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

Summary

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

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_000013.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Identification of Binding Proteins for TSC22D1 Family Proteins Using Mass Spectrometry.
Title: Identification of Binding Proteins for TSC22D1 Family Proteins Using Mass Spectrometry.
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.
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.
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.
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.
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.
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.
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.
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.
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 EBI GWAS CatalogPubMed

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

D13S757 (e-PCR)
- UniSTS:39169

D13S1158 (e-PCR)
- UniSTS:65027

IB1310 (e-PCR)
- UniSTS:17415

WI-13180 (e-PCR)
- UniSTS:21016

SHGC-150889 (e-PCR)
- UniSTS:173649

WI-18898 (e-PCR)
- UniSTS:73559

RH48616 (e-PCR)
- UniSTS:50288

Tsc22d1 (e-PCR), detects polymorphism
- UniSTS:547957

RH122816 (e-PCR)
- UniSTS:135051

SHGC-105637 (e-PCR)
- UniSTS:169365

D13S1272 (e-PCR), detects polymorphism
- UniSTS:81347

D13S869E (e-PCR)
- UniSTS:151531

TSC22_2182 (e-PCR)
- UniSTS:281070

G67453 (e-PCR)
- UniSTS:186615

G67437 (e-PCR)
- UniSTS:186616

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

NG_029852.2 RefSeqGene

Range

5236..149423

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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
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
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
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
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

NC_000013.11 Reference GRCh38.p14 Primary Assembly

Range

44432143..44577344 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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
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
XM_047430718.1 → XP_047286674.1 TSC22 domain family protein 1 isoform X3
XM_047430719.1 → XP_047286675.1 TSC22 domain family protein 1 isoform X4
XM_047430717.1 → XP_047286673.1 TSC22 domain family protein 1 isoform X3
XM_017020810.3 → XP_016876299.1 TSC22 domain family protein 1 isoform X2
XM_017020811.3 → XP_016876300.1 TSC22 domain family protein 1 isoform X5