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

    Gene ID: 9338, updated on 10-Dec-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: Tissue-specific circular RNA induction during human fetal development
    • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
    • BioProject: PRJNA270632
    • Publication: PMID 26076956
    • Analysis date: Mon Apr 2 22:54:59 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)

    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

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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