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

Gene ID: 6905, updated on 9-Feb-2020

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
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

Genomic context

See TBCE in Genome Data Viewer
Location:
1q42.3
Exon count:
18
Annotation release Status Assembly Chr Location
109.20191205 current GRCh38.p13 (GCF_000001405.39) 1 NC_000001.11 (235367360..235452443)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (235530728..235612280)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene AT-rich interaction domain 4B Neighboring gene atrophin 1 pseudogene Neighboring gene geranylgeranyl diphosphate synthase 1 Neighboring gene ribosomal protein S21 pseudogene 1 Neighboring gene beta-1,3-N-acetylgalactosaminyltransferase 2 Neighboring gene MT-CYB pseudogene 14 Neighboring gene MT-ND6 pseudogene 14

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
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
Kenny-Caffey syndrome type 1
MedGen: C1855648 OMIM: 244460 GeneReviews: Not available
Compare labs

NHGRI GWAS Catalog

Description
Genome-wide association scan meta-analysis identifies three Loci influencing adiposity and fat distribution.
NHGRI GWA Catalog

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Potential readthrough

Included gene: GGPS1

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
alpha-tubulin binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
chaperone binding TAS
Traceable Author Statement
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
microtubule cytoskeleton organization IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
microtubule cytoskeleton organization IMP
Inferred from Mutant Phenotype
more info
PubMed 
mitotic spindle organization IMP
Inferred from Mutant Phenotype
more info
PubMed 
post-chaperonin tubulin folding pathway IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
post-chaperonin tubulin folding pathway IDA
Inferred from Direct Assay
more info
PubMed 
protein folding TAS
Traceable Author Statement
more info
PubMed 
tubulin complex assembly IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
microtubule TAS
Traceable Author Statement
more info
PubMed 

General protein information

Preferred Names
tubulin-specific chaperone E
Names
hypoparathyroidism, growth and mental retardation, and dysmorphism

NCBI Reference Sequences (RefSeq)

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

  1. NG_009230.1 RefSeqGene

    Range
    4948..86556
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001079515.3NP_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
    Q15813
    Related
    ENSP00000384571.1, ENST00000406207.5
    Conserved Domains (6) summary
    smart01052
    Location:1075
    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:124267
    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:129154
    LRR_RI; leucine-rich repeat [structural motif]
    pfam12799
    Location:307346
    LRR_4; Leucine Rich repeats (2 copies)
    pfam13855
    Location:229289
    LRR_8; Leucine rich repeat
    cl00155
    Location:456525
    UBQ; Ubiquitin-like proteins
  2. NM_001287801.2NP_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/Swiss-Prot
    Q15813
    Related
    ENSP00000439170.1, ENST00000543662.4
    Conserved Domains (7) summary
    smart01052
    Location:1075
    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:124335
    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:129154
    LRR_RI; leucine-rich repeat [structural motif]
    pfam01249
    Location:234272
    Ribosomal_S21e; Ribosomal protein S21e
    pfam12799
    Location:358397
    LRR_4; Leucine Rich repeats (2 copies)
    pfam13855
    Location:280340
    LRR_8; Leucine rich repeat
    cl00155
    Location:507576
    UBQ; Ubiquitin-like proteins
  3. NM_001287802.1NP_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, U61232
    Consensus CDS
    CCDS86060.1
    UniProtKB/Swiss-Prot
    Q15813
    Related
    ENSP00000498645.1, ENST00000651186.1
    Conserved Domains (4) summary
    cd00116
    Location:4154
    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:1641
    LRR_RI; leucine-rich repeat [structural motif]
    pfam13855
    Location:116176
    LRR_8; Leucine rich repeat
    cl00155
    Location:343412
    UBQ; Ubiquitin-like proteins
  4. NM_003193.5NP_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
    Q15813
    Related
    ENSP00000494796.1, ENST00000642610.2
    Conserved Domains (6) summary
    smart01052
    Location:1075
    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:124267
    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:129154
    LRR_RI; leucine-rich repeat [structural motif]
    pfam12799
    Location:307346
    LRR_4; Leucine Rich repeats (2 copies)
    pfam13855
    Location:229289
    LRR_8; Leucine rich repeat
    cl00155
    Location:456525
    UBQ; Ubiquitin-like proteins

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20191205

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p13 Primary Assembly

    Range
    235367360..235452443
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p13 PATCHES

Genomic

  1. NW_014040927.1 Reference GRCh38.p13 PATCHES

    Range
    7161..96035
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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