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

Gene ID: 8848, updated on 21-Dec-2019

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
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; 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

Genomic context

See TSC22D1 in Genome Data Viewer
Location:
13q14.11
Exon count:
9
Annotation release Status Assembly Chr Location
109.20191205 current GRCh38.p13 (GCF_000001405.39) 13 NC_000013.11 (44432143..44576825, complement)
105 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 tumor suppressor candidate 8 Neighboring gene TSC22D1 antisense RNA 1 Neighboring gene SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily e, member 1 pseudogene 5 Neighboring gene long intergenic non-protein coding RNA 407 Neighboring gene uncharacterized LOC105370185

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC17597, DKFZp686O19206

Gene Ontology Provided by GOA

Process Evidence Code Pubs
regulation of transcription by RNA polymerase II IEA
Inferred from Electronic Annotation
more info
 
transcription by RNA polymerase II TAS
Traceable Author Statement
more info
PubMed 
Component Evidence Code Pubs
cytoplasm IEA
Inferred from Electronic Annotation
more info
 
nucleus IEA
Inferred from Electronic Annotation
more info
 

General protein information

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)

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_001243797.1NP_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
    pfam01166
    Location:147
    TSC22; TSC-22/dip/bun family
  2. NM_001243798.1NP_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, BI463370
    Consensus CDS
    CCDS73565.1
    UniProtKB/TrEMBL
    A0A087X0H8
    Related
    ENSP00000481585.1, ENST00000611198.4
    Conserved Domains (1) summary
    pfam01166
    Location:147
    TSC22; TSC-22/dip/bun family
  3. NM_001243799.1NP_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
    Related
    ENSP00000437414.1, ENST00000501704.3
  4. NM_006022.4NP_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/Swiss-Prot
    Q15714
    UniProtKB/TrEMBL
    A0A024RDV8, A8K3Y6
    Related
    ENSP00000261489.2, ENST00000261489.6
    Conserved Domains (1) summary
    pfam01166
    Location:59105
    TSC22; TSC-22/dip/bun family
  5. NM_183422.4NP_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
    Q15714
    Related
    ENSP00000397435.2, ENST00000458659.3
    Conserved Domains (3) summary
    pfam01166
    Location:9881034
    TSC22; TSC-22/dip/bun family
    cl25764
    Location:555788
    PAT1; Topoisomerase II-associated protein PAT1
    cl26557
    Location:685899
    RNase_E_G; Ribonuclease E/G family

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20191205

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000013.11 Reference GRCh38.p13 Primary Assembly

    Range
    44432143..44576825 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_024449427.1XP_024305195.1  TSC22 domain family protein 1 isoform X1

    Conserved Domains (3) summary
    pfam01166
    Location:9881034
    TSC22; TSC-22/dip/bun family
    cl25764
    Location:555788
    PAT1; Topoisomerase II-associated protein PAT1
    cl26557
    Location:685899
    RNase_E_G; Ribonuclease E/G family
  2. XM_005266583.5XP_005266640.1  TSC22 domain family protein 1 isoform X3

    Conserved Domains (2) summary
    PRK07764
    Location:582787
    PRK07764; DNA polymerase III subunits gamma and tau; Validated
    PRK10811
    Location:685899
    rne; ribonuclease E; Reviewed
  3. XM_017020810.2XP_016876299.1  TSC22 domain family protein 1 isoform X2

  4. XM_017020811.2XP_016876300.1  TSC22 domain family protein 1 isoform X4

RNA

  1. XR_941690.3 RNA Sequence

  2. XR_001749705.2 RNA Sequence

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