TBCE - tubulin folding cofactor E Gene

Also Known as HRD; KCS; KCS1; pac2; PEAMO

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 6905

About TBCE

Cytogenetic location: 1q42.3 Genomic coordinates (GRCh38): 1:235,367,427-235,452,443 (from NCBI)

This gene has 57 transcripts (splice variants), 218 orthologues, 1 paralogue and is associated with 8 phenotypes. Ubiquitous expression in thyroid (RPKM 12.9), testis (RPKM 6.5) and 25 other tissues.

Summary

Cofactor E is one of four proteins (cofactors A, D, E, and C) involved in the pathway leading to correctly folded beta-tubulin from folding intermediates. Cofactors A and D are believed to play a role in capturing and stabilizing beta-tubulin intermediates in a quasi-native confirmation. Cofactor E binds to the cofactor D/beta-tubulin complex; interaction with cofactor C then causes the release of beta-tubulin polypeptides that are committed to the native state. Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008]

TBCE Products (4)

mRNA	Protein	Name
NM_001079515.3	NP_001072983.1	tubulin-specific chaperone E isoform a
NM_001287801.2	NP_001274730.1	tubulin-specific chaperone E isoform b
NM_001287802.2	NP_001274731.1	tubulin-specific chaperone E isoform c
NM_003193.5	NP_003184.1	tubulin-specific chaperone E isoform a

Gene Ontology

Molecular Function
Biological Process

Molecular Function GO Annotation	Evidence	References	Source
enables protein binding	IPI IPI: Inferred from physical interaction	27666374	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in microtubule cytoskeleton organization	IMP IMP: Inferred from mutant phenotype	27666369	GOA
involved in mitotic spindle organization	IMP IMP: Inferred from mutant phenotype	27666369	GOA
involved in post-chaperonin tubulin folding pathway	IDA IDA: Inferred from direct assay	11847227	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

TBCE Protein Structure

CAP_GLY

Ubiquitin_2

0
100
200
300
400
500
527 a.a.

Protein Preferred Names	Protein Names
tubulin-specific chaperone E

Related Diseases

Diseases	Alias
Encephalopathy, Progressive, With Amyotrophy And Optic Atrophy	PEAMO Early-Onset Progressive Encephalopathy-Spastic Ataxia-Distal Spinal Muscular Atrophy Syndrome
Hypoparathyroidism-Retardation-Dysmorphism Syndrome	Sanjad-Sakati Syndrome Hrd Syndrome HRDS Hypoparathyroidism-Intellectual Disability-Dysmorphism Syndrome Hypoparathyroidism-Short Stature-Intellectual Disability-Seizures Syndrome Richardson-Kirk Syndrome Sss Hypoparathyroidism With Short Stature, Mental Retardation, And Seizures Hypoparathyroidism, Congenital, Associated With Dysmorphism, Growth Retardation, And Developmental Delay Hypoparathyroidism With Short Stature, Mental Retardation And Seizures Hypoparathyroidism With Short Stature, Intellectual Disability And Seizures Hypoparathyroidism, Congenital, Associated With Dysmorphism, Growth Retardation And Developmental Delay
Kenny-Caffey Syndrome, Type 1	KCS1 Kenny-Caffey Syndrome Type 1 Autosomal Recessive Kenny-Caffey Syndrome Kcs Kenny-Caffey Syndrome, Autosomal Recessive Kenny-Caffey Syndrome 1 Kenny-Caffey Syndrome Autosomal Recessive Kenny-Caffey Syndrome-1
Muscular Dystrophy-Dystroglycanopathy , Type A, 11	MDDGA11 Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies, Type A, 11 Walker-Warburg Syndrome Or Muscle-Eye-Brain Disease, B3galnt2-Related Muscular Dystrophy-Dystroglycanopathy Congenital With Brain And Eye Anomalies A11 Walker-Warburg Syndrome Or Muscle-Eye-Brain Disease B3galnt2-Related
Congenital Muscular Dystrophy-Dystroglycanopathy Type A11	Congenital Muscular Dystrophy-Dystroglycanopathy With Brain And Eye Anomalies Type A11 Mddga11 Walker-Warburg Syndrome Or Muscle-Eye-Brain Disease B3galnt2-Related Congenital Muscular Dystrophy-Dystroglycanopathy With Brain And Eye Anomalies, Type A11
Kenny-Caffey Syndrome	Kenny Syndrome
Hypoparathyroidism	Hypoparathyroidism, Idiopathic Parathyroid, Underactivity Of Syndrome With Hypoparathyroidism Deficiency Of Parathyroid Hormone Parathyroid Gland Insufficiency Parathyroid Insufficiency Hypoparathyroidism Due To Impaired Pth - [Parathyroid Hormone] Secretion
Disorder Of Sexual Development	Disorder Of Sex Development Disorders Of Sex Development Sex Development Disorder Sex Differentiation Disease Dsd Sex Differentiation Disorders
Spinal Muscular Atrophy	Sma 5q Sma Proximal Sma Sma-Associated Sma Spinal Amyotrophies Spinal Amyotrophy Spinal Muscle Degeneration Spinal Muscle Wasting Muscular Atrophy Spinal Atrophy, Muscular, Spinal Hereditary Motor Neuronopathy Progressive Muscular Atrophy Sma - [Spinal Muscular Atrophy]
Muscular Atrophy	Muscle Wasting Amyotrophia Wasting - Muscle Skeletal Muscle Atrophy
Newfoundland Rod-Cone Dystrophy	Newfoundland Cone-Rod Dystrophy NFRCD Rod-Cone Dystrophy Newfoundland
Subclavian Steal Syndrome	Subclavian Artery Stenosis Subclavian Steal Phenomenon Subclavian Steal Steno-Occlusive Disease Subclavian Steal
Nanophthalmos	Nanophthalmia
Microcephaly	Microencephaly Microcephalus Microcephalic Nanocephaly Congenital Microcephaly Brain Hypoplasia Brain Nondevelopment Cephalic Hypoplasia Undeveloped Cerebrum Undeveloped Brain Micrencephalon Micrencephaly
Hereditary Breast Ovarian Cancer Syndrome	Hereditary Breast And Ovarian Cancer Syndrome Brca1- And Brca2-Associated Hereditary Breast And Ovarian Cancer Breast And/Or Ovarian Cancer Breast And Ovarian Cancer Syndrome Hboc Syndrome Hereditary Breast And Ovarian Cancer Brca1- Brca2-Associated Hboc
Osteochondrodysplasia	Skeletal Dysplasia Chondrodystrophy Congenital Anomaly Of Cartilage Osteochondrodysplasias Cartilage Development Disorder Osteochondrodysplasia Syndrome Dysplasia, Skeletal Mucopolysaccharidosis Iv

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-RS14254	TBCE Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Bos taurus	TBCE	VGNC	VGNC:35653
Canis familiaris	TBCE	VGNC	VGNC:47157
Rattus norvegicus	TBCE	RGD	RGD:1305533
Mus musculus	TBCE	MGD	MGI:1917680