PRICKLE3 - prickle planar cell polarity protein 3 Gene

Also Known as Pk3; LMO6; LOAM

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 4007

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
Molecular Function GO Annotation Evidence References Source
enables protein binding IPI
IPI: Inferred from physical interaction
17474147 GOA
Cellular Component GO Annotation Evidence References 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 References
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
Others PRICKLE3 NCBI