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GeneE
10 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
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TCEAL1
transcription elongation factor A like 1
Chromosome X Β· Xq22.2
NCBI Gene: 9338Ensembl: ENSG00000172465.15HGNC: HGNC:11616UniProt: Q15170
46PubMed Papers
21Diseases
0Drugs
12Pathogenic Variants
FUNCTIONAL ROLE
Transcription Factor
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
protein bindingnucleusnucleoplasmnegative regulation of gene expressionneurodevelopmental disorder with gait disturbance, dysmorphic facies, and behavioral abnormalities, X-linkedgenetic disorderneurodegenerative diseaseNeurodevelopmental disorder
✦AI Summary

TCEAL1 encodes a nuclear phosphoprotein that functions as a transcriptional regulator, modulating gene expression in a promoter-dependent manner without directly binding DNA 1. The protein shares sequence homology with transcription elongation factor TFIIS and competes with TFIIS for binding to core promoters 2. TCEAL1 forms a complex with the deubiquitinating enzyme USP11, which protects TCEAL1 from proteasomal degradation while TCEAL1 recruits USP11 to RNA polymerase II 2. This complex promotes transcription elongation and maintains expression of essential genes, including RPB8, a subunit of all nuclear RNA polymerases 2. Loss-of-function variants in TCEAL1 cause Hijazi-Reis syndrome, an X-linked neurodevelopmental disorder characterized by intellectual disability, developmental delay (especially affecting expressive speech), autistic behaviors, hypotonia, and dysmorphic facial features 34. Additional features include gastrointestinal, ocular, and endocrine abnormalities, with adult patients showing hyperphagia, obesity, and metabolic dysfunction including type 2 diabetes 45. TCEAL1 suppression has been shown to enhance docetaxel efficacy in prostate cancer by altering cell cycle profiles and increasing apoptosis 6, suggesting potential therapeutic applications in oncology.

Sources cited
1
TCEAL1 encodes a nuclear phosphoprotein that modulates transcription in promoter-dependent manner without binding DNA directly
PMID: 10051408
2
TCEAL1 shares homology with TFIIS, competes for core promoter binding, forms complex with USP11, and promotes transcription elongation
PMID: 40250979
3
Loss-of-function TCEAL1 variants cause Hijazi-Reis syndrome with neurodevelopmental features including intellectual disability and speech delay
PMID: 36368327
4
Adult patients with TCEAL1-related disorder show hyperphagia, obesity, and endocrine abnormalities
PMID: 38200082
5
Type 2 diabetes documented in adolescent with Hijazi-Reis syndrome
PMID: 41631087
6
TCEAL1 suppression enhances docetaxel efficacy in prostate cancer through altered cell cycle profiles
PMID: 33033111
Disease Associationsβ“˜21
neurodevelopmental disorder with gait disturbance, dysmorphic facies, and behavioral abnormalities, X-linkedOpen Targets
0.68Moderate
genetic disorderOpen Targets
0.40Moderate
neurodegenerative diseaseOpen Targets
0.30Weak
Neurodevelopmental disorderOpen Targets
0.19Weak
neoplasmOpen Targets
0.12Weak
breast cancerOpen Targets
0.12Weak
hepatocellular carcinomaOpen Targets
0.11Weak
melanomaOpen Targets
0.11Weak
colorectal carcinomaOpen Targets
0.11Weak
non-small cell lung carcinomaOpen Targets
0.11Weak
cancerOpen Targets
0.11Weak
head and neck squamous cell carcinomaOpen Targets
0.10Weak
esophageal squamous cell carcinomaOpen Targets
0.10Weak
gastric cancerOpen Targets
0.10Weak
colorectal cancerOpen Targets
0.10Suggestive
rheumatoid arthritisOpen Targets
0.10Suggestive
glioblastoma multiformeOpen Targets
0.10Suggestive
cervical cancerOpen Targets
0.09Suggestive
systemic lupus erythematosusOpen Targets
0.09Suggestive
nasopharyngeal carcinomaOpen Targets
0.09Suggestive
Hijazi-Reis syndromeUniProt
Pathogenic Variants12
NM_004780.3(TCEAL1):c.427_430del (p.Asn142_Lys143insTer)Likely pathogenic
Neurodevelopmental disorder with gait disturbance, dysmorphic facies, and behavioral abnormalities, X-linked
β˜…β˜†β˜†β˜†2024β†’ Residue 142
NM_004780.3(TCEAL1):c.211G>T (p.Glu71Ter)Likely pathogenic
Neurodevelopmental disorder with gait disturbance, dysmorphic facies, and behavioral abnormalities, X-linked
β˜…β˜†β˜†β˜†2024β†’ Residue 71
NM_004780.3(TCEAL1):c.196G>T (p.Glu66Ter)Pathogenic
Inborn genetic diseases
β˜…β˜†β˜†β˜†2023β†’ Residue 66
NM_004780.3(TCEAL1):c.269G>A (p.Cys90Tyr)Likely pathogenic
See cases|Neurodevelopmental disorder with gait disturbance, dysmorphic facies, and behavioral abnormalities, X-linked
β˜…β˜†β˜†β˜†2022β†’ Residue 90
NM_004780.3(TCEAL1):c.169del (p.Leu57fs)Likely pathogenic
See cases|Neurodevelopmental disorder with gait disturbance, dysmorphic facies, and behavioral abnormalities, X-linked
β˜…β˜†β˜†β˜†2022β†’ Residue 57
NM_004780.3(TCEAL1):c.447G>A (p.Trp149Ter)Likely pathogenic
See cases|Neurodevelopmental disorder with gait disturbance, dysmorphic facies, and behavioral abnormalities, X-linked
β˜…β˜†β˜†β˜†2022β†’ Residue 149
NM_004780.3(TCEAL1):c.299_302del (p.Gly100fs)Likely pathogenic
See cases|Neurodevelopmental disorder with gait disturbance, dysmorphic facies, and behavioral abnormalities, X-linked
β˜…β˜†β˜†β˜†2022β†’ Residue 100
NM_004780.3(TCEAL1):c.259C>T (p.Gln87Ter)Likely pathogenic
See cases|Neurodevelopmental disorder with gait disturbance, dysmorphic facies, and behavioral abnormalities, X-linked
β˜…β˜†β˜†β˜†2022β†’ Residue 87
NM_004780.3(TCEAL1):c.311_314del (p.Glu104fs)Likely pathogenic
Neurodevelopmental disorder with gait disturbance, dysmorphic facies, and behavioral abnormalities, X-linked
β˜…β˜†β˜†β˜†β†’ Residue 104
NM_004780.3(TCEAL1):c.324_333del (p.Ser109fs)Likely pathogenic
Neurodevelopmental disorder with gait disturbance, dysmorphic facies, and behavioral abnormalities, X-linked
β˜…β˜†β˜†β˜†β†’ Residue 109
NM_004780.3(TCEAL1):c.151G>T (p.Glu51Ter)Likely pathogenic
Neurodevelopmental disorder with gait disturbance, dysmorphic facies, and behavioral abnormalities, X-linked
β˜…β˜†β˜†β˜†β†’ Residue 51
NM_004780.3(TCEAL1):c.61G>T (p.Glu21Ter)Likely pathogenic
Neurodevelopmental disorder with gait disturbance, dysmorphic facies, and behavioral abnormalities, X-linked
β˜…β˜†β˜†β˜†β†’ Residue 21
View on ClinVar β†—
Related Genes
ZNF410Shared pathway100%SFMBT2Shared pathway100%CNPY2Shared pathway100%TCEAL6Protein interaction97%TCEAL4Protein interaction96%TCEAL7Protein interaction95%
Tissue Expression6 tissues
Ovary
100%
Brain
25%
Heart
19%
Lung
16%
Liver
11%
Bone Marrow
8%
Gene Interaction Network
Click a node to explore
TCEAL1ZNF410SFMBT2CNPY2TCEAL6TCEAL4TCEAL7
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted Β· UniProt Q15170
View on AlphaFold β†—
RankingsWhere TCEAL1 stands among ~20K protein-coding genes
  • #9,389of 20,598
    Most Researched46
  • #2,696of 5,498
    Most Pathogenic Variants12
Genes detectedTCEAL1
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
Genomic structure and chromosomal localization of TCEAL1, a human gene encoding the nuclear phosphoprotein p21/SIIR.
PMID: 10051408
Genomics Β· 1999
1.00
2
The USP11/TCEAL1 complex promotes transcription elongation to sustain oncogenic gene expression in neuroblastoma.
PMID: 40250979
Genes Dev Β· 2025
0.90
3
TCEAL1 loss-of-function results in an X-linked dominant neurodevelopmental syndrome and drives the neurological disease trait in Xq22.2 deletions.
PMID: 36368327
Am J Hum Genet Β· 2022
0.80
4
Confirmation and expansion of the phenotype of the TCEAL1-related neurodevelopmental disorder.
PMID: 38200082
Eur J Hum Genet Β· 2024
0.70
5
In vivo CRISPR/Cas9 knockout screen: TCEAL1 silencing enhances docetaxel efficacy in prostate cancer.
PMID: 33033111
Life Sci Alliance Β· 2020
0.60