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

    Gene ID: 8848, updated on 4-Dec-2022

    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; 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
    NEW
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    Genomic context

    See TSC22D1 in Genome Data Viewer
    Location:
    13q14.11
    Exon count:
    10
    Annotation release Status Assembly Chr Location
    110 current GRCh38.p14 (GCF_000001405.40) 13 NC_000013.11 (44432143..44577344, complement)
    110 current T2T-CHM13v2.0 (GCF_009914755.1) 13 NC_060937.1 (43651902..43796352, 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 tumor suppressor candidate 8 Neighboring gene uncharacterized LOC124903167 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 small nucleolar RNA U13

    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?

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Clone Names

    • MGC17597, DKFZp686O19206

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    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
    PubMed 
    involved_in positive regulation of cell population proliferation IBA
    Inferred from Biological aspect of Ancestor
    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
    is_active_in cytosol IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 

    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)

    NEW Try the new Transcript table

    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_001243797.2NP_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:174
      ZIP_TSC22D-like; leucine zipper found in the TSC22 domain leucine zipper transcription factors, c-Myc-binding protein, and similar proteins
    2. NM_001243798.2NP_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:174
      ZIP_TSC22D-like; leucine zipper found in the TSC22 domain leucine zipper transcription factors, c-Myc-binding protein, and similar proteins
    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
      cd21938
      Location:54132
      ZIP_TSC22D1; leucine zipper domain found in TSC22 domain family protein 1
    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, Q96JS5
      Related
      ENSP00000397435.2, ENST00000458659.3
      Conserved Domains (2) summary
      PRK10811
      Location:685899
      rne; ribonuclease E; Reviewed
      cd21938
      Location:9831061
      ZIP_TSC22D1; leucine zipper domain found in TSC22 domain family protein 1

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 110 details...Open this link in a new tab

    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_047430716.1XP_047286672.1  TSC22 domain family protein 1 isoform X1

      UniProtKB/Swiss-Prot
      Q96JS5
      Conserved Domains (2) summary
      PRK10811
      Location:685899
      rne; ribonuclease E; Reviewed
      cd21938
      Location:9831061
      ZIP_TSC22D1; leucine zipper domain found in TSC22 domain family protein 1
    2. XM_047430715.1XP_047286671.1  TSC22 domain family protein 1 isoform X1

      UniProtKB/Swiss-Prot
      Q96JS5
      Conserved Domains (2) summary
      PRK10811
      Location:685899
      rne; ribonuclease E; Reviewed
      cd21938
      Location:9831061
      ZIP_TSC22D1; leucine zipper domain found in TSC22 domain family protein 1
    3. XM_047430718.1XP_047286674.1  TSC22 domain family protein 1 isoform X3

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

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

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

    7. XM_017020811.3XP_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..43796352 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)