Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.
Entry version 158 (18 Sep 2019)
Sequence version 2 (18 May 2010)
Previous versions | rss
Help videoAdd a publicationFeedback
Protein

Tubulin-specific chaperone D

Gene

TBCD

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the ‘protein existence’ evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

Tubulin-folding protein implicated in the first step of the tubulin folding pathway and required for tubulin complex assembly. Involved in the regulation of microtubule polymerization or depolymerization, it modulates microtubule dynamics by capturing GTP-bound beta-tubulin (TUBB). Its ability to interact with beta tubulin is regulated via its interaction with ARL2. Acts as a GTPase-activating protein (GAP) for ARL2. Induces microtubule disruption in absence of ARL2. Increases degradation of beta tubulin, when overexpressed in polarized cells. Promotes epithelial cell detachment, a process antagonized by ARL2. Induces tight adherens and tight junctions disassembly at the lateral cell membrane (PubMed:10722852, PubMed:10831612, PubMed:11847227, PubMed:20740604, PubMed:27666370, PubMed:28158450). Required for correct assembly and maintenance of the mitotic spindle, and proper progression of mitosis (PubMed:27666370). Involved in neuron morphogenesis (PubMed:27666374).7 Publications

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

GO - Biological processi

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

Molecular functionChaperone, GTPase activation

Enzyme and pathway databases

Reactome - a knowledgebase of biological pathways and processes

More...
Reactomei
R-HSA-389977 Post-chaperonin tubulin folding pathway

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
Tubulin-specific chaperone D
Alternative name(s):
Beta-tubulin cofactor D
Short name:
tfcD
SSD-1
Tubulin-folding cofactor D
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: ‘Name’, ‘Synonyms’, ‘Ordered locus names’ and ‘ORF names’.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:TBCD
Synonyms:KIAA0988, SSD1, TFCD
ORF Names:PP1096
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the ‘taxonomic identifier’ or ‘taxid’.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes_manual">proteome</a> can consist of several components. <br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 17

Organism-specific databases

Human Gene Nomenclature Database

More...
HGNCi
HGNC:11581 TBCD

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
604649 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q9BTW9

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte & Seán O’Donoghue; Source: COMPARTMENTS

Keywords - Cellular componenti

Cell junction, Cell membrane, Cytoplasm, Cytoskeleton, Membrane, Tight junction

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the ‘Pathology and Biotech’ section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>Involvement in diseasei

Encephalopathy, progressive, early-onset, with brain atrophy and thin corpus callosum (PEBAT)4 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn autosomal recessive disease with neurodevelopmental and neurodegenerative features. PEBAT is characterized by early-onset cortical atrophy, hypomyelination, microcephaly, thin corpus callosum, delayed psychomotor development, developmental regression, intellectual disability, seizures, optic atrophy, muscle weakness and atrophy, spastic quadriplegia, and respiratory insufficiency due to hypotonia.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_077968229L → R in PEBAT. 1 PublicationCorresponds to variant dbSNP:rs778417127EnsemblClinVar.1
Natural variantiVAR_077969374T → M in PEBAT; severely decreased interaction with beta tubulin; does not affect localization to centrosome. 1 PublicationCorresponds to variant dbSNP:rs953299085Ensembl.1
Natural variantiVAR_077970377R → Q in PEBAT; decreased protein abundance; severely decreased interaction with beta tubulin; does not affect localization to centrosome. 1 PublicationCorresponds to variant dbSNP:rs764085684EnsemblClinVar.1
Natural variantiVAR_077971387M → R in PEBAT; decreased function in neuron morphogenesis; severely decreased interaction with ARL2; decreased interaction with TBCE; decreased interaction with beta tubulin. 1 PublicationCorresponds to variant dbSNP:rs886041086EnsemblClinVar.1
Natural variantiVAR_077972475A → T in PEBAT; decreased function in tubulin complex assembly; increased protein degradation. 2 PublicationsCorresponds to variant dbSNP:rs775014444EnsemblClinVar.1
Natural variantiVAR_077973586A → V in PEBAT; decreased function in tubulin complex assembly. 2 Publications1
Natural variantiVAR_077974626A → T in PEBAT; decreased protein abundance; does not affect localization to centrosome. 1 PublicationCorresponds to variant dbSNP:rs749225304EnsemblClinVar.1
Natural variantiVAR_077975772R → C in PEBAT; decreased function in neuron morphogenesis; decreased interaction with ARL2; decreased interaction with TBCE; decreased interaction with beta tubulin. 1 PublicationCorresponds to variant dbSNP:rs181969865EnsemblClinVar.1
Natural variantiVAR_077976921A → T in PEBAT; decreased interaction with ARL2; decreased interaction with TBCE; decreased interaction with beta tubulin. 1 PublicationCorresponds to variant dbSNP:rs886041085EnsemblClinVar.1
Natural variantiVAR_077977937P → R in PEBAT; decreased interaction with TBCE; decreased interaction with beta tubulin; does not affect interaction with ARL2. 2 PublicationsCorresponds to variant dbSNP:rs886041087EnsemblClinVar.1
Natural variantiVAR_077978994T → M in PEBAT; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs867484272Ensembl.1
Natural variantiVAR_0779791105V → M in PEBAT; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs764003906Ensembl.1
Natural variantiVAR_0779801122P → L in PEBAT; severely decreased protein abundance; does not affect localization to centrosome; decreased interaction with ARL2; decreased interaction with TBCE; decreased interaction with beta tubulin. 2 PublicationsCorresponds to variant dbSNP:rs755177846EnsemblClinVar.1

Keywords - Diseasei

Disease mutation, Neurodegeneration

Organism-specific databases

DisGeNET

More...
DisGeNETi
6904

MalaCards human disease database

More...
MalaCardsi
TBCD
MIMi617193 phenotype

Open Targets

More...
OpenTargetsi
ENSG00000141556

Orphanet; a database dedicated to information on rare diseases and orphan drugs

More...
Orphaneti
496641 Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA36345

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
TBCD

Domain mapping of disease mutations (DMDM)

More...
DMDMi
296452924

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section describes the extent of a polypeptide chain in the mature protein following processing.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00000800491 – 1192Tubulin-specific chaperone DAdd BLAST1192

Proteomic databases

Encyclopedia of Proteome Dynamics

More...
EPDi
Q9BTW9

jPOST - Japan Proteome Standard Repository/Database

More...
jPOSTi
Q9BTW9

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...
MassIVEi
Q9BTW9

MaxQB - The MaxQuant DataBase

More...
MaxQBi
Q9BTW9

PaxDb, a database of protein abundance averages across all three domains of life

More...
PaxDbi
Q9BTW9

PeptideAtlas

More...
PeptideAtlasi
Q9BTW9

PRoteomics IDEntifications database

More...
PRIDEi
Q9BTW9

ProteomicsDB human proteome resource

More...
ProteomicsDBi
79016 [Q9BTW9-1]
79017 [Q9BTW9-2]
79018 [Q9BTW9-3]
79019 [Q9BTW9-4]
79020 [Q9BTW9-5]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
Q9BTW9

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

More...
PhosphoSitePlusi
Q9BTW9

SwissPalm database of S-palmitoylation events

More...
SwissPalmi
Q9BTW9

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

<p>This subsection of the ‘Expression’ section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified ‘at protein level’. <br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>Tissue specificityi

Ubiquitously expressed.2 Publications

<p>This subsection of the ‘Expression’ section reports the experimentally proven effects of inducers and repressors (usually chemical compounds or environmental factors) on the level of protein (or mRNA) expression (up-regulation, down-regulation, constitutive expression).<p><a href='/help/induction' target='_top'>More...</a></p>Inductioni

Down-regulated by shear stress.1 Publication

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000141556 Expressed in 217 organ(s), highest expression level in right lobe of thyroid gland

ExpressionAtlas, Differential and Baseline Expression

More...
ExpressionAtlasi
Q9BTW9 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...
Genevisiblei
Q9BTW9 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
HPA045200

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction_section">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function_section">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Found in a complex with at least ARL2, PPP2CB, PPP2R1A, PPP2R2A, PPP2R5E and TBCD.

Interacts with PPP2CB (By similarity).

Part of a supercomplex made of cofactors A to E. Cofactors A and D function by capturing and stabilizing tubulin in a quasi-native conformation. Cofactor E binds to the cofactor D-tubulin complex; interaction with cofactor C then causes the release of tubulin polypeptides that are committed to the native state (PubMed:10831612).

Interacts with ARL2; interaction is enhanced with the GDP-bound form of ARL2 (PubMed:10831612, PubMed:27666374). Does not interact with ARL3, ARL4A and ARL4D (PubMed:10831612).

Interacts with beta tubulin (PubMed:10831612, PubMed:27666370, PubMed:27666374).

Interacts with TBCE (PubMed:27666374).

By similarity3 Publications

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction_section%27">Interaction</a> section provides information about binary protein-protein interactions. The data presented in this section are a quality-filtered subset of binary interactions automatically derived from the <a href="http://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated on a monthly basis. Each binary interaction is displayed on a separate line.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

WithEntry#Exp.IntActNotes
ACDQ96AP02EBI-356005,EBI-717666

GO - Molecular functioni

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

More...
BioGridi
112767, 64 interactors

CORUM comprehensive resource of mammalian protein complexes

More...
CORUMi
Q9BTW9

Protein interaction database and analysis system

More...
IntActi
Q9BTW9, 26 interactors

Molecular INTeraction database

More...
MINTi
Q9BTW9

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000347719

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and Domains’ section indicates the positions and types of repeated sequence motifs or repeated domains within the protein.<p><a href='/help/repeat' target='_top'>More...</a></p>Repeati361 – 399HEAT 1Add BLAST39
Repeati557 – 594HEAT 2Add BLAST38
Repeati596 – 632HEAT 3Add BLAST37

<p>This subsection of the ‘Family and domains’ section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Belongs to the TBCD family.Curated

Keywords - Domaini

Repeat

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
KOG1943 Eukaryota
COG5234 LUCA

Ensembl GeneTree

More...
GeneTreei
ENSGT00390000017103

InParanoid: Eukaryotic Ortholog Groups

More...
InParanoidi
Q9BTW9

KEGG Orthology (KO)

More...
KOi
K21767

Database of Orthologous Groups

More...
OrthoDBi
79003at2759

Database for complete collections of gene phylogenies

More...
PhylomeDBi
Q9BTW9

TreeFam database of animal gene trees

More...
TreeFami
TF105754

Family and domain databases

Gene3D Structural and Functional Annotation of Protein Families

More...
Gene3Di
1.25.10.10, 1 hit

Integrated resource of protein families, domains and functional sites

More...
InterProi
View protein in InterPro
IPR011989 ARM-like
IPR016024 ARM-type_fold
IPR033162 TBCD
IPR022577 Tubulin_specific_chaperoneD_C

The PANTHER Classification System

More...
PANTHERi
PTHR12658 PTHR12658, 1 hit

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF12612 TFCD_C, 1 hit

Superfamily database of structural and functional annotation

More...
SUPFAMi
SSF48371 SSF48371, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (5+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

This entry describes 5 <p>This subsection of the ‘Sequence’ section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 5 described isoforms and 18 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: Q9BTW9-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the <div> <p><b>What is the canonical sequence?</b><p><a href='/help/canonical_and_isoforms' target='_top'>More...</a></p>canonicali sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide
        10         20         30         40         50
MALSDEPAAG GPEEEAEDET LAFGAALEAF GESAETRALL GRLREVHGGG
60 70 80 90 100
AEREVALERF RVIMDKYQEQ PHLLDPHLEW MMNLLLDIVQ DQTSPASLVH
110 120 130 140 150
LAFKFLYIIT KVRGYKTFLR LFPHEVADVE PVLDLVTIQN PKDHEAWETR
160 170 180 190 200
YMLLLWLSVT CLIPFDFSRL DGNLLTQPGQ ARMSIMDRIL QIAESYLIVS
210 220 230 240 250
DKARDAAAVL VSRFITRPDV KQSKMAEFLD WSLCNLARSS FQTMQGVITM
260 270 280 290 300
DGTLQALAQI FKHGKREDCL PYAATVLRCL DGCRLPESNQ TLLRKLGVKL
310 320 330 340 350
VQRLGLTFLK PKVAAWRYQR GCRSLAANLQ LLTQGQSEQK PLILTEDDDE
360 370 380 390 400
DDDVPEGVER VIEQLLVGLK DKDTVVRWSA AKGIGRMAGR LPRALADDVV
410 420 430 440 450
GSVLDCFSFQ ETDKAWHGGC LALAELGRRG LLLPSRLVDV VAVILKALTY
460 470 480 490 500
DEKRGACSVG TNVRDAACYV CWAFARAYEP QELKPFVTAI SSALVIAAVF
510 520 530 540 550
DRDINCRRAA SAAFQENVGR QGTFPHGIDI LTTADYFAVG NRSNCFLVIS
560 570 580 590 600
VFIAGFPEYT QPMIDHLVTM KISHWDGVIR ELAARALHNL AQQAPEFSAT
610 620 630 640 650
QVFPRLLSMT LSPDLHMRHG SILACAEVAY ALYKLAAQEN RPVTDHLDEQ
660 670 680 690 700
AVQGLKQIHQ QLYDRQLYRG LGGQLMRQAV CVLIEKLSLS KMPFRGDTVI
710 720 730 740 750
DGWQWLINDT LRHLHLISSH SRQQMKDAAV SALAALCSEY YMKEPGEADP
760 770 780 790 800
AIQEELITQY LAELRNPEEM TRCGFSLALG ALPGFLLKGR LQQVLTGLRA
810 820 830 840 850
VTHTSPEDVS FAESRRDGLK AIARICQTVG VKAGAPDEAV CGENVSQIYC
860 870 880 890 900
ALLGCMDDYT TDSRGDVGTW VRKAAMTSLM DLTLLLARSQ PELIEAHTCE
910 920 930 940 950
RIMCCVAQQA SEKIDRFRAH AASVFLTLLH FDSPPIPHVP HRGELEKLFP
960 970 980 990 1000
RSDVASVNWS APSQAFPRIT QLLGLPTYRY HVLLGLVVSL GGLTESTIRH
1010 1020 1030 1040 1050
STQSLFEYMK GIQSDPQALG SFSGTLLQIF EDNLLNERVS VPLLKTLDHV
1060 1070 1080 1090 1100
LTHGCFDIFT TEEDHPFAVK LLALCKKEIK NSKDIQKLLS GIAVFCEMVQ
1110 1120 1130 1140 1150
FPGDVRRQAL LQLCLLLCHR FPLIRKTTAS QVYETLLTYS DVVGADVLDE
1160 1170 1180 1190
VVTVLSDTAW DAELAVVREQ RNRLCDLLGV PRPQLVPQPG AC
Length:1,192
Mass (Da):132,600
Last modified:May 18, 2010 - v2
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> Checksum:iC46BE2048A5FEBC2
GO
Isoform 2 (identifier: Q9BTW9-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-1008: Missing.

Note: No experimental confirmation available.
Show »
Length:184
Mass (Da):20,490
Checksum:i93591120628A7A54
GO
Isoform 3 (identifier: Q9BTW9-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-546: Missing.
     547-549: LVI → MFN
     662-697: LYDRQLYRGLGGQLMRQAVCVLIEKLSLSKMPFRGD → PCICSWGLMSPESKAEFCVCVCRISLGRQCVHLSGL
     698-1192: Missing.

Show »
Length:151
Mass (Da):16,862
Checksum:i327EBC8C058A1F63
GO
Isoform 4 (identifier: Q9BTW9-4) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1094-1094: V → VDFPSATLVCVGTVQMYAHTHLRLGAPGPHCAHGSAMPR
     1182-1192: RPQLVPQPGAC → SPTWCPAWCLLKPVLEPIPHPCLVRMSCS

Note: No experimental confirmation available.
Show »
Length:1,248
Mass (Da):138,669
Checksum:iC4677BCAFB301E0A
GO
Isoform 5 (identifier: Q9BTW9-5) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     62-78: Missing.
     739-1156: Missing.

Note: No experimental confirmation available.
Show »
Length:757
Mass (Da):84,263
Checksum:i1EBCE9E996D5C8C8
GO

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There are 18 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
J3KR97J3KR97_HUMAN
Tubulin-specific chaperone D
TBCD
1,230Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
I3L0V3I3L0V3_HUMAN
Tubulin-specific chaperone D
TBCD
237Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
I3L131I3L131_HUMAN
Tubulin-specific chaperone D
TBCD
141Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
I3L143I3L143_HUMAN
Tubulin-specific chaperone D
TBCD
211Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
I3L163I3L163_HUMAN
Tubulin-specific chaperone D
TBCD
244Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
I3L3H4I3L3H4_HUMAN
Tubulin-specific chaperone D
TBCD
134Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
I3L439I3L439_HUMAN
Tubulin-specific chaperone D
TBCD
256Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
I3L4D2I3L4D2_HUMAN
Tubulin-specific chaperone D
TBCD
109Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
I3L500I3L500_HUMAN
Tubulin-specific chaperone D
TBCD
251Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
I3L120I3L120_HUMAN
Tubulin-specific chaperone D
TBCD
260Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
There are more potential isoformsShow all

<p>This subsection of the ‘Sequence’ section reports difference(s) between the protein sequence shown in the UniProtKB entry and other available protein sequences derived from the same gene.<p><a href='/help/sequence_caution' target='_top'>More...</a></p>Sequence cautioni

The sequence AAH39654 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated
The sequence BAA76832 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>Sequence conflicti31G → S in CAA07022 (PubMed:11110777).Curated1
Sequence conflicti472W → C in BAA76832 (PubMed:10231032).Curated1
Sequence conflicti799 – 801RAV → GAL in CAA07022 (PubMed:11110777).Curated3
Sequence conflicti985G → R in CAA07022 (PubMed:11110777).Curated1
Sequence conflicti1068A → S in AAH12824 (PubMed:15489334).Curated1
Sequence conflicti1075C → V in CAA07022 (PubMed:11110777).Curated1
Sequence conflicti1097E → G in CAA07022 (PubMed:11110777).Curated1
Sequence conflicti1097E → G in BAA76832 (PubMed:10231032).Curated1
Sequence conflicti1097E → G in AAH03094 (PubMed:15489334).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_077968229L → R in PEBAT. 1 PublicationCorresponds to variant dbSNP:rs778417127EnsemblClinVar.1
Natural variantiVAR_077969374T → M in PEBAT; severely decreased interaction with beta tubulin; does not affect localization to centrosome. 1 PublicationCorresponds to variant dbSNP:rs953299085Ensembl.1
Natural variantiVAR_077970377R → Q in PEBAT; decreased protein abundance; severely decreased interaction with beta tubulin; does not affect localization to centrosome. 1 PublicationCorresponds to variant dbSNP:rs764085684EnsemblClinVar.1
Natural variantiVAR_077971387M → R in PEBAT; decreased function in neuron morphogenesis; severely decreased interaction with ARL2; decreased interaction with TBCE; decreased interaction with beta tubulin. 1 PublicationCorresponds to variant dbSNP:rs886041086EnsemblClinVar.1
Natural variantiVAR_077972475A → T in PEBAT; decreased function in tubulin complex assembly; increased protein degradation. 2 PublicationsCorresponds to variant dbSNP:rs775014444EnsemblClinVar.1
Natural variantiVAR_077973586A → V in PEBAT; decreased function in tubulin complex assembly. 2 Publications1
Natural variantiVAR_057264617M → T1 PublicationCorresponds to variant dbSNP:rs2292971Ensembl.1
Natural variantiVAR_077974626A → T in PEBAT; decreased protein abundance; does not affect localization to centrosome. 1 PublicationCorresponds to variant dbSNP:rs749225304EnsemblClinVar.1
Natural variantiVAR_077975772R → C in PEBAT; decreased function in neuron morphogenesis; decreased interaction with ARL2; decreased interaction with TBCE; decreased interaction with beta tubulin. 1 PublicationCorresponds to variant dbSNP:rs181969865EnsemblClinVar.1
Natural variantiVAR_077976921A → T in PEBAT; decreased interaction with ARL2; decreased interaction with TBCE; decreased interaction with beta tubulin. 1 PublicationCorresponds to variant dbSNP:rs886041085EnsemblClinVar.1
Natural variantiVAR_057265923S → N. Corresponds to variant dbSNP:rs3214033Ensembl.1
Natural variantiVAR_077977937P → R in PEBAT; decreased interaction with TBCE; decreased interaction with beta tubulin; does not affect interaction with ARL2. 2 PublicationsCorresponds to variant dbSNP:rs886041087EnsemblClinVar.1
Natural variantiVAR_057266943G → V. Corresponds to variant dbSNP:rs8072406Ensembl.1
Natural variantiVAR_077978994T → M in PEBAT; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs867484272Ensembl.1
Natural variantiVAR_0779791105V → M in PEBAT; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs764003906Ensembl.1
Natural variantiVAR_0779801122P → L in PEBAT; severely decreased protein abundance; does not affect localization to centrosome; decreased interaction with ARL2; decreased interaction with TBCE; decreased interaction with beta tubulin. 2 PublicationsCorresponds to variant dbSNP:rs755177846EnsemblClinVar.1
Natural variantiVAR_0572671185L → P. Corresponds to variant dbSNP:rs2292969Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_0172101 – 1008Missing in isoform 2. 1 PublicationAdd BLAST1008
Alternative sequenceiVSP_0172111 – 546Missing in isoform 3. 1 PublicationAdd BLAST546
Alternative sequenceiVSP_01721262 – 78Missing in isoform 5. 1 PublicationAdd BLAST17
Alternative sequenceiVSP_017215547 – 549LVI → MFN in isoform 3. 1 Publication3
Alternative sequenceiVSP_017213662 – 697LYDRQ…PFRGD → PCICSWGLMSPESKAEFCVC VCRISLGRQCVHLSGL in isoform 3. 1 PublicationAdd BLAST36
Alternative sequenceiVSP_017214698 – 1192Missing in isoform 3. 1 PublicationAdd BLAST495
Alternative sequenceiVSP_017216739 – 1156Missing in isoform 5. 1 PublicationAdd BLAST418
Alternative sequenceiVSP_0172171094V → VDFPSATLVCVGTVQMYAHT HLRLGAPGPHCAHGSAMPR in isoform 4. 1 Publication1
Alternative sequenceiVSP_0172181182 – 1192RPQLVPQPGAC → SPTWCPAWCLLKPVLEPIPH PCLVRMSCS in isoform 4. 1 PublicationAdd BLAST11

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...
EMBLi

GenBank nucleotide sequence database

More...
GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...
DDBJi
Links Updated
AJ006417 mRNA Translation: CAA07022.1
AF193042 mRNA Translation: AAG22470.1
AB023205 mRNA Translation: BAA76832.2 Different initiation.
AK091959 mRNA Translation: BAC03777.1
AL133562 mRNA Translation: CAB63716.1
AL096745 mRNA Translation: CAB62532.2
AC024361 Genomic DNA No translation available.
AC068014 Genomic DNA No translation available.
AC068584 Genomic DNA No translation available.
AC087222 Genomic DNA No translation available.
AC130371 Genomic DNA No translation available.
BC003094 mRNA Translation: AAH03094.1
BC012824 mRNA Translation: AAH12824.2
BC039654 mRNA Translation: AAH39654.1 Different initiation.

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS45818.1 [Q9BTW9-1]

Protein sequence database of the Protein Information Resource

More...
PIRi
T12548
T43482

NCBI Reference Sequences

More...
RefSeqi
NP_005984.3, NM_005993.4 [Q9BTW9-1]

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000355528; ENSP00000347719; ENSG00000141556 [Q9BTW9-1]

Database of genes from NCBI RefSeq genomes

More...
GeneIDi
6904

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...
KEGGi
hsa:6904

UCSC genome browser

More...
UCSCi
uc002kfz.4 human [Q9BTW9-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AJ006417 mRNA Translation: CAA07022.1
AF193042 mRNA Translation: AAG22470.1
AB023205 mRNA Translation: BAA76832.2 Different initiation.
AK091959 mRNA Translation: BAC03777.1
AL133562 mRNA Translation: CAB63716.1
AL096745 mRNA Translation: CAB62532.2
AC024361 Genomic DNA No translation available.
AC068014 Genomic DNA No translation available.
AC068584 Genomic DNA No translation available.
AC087222 Genomic DNA No translation available.
AC130371 Genomic DNA No translation available.
BC003094 mRNA Translation: AAH03094.1
BC012824 mRNA Translation: AAH12824.2
BC039654 mRNA Translation: AAH39654.1 Different initiation.
CCDSiCCDS45818.1 [Q9BTW9-1]
PIRiT12548
T43482
RefSeqiNP_005984.3, NM_005993.4 [Q9BTW9-1]

3D structure databases

Database of comparative protein structure models

More...
ModBasei
Search...

SWISS-MODEL Interactive Workspace

More...
SWISS-MODEL-Workspacei
Submit a new modelling project...

Protein-protein interaction databases

BioGridi112767, 64 interactors
CORUMiQ9BTW9
IntActiQ9BTW9, 26 interactors
MINTiQ9BTW9
STRINGi9606.ENSP00000347719

PTM databases

iPTMnetiQ9BTW9
PhosphoSitePlusiQ9BTW9
SwissPalmiQ9BTW9

Polymorphism and mutation databases

BioMutaiTBCD
DMDMi296452924

Proteomic databases

EPDiQ9BTW9
jPOSTiQ9BTW9
MassIVEiQ9BTW9
MaxQBiQ9BTW9
PaxDbiQ9BTW9
PeptideAtlasiQ9BTW9
PRIDEiQ9BTW9
ProteomicsDBi79016 [Q9BTW9-1]
79017 [Q9BTW9-2]
79018 [Q9BTW9-3]
79019 [Q9BTW9-4]
79020 [Q9BTW9-5]

Protocols and materials databases

The DNASU plasmid repository

More...
DNASUi
6904
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000355528; ENSP00000347719; ENSG00000141556 [Q9BTW9-1]
GeneIDi6904
KEGGihsa:6904
UCSCiuc002kfz.4 human [Q9BTW9-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
6904
DisGeNETi6904

GeneCards: human genes, protein and diseases

More...
GeneCardsi
TBCD
HGNCiHGNC:11581 TBCD
HPAiHPA045200
MalaCardsiTBCD
MIMi604649 gene
617193 phenotype
neXtProtiNX_Q9BTW9
OpenTargetsiENSG00000141556
Orphaneti496641 Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome
PharmGKBiPA36345

Human Unidentified Gene-Encoded large proteins database

More...
HUGEi
Search...

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG1943 Eukaryota
COG5234 LUCA
GeneTreeiENSGT00390000017103
InParanoidiQ9BTW9
KOiK21767
OrthoDBi79003at2759
PhylomeDBiQ9BTW9
TreeFamiTF105754

Enzyme and pathway databases

ReactomeiR-HSA-389977 Post-chaperonin tubulin folding pathway

Miscellaneous databases

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

More...
ChiTaRSi
TBCD human

The Gene Wiki collection of pages on human genes and proteins

More...
GeneWikii
TBCD

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

More...
GenomeRNAii
6904

Pharos

More...
Pharosi
Q9BTW9

Protein Ontology

More...
PROi
PR:Q9BTW9

The Stanford Online Universal Resource for Clones and ESTs

More...
SOURCEi
Search...

Gene expression databases

BgeeiENSG00000141556 Expressed in 217 organ(s), highest expression level in right lobe of thyroid gland
ExpressionAtlasiQ9BTW9 baseline and differential
GenevisibleiQ9BTW9 HS

Family and domain databases

Gene3Di1.25.10.10, 1 hit
InterProiView protein in InterPro
IPR011989 ARM-like
IPR016024 ARM-type_fold
IPR033162 TBCD
IPR022577 Tubulin_specific_chaperoneD_C
PANTHERiPTHR12658 PTHR12658, 1 hit
PfamiView protein in Pfam
PF12612 TFCD_C, 1 hit
SUPFAMiSSF48371 SSF48371, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

More...
ProtoNeti
Search...

MobiDB: a database of protein disorder and mobility annotations

More...
MobiDBi
Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the ‘Entry information’ section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiTBCD_HUMAN
<p>This subsection of the ‘Entry information’ section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called ‘Primary (citable) accession number’.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: Q9BTW9
Secondary accession number(s): O95458
, Q7L8K1, Q8IXP6, Q8NAX0, Q8WYH4, Q96E74, Q9UF82, Q9UG46, Q9Y2J3
<p>This subsection of the ‘Entry information’ section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification (‘Last modified’). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: February 7, 2006
Last sequence update: May 18, 2010
Last modified: September 18, 2019
This is version 158 of the entry and version 2 of the sequence. See complete history.
<p>This subsection of the ‘Entry information’ section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

<p>This section contains any relevant information that doesn’t fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. SIMILARITY comments
    Index of protein domains and families
  2. Human chromosome 17
    Human chromosome 17: entries, gene names and cross-references to MIM
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
UniProt is an ELIXIR core data resource
Main funding by: National Institutes of Health

We'd like to inform you that we have updated our Privacy Notice to comply with Europe’s new General Data Protection Regulation (GDPR) that applies since 25 May 2018.

Do not show this banner again