TBCE - tubulin folding cofactor E Gene

Homo sapiens

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

Gene ID: 6905 | Gene type: protein coding

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

TBCE Protein Structure

CAP_GLY

Ubiquitin_2

0
100
200
300
400
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

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS14254	TBCE Human Pre-designed siRNA Set A		/	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