2. Gene
  3. CEP41 - centrosomal protein 41 Gene

CEP41 - centrosomal protein 41 Gene

  • Gene
  • Protein
  • Disease
  • Agent
  • Ortholog
Homo sapiens

Also known as JBTS15; TSGA14

Gene ID: 95681 | Gene type: protein coding

About CEP41

Cytogenetic location: 7q32.2 Genomic coordinates (GRCh38): 7:130,393,771-130,441,741 (from NCBI)

This gene has 36 transcripts (splice variants), 207 orthologues, 1 paralogue and is associated with 4 phenotypes. Broad expression in testis (RPKM 5.8), salivary gland (RPKM 3.3) and 23 other tissues.

Summary

This gene encodes a centrosomal and microtubule-binding protein which is predicted to have two coiled-coil domains and a rhodanese domain. In human retinal pigment epithelial cells the protein localized to centrioles and cilia. Mutations in this gene have been associated with Joubert Syndrome 15; an autosomal recessive ciliopathy and neurological disorder. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2012]

CEP41 Products(4)

mRNA Protein Name
NM_001257158.2 NP_001244087.1 centrosomal protein of 41 kDa isoform 2
NM_001257159.2 NP_001244088.1 centrosomal protein of 41 kDa isoform 3
NM_001257160.2 NP_001244089.1 centrosomal protein of 41 kDa isoform 4
NM_018718.3 NP_061188.1 centrosomal protein of 41 kDa isoform 1
Gene Ontology
  • Molecular Function
  • Biological Process
  • Cellular Component
Molecular Function GO Annotation Evidence Reference Source
enables protein binding IPI
IPI: Inferred from physical interaction
22246503 GOA
Biological Process GO Annotation Evidence Reference Source
involved in cilium assembly IMP
IMP: Inferred from mutant phenotype
22246503 GOA
Cellular Component GO Annotation Evidence Reference Source
located in centriole IDA
IDA: Inferred from direct assay
22246503 GOA
located in centrosome IDA
IDA: Inferred from direct assay
14654843 GOA
located in ciliary basal body IDA
IDA: Inferred from direct assay
22246503 GOA
located in cilium IDA
IDA: Inferred from direct assay
22246503 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

CEP41 Protein Structure

Rhodanese

Rhodanese: Rhodanese-like domain (172 - 255)

  • 0
  • 100
  • 200
  • 300
  • 373 a.a.
Protein Preferred Names Protein Names

centrosomal protein of 41 kDa

centrosomal protein 41 kDa

Related Diseases

Diseases Alias
Joubert Syndrome 15

JBTS15

Joubert Syndrome, Type 15
Joubert Syndrome 3

JBTS3

Joubert Syndrome With Ocular Defect

Joubert Syndrome With Ocular Anomalies

Js-O

Joubert Syndrome With Retinopathy

Joubert Syndrome-3

Joubert Syndrome, Type 3
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
Joubert Syndrome 21

JBTS21

Joubert Syndrome, Type 21
Joubert Syndrome 16

JBTS16

Joubert Syndrome, Type 16
Joubert Syndrome 23

JBTS23

Joubert Syndrome, Type 23
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia

X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type

X-Linked Dominant Chondrodysplasia-Hydrocephaly-Microphthalmia Syndrome

CDP-PBHM

Chondrodysplasia, With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Joubert Syndrome 26

JBTS26
Autism

Autistic Disorder

Autism Susceptibility 1

Childhood Autism

Autistic Disorder Of Childhood Onset

Infantile Autism

Kanner'S Syndrome

Autistic
Bardet-Biedl Syndrome

Bbs

Biedl-Bardet Syndrome
Polydactyly

Non-Syndromic Polydactyly

Polydactyly, Postaxial

Postaxial Polydactyly

Supernumerary Digit

Extra Digits

Hyperdactyly

Polydactylia

Polydactylism

Supernumerary Digits
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
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
Nephronophthisis

Medullary Cystic Disease

Medullary Cystic Kidney

Nph

Nphp

Kidney Disease, Cystic, Medullary
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
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
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-RS02514 CEP41 Human Pre-designed siRNA Set A Pre-designed Sets / Unkown

Orthologs Information

Species Symbol Source ID
Canis familiaris CEP41 VGNC VGNC:39128
Bos taurus CEP41 VGNC VGNC:27204
Macaca mulatta CEP41 VGNC VGNC:70937
Mus musculus CEP41 MGD MGI:1891414
Felis catus CEP41 VGNC VGNC:60774
Rattus norvegicus CEP41 RGD RGD:1562034