TBCE tubulin folding cofactor E [Homo sapiens (human)] - Gene

Summary

Official Symbol: TBCEprovided by HGNC
Official Full Name: tubulin folding cofactor Eprovided by HGNC
Primary source: HGNC:HGNC:11582
See related: Ensembl:ENSG00000284770 MIM:604934; AllianceGenome:HGNC:11582
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: HRD; KCS; KCS1; pac2; PEAMO
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]
Expression: Ubiquitous expression in thyroid (RPKM 12.9), testis (RPKM 6.5) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 1q42.3

Exon count:: 18

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	1	NC_000001.11 (235367427..235452443)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	1	NC_060925.1 (234759155..234848336)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	1	NC_000001.10 (235530742..235615756)

Chromosome 1 - NC_000001.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Hypoparathyroidism-Retardation-Dysmorphism Syndrome due to a Variant in the Tubulin-Specific Chaperone E Gene as a Cause of Combined Immune Deficiency.
Title: Hypoparathyroidism-Retardation-Dysmorphism Syndrome due to a Variant in the Tubulin-Specific Chaperone E Gene as a Cause of Combined Immune Deficiency.
Defective proteasome biogenesis into skin fibroblasts isolated from Rett syndrome subjects with MeCP2 non-sense mutations.
Title: Defective proteasome biogenesis into skin fibroblasts isolated from Rett syndrome subjects with MeCP2 non-sense mutations.
Mutation analysis of the TBCE gene revealed the common 12-bp (155-166del) deletion in three new Sanjad-Sakati syndrome patients from Tunisia.
Title: Additional Tunisian patients with Sanjad-Sakati syndrome: A review toward a consensus on diagnostic criteria.
TBCE protein was localized in the middle region and in the tail of the sperm while in the oocyte the localization was cytosolic.
Title: Expression and localization of tubulin cofactors TBCD and TBCE in human gametes.
Although loss of function of TBCE has been documented to impact multiple developmental processes, the present findings provide evidence that hypomorphic TBCE mutations primarily drive neurodegeneration
Title: TBCE Mutations Cause Early-Onset Progressive Encephalopathy with Distal Spinal Muscular Atrophy.
Sanjad-Sakati syndrome molecular pathology has been shown to be due to mutations in the TBCE gene on chromosome 1q42-q43.
Title: Sanjad-Sakati syndrome in a Tunisian child.
the role of the human TBCE and TBCB chaperones in alpha-tubulin-beta-tubulin dissociation, was investigated.
Title: The structure of the complex between α-tubulin, TBCE and TBCB reveals a tubulin dimer dissociation mechanism.
Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
Observational study and genome-wide association study of gene-disease association. (HuGE Navigator)
Title: Human variation in alcohol response is influenced by variation in neuronal signaling genes.
tudies confirmed elevated expression of three target antigens RAB38, TBCE, and DUSP12 in CML.
Title: Efficacious immune therapy in chronic myelogenous leukemia (CML) recognizes antigens that are expressed on CML progenitor cells.

Submit: New GeneRIF Correction See all GeneRIFs (19)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Autosomal recessive Kenny-Caffey syndrome MedGen: C1855648 OMIM: 244460 GeneReviews: Not available	Compare labs
Encephalopathy, progressive, with amyotrophy and optic atrophy MedGen: C4310667 OMIM: 617207 GeneReviews: Not available	Compare labs
Hypoparathyroidism-retardation-dysmorphism syndrome MedGen: C1855840 OMIM: 241410 GeneReviews: Not available	Compare labs

EBI GWAS Catalog

Description
Genome-wide association scan meta-analysis identifies three Loci influencing adiposity and fat distribution. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

SGC38288 (e-PCR)
- UniSTS:3072

SHGC-148032 (e-PCR)
- UniSTS:176163

RH70688 (e-PCR)
- UniSTS:55679

AL010041 (e-PCR)
- UniSTS:76437

SHGC-76555 (e-PCR)
- UniSTS:8871

RH119203 (e-PCR)
- UniSTS:138712

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables alpha-tubulin binding	IBA Inferred from Biological aspect of Ancestor more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein-folding chaperone binding	TAS Traceable Author Statement more info	PubMed

Process	Evidence Code	Pubs
involved_in adult locomotory behavior	IEA Inferred from Electronic Annotation more info
involved_in developmental growth	IEA Inferred from Electronic Annotation more info
involved_in microtubule cytoskeleton organization	IBA Inferred from Biological aspect of Ancestor more info
involved_in microtubule cytoskeleton organization	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in mitotic spindle organization	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in muscle atrophy	IEA Inferred from Electronic Annotation more info
involved_in peripheral nervous system neuron axonogenesis	IEA Inferred from Electronic Annotation more info
involved_in post-chaperonin tubulin folding pathway	IBA Inferred from Biological aspect of Ancestor more info
involved_in post-chaperonin tubulin folding pathway	IDA Inferred from Direct Assay more info	PubMed
involved_in post-embryonic development	IEA Inferred from Electronic Annotation more info
involved_in protein folding	TAS Traceable Author Statement more info	PubMed
involved_in tubulin complex assembly	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info
located_in microtubule	TAS Traceable Author Statement more info	PubMed

General protein information

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Preferred Names: tubulin-specific chaperone E

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_009230.2 RefSeqGene

Range

5002..90018

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001079515.3 → NP_001072983.1 tubulin-specific chaperone E isoform a

See identical proteins and their annotated locations for NP_001072983.1

Status: REVIEWED

Description

Transcript Variant: This variant (1) encodes isoform (a). Both variants 1 and 2 encode the same isoform.

Source sequence(s)

BF064027, CB110473, DA981183, FO393422, U61232

Consensus CDS

CCDS1605.1

UniProtKB/Swiss-Prot

A8K8C2, B7Z3P1, Q15813

UniProtKB/TrEMBL

A0A2R8Y5Q8

Related

ENSP00000384571.1, ENST00000406207.5

Conserved Domains (6) summary

smart01052
Location:10 → 75

CAP_GLY; Cytoskeleton-associated proteins (CAPs) are involved in the organisation of microtubules and transportation of vesicles and organelles along the cytoskeletal network

cd00116
Location:124 → 267

LRR_RI; Leucine-rich repeats (LRRs), ribonuclease inhibitor (RI)-like subfamily. LRRs are 20-29 residue sequence motifs present in many proteins that participate in protein-protein interactions and have different functions and cellular locations. LRRs correspond ...

sd00033
Location:129 → 154

LRR_RI; leucine-rich repeat [structural motif]

pfam12799
Location:307 → 346

LRR_4; Leucine Rich repeats (2 copies)

pfam13855
Location:229 → 289

LRR_8; Leucine rich repeat

cl00155
Location:456 → 525

UBQ; Ubiquitin-like proteins
NM_001287801.2 → NP_001274730.1 tubulin-specific chaperone E isoform b

See identical proteins and their annotated locations for NP_001274730.1

Status: REVIEWED

Description

Transcript Variant: This variant (3) differs in the 5' UTR and contains an alternate in-frame exon in the central coding region, compared to variant 1. The encoded isoform (b) is longer than isoform a.

Source sequence(s)

AK296185, BF064027, CB110473, FO393422

Consensus CDS

CCDS73052.1

UniProtKB/TrEMBL

A0A2R8Y5Q8

Related

ENSP00000439170.1, ENST00000543662.4

Conserved Domains (7) summary

smart01052
Location:10 → 75

CAP_GLY; Cytoskeleton-associated proteins (CAPs) are involved in the organisation of microtubules and transportation of vesicles and organelles along the cytoskeletal network

cd00116
Location:124 → 335

LRR_RI; Leucine-rich repeats (LRRs), ribonuclease inhibitor (RI)-like subfamily. LRRs are 20-29 residue sequence motifs present in many proteins that participate in protein-protein interactions and have different functions and cellular locations. LRRs correspond ...

sd00033
Location:129 → 154

LRR_RI; leucine-rich repeat [structural motif]

pfam01249
Location:234 → 272

Ribosomal_S21e; Ribosomal protein S21e

pfam12799
Location:358 → 397

LRR_4; Leucine Rich repeats (2 copies)

pfam13855
Location:280 → 340

LRR_8; Leucine rich repeat

cl00155
Location:507 → 576

UBQ; Ubiquitin-like proteins
NM_001287802.2 → NP_001274731.1 tubulin-specific chaperone E isoform c

See identical proteins and their annotated locations for NP_001274731.1

Status: REVIEWED

Description

Transcript Variant: This variant (4) differs in its 5' UTR, initiates translation at an alternate start codon, compared to variant 1. The encoded isoform (c) has a shorter and distinct N-terminus, compared to isoform a.

Source sequence(s)

AK093397, BF064027, CB110473, FO393422, U61232

Consensus CDS

CCDS86060.1

UniProtKB/TrEMBL

A0A2R8Y6Q1, A0A2R8Y7E7

Related

ENSP00000498645.1, ENST00000651186.1

Conserved Domains (4) summary

cd00116
Location:4 → 154

LRR_RI; Leucine-rich repeats (LRRs), ribonuclease inhibitor (RI)-like subfamily. LRRs are 20-29 residue sequence motifs present in many proteins that participate in protein-protein interactions and have different functions and cellular locations. LRRs correspond ...

sd00033
Location:16 → 41

LRR_RI; leucine-rich repeat [structural motif]

pfam13855
Location:116 → 176

LRR_8; Leucine rich repeat

cl00155
Location:343 → 412

UBQ; Ubiquitin-like proteins
NM_003193.5 → NP_003184.1 tubulin-specific chaperone E isoform a

See identical proteins and their annotated locations for NP_003184.1

Status: REVIEWED

Description

Transcript Variant: This variant (2) differs in the 5' UTR, compared to variant 1. Both variants 1 and 2 encode the same isoform (a).

Source sequence(s)

BF064027, CB110473, FO393422, U61232

Consensus CDS

CCDS1605.1

UniProtKB/Swiss-Prot

A8K8C2, B7Z3P1, Q15813

UniProtKB/TrEMBL

A0A2R8Y5Q8

Related

ENSP00000494796.1, ENST00000642610.2

Conserved Domains (6) summary

smart01052
Location:10 → 75

CAP_GLY; Cytoskeleton-associated proteins (CAPs) are involved in the organisation of microtubules and transportation of vesicles and organelles along the cytoskeletal network

cd00116
Location:124 → 267

LRR_RI; Leucine-rich repeats (LRRs), ribonuclease inhibitor (RI)-like subfamily. LRRs are 20-29 residue sequence motifs present in many proteins that participate in protein-protein interactions and have different functions and cellular locations. LRRs correspond ...

sd00033
Location:129 → 154

LRR_RI; leucine-rich repeat [structural motif]

pfam12799
Location:307 → 346

LRR_4; Leucine Rich repeats (2 copies)

pfam13855
Location:229 → 289

LRR_8; Leucine rich repeat

cl00155
Location:456 → 525

UBQ; Ubiquitin-like proteins