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    TSC22D1 TSC22 domain family member 1 [ Homo sapiens (human) ]

    Gene ID: 8848, updated on 14-Nov-2024

    Summary

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    Official Symbol
    TSC22D1provided by HGNC
    Official Full Name
    TSC22 domain family member 1provided by HGNC
    Primary source
    HGNC:HGNC:16826
    See related
    Ensembl:ENSG00000102804 MIM:607715; AllianceGenome:HGNC:16826
    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
    Ptg-2; TSC22; HUCEP-2; TGFB1I4
    Summary
    This gene encodes a member of the TSC22 domain family of leucine zipper transcription factors. The encoded protein is stimulated by transforming growth factor beta, and regulates the transcription of multiple genes including C-type natriuretic peptide. The encoded protein may play a critical role in tumor suppression through the induction of cancer cell apoptosis, and a single nucleotide polymorphism in the promoter of this gene has been associated with diabetic nephropathy. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Aug 2011]
    Expression
    Ubiquitous expression in prostate (RPKM 33.1), endometrium (RPKM 31.6) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See TSC22D1 in Genome Data Viewer
    Location:
    13q14.11
    Exon count:
    10
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 13 NC_000013.11 (44432143..44577344, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 13 NC_060937.1 (43651902..43797110, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 13 NC_000013.10 (45006279..45150701, complement)

    Chromosome 13 - NC_000013.11Genomic Context describing neighboring genes Neighboring gene stress associated endoplasmic reticulum protein family member 2 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr13:44991723-44992251 Neighboring gene tumor suppressor candidate 8 Neighboring gene ReSE screen-validated silencer GRCh37_chr13:44999732-44999924 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr13:45008784-45009983 Neighboring gene uncharacterized LOC124903167 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr13:45026151-45026652 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr13:45026653-45027152 Neighboring gene NANOG hESC enhancer GRCh37_chr13:45090824-45091325 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7674 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5306 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5307 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5308 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5309 Neighboring gene TSC22D1 antisense RNA 1 Neighboring gene Sharpr-MPRA regulatory region 2103 Neighboring gene SMARCE1 pseudogene 5 Neighboring gene small nucleolar RNA U13

    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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    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Identification of Binding Proteins for TSC22D1 Family Proteins Using Mass Spectrometry.
      Title: Identification of Binding Proteins for TSC22D1 Family Proteins Using Mass Spectrometry.
    2. TSC22 could suppress tumor by inhibiting cell proliferation in colorectal cancer cell lines. Multivariate Cox regression analysis confirmed TSC22 expression as independent predictors of the OS in CRC patients
      Title: Low levels of TSC22 enhance tumorigenesis by inducing cell proliferation in colorectal cancer.
    3. TSC-22 acts as a tumor suppressor by safeguarding p53 from poly-ubiquitination mediated-degradation.
      Title: Crucial role of TSC-22 in preventing the proteasomal degradation of p53 in cervical cancer.
    4. we report that induced Tsc-22 leads to enhancement of TGF-beta-dependent signaling and enhancement is blocked by expression of a dominant-negative Tsc-22 mutant
      Title: Regulation of TGF-β signaling by PKC depends on Tsc-22 inducibility.
    5. Differential regulation of antagonistic TSC22D1 variants is required for the establishment of oncogene-induced cellular senescence.
      Title: Antagonistic TSC22D1 variants control BRAF(E600)-induced senescence.
    6. Results support role of TSC22D1 as an enhancer of CNP transcription and suggest that TGF-beta-induced upregulation of CNP expression in smooth muscle may be mediated in part by increased transcription of TSC22D1.
      Title: Transforming growth factor-beta1 regulation of C-type natriuretic peptide expression in human vascular smooth muscle cells: dependence on TSC22D1.
    7. Long form of TSC22DF is evolutionarily conserved and has growth-regulating potential.
      Title: Madm (Mlf1 adapter molecule) cooperates with Bunched A to promote growth in Drosophila.
    8. interaction between fortilin and TSC-22 prevents apoptosis via the destabilization of TSC-22 in ovarian carcinoma cells
      Title: Interaction between fortilin and transforming growth factor-beta stimulated clone-22 (TSC-22) prevents apoptosis via the destabilization of TSC-22.
    9. Expression of TSC-22 was frequently observed in the tumor cells with differentiated-phenotypes, although rarely in the cells with growing potentials.
      Title: Expression and cellular localization of TSC-22 in normal salivary glands and salivary gland tumors: implications for tumor cell differentiation.
    10. Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator)
      Title: TGF-beta1 and TSC-22 gene polymorphisms and susceptibility to microvascular complications in type 2 diabetes.
    Submit: New GeneRIF Correction See all GeneRIFs (18)

    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

    EBI GWAS Catalog

    Description
    Genetically distinct subsets within ANCA-associated vasculitis.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • MGC17597, DKFZp686O19206

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables DNA-binding transcription activator activity, RNA polymerase II-specific IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables RNA polymerase II cis-regulatory region sequence-specific DNA binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables identical protein binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables transcription coactivator activity IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in negative regulation of apoptotic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in negative regulation of hematopoietic stem cell proliferation ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    acts_upstream_of negative regulation of programmed cell death ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in positive regulation of apoptotic process IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in positive regulation of cell population proliferation IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    acts_upstream_of positive regulation of programmed cell death ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in positive regulation of transcription by RNA polymerase II IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in positive regulation of transforming growth factor beta receptor signaling pathway IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in transcription by RNA polymerase II TAS
    Traceable Author Statement
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    is_active_in cytosol IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in mitochondrion IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in mitochondrion IEA
    Inferred from Electronic Annotation
    more info
    		  
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in plasma membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    TSC22 domain family protein 1
    Names
    TGFB-stimulated clone 22 homolog
    TGFbeta-stimulated clone 22
    cerebral protein 2
    regulatory protein TSC-22
    transcriptional regulator TSC-22
    transforming growth factor beta-1-induced transcript 4 protein
    transforming growth factor beta-stimulated protein TSC-22

    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.

    Genomic

    1. NG_029852.2 RefSeqGene

      Range
      5236..149423
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001243797.2 → NP_001230726.1  TSC22 domain family protein 1 isoform 3

      See identical proteins and their annotated locations for NP_001230726.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR, lacks a large portion of the 5' coding region and initiates translation at a downstream, in-frame start codon, compared to variant 1. Variants 3 and 4 encode the same isoform (3), which has a significantly shorter N-terminus compared to isoform 1.
      Source sequence(s)
      AL138960, BF307401, CN344671
      Consensus CDS
      CCDS73565.1
      UniProtKB/TrEMBL
      A0A087X0H8
      Related
      ENSP00000483407.1, ENST00000622051.1
      Conserved Domains (1) summary
      cl40461
      Location:1 → 74
      ZIP_TSC22D-like; leucine zipper found in the TSC22 domain leucine zipper transcription factors, c-Myc-binding protein, and similar proteins

    2. NM_001243798.2 → NP_001230727.1  TSC22 domain family protein 1 isoform 3

      See identical proteins and their annotated locations for NP_001230727.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) differs in the 5' UTR, lacks a large portion of the 5' coding region and initiates translation at a downstream, in-frame start codon, compared to variant 1. Variants 3 and 4 encode the same isoform (3), which has a significantly shorter N-terminus compared to isoform 1.
      Source sequence(s)
      AL138960, AL139184, BI463370
      Consensus CDS
      CCDS73565.1
      UniProtKB/TrEMBL
      A0A087X0H8
      Related
      ENSP00000481585.1, ENST00000611198.4
      Conserved Domains (1) summary
      cl40461
      Location:1 → 74
      ZIP_TSC22D-like; leucine zipper found in the TSC22 domain leucine zipper transcription factors, c-Myc-binding protein, and similar proteins

    3. NM_001243799.1 → NP_001230728.1  TSC22 domain family protein 1 isoform 4

      See identical proteins and their annotated locations for NP_001230728.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (5) uses an alternate splice site and lacks an exon in the coding region, which results in a frameshift, compared to variant 1. The encoded isoform (4) is shorter and has a distinct C-terminus, compared to isoform 1.
      Source sequence(s)
      AB082525, AK091854, AL138960
      Consensus CDS
      CCDS58291.1
      UniProtKB/Swiss-Prot
      Q15714

    4. NM_006022.4 → NP_006013.1  TSC22 domain family protein 1 isoform 2

      See identical proteins and their annotated locations for NP_006013.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR, lacks a large portion of the 5' coding region and initiates translation at an alternate start codon, compared to variant 1. The encoded isoform (2, also known as TSC22D1.2) is significantly shorter and has a distinct N-terminus, compared to isoform 1.
      Source sequence(s)
      AK290751, AL138960, BC016867
      Consensus CDS
      CCDS9392.1
      UniProtKB/TrEMBL
      A8K3Y6
      Related
      ENSP00000261489.2, ENST00000261489.7
      Conserved Domains (1) summary
      cd21938
      Location:54 → 132
      ZIP_TSC22D1; leucine zipper domain found in TSC22 domain family protein 1

    5. NM_183422.4 → NP_904358.2  TSC22 domain family protein 1 isoform 1

      See identical proteins and their annotated locations for NP_904358.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1, also known as TSC22D1.1).
      Source sequence(s)
      AB082525, AL138960, AL356107
      Consensus CDS
      CCDS31966.1
      UniProtKB/Swiss-Prot
      A0A087X0H8, B3KRL7, B9EGI0, O00666, Q15714, Q6AHX5, Q6IBU1, Q8NCN1, Q96JS5
      Related
      ENSP00000397435.2, ENST00000458659.3
      Conserved Domains (2) summary
      PRK10811
      Location:685 → 899
      rne; ribonuclease E; Reviewed
      cd21938
      Location:983 → 1061
      ZIP_TSC22D1; leucine zipper domain found in TSC22 domain family protein 1

    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_000013.11 Reference GRCh38.p14 Primary Assembly

      Range
      44432143..44577344 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047430716.1 → XP_047286672.1  TSC22 domain family protein 1 isoform X1

      UniProtKB/Swiss-Prot
      A0A087X0H8, B3KRL7, B9EGI0, O00666, Q15714, Q6AHX5, Q6IBU1, Q8NCN1, Q96JS5
      Conserved Domains (2) summary
      PRK10811
      Location:685 → 899
      rne; ribonuclease E; Reviewed
      cd21938
      Location:983 → 1061
      ZIP_TSC22D1; leucine zipper domain found in TSC22 domain family protein 1

    2. XM_047430715.1 → XP_047286671.1  TSC22 domain family protein 1 isoform X1

      UniProtKB/Swiss-Prot
      A0A087X0H8, B3KRL7, B9EGI0, O00666, Q15714, Q6AHX5, Q6IBU1, Q8NCN1, Q96JS5
      Conserved Domains (2) summary
      PRK10811
      Location:685 → 899
      rne; ribonuclease E; Reviewed
      cd21938
      Location:983 → 1061
      ZIP_TSC22D1; leucine zipper domain found in TSC22 domain family protein 1

    3. XM_047430718.1 → XP_047286674.1  TSC22 domain family protein 1 isoform X3

    4. XM_047430719.1 → XP_047286675.1  TSC22 domain family protein 1 isoform X4

    5. XM_047430717.1 → XP_047286673.1  TSC22 domain family protein 1 isoform X3

    6. XM_017020810.3 → XP_016876299.1  TSC22 domain family protein 1 isoform X2

    7. XM_017020811.3 → XP_016876300.1  TSC22 domain family protein 1 isoform X5

    RNA

    1. XR_001749705.3 RNA Sequence

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060937.1 Alternate T2T-CHM13v2.0

      Range
      43651902..43797110 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054375104.1 → XP_054231079.1  TSC22 domain family protein 1 isoform X1

      UniProtKB/Swiss-Prot
      A0A087X0H8, B3KRL7, B9EGI0, O00666, Q15714, Q6AHX5, Q6IBU1, Q8NCN1, Q96JS5

    2. XM_054375103.1 → XP_054231078.1  TSC22 domain family protein 1 isoform X1

      UniProtKB/Swiss-Prot
      A0A087X0H8, B3KRL7, B9EGI0, O00666, Q15714, Q6AHX5, Q6IBU1, Q8NCN1, Q96JS5

    3. XM_054375107.1 → XP_054231082.1  TSC22 domain family protein 1 isoform X3

    4. XM_054375108.1 → XP_054231083.1  TSC22 domain family protein 1 isoform X4

    5. XM_054375106.1 → XP_054231081.1  TSC22 domain family protein 1 isoform X3

    6. XM_054375105.1 → XP_054231080.1  TSC22 domain family protein 1 isoform X2

    7. XM_054375109.1 → XP_054231084.1  TSC22 domain family protein 1 isoform X5

    RNA

    1. XR_008488789.1 RNA Sequence

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q15714.3 GenPept UniProtKB/Swiss-Prot:Q15714

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