CPLANE1 - ciliogenesis and planar polarity effector complex subunit 1 Gene

Also Known as Hug; OFD6; JBTS17; C5orf42

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 65250

About CPLANE1

Cytogenetic location: 5p13.2 Genomic coordinates (GRCh38): 5:37,075,669-37,249,376 (from NCBI)

This gene has 20 transcripts (splice variants), 181 orthologues and is associated with 8 phenotypes. Ubiquitous expression in thyroid (RPKM 3.4), testis (RPKM 2.7) and 25 other tissues.

Summary

The protein encoded by this gene has putative coiled-coil domains and may be a transmembrane protein. Defects in this gene are a cause of Joubert syndrome (JBTS). [provided by RefSeq, May 2012]

CPLANE1 Products (2)

mRNA	Protein	Name
NM_001384732.1	NP_001371661.1	ciliogenesis and planar polarity effector 1 isoform 1
NM_023073.4	NP_075561.3	ciliogenesis and planar polarity effector 1 isoform 2

Gene Ontology

Biological Process

Biological Process GO Annotation	Evidence	References	Source
involved in cilium assembly	IMP IMP: Inferred from mutant phenotype	25877302	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

CPLANE1 Protein Structure

Joubert

0
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1000
1500
2000
2500
3000
3197 a.a.

Protein Preferred Names	Protein Names
ciliogenesis and planar polarity effector 1	Heart Under Glass

Related Diseases

Diseases	Alias
Orofaciodigital Syndrome Vi	OFD6 Varadi-Papp Syndrome Varadi Syndrome Joubert Syndrome With Orofaciodigital Defect Orofaciodigital Syndrome Type 6 Orofaciodigital Syndrome 6 Oral-Facial-Digital Syndrome, Type Vi Ofds Vi Polydactyly, Cleft Lip/Palate Or Lingual Lump, And Psychomotor Retardation Polydactyly Cleft Lip Palate Psychomotor Retardation Oral-Facial-Digital Syndrome Type 6 Polydactyly-Cleft Lip/Palate-Psychomotor Retardation Syndrome Polydactyly - Cleft Lip/Palate - Psychomotor Retardation Váradi Syndrome Váradi-Papp Syndrome Joubert Syndrome With Oral-Facial-Digital Syndrome Oral-Facial-Digital Syndrome 6 Joubert-Orofaciodigital Syndrome Orofaciodigital Syndrome, Type Vi
Joubert Syndrome 17	JBTS17 Joubert Syndrome, Type 17
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
Amyotrophy, Monomelic	Monomelic Amyotrophy Hirayama Disease Benign Focal Amyotrophy Juvenile Muscular Atrophy Of Distal Upper Extremity Spinal Muscular Atrophy, Juvenile, Nonprogressive Juvenile Muscular Atrophy Of Distal Upper Limb Spinal Muscular Atrophy Juvenile Nonprogressive Jmadue Juvenile Muscular Atrophy Of The Distal Upper Limb
Encephalocele	Cephalocele Craniocele Bifid Cranium Cranium Bifidum Encephaloceles
Polydactyly	Non-Syndromic Polydactyly Polydactyly, Postaxial Postaxial Polydactyly Supernumerary Digit Extra Digits Hyperdactyly Polydactylia Polydactylism Supernumerary Digits
Central Polydactyly	Mesoaxial Polydactyly
Nephronophthisis	Medullary Cystic Disease Medullary Cystic Kidney Nph Nphp Kidney Disease, Cystic, Medullary
Juvenile Nephronophthisis	Nephronophthisis Nephronophthisis, Familial Juvenile
Orofaciodigital Syndrome	Oral-Facial-Digital Syndrome Orofaciodigital Syndromes Ofd Oral Facial Digital Syndromes Oral-Facial-Digital Syndromes Dysplasia Linguofacialis Ofds Oro-Facio-Digital Syndrome Orodigitofacial Dysostosis Orodigitofacial Syndrome Oral Facial Digital Syndrome Orofaciodigital Syndrome I
Apraxia	Apraxias Dyspraxia
Orofaciodigital Syndrome V	OFD5 Thurston Syndrome Orofaciodigital Syndrome 5 Polydactyly, Postaxial, With Median Cleft Of Upper Lip Ofds V Oral-Facial-Digital Syndrome, Type V Orofaciodigital Syndrome, Thurston Type Orofaciodigital Syndrome Thurston Type Oral-Facial-Digital Syndrome 5 Polydactyly Postaxial With Median Cleft Of Upper Lip Ofd Syndrome 5 Ofds 5 Oral Facial Digital Syndrome 5 Oral Facial Digital Syndrome Type 5 Orofaciodigital Syndrome Type 5 Oral-Facial-Digital Syndrome Type 5 Papillon-Leage And Psaume Syndrome Orofaciodigital Syndrome, Type V
Acrocallosal Syndrome	ACLS Schinzel Acrocallosal Syndrome Joubert Syndrome 12 Schinzel Syndrome 1 Acrocallosal Syndrome, Schinzel Type Hallux Duplication, Postaxial Polydactyly, And Absence Of Corpus Callosum Acs Absence Of Corpus Callosum With Unusual Facial Appearance, Mental Deficiency, Duplication Of The Halluces And Polydactyly Hallux Duplication Postaxial Polydactyly And Absence Of Corpus Callosum JBTS12 Acrocallosal Syndrome
Coach Syndrome 1	Coach Syndrome Joubert Syndrome With Congenital Hepatic Fibrosis Gentile Syndrome Joubert Syndrome With Hepatic Defect Js-H COACH1 Cerebellar Vermis Hypo/Aplasia, Oligophrenia, Congenital Ataxia, Ocular Coloboma, And Hepatic Fibrosis Cerebellar Vermis Hypoplasia-Oligophrenia-Congenital Ataxia-Coloboma-Hepatic Fibrosis Cerebellar Vermis Hypo/Aplasia, Oligophrenia, Ataxia Congenital, Coloboma, And Hepatic Fibrosis Cerebellar Vermis Hypo/Aplasia Oligophrenia Congenital Ataxia Ocular Coloboma And Hepatic Fibrosis
Severe Congenital Neutropenia 3	Kostmann Syndrome Infantile Agranulocytosis Kostmann Disease Scn3 Severe Congenital Neutropenia Type 3
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly	Majewski Syndrome SRTD6 Srps2a Short Rib-Polydactyly Syndrome, Majewski Type Polydactyly With Neonatal Chondrodystrophy, Type Ii Short Rib-Polydactyly Syndrome Type Iia Short Rib-Polydactyly Syndrome Type 2 Short Rib-Polydactyly Syndrome Type Ii Short Rib-Polydactyly Syndrome, Type Ii Srps, Type Ii Short Rib-Polydactyly Syndrome, Type Iia Polydactyly With Neonatal Chondrodystrophy Type 2 Srps Type 2 Short Rib-Polydactyly Syndrome Majewski Type Polydactyly With Neonatal Chondrodystrophy Type Ii Short Rib-Polydactyly Syndrome 2a Srps Type Ii
Coloboma Of Macula	Coloboma Congenital Ocular Coloboma Microphthalmia, Isolated, With Coloboma Agenesis Of Macula Hereditary Macular Coloboma Ocular Coloboma Coloboma Of Eye Macular Coloboma Uveoretinal Coloboma
Meckel Syndrome, Type 1	Meckel-Gruber Syndrome Meckel Syndrome Dysencephalia Splanchnocystica Meckel Syndrome 1 MKS1 Mks Gruber Syndrome Meckel-Gruber Syndrome, Type 1 Mes Dysencephalia Splachnocystica Meckel Gruber Syndrome Meckel Syndrome Type 1
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly	Asphyxiating Thoracic Dystrophy 1 Jeune Syndrome SRTD1 Atd1 Asphyxiating Thoracic Dystrophy Of The Newborn Jatd Jeune Asphyxiating Thoracic Dystrophy Thoracic-Pelvic-Phalangeal Dystrophy Atd Asphyxiating Thoracic Dystrophy Chondroectodermal Dysplasia-Like Syndrome Infantile Thoracic Dystrophy Jeune'S Syndrome Thoracic Pelvic Phalangeal Dystrophy Jeune Thoracic Dystrophy
Asphyxiating Thoracic Dystrophy	Jeune Thoracic Dystrophy Jeune Syndrome Asphyxiating Thoracic Dysplasia Short-Rib Thoracic Dysplasia With Or Without Polydactyly Thoracic Pelvic Phalangeal Dystrophy Asphyxiating Thoracic Chondrodystrophy Atd Chondroectodermal Dysplasia-Like Syndrome Infantile Thoracic Dystrophy Jeune Thoracic Dysplasia Thoracic Asphyxiant Dystrophy Thoracic-Pelvic-Phalangeal Dystrophy Short-Rib Thoracic Dysplasia Without Polydactyly Asphyxiating Thoracic Dystrophy Of The Newborn Asphyxiating Thorax Dystrophy
Fundus Dystrophy	Retinal Dystrophy Retinal Dystrophies Dystrophy, Retinal

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 (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS03096	CPLANE1 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Rattus norvegicus	CPLANE1	RGD	RGD:1310081
Mus musculus	CPLANE1	MGD	MGI:1920942
Canis familiaris	CPLANE1	VGNC	VGNC:51891
Felis catus	CPLANE1	VGNC	VGNC:61123
Macaca mulatta	CPLANE1	VGNC	VGNC:71578
Bos taurus	CPLANE1	VGNC	VGNC:59329
Others	CPLANE1	NCBI