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

Gene ID: 8848, updated on 11-Apr-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
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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_2023_10 current GRCh38.p14 (GCF_000001405.40) 13 NC_000013.11 (44432143..44577344, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 13 NC_060937.1 (43651902..43797110, complement)
105.20220307 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 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily e, member 1 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
  • 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. Low levels of TSC22 enhance tumorigenesis by inducing cell proliferation in colorectal cancer. Qin S, et al. Biochem Biophys Res Commun, 2018 Mar 18. PMID 29481799
  2. Regulation of TGF-β signaling by PKC depends on Tsc-22 inducibility. Ahn H, et al. Mol Cell Biochem, 2012 Jan. PMID 21881999
  3. Antagonistic TSC22D1 variants control BRAF(E600)-induced senescence. Hömig-Hölzel C, et al. EMBO J, 2011 May 4. PMID 21448135, Free PMC Article
  4. Expression and cellular localization of TSC-22 in normal salivary glands and salivary gland tumors: implications for tumor cell differentiation. Doi Y, et al. Oncol Rep, 2008 Mar. PMID 18288391
  5. Differential expression of TGFbeta-stimulated clone 22 in normal prostate and prostate cancer. Rentsch CA, et al. Int J Cancer, 2006 Feb 15. PMID 16106424

See all (57) citations in PubMed

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)

Genotypes

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 identical protein binding IDA
Inferred from Direct Assay
more info
 PubMed 
enables protein binding IPI
Inferred from Physical Interaction
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 transforming growth factor beta receptor signaling pathway IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in regulation of transcription by RNA polymerase II IEA
Inferred from Electronic Annotation
more info
  
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 IEA
Inferred from Electronic Annotation
more info
  
is_active_in nucleus IBA
Inferred from Biological aspect of Ancestor
more info
  
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_2023_10

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

Gene LinkOut

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