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TCEAL1 transcription elongation factor A like 1 [ Homo sapiens (human) ]

Gene ID: 9338, updated on 28-Oct-2024

Summary

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Official Symbol
TCEAL1provided by HGNC
Official Full Name
transcription elongation factor A like 1provided by HGNC
Primary source
HGNC:HGNC:11616
See related
Ensembl:ENSG00000172465 MIM:300237; AllianceGenome:HGNC:11616
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
p21; SIIR; WEX9; pp21; HIJRS; NEDGFAX
Summary
This gene encodes a member of the transcription elongation factor A (SII)-like (TCEAL) gene family. Members of this family may function as nuclear phosphoproteins that modulate transcription in a promoter context-dependent manner. The encoded protein is similar to transcription elongation factor A/transcription factor SII and contains a zinc finger-like motif as well as a sequence related to the transcription factor SII Pol II-binding region. It may exert its effects via protein-protein interactions with other transcriptional regulators rather than via direct binding of DNA. Multiple family members are located on the X chromosome. Alternative splicing results in multiple transcript variants encoding a single isoform. [provided by RefSeq, Jul 2008]
Expression
Ubiquitous expression in ovary (RPKM 48.1), endometrium (RPKM 41.3) and 24 other tissues See more
Orthologs
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Genomic context

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See TCEAL1 in Genome Data Viewer
Location:
Xq22.2
Exon count:
4
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) X NC_000023.11 (103628716..103630953)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) X NC_060947.1 (102075709..102077946)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (102883644..102885881)

Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chrX:102840363-102841076 Neighboring gene transcription elongation factor A like 4 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20921 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20922 Neighboring gene transcription elongation factor A like 3 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29821 Neighboring gene Sharpr-MPRA regulatory region 5968 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29823 Neighboring gene CNEP1R1 pseudogene 1 Neighboring gene mortality factor 4 like 2 Neighboring gene MORF4L2 antisense RNA 1

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues 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

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Related articles in PubMed

  1. Confirmation and expansion of the phenotype of the TCEAL1-related neurodevelopmental disorder. Albuainain F, et al. Eur J Hum Genet, 2024 Mar. PMID 38200082, Free PMC Article
  2. The Ser36-Ser37 pair in HeLa nuclear protein p21/SIIR mediates Ser/Thr phosphorylation and is essential for Rous sarcoma virus long terminal repeat repression. Yeh CH, et al. J Biol Chem, 1995 Oct 27. PMID 7592688
  3. Down-regulation of Rous sarcoma virus long terminal repeat promoter activity by a HeLa cell basic protein. Yeh CH, et al. Proc Natl Acad Sci U S A, 1994 Nov 8. PMID 7971997, Free PMC Article
  4. Polymorphisms in codon 31 of p21 and cervical cancer susceptibility in Korean women. Roh J, et al. Cancer Lett, 2001 Apr 10. PMID 11248419
  5. Differential expression of TCEAL1 in esophageal cancers by custom cDNA microarray analysis. Makino H, et al. Dis Esophagus, 2005. PMID 15773840

See all (45) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Confirmation and expansion of the phenotype of the TCEAL1-related neurodevelopmental disorder.
    Title: Confirmation and expansion of the phenotype of the TCEAL1-related neurodevelopmental disorder.
  2. TCEAL1 loss-of-function results in an X-linked dominant neurodevelopmental syndrome and drives the neurological disease trait in Xq22.2 deletions.
    Title: TCEAL1 loss-of-function results in an X-linked dominant neurodevelopmental syndrome and drives the neurological disease trait in Xq22.2 deletions.
  3. In vivo CRISPR/Cas9 knockout screen: TCEAL1 silencing enhances docetaxel efficacy in prostate cancer.
    Title: In vivo CRISPR/Cas9 knockout screen: TCEAL1 silencing enhances docetaxel efficacy in prostate cancer.
  4. Treatment with active matabolite of vitamin D (1alpha,25-dihydroxyvitamin D3) up-regulates mRNA expression of p21.
    Title: Treatment of K562 cells with 1,25-dihydroxyvitamin D3 induces distinct alterations in the expression of apoptosis-related genes BCL2, BAX, BCLXL, and p21.
  5. Observational study of gene-disease association, gene-gene interaction, and gene-environment interaction. (HuGE Navigator)
    Title: Polymorphisms in cell cycle regulatory genes, urinary arsenic profile and urothelial carcinoma.
  6. Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator)
    Title: Linking TP53 codon 72 and P21 nt590 genotypes to the development of cervical and ovarian cancer.
  7. Observational study of gene-environment interaction and pharmacogenomic / toxicogenomic. (HuGE Navigator)
    Title: TP53 and P21 polymorphisms: response to cisplatinum/paclitaxel-based chemotherapy in ovarian cancer.
  8. Observational study of gene-disease association. (HuGE Navigator)
    Title: Polymorphisms of p53 and p21 genes in chronic obstructive pulmonary disease.
  9. There was a marked decrease in the levels of the transcriptional elongation factor A gene in squamous cell cancer compared to normal samples. Reduced expression of the TCEAL1 gene may be important in esophageal squamous cell carcinogenesis.
    Title: Differential expression of TCEAL1 in esophageal cancers by custom cDNA microarray analysis.
Submit: New GeneRIF Correction

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description Tests
Neurodevelopmental disorder with gait disturbance, dysmorphic facies, and behavioral abnormalities, X-linked
MedGen: C5774179 OMIM: 301094 GeneReviews: Not available
not available

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Potential readthrough

Included gene: TCEAL3

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Process Evidence Code Pubs
NOT acts_upstream_of_or_within_negative_effect negative regulation of gene expression TAS
Traceable Author Statement
more info
 PubMed 
Component Evidence Code Pubs
located_in nucleoplasm IDA
Inferred from Direct Assay
more info
  
located_in nucleus IDA
Inferred from Direct Assay
more info
 PubMed 

General protein information

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Preferred Names
transcription elongation factor A protein-like 1
Names
TCEA-like protein 1
nuclear phosphoprotein p21/SIIR
transcription elongation factor A (SII)-like 1
transcription elongation factor S-II protein-like 1

NCBI Reference Sequences (RefSeq)

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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.

mRNA and Protein(s)

  1. NM_001006639.2 → NP_001006640.1  transcription elongation factor A protein-like 1

    See identical proteins and their annotated locations for NP_001006640.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Variants 1 through 3 encode the same isoform.
    Source sequence(s)
    BC000809, BM784458
    Consensus CDS
    CCDS35358.1
    UniProtKB/Swiss-Prot
    Q15170, Q9UJQ9
    Related
    ENSP00000361707.3, ENST00000372624.3
    Conserved Domains (1) summary
    pfam04538
    Location:87 → 159
    BEX; Brain expressed X-linked like family

  2. NM_001006640.2 → NP_001006641.1  transcription elongation factor A protein-like 1

    See identical proteins and their annotated locations for NP_001006641.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) differs in the 5' UTR compared to variant 1. Variants 1 through 3 encode the same isoform.
    Source sequence(s)
    AL049610, BC000809, BU602495, BX092470
    Consensus CDS
    CCDS35358.1
    UniProtKB/Swiss-Prot
    Q15170, Q9UJQ9
    Related
    ENSP00000361709.3, ENST00000372626.7
    Conserved Domains (1) summary
    pfam04538
    Location:87 → 159
    BEX; Brain expressed X-linked like family

  3. NM_004780.3 → NP_004771.2  transcription elongation factor A protein-like 1

    See identical proteins and their annotated locations for NP_004771.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes the complete protein. Variants 1 through 3 encode the same isoform.
    Source sequence(s)
    BC000809, CB053221, CF454849
    Consensus CDS
    CCDS35358.1
    UniProtKB/Swiss-Prot
    Q15170, Q9UJQ9
    Related
    ENSP00000361708.3, ENST00000372625.8
    Conserved Domains (1) summary
    pfam04538
    Location:87 → 159
    BEX; Brain expressed X-linked like family

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000023.11 Reference GRCh38.p14 Primary Assembly

    Range
    103628716..103630953
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060947.1 Alternate T2T-CHM13v2.0

    Range
    102075709..102077946
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q15170.3 GenPept UniProtKB/Swiss-Prot:Q15170

Gene LinkOut

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