Endosome {ECO:0000250}. Golgi apparatus, trans- Golgi network {ECO:0000250}. Note=Also found on macropinosomes. {ECO:0000250}.
Subunit Interacts with APPL1, FAM109A/SES1 and FAM109B/SES2; APPL1-binding and FAM109A-binding are mutually exclusive. Interacts with clathrin heavy chain. Interacts with several Rab GTPases, at least RAB1B, RAB5A, RAB6A, RAB8A and RAB31; these interactions may play a dual role in targeting OCRL to the specific membranes and stimulating the phosphatase activity. Interaction with RAB8A modulates OCRL recruitment to cilia. Interacts with RAB31 (By similarity). {ECO:0000250}.

Identical and Related Proteins

Unique RefSeq proteins for LMP000526 (as displayed in Record Overview)

Protein GI Database Accession Length Protein Name
46195807 RefSeq NP_796189 900 inositol polyphosphate 5-phosphatase OCRL-1

Identical Sequences to LMP000526 proteins

Reference Database Accession Length Protein Name
GI:46195807 DBBJ BAE20614.1 900 unnamed protein product [Mus musculus]
GI:46195807 GenBank AAH68146.1 900 Oculocerebrorenal syndrome of Lowe [Mus musculus]
GI:46195807 SwissProt Q6NVF0.1 900 RecName: Full=Inositol polyphosphate 5-phosphatase OCRL-1 [Mus musculus]

Related Sequences to LMP000526 proteins

Reference Database Accession Length Protein Name
GI:46195807 GenBank EDL29059.1 864 oculocerebrorenal syndrome of Lowe, isoform CRA_a [Mus musculus]
GI:46195807 RefSeq NP_001101726.2 899 inositol polyphosphate 5-phosphatase OCRL-1 [Rattus norvegicus]
GI:46195807 RefSeq XP_006257590.1 886 PREDICTED: inositol polyphosphate 5-phosphatase OCRL-1 isoform X1 [Rattus norvegicus]
GI:46195807 RefSeq XP_006541564.1 880 PREDICTED: inositol polyphosphate 5-phosphatase OCRL-1 isoform X1 [Mus musculus]
GI:46195807 RefSeq XP_008824928.1 897 PREDICTED: inositol polyphosphate 5-phosphatase OCRL-1 isoform X1 [Nannospalax galili]
GI:46195807 SwissProt D3ZGS3.1 902 RecName: Full=Inositol polyphosphate 5-phosphatase OCRL-1 [Rattus norvegicus]