PIP5K1C - phosphatidylinositol-4-phosphate 5-kinase type 1 gamma Gene

Also Known as LCCS3; PIP5Kgamma; PIP5K-GAMMA; PIP5K1-gamma

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 23396

About PIP5K1C

Cytogenetic location: 19p13.3 Genomic coordinates (GRCh38): 19:3,630,183-3,700,468 (from NCBI)

This gene has 10 transcripts (splice variants), 265 orthologues, 6 paralogues and is associated with 3 phenotypes. Broad expression in testis (RPKM 14.7), brain (RPKM 13.9) and 25 other tissues.

Summary

This locus encodes a type I phosphatidylinositol 4-phosphate 5-kinase. The encoded protein catalyzes phosphorylation of phosphatidylinositol 4-phosphate, producing phosphatidylinositol 4,5-bisphosphate. This enzyme is found at synapses and has been found to play roles in endocytosis and cell migration. Mutations at this locus have been associated with lethal congenital contractural syndrome. Alternatively spliced transcript variants encoding different isoforms have been described.[provided by RefSeq, Sep 2010]

PIP5K1C Products (3)

mRNA	Protein	Name
NM_001195733.2	NP_001182662.1	phosphatidylinositol 4-phosphate 5-kinase type-1 gamma isoform 1
NM_001300849.2	NP_001287778.1	phosphatidylinositol 4-phosphate 5-kinase type-1 gamma isoform 3
NM_012398.3	NP_036530.1	phosphatidylinositol 4-phosphate 5-kinase type-1 gamma isoform 2

Gene Ontology

Molecular Function
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables protein binding	IPI IPI: Inferred from physical interaction	23982733	GOA

Cellular Component GO Annotation	Evidence	References	Source
located in endosome membrane	IDA IDA: Inferred from direct assay	25588945	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

PIP5K1C Protein Structure

PIP5K

0
200
400
600
668 a.a.

Protein Preferred Names	Protein Names
phosphatidylinositol 4-phosphate 5-kinase type-1 gamma	PIP5K1gamma

PIP5K1C Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	PIP5K1C	O60331	TLN1	Homo sapiens	Q9Y490	Phage Display	35044719
Intra	PIP5K1C	O60331	TLN1	Homo sapiens	Q9Y490	FPS	35044719

Cross: Cross-species interaction Intra: Intraspecies interaction

PIP5K1C Antibodies

Cat. No.	Product Name	Application	Reactivity
HY-P810977	PIP5K1C Antibody	WB, ICC/IF	Human, Mouse, Rat
HY-P81899	PIP5K1C Antibody (YA1644)	WB, IP	Human, Mouse
HY-P81899A	PIP5K1C Antibody (YA1644)(PBS only)	WB, IP	Human, Mouse
HY-P87011	PIP5K1C Antibody (YA6704)	WB	Human

Related Diseases

Diseases	Alias
Lethal Congenital Contracture Syndrome 3	LCCS3 Lethal Congenital Contractural Syndrome 3 Multiple Contracture Syndrome, Israeli Bedouin Type B Israeli Bedouin Type B Multiple Contracture Syndrome Lethal Congenital Contracture Syndrome Type 3 Multiple Contractural Syndrome Israeli Bedouin Type B Contracture Syndrome, Lethal, Congenital, Type 3
Lethal Congenital Contracture Syndrome	Lccs Lethal Congenital Contracture Syndrome 1
Lethal Congenital Contracture Syndrome 2	LCCS2 Lethal Congenital Contractural Syndrome 2 Multiple Contracture Syndrome, Israeli-Bedouin Type Multiple Contracture Syndrome, Israeli Bedouin Type A Multiple Contracture Syndrome, Israeli Bedouin Type Lethal Congenital Contracture Syndrome Type 2 Israeli Bedouin Multiple Contracture Syndrome Type A Contracture Syndrome, Lethal, Congenital, Type 2
Neurogenic Bladder	Neurogenic Dysfunction Of The Urinary Bladder Neurogenic Urinary Bladder Disorder Neuropathic Bladder Bladder Neurogenic Urinary Bladder, Neurogenic Neurogenic Urinary Bladder
Lethal Congenital Contracture Syndrome 1	LCCS1 Multiple Contracture Syndrome, Finnish Type Lccs Lethal Autosomal Recessive Syndrome Of Multiple Congenital Contractures Lethal Congenital Contracture Syndrome Type 1 Herva Disease Multiple Contracture Syndrome Finnish Type Contracture Syndrome, Lethal, Congenital, Type 1
Arthrogryposis, Distal, Type 5	Oculomelic Amyoplasia Distal Arthrogryposis Type 5 Distal Arthrogryposis Type Iib DA5 Arthrogryposis With Oculomotor Limitation And Electroretinal Abnormalities Daiib Distal Arthrogryposis Type 2b Arthrogryposis-Oculomotor Limitation-Electroretinal Anomalies Syndrome Distal Arthrogryposis With Ophthalmoplegia Arthrogryposis- Oculomotor Limitation-Electroretinal Anomalies Syndrome Arthrogryposis, Distal, Type Iib Da2b Freeman-Sheldon Syndrome Variant Sheldon-Hall Syndrome Arthogryposis With Oculomotor Limitation And Electroretinal Abnormalities Arthrogryposis Ophthalmoplegia Retinopathy Arthrogryposis, Distal, 5 Arthrogryposis, Distal, Type 2b
Cerebellar Ataxia, Cayman Type	Cayman Type Cerebellar Ataxia Ataxia, Cerebellar, Cayman Type ATCAY Cayman Cerebellar Ataxia Cayman Ataxia
Multiple Pterygium Syndrome, Escobar Variant	Multiple Pterygium Syndrome Pterygium Escobar Syndrome EVMPS Pterygium Syndrome Autosomal Recessive Multiple Pterygium Syndrome Pterygium Colli Syndrome Pterygium Universale Autosomal Recessive Non-Lethal Multiple Pterygium Syndrome Escobar Variant Multiple Pterygium Syndrome Multiple Pterygium Syndrome, Nonlethal Type Surfer'S Eye Multiple Pterygium Syndrome Escobar Type Multiple Pterygium Syndrome Nonlethal Type Familial Pterygium Syndrome Pterygium Colli Multiple Pterygium Syndrome, Non-Lethal Type Nonlethal Type Multiple Pterygium Syndrome Pterygium Syndrome, Multiple, Escobar Type Pterygium Of Eye Web Eye
Macrocephaly/Autism Syndrome	Macrocephaly-Autism Syndrome Macrocephaly-Intellectual Disability-Autism Syndrome MCEPHAS
Distal Arthrogryposis	Arthrogryposis Multiplex Congenita Arthrogryposis Congenital Multiple Arthrogryposis Congenital Arthromyodysplasia Fibrous Ankylosis Of Multiple Joints Guerin-Stern Syndrome Guérin-Stern Syndrome Myodystrophia Fetalis Deformans Otto Syndrome Rocher-Sheldon Syndrome Rossi Syndrome Amc Multiple Congenital Arthrogryposis Arthrogryposis Syndrome Arthrogryposis, Distal Distal Arthrogryposis Syndrome Freeman-Sheldon Syndrome Arthrogryposis, Distal, Type 2b Congenital Multiplex Arthrogryposis Amyoplasia Congenita Congenital Amyoplasia Amc - [Arthrogryposis Multiplex Congenita]
Joubert Syndrome 1	Joubert Syndrome Jbts Cerebellooculorenal Syndrome 1 JBTS1 Joubert-Boltshauser Syndrome Cerebelloparenchymal Disorder Iv Cpd4 Cors1 Joubert Syndrome And Related Disorders Jsrd Familial Aplasia Of The Vermis Joubert Syndrome Related Disorders Js Cerebellar Vermis Agenesis Cerebelloparenchymal Disorder 4 Agenesis Of Cerebellar Vermis Cerebello-Oculo-Renal Syndrome Cors Joubert-Bolthauser Syndrome Cpd Iv Classic Joubert Syndrome Joubert Syndrome Type A Pure Joubert Syndrome Cerebello-Oculo-Renal Syndrome 1 Joubert Syndrome-1 Joubert Syndrome, Type 1 Joubert'S Syndrome

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

Pre-clinical Phase

Bioactive Molecules (8)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-110150	UNC3230	Inhibitor	99.39%	Unkown
HY-163476	PIP5K1C-IN-1	Inhibitor	98.71%	Unkown
HY-163943	UNI418	Inhibitor	99.61%	Unkown
HY-163477	PIP5K1C-IN-2	Inhibitor	/	Unkown
HY-E70633	PIP5K1C Recombinant Human Active Lipid Kinase		/	Unkown
HY-RS10568	PIP5K1C Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS19283	Pip5k1c Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS25773	Pip5k1c Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Canis familiaris	PIP5K1C	VGNC	VGNC:44576
Felis catus	PIP5K1C	VGNC	VGNC:68863
Mus musculus	PIP5K1C	MGD	MGI:1298224
Rattus norvegicus	PIP5K1C	RGD	RGD:1309938
Bos taurus	PIP5K1C	VGNC	VGNC:32912
Macaca mulatta	PIP5K1C	VGNC	VGNC:76002
Others	PIP5K1C	NCBI