1. Gene
  2. PRICKLE3 - prickle planar cell polarity protein 3 Gene

PRICKLE3 - prickle planar cell polarity protein 3 Gene

Homo sapiens

Also known as Pk3; LMO6; LOAM

Gene ID: 4007 | Gene type: protein coding

About PRICKLE3

Cytogenetic location: Xp11.23 Genomic coordinates (GRCh38): X:49,174,802-49,186,373 (from NCBI)

This gene has 8 transcripts (splice variants), 198 orthologues, 1 paralogue and is associated with 1 phenotype. Ubiquitous expression in skin (RPKM 16.7), esophagus (RPKM 11.7) and 24 other tissues.

Summary

LIM domain only 6 is a three LIM domain-containing protein. The LIM domain is a cysteine-rich sequence motif that binds zinc atoms to form a specific protein-binding interface for protein-protein interactions. [provided by RefSeq, Jul 2008]

PRICKLE3 Products(2)

mRNA Protein Name
NM_001307979.2 NP_001294908.1 prickle planar cell polarity protein 3 isoform 2
NM_006150.5 NP_006141.2 prickle planar cell polarity protein 3 isoform 1
Gene Ontology
  • Molecular Function
  • Cellular Component
Molecular Function GO Annotation Evidence Reference Source
enables protein binding IPI
IPI: Inferred from physical interaction
17474147 GOA
Cellular Component GO Annotation Evidence Reference Source
located in mitochondrion IDA
IDA: Inferred from direct assay
32516135 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
Protein Preferred Names Protein Names

prickle planar cell polarity protein 3

LIM domain only protein 6

PRICKLE3 Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method Reference
Intra
PRICKLE3 O43900 FYN Homo sapiens P06241 17474147
Intra
PRICKLE3 O43900 SULT2B1 Homo sapiens O00204 25416956
Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases Alias
Leber Hereditary Optic Neuropathy, Modifier Of

Leber Optic Atrophy

Leber Hereditary Optic Neuropathy

LHON

Leber'S Hereditary Optic Neuropathy

Leber Optic Atrophy, Susceptibility To

Leber'S Optic Atrophy

LOAM

Loas

Leber'S Disease

Leber'S Optic Neuropathy

Optic Atrophy, Hereditary, Leber

Lhon, Modifier Of

Optic Atrophy, Leber Type

Hereditary Optic Neuroretinopathy

Leber Hereditary Optic Atrophy

Loa

Optic Atrophy Leber Type

Leber Hereditary Optic Neuropathy, Modifier

Leber Hereditary Optic Neuropathy Susceptibility

Modifier Of Leber Hereditary Optic Neuropathy

Lebers Hereditary Optic Neuropathy

Leber Congenital Amaurosis

Leber Plus Disease

Leber Congenital Amaurosis

Lca

Leber'S Amaurosis

Leber'S Disease

Amaurosis Congenita Of Leber

Amaurosis Congenita Of Leber, Type 1

Lhon Plus Disease

Congenital Absence Of The Rods And Cones

Congenital Retinal Blindness

Crb

Congenital Amaurosis Of Retinal Origin

Leber'S Congenital Amaurosis

Leber Congenital Amaurosis 1

Leber'S Congenital Tapetoretinal Degeneration

Leber'S Congenital Tapetoretinal Dysplasia

Lca1

Leber Congenital Amaurosis Type 1

Retinal Blindness, Congenital

Amaurosis, Leber Congenital

Dysgenesis Neuroepithelialis Retinae

Hereditary Epithelial Dysplasia Of Retina

Hereditary Retinal Aplasia

Heredoretinopathia Congenitalis

Leber Abiotrophy

Leber Congenital Tapetoretinal Degeneration

Lebers Congenital Amaurosis

Optic Atrophy, Hereditary, Leber

Lissencephaly 8

LIS8

Alzheimer Disease 15

AD15

Alzheimer'S Disease 15

Alzheimer Disease Without Neurofibrillary Tangles

Alzheimer'S Disease 15, Late Onset

Alzheimer'S Disease Without Neurofibrillary Tangles

Aland Island Eye Disease

AIED

Forsius-Eriksson Type Ocular Albinism

Forsius-Eriksson Syndrome

Autoimmune Inner Ear Disease

Forsius Eriksson Type Ocular Albinism

Aland Islands Eye Disease

Aaland Island Eye Disease

Ocular Albinism, Type Ii

Usher Syndrome, Type Iiia

Usher Syndrome Type 3

Ush3

Usher Syndrome Type 3a

USH3A

Usher Syndrome, Type Iii

Usher Syndrome, Type 3

Usher Syndrome, Type 3a

Usher Syndrome Type Iiia

Usher Syndrome 3a

Usher'S Syndrome Type 3

Usher Syndrome Iii

Usher Syndrome Type Iii

Spinocerebellar Ataxia, Autosomal Recessive 24

SCAR24

Autosomal Recessive Spinocerebellar Ataxia 24

Spinocerebellar Ataxia, Autosomal Recessive, 24

Ataxia, Spinocerebellar, Autosomal Recessive, Type 24

Schuurs-Hoeijmakers Syndrome

SHMS

Pacs1-Related Syndrome

Mrd17

Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome

Intellectual Developmental Disorder, Autosomal Dominant 17

Autosomal Dominant Intellectual Disability-17

Autosomal Dominant Mental Retardation 17

Pacs1 Syndrome

Mental Retardation, Autosomal Dominant 17

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

Orthologs Information

Species Symbol Source ID
Rattus norvegicus PRICKLE3 RGD RGD:1359685
Macaca mulatta PRICKLE3 VGNC VGNC:76361
Canis familiaris PRICKLE3 VGNC VGNC:44967
Bos taurus PRICKLE3 VGNC VGNC:33317
Mus musculus PRICKLE3 MGD MGI:1859635
Felis catus PRICKLE3 VGNC VGNC:68072