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

    Gene ID: 8848, updated on 5-Nov-2017
    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; Vega:OTTHUMG00000016838
    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
    Location:
    13q14.11
    Exon count:
    7
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 13 NC_000013.11 (44432143..44576565, 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 uncharacterized LOC107984603 Neighboring gene stress associated endoplasmic reticulum protein family member 2 Neighboring gene tumor suppressor candidate 8 (non-protein coding) 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 uncharacterized LOC105370186

    • 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 Jun 15 11:32:44 2016

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    NHGRI GWAS Catalog

    Description
    Genetically distinct subsets within ANCA-associated vasculitis.
    NHGRI GWA Catalog
    • Ectoderm Differentiation, organism-specific biosystem (from WikiPathways)
      Ectoderm Differentiation, organism-specific biosystemModel depicting ectoderm specification based on the literature and highly enriched gene expression profiles via comparison across dozens of independent induced and embryonic pluripotent stem cell lin...
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Clone Names

    • MGC17597, DKFZp686O19206

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    DNA binding transcription factor activity IEA
    Inferred from Electronic Annotation
    more info
     
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    protein dimerization activity IEA
    Inferred from Electronic Annotation
    more info
     
    Process Evidence Code Pubs
    regulation of transcription, DNA-templated IEA
    Inferred from Electronic Annotation
    more info
     
    transcription from RNA polymerase II promoter TAS
    Traceable Author Statement
    more info
    PubMed 
    Component Evidence Code Pubs
    cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    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

    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_029852.1 RefSeqGene

      Range
      5001..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_006022.3NP_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, BG703493
      Consensus CDS
      CCDS9392.1
      UniProtKB/Swiss-Prot
      Q15714
      UniProtKB/TrEMBL
      A0A024RDV8, A8K3Y6
      Related
      ENSP00000261489.2, OTTHUMP00000018338, ENST00000261489.6, OTTHUMT00000044744
      Conserved Domains (1) summary
      pfam01166
      Location:59105
      TSC22; TSC-22/dip/bun family
    5. NM_183422.3NP_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, OTTHUMP00000214990, ENST00000458659.2, OTTHUMT00000044743
      Conserved Domains (1) summary
      pfam01166
      Location:9881034
      TSC22; TSC-22/dip/bun family

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108

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

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000013.11 Reference GRCh38.p7 Primary Assembly

      Range
      44432143..44576565 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_005266583.4XP_005266640.1  TSC22 domain family protein 1 isoform X2

      Conserved Domains (2) summary
      PRK07764
      Location:582787
      PRK07764; DNA polymerase III subunits gamma and tau; Validated
      PRK10811
      Location:685899
      rne; ribonuclease E; Reviewed
    2. XM_017020810.1XP_016876299.1  TSC22 domain family protein 1 isoform X1

    3. XM_017020811.1XP_016876300.1  TSC22 domain family protein 1 isoform X3

    RNA

    1. XR_941690.2 RNA Sequence

    2. XR_001749705.1 RNA Sequence

    Alternate CHM1_1.1

    Genomic

    1. NC_018924.2 Alternate CHM1_1.1

      Range
      44973738..45118257 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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