TBCEL

Summary

TBCEL (tubulin folding cofactor E like, HGNC:28115) is a protein-coding gene on chromosome 11q23.3, encoding Tubulin-specific chaperone cofactor E-like protein (Q5QJ74). Acts as a regulator of tubulin stability.

Predicted to enable alpha-tubulin binding activity. Predicted to be involved in microtubule cytoskeleton organization; post-chaperonin tubulin folding pathway; and tubulin complex assembly. Predicted to be located in cytoskeleton. Predicted to be active in cytoplasm.

Source: NCBI Gene 219899 — RefSeq curated summary.

At a glance

• Clinical variants (ClinVar): 42 total
• MANE Select transcript: NM_001363644

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:28115
Approved symbol	TBCEL
Name	tubulin folding cofactor E like
Location	11q23.3
Locus type	gene with protein product
Status	Approved
Aliases	MGC10233
Ensembl gene	ENSG00000154114
Ensembl biotype	protein_coding
OMIM	610451
Entrez	219899

Gene structure

Transcript identifiers

Ensembl transcripts: 25 — 20 protein_coding, 3 nonsense_mediated_decay, 2 retained_intron

ENST00000284259, ENST00000422003, ENST00000524726, ENST00000529397, ENST00000530362, ENST00000531148, ENST00000533134, ENST00000533169, ENST00000533712, ENST00000683345, ENST00000885762, ENST00000885763, ENST00000885764, ENST00000885765, ENST00000885766, ENST00000885767, ENST00000885768, ENST00000885769, ENST00000885770, ENST00000885771, ENST00000923205, ENST00000967565, ENST00000967566, ENST00000967567, ENST00000967568

RefSeq mRNA: 3 — MANE Select: NM_001363644 NM_001130047, NM_001363644, NM_152715

CCDS: CCDS31692

Canonical transcript exons

ENST00000683345 — 9 exons

Exon	Start	End
ENSE00001374752	121045674	121045823
ENSE00001390952	121053551	121053732
ENSE00002167894	121036505	121036612
ENSE00002170236	121024102	121024291
ENSE00003459498	121047528	121047667
ENSE00003478158	121059969	121060085
ENSE00003501157	121055052	121055308
ENSE00003649210	121058345	121058471
ENSE00003920636	121086778	121090776

Expression profiles

Bgee: expression breadth ubiquitous, 265 present calls, max score 94.51.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 10.4514 / max 91.0908, expressed in 1739 samples.

FANTOM5 promoters (1 alternative TSS)

Promoter ID	TPM avg	Samples expressed
117174	10.4514	1739

Top tissues by expression

285 total, by Bgee expression score (0-100, higher = more expressed):

Tissue	Anatomy ID	Expression score	Quality
secondary oocyte	CL:0000655	94.51	gold quality
colonic epithelium	UBERON:0000397	91.21	gold quality
buccal mucosa cell	CL:0002336	90.55	gold quality
calcaneal tendon	UBERON:0003701	89.21	gold quality
trabecular bone tissue	UBERON:0002483	88.60	gold quality
adrenal tissue	UBERON:0018303	86.77	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	85.19	gold quality
seminal vesicle	UBERON:0000998	84.74	gold quality
corpus callosum	UBERON:0002336	84.15	gold quality
skin of hip	UBERON:0001554	84.07	gold quality
right lung	UBERON:0002167	83.69	gold quality
lower lobe of lung	UBERON:0008949	83.59	gold quality
tendon	UBERON:0000043	83.32	gold quality
visceral pleura	UBERON:0002401	83.16	gold quality
cauda epididymis	UBERON:0004360	83.10	gold quality
monocyte	CL:0000576	83.03	gold quality
mononuclear cell	CL:0000842	82.72	gold quality
parietal pleura	UBERON:0002400	82.52	gold quality
leukocyte	CL:0000738	82.25	gold quality
stromal cell of endometrium	CL:0002255	81.88	gold quality
islet of Langerhans	UBERON:0000006	81.82	gold quality
pleura	UBERON:0000977	81.67	gold quality
caput epididymis	UBERON:0004358	81.01	gold quality
ventricular zone	UBERON:0003053	81.00	gold quality
gall bladder	UBERON:0002110	80.88	gold quality
endometrium	UBERON:0001295	80.70	gold quality
ovary	UBERON:0000992	80.41	gold quality
upper lobe of lung	UBERON:0008948	80.11	gold quality
left ovary	UBERON:0002119	79.92	gold quality
bone marrow cell	CL:0002092	79.90	gold quality

Single-cell (SCXA)

Detected in 2 experiment(s), a significant marker in 1.

Experiment	Marker?	Max mean expression
E-ANND-3	yes	9.48
E-MTAB-9467	no	0.65

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

224 targeting TBCEL, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):

miRNA	Max score	Avg score	miRNA target_count
HSA-MIR-3646	100.00	73.56	5283
HSA-MIR-4776-3P	100.00	68.73	1340
HSA-MIR-3163	100.00	77.23	8605
HSA-MIR-3613-3P	100.00	76.36	7965
HSA-MIR-4262	100.00	73.26	3931
HSA-MIR-6833-3P	100.00	70.63	3197
HSA-MIR-4768-5P	100.00	69.49	2861
HSA-MIR-5692A	100.00	74.40	6850
HSA-MIR-7110-3P	100.00	73.18	2486
HSA-MIR-6873-3P	100.00	71.42	2626
HSA-MIR-548C-3P	99.99	74.01	7587
HSA-MIR-548AW	99.99	72.57	3559
HSA-MIR-1184	99.99	68.19	1458
HSA-MIR-181A-5P	99.99	72.96	2995
HSA-MIR-181B-5P	99.99	72.97	2996
HSA-MIR-181C-5P	99.99	72.95	2996
HSA-MIR-181D-5P	99.99	73.04	2997
HSA-MIR-513B-5P	99.99	69.96	2150
HSA-MIR-186-5P	99.99	70.83	3707
HSA-MIR-548P	99.98	72.25	3784
HSA-MIR-4803	99.98	71.99	3117
HSA-MIR-12136	99.98	72.81	5713
HSA-MIR-103A-3P	99.98	69.14	1595
HSA-MIR-107	99.98	69.14	1595
HSA-MIR-548AA	99.96	70.64	3753
HSA-MIR-548AP-3P	99.96	70.64	3753
HSA-MIR-548T-3P	99.96	70.64	3753
HSA-MIR-1468-3P	99.96	72.74	3797
HSA-MIR-5688	99.96	73.23	4504
HSA-MIR-495-3P	99.96	72.81	4197

Literature-anchored findings (GeneRIF, showing 2)

• Leucine rich repeat containing 35 (E-like) is a novel regulator of tubulin stability with overexpression causing depolymerization of microtubules and suppression resulting in an increase in the number of stable microtubules. (PMID:15728251)
• Depletion of Op18 by means of RNA interference increased the susceptibility of tubulin to TBCE or E-like mediated disruption, while overexpressed Op18 exerted a tubulin-protective effect. (PMID:18262179)

Cross-species orthologs

6 orthologs

Organism	Symbol	Gene ID
danio_rerio	tbcela	ENSDARG00000002682
danio_rerio	tbcelb	ENSDARG00000019525
mus_musculus	Tbcel	ENSMUSG00000037287
rattus_norvegicus	Tbcel	ENSRNOG00000032364
drosophila_melanogaster	mlt	FBGN0265512
caenorhabditis_elegans		WBGENE00016866

Paralogs (1): TBCE (ENSG00000284770)

Protein

Protein identifiers

Tubulin-specific chaperone cofactor E-like protein — Q5QJ74 (reviewed: Q5QJ74)

Alternative names: Leucine-rich repeat-containing protein 35

All UniProt accessions (5): Q5QJ74, B3KNB6, E9PNS0, E9PP54, G3V147

UniProt curated annotations — full annotation on UniProt →

Function. Acts as a regulator of tubulin stability.

Subcellular location. Cytoplasm. Cytoskeleton.

Tissue specificity. Abundantly expressed in testis, but is also present in several tissues at a much lower level.

RefSeq proteins (3): NP_001123519, NP_001350573, NP_689928 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR000626	Ubiquitin-like_dom	Domain
IPR029071	Ubiquitin-like_domsf	Homologous_superfamily
IPR032675	LRR_dom_sf	Homologous_superfamily
IPR047991	TBCEL_Ubl	Domain

Pfam: PF14560, PF14580

UniProt features (16 total): repeat 7, sequence conflict 3, modified residue 2, domain 2, chain 1, coiled-coil region 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q5QJ74-F1	90.11	0.76

Functional residue map

Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.

Post-translational modifications (2): 18, 41

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 156 (showing top): IVANOVA_HEMATOPOIESIS_MATURE_CELL, GOBP_PROTEIN_MATURATION, GOBP_PROTEIN_FOLDING, DOUGLAS_BMI1_TARGETS_DN, LASTOWSKA_NEUROBLASTOMA_COPY_NUMBER_DN, GOMF_ALPHA_TUBULIN_BINDING, GOMF_CYTOSKELETAL_PROTEIN_BINDING, COULOUARN_TEMPORAL_TGFB1_SIGNATURE_UP, KARLSSON_TGFB1_TARGETS_DN, GOBP_TUBULIN_COMPLEX_ASSEMBLY, GOBP_MICROTUBULE_CYTOSKELETON_ORGANIZATION, LINSLEY_MIR16_TARGETS, CHANGOLKAR_H2AFY_TARGETS_DN, TORCHIA_TARGETS_OF_EWSR1_FLI1_FUSION_UP, STK33_NOMO_UP

GO Biological Process (3): microtubule cytoskeleton organization (GO:0000226), tubulin complex assembly (GO:0007021), post-chaperonin tubulin folding pathway (GO:0007023)

GO Molecular Function (2): alpha-tubulin binding (GO:0043014), protein binding (GO:0005515)

GO Cellular Component (2): cytoplasm (GO:0005737), cytoskeleton (GO:0005856)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cytoskeleton organization	1
microtubule-based process	1
protein-containing complex assembly	1
tubulin complex assembly	1
tubulin binding	1
binding	1
intracellular anatomical structure	1
cellular anatomical structure	1
intracellular membraneless organelle	1

Protein interactions and networks

STRING

406 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
TBCEL	TBCD	Q9BTW9	889
TBCEL	TBCC	Q15814	589
TBCEL	TIPRL	O75663	570
TBCEL	MITD1	Q8WV92	514
TBCEL	TBCA	O75347	512
TBCEL	TBCB	Q99426	487
TBCEL	PIP5K1B	P78518	479
TBCEL	HEMK1	Q9Y5R4	462
TBCEL	RPP38	P78345	449
TBCEL	BTBD8	Q5XKL5	409
TBCEL	TECTA	O75443	397
TBCEL	LHFPL3	Q86UP9	391
TBCEL	CBX3	Q13185	390
TBCEL	A0A2R8Y809	A0A2R8Y809	373
TBCEL	FAM171A1	Q5VUB5	370

IntAct

18 interactions, top by confidence:

A	B	Type	Score
TBCEL	MEOX2	psi-mi:“MI:0915”(physical association)	0.560
TBCEL	LNX1	psi-mi:“MI:0915”(physical association)	0.560
MEOX2	TBCEL	psi-mi:“MI:0915”(physical association)	0.560
LNX1	TBCEL	psi-mi:“MI:0915”(physical association)	0.560
LBX1	TBCEL	psi-mi:“MI:0915”(physical association)	0.560
OTX2	TBCEL	psi-mi:“MI:0915”(physical association)	0.560
TBCEL	PLEKHF2	psi-mi:“MI:0915”(physical association)	0.560
RRAS	KIN	psi-mi:“MI:0914”(association)	0.350
DCTN1	NACA	psi-mi:“MI:2364”(proximity)	0.270
TBCEL	LBX1	psi-mi:“MI:0915”(physical association)	0.000
TBCEL	OTX2	psi-mi:“MI:0915”(physical association)	0.000
TBCEL	PLEKHF2	psi-mi:“MI:0915”(physical association)	0.000

BioGRID (15): TBCEL (Two-hybrid), TBCEL (Two-hybrid), TBCEL (Proximity Label-MS), TBCEL (Affinity Capture-RNA), TBCEL (Two-hybrid), OTX2 (Two-hybrid), PLEKHF2 (Two-hybrid), TBCEL (Reconstituted Complex), TBCEL (Affinity Capture-MS), TBCEL (Co-fractionation), TBCEL (Affinity Capture-MS), TBCEL (Affinity Capture-MS), TBCEL (Co-fractionation), TBCEL (Co-fractionation), TBCEL (Affinity Capture-RNA)

ESM2 similar proteins: A0JM56, A0JPI9, A4IHG1, A5PK13, D3YY91, F1ND48, O35125, Q13309, Q15813, Q24K06, Q32KP2, Q32KS0, Q32L08, Q32NT4, Q3KQF4, Q3KRC6, Q3UGP9, Q498T9, Q4U2V3, Q5BKY1, Q5DU41, Q5FVQ9, Q5PQJ7, Q5QJ74, Q5R8X9, Q5RBD9, Q5U378, Q66JT1, Q68F79, Q6GQN5, Q6NSJ5, Q6NU09, Q6P9F7, Q6WRX3, Q6ZNQ3, Q8C5W3, Q8CDN9, Q8CIV8, Q8IY45, Q8IZ02

Diamond homologs: H2KYZ5, Q5QJ74, Q5PQJ7, Q8C5W3, Q8GRL7, Q9USX8, Q9XHH2, Q5BGW9, Q5U378, Q9V4Q8, A5A779, P09661, P43333, P57784, Q08963, Q1X8D7, Q4P5F9, Q4R8Y8, Q4WV66, Q5A449, Q5EA80, Q6BT60, Q6C417, Q6YSF3, Q7S9P4, Q8CDN9, Q92696, Q9BLB6, A0A096MJZ0, Q05A62, Q28G94, Q2KID4, Q4LDG9, Q641R9, Q6DHB1, Q84WJ9, Q8T888

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

42 variants total. Per-class counts are floors (≥ shown; pagination cap):

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	33
Likely benign	1
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

1416 predictions. Top by Δscore:

Variant	Effect	Δscore
11:121045404:TTGG:T	donor_gain	1.0000
11:121045407:G:GT	donor_gain	1.0000
11:121045672:A:AG	acceptor_gain	1.0000
11:121045672:AG:A	acceptor_loss	1.0000
11:121045673:G:A	acceptor_loss	1.0000
11:121045673:G:GA	acceptor_gain	1.0000
11:121045673:GC:G	acceptor_gain	1.0000
11:121045673:GCA:G	acceptor_gain	1.0000
11:121045673:GCAT:G	acceptor_gain	1.0000
11:121045673:GCATT:G	acceptor_gain	1.0000
11:121045821:AAGG:A	donor_loss	1.0000
11:121045823:GGTA:G	donor_loss	1.0000
11:121045824:GT:G	donor_loss	1.0000
11:121045825:T:G	donor_loss	1.0000
11:121047519:A:AG	acceptor_gain	1.0000
11:121047520:T:G	acceptor_gain	1.0000
11:121047522:A:AG	acceptor_gain	1.0000
11:121047523:T:G	acceptor_gain	1.0000
11:121047523:TTCA:T	acceptor_loss	1.0000
11:121047524:TCAG:T	acceptor_loss	1.0000
11:121047525:CA:C	acceptor_loss	1.0000
11:121047526:A:AC	acceptor_loss	1.0000
11:121047526:A:AG	acceptor_gain	1.0000
11:121047526:AGATC:A	acceptor_gain	1.0000
11:121047527:G:GA	acceptor_gain	1.0000
11:121047527:GAT:G	acceptor_gain	1.0000
11:121047527:GATC:G	acceptor_gain	1.0000
11:121047527:GATCG:G	acceptor_gain	1.0000
11:121047663:ATGAG:A	donor_loss	1.0000
11:121047664:TGAGG:T	donor_loss	1.0000

AlphaMissense

0 scored. Top likely-pathogenic:

dbSNP variants (sampled 300 via entrez): RS1000025049 (11:121075883 A>G), RS1000049066 (11:121033968 A>G), RS1000072174 (11:121031332 G>A), RS1000083220 (11:121056881 T>G), RS1000275535 (11:121052184 T>C), RS1000295300 (11:121060610 C>T), RS1000380213 (11:121090224 A>G), RS1000397335 (11:121033661 C>T), RS1000448968 (11:121037623 G>A), RS1000524479 (11:121026572 C>CTT), RS1000535418 (11:121081152 G>A), RS1000541126 (11:121069130 C>T), RS1000616167 (11:121066388 T>C), RS1000655110 (11:121028813 G>T), RS1000657615 (11:121073792 A>G)

Disease associations

OMIM: gene MIM:610451 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

0 total (0 of 0 shown, HPO-id order):

GWAS associations

0 associations (top):

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

PharmGKB: 1 entry (VIP=true, CPIC=false)

CTD chemical–gene interactions

24 total (human), top 24 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Air Pollutants	affects expression, increases abundance, decreases expression	2
bisphenol F	affects cotreatment, increases expression	1
dicrotophos	decreases expression	1
methylmercuric chloride	decreases expression	1
triphenyl phosphate	affects expression	1
arsenite	increases methylation	1
sodium arsenite	decreases expression	1
CGP 52608	increases reaction, affects binding	1
jinfukang	decreases expression	1
Fulvestrant	increases methylation	1
Leflunomide	increases expression	1
Benzo(a)pyrene	increases methylation	1
Dexamethasone	affects cotreatment, increases expression	1
Doxorubicin	decreases expression	1
Formaldehyde	increases expression	1
Indomethacin	increases expression, affects cotreatment	1
Methyl Methanesulfonate	increases expression	1
Ozone	affects expression, increases abundance	1
Tobacco Smoke Pollution	decreases expression	1
1-Methyl-3-isobutylxanthine	affects cotreatment, increases expression	1
Cyclosporine	decreases expression	1
Okadaic Acid	decreases expression	1
Copper Sulfate	decreases expression	1
Particulate Matter	decreases expression, increases abundance	1

Clinical trials (associated diseases)

0 trials via MONDO — disease-level, not drug-specific.