PIP4P1 - phosphatidylinositol-4,5-bisphosphate 4-phosphatase 1 Gene

Homo sapiens

Also known as C14orf9; TMEM55B

Gene ID: 90809 | Gene type: protein coding

About PIP4P1

Cytogenetic location: 14q11.2 Genomic coordinates (GRCh38): 14:20,457,681-20,461,434 (from NCBI)

This gene has 7 transcripts (splice variants), 259 orthologues and 1 paralogue. Ubiquitous expression in bone marrow (RPKM 22.8), thyroid (RPKM 17.4) and 25 other tissues.

Summary

TMEM55B catalyzes the degradation of phosphatidylinositol 4,5-bisphosphate (PtdIns-4,5-P2) by removing the 4-phosphate (Ungewickell et al., 2005 [PubMed 16365287]).[supplied by OMIM, Mar 2008]

PIP4P1 Products(2)

mRNA	Protein	Name
NM_001100814.3	NP_001094284.1	type 1 phosphatidylinositol 4,5-bisphosphate 4-phosphatase isoform 1
NM_144568.4	NP_653169.2	type 1 phosphatidylinositol 4,5-bisphosphate 4-phosphatase isoform 2

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity	IDA IDA: Inferred from direct assay	16365287	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	29644770	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in cholesterol metabolic process	IMP IMP: Inferred from mutant phenotype	25035345	GOA
involved in lysosome localization	IMP IMP: Inferred from mutant phenotype	29146937	GOA
involved in phosphatidylinositol dephosphorylation	IDA IDA: Inferred from direct assay	16365287	GOA
involved in positive regulation of TORC1 signaling	IMP IMP: Inferred from mutant phenotype	29644770	GOA
involved in response to sterol depletion	IDA IDA: Inferred from direct assay	25035345	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
located in late endosome membrane	IDA IDA: Inferred from direct assay	16365287	GOA
located in lysosomal membrane	IDA IDA: Inferred from direct assay	16365287	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

PIP4P1 Protein Structure

Tmemb_55A

0
100
200
277 a.a.

Protein Preferred Names

Protein Names

type 1 phosphatidylinositol 4,5-bisphosphate 4-phosphatase

ptdIns-4,5-P(2) 4-phosphatase type I

Related Diseases

Diseases

Alias

Deafness, Autosomal Recessive 99

DFNB99	Autosomal Recessive Nonsyndromic Deafness 99
Autosomal Recessive Deafness 99	Deafness, Autosomal Recessive, 99

Lung Mucoepidermoid Carcinoma

Mucoepidermoid Carcinoma Of Lung

Congenital Disorder Of Glycosylation, Type Ip

CDG1P	Congenital Disorder Of Glycosylation Ip
Congenital Disorder Of Glycosylation 1p	Alg11-Cdg
Cdg-Ip	Congenital Disorder Of Glycosylation Type Ip
Cdg Syndrome Type Ip	Carbohydrate Deficient Glycoprotein Syndrome Type Ip
Congenital Disorder Of Glycosylation Type 1p	Cdgip
Cdg Ip	Glycosylation, Congenital Disorder Of, Type Ip

Hermansky-Pudlak Syndrome 2

HPS2	Hermansky Pudlak Syndrome 2
Platelet Defects And Oculocutaneous Albinism	Albinism With Hemorrhagic Diathesis And Pigmented Reticuloendothelial
Delta Storage Pool Disease	Hermansky-Pudlak Syndrome, Type 2
Platelet Storage Pool Deficiency	Albinism With Hemorrhagic Diathesis And Pigmented Reticuloendothelial Cells

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS10565	PIP4P1 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Mus musculus	PIP4P1	MGD	MGI:2448501
Felis catus	PIP4P1	VGNC	VGNC:64183
Bos taurus	PIP4P1	VGNC	VGNC:32909
Rattus norvegicus	PIP4P1	RGD	RGD:1307475
Canis familiaris	PIP4P1	VGNC	VGNC:44573

Name
Email *

	Sorry, but the email address you supplied was invalid.