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

    Gene ID: 6905, updated on 7-Apr-2024

    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
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See TBCE in Genome Data Viewer
    Location:
    1q42.3
    Exon count:
    18
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (235367427..235452443)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (234759155..234848336)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (235530742..235615756)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene atrophin 1 pseudogene Neighboring gene uncharacterized LOC124904559 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:235530449-235531162 Neighboring gene MPRA-validated peak773 silencer Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:235563413-235563946 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr1:235605546-235606745 Neighboring gene ribosomal protein S21 pseudogene 1 Neighboring gene beta-1,3-N-acetylgalactosaminyltransferase 2 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:235639769-235640268 Neighboring gene MPRA-validated peak774 silencer Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:235667854-235668530 Neighboring gene MT-CYB pseudogene 14 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr1:235695340-235696539 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
    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

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Potential readthrough

    Included gene: GGPS1

    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

    Preferred Names
    tubulin-specific chaperone E

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_009230.2 RefSeqGene

      Range
      5002..90018
      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
      A8K8C2, B7Z3P1, Q15813
      UniProtKB/TrEMBL
      A0A2R8Y5Q8
      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/TrEMBL
      A0A2R8Y5Q8
      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_001287802.2NP_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: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
      A8K8C2, B7Z3P1, Q15813
      UniProtKB/TrEMBL
      A0A2R8Y5Q8
      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: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000001.11 Reference GRCh38.p14 Primary Assembly

      Range
      235367427..235452443
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p14 PATCHES

    Genomic

    1. NW_014040927.1 Reference GRCh38.p14 PATCHES

      Range
      7228..96035
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060925.1 Alternate T2T-CHM13v2.0

      Range
      234759155..234848336
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)