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    SATB1 SATB homeobox 1 [ Homo sapiens (human) ]

    Gene ID: 6304, updated on 4-Jun-2017
    Official Symbol
    SATB1provided by HGNC
    Official Full Name
    SATB homeobox 1provided by HGNC
    Primary source
    HGNC:HGNC:10541
    See related
    Ensembl:ENSG00000182568 MIM:602075; Vega:OTTHUMG00000129890
    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
    Summary
    This gene encodes a matrix protein which binds nuclear matrix and scaffold-associating DNAs through a unique nuclear architecture. The protein recruits chromatin-remodeling factors in order to regulate chromatin structure and gene expression. [provided by RefSeq, Apr 2016]
    Orthologs
    Location:
    3p24.3
    Exon count:
    17
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 3 NC_000003.12 (18345388..18445588, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (18389133..18480265, complement)

    Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene phosducin-like 3 pseudogene 3 Neighboring gene uncharacterized LOC339862 Neighboring gene SATB1 antisense RNA 1 Neighboring gene RAD23 homolog B pseudogene 1 Neighboring gene uncharacterized LOC105376976

    • 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
    New gene functions in megakaryopoiesis and platelet formation.
    NHGRI GWA Catalog
    Susceptibility to chronic mucus hypersecretion, a genome wide association study.
    NHGRI GWA Catalog
    • Apoptosis, organism-specific biosystem (from REACTOME)
      Apoptosis, organism-specific biosystemApoptosis is a distinct form of cell death that is functionally and morphologically different from necrosis. Nuclear chromatin condensation, cytoplasmic shrinking, dilated endoplasmic reticulum, and ...
    • Apoptotic cleavage of cellular proteins, organism-specific biosystem (from REACTOME)
      Apoptotic cleavage of cellular proteins, organism-specific biosystemApoptotic cell death is achieved by the caspase-mediatedcleavage of various vital proteins. Among caspase targets are proteins such as E-cadherin, Beta-catenin, alpha fodrin, GAS2, FADK, alpha adduc...
    • Apoptotic execution phase, organism-specific biosystem (from REACTOME)
      Apoptotic execution phase, organism-specific biosystemIn the execution phase of apoptosis, effector caspases cleave vital cellular proteins leading to the morphological changes that characterize apoptosis. These changes include destruction of the nucle...
    • Caspase cascade in apoptosis, organism-specific biosystem (from Pathway Interaction Database)
      Caspase cascade in apoptosis, organism-specific biosystem
      Caspase cascade in apoptosis
    • Programmed Cell Death, organism-specific biosystem (from REACTOME)
      Programmed Cell Death, organism-specific biosystemCell death is a fundamental cellular response that has a crucial role in shaping our bodies during development and in regulating tissue homeostasis by eliminating unwanted cells. There are a number o...
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Gene Ontology Provided by GOA

    Process Evidence Code Pubs
    CD4-positive, alpha-beta T cell differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    CD8-positive, alpha-beta T cell differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    activated T cell proliferation IEA
    Inferred from Electronic Annotation
    more info
     
    chromatin organization TAS
    Traceable Author Statement
    more info
    PubMed 
    chromatin remodeling IEA
    Inferred from Electronic Annotation
    more info
     
    epidermis development IEA
    Inferred from Electronic Annotation
    more info
     
    execution phase of apoptosis TAS
    Traceable Author Statement
    more info
     
    histone methylation IEA
    Inferred from Electronic Annotation
    more info
     
    negative regulation of transcription from RNA polymerase II promoter IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    reflex IEA
    Inferred from Electronic Annotation
    more info
     
    transcription, DNA-templated IEA
    Inferred from Electronic Annotation
    more info
     
    viral process IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    PML body IDA
    Inferred from Direct Assay
    more info
    PubMed 
    nuclear body IDA
    Inferred from Direct Assay
    more info
     
    nuclear heterochromatin IEA
    Inferred from Electronic Annotation
    more info
     
    nuclear matrix IEA
    Inferred from Electronic Annotation
    more info
     
    nucleoplasm IDA
    Inferred from Direct Assay
    more info
     
    nucleoplasm TAS
    Traceable Author Statement
    more info
     
    nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Preferred Names
    DNA-binding protein SATB1
    Names
    special AT-rich sequence binding protein 1 (binds to nuclear matrix/scaffold-associating DNA)

    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_027814.2 RefSeqGene

      Range
      11816..105201
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001131010.3NP_001124482.1  DNA-binding protein SATB1 isoform 1

      See identical proteins and their annotated locations for NP_001124482.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR and lacks an alternate exon in the 3' coding region, compared to variant 3. Isoform 1 has a shorter C-terminus, compared to isoform 2.
      Source sequence(s)
      AA001621, AC139618, AK127242, BC001744, DA938384, DB141938, DB347409
      Consensus CDS
      CCDS2631.1
      UniProtKB/Swiss-Prot
      Q01826
      UniProtKB/TrEMBL
      A0A024R2H1
      Related
      ENSP00000399708.2, OTTHUMP00000207687, ENST00000454909.6, OTTHUMT00000339358
      Conserved Domains (4) summary
      smart00389
      Location:644701
      HOX; Homeodomain
      pfam02376
      Location:494566
      CUT; CUT domain
      pfam16534
      Location:72170
      ULD; Ubiquitin-like oligomerization domain of SATB
      pfam16557
      Location:200247
      CUTL; CUT1-like DNA-binding domain of SATB
    2. NM_001195470.2NP_001182399.1  DNA-binding protein SATB1 isoform 2

      See identical proteins and their annotated locations for NP_001182399.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) represents the longest transcript and encodes the longest isoform (2).
      Source sequence(s)
      AA001621, AB209761, AC139618, AC144521, AK127242, DA938384
      Consensus CDS
      CCDS56242.1
      UniProtKB/Swiss-Prot
      Q01826
      Related
      ENSP00000399518.1, OTTHUMP00000207689, ENST00000417717.6, OTTHUMT00000339360
      Conserved Domains (4) summary
      smart00389
      Location:676733
      HOX; Homeodomain
      pfam02376
      Location:494566
      CUT; CUT domain
      pfam16534
      Location:72170
      ULD; Ubiquitin-like oligomerization domain of SATB
      pfam16557
      Location:200247
      CUTL; CUT1-like DNA-binding domain of SATB
    3. NM_001322871.1NP_001309800.1  DNA-binding protein SATB1 isoform 2

      Status: REVIEWED

      Source sequence(s)
      AC139618, AC144521
      Consensus CDS
      CCDS56242.1
      UniProtKB/Swiss-Prot
      Q01826
      Conserved Domains (4) summary
      smart00389
      Location:676733
      HOX; Homeodomain
      pfam02376
      Location:494566
      CUT; CUT domain
      pfam16534
      Location:72170
      ULD; Ubiquitin-like oligomerization domain of SATB
      pfam16557
      Location:200247
      CUTL; CUT1-like DNA-binding domain of SATB
    4. NM_001322872.1NP_001309801.1  DNA-binding protein SATB1 isoform 1

      Status: REVIEWED

      Source sequence(s)
      AC139618, AC144521
      Consensus CDS
      CCDS2631.1
      UniProtKB/Swiss-Prot
      Q01826
      UniProtKB/TrEMBL
      A0A024R2H1
      Conserved Domains (4) summary
      smart00389
      Location:644701
      HOX; Homeodomain
      pfam02376
      Location:494566
      CUT; CUT domain
      pfam16534
      Location:72170
      ULD; Ubiquitin-like oligomerization domain of SATB
      pfam16557
      Location:200247
      CUTL; CUT1-like DNA-binding domain of SATB
    5. NM_001322873.1NP_001309802.1  DNA-binding protein SATB1 isoform 1

      Status: REVIEWED

      Source sequence(s)
      AC139618, AC144521
      Consensus CDS
      CCDS2631.1
      UniProtKB/Swiss-Prot
      Q01826
      UniProtKB/TrEMBL
      A0A024R2H1
      Conserved Domains (4) summary
      smart00389
      Location:644701
      HOX; Homeodomain
      pfam02376
      Location:494566
      CUT; CUT domain
      pfam16534
      Location:72170
      ULD; Ubiquitin-like oligomerization domain of SATB
      pfam16557
      Location:200247
      CUTL; CUT1-like DNA-binding domain of SATB
    6. NM_001322874.1NP_001309803.1  DNA-binding protein SATB1 isoform 1

      Status: REVIEWED

      Source sequence(s)
      AC139618, AC144521
      Consensus CDS
      CCDS2631.1
      UniProtKB/Swiss-Prot
      Q01826
      UniProtKB/TrEMBL
      A0A024R2H1
      Conserved Domains (4) summary
      smart00389
      Location:644701
      HOX; Homeodomain
      pfam02376
      Location:494566
      CUT; CUT domain
      pfam16534
      Location:72170
      ULD; Ubiquitin-like oligomerization domain of SATB
      pfam16557
      Location:200247
      CUTL; CUT1-like DNA-binding domain of SATB
    7. NM_001322875.1NP_001309804.1  DNA-binding protein SATB1 isoform 1

      Status: REVIEWED

      Source sequence(s)
      AC139618, AC144521
      Consensus CDS
      CCDS2631.1
      UniProtKB/Swiss-Prot
      Q01826
      UniProtKB/TrEMBL
      A0A024R2H1
      Conserved Domains (4) summary
      smart00389
      Location:644701
      HOX; Homeodomain
      pfam02376
      Location:494566
      CUT; CUT domain
      pfam16534
      Location:72170
      ULD; Ubiquitin-like oligomerization domain of SATB
      pfam16557
      Location:200247
      CUTL; CUT1-like DNA-binding domain of SATB
    8. NM_001322876.1NP_001309805.1  DNA-binding protein SATB1 isoform 3

      Status: REVIEWED

      Source sequence(s)
      AC139618, AC144521
    9. NM_002971.5NP_002962.1  DNA-binding protein SATB1 isoform 1

      See identical proteins and their annotated locations for NP_002962.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) differs in the 5' UTR and lacks an alternate exon in the 3' coding region, compared to variant 3. Isoform 1 has a shorter C-terminus, compared to isoform 2.
      Source sequence(s)
      AA001621, AB209761, AC139618, AC144521, AK127242, BC001744, DA938384
      Consensus CDS
      CCDS2631.1
      UniProtKB/Swiss-Prot
      Q01826
      UniProtKB/TrEMBL
      A0A024R2H1
      Related
      ENSP00000341024.5, OTTHUMP00000160335, ENST00000338745.10, OTTHUMT00000252138
      Conserved Domains (4) summary
      smart00389
      Location:644701
      HOX; Homeodomain
      pfam02376
      Location:494566
      CUT; CUT domain
      pfam16534
      Location:72170
      ULD; Ubiquitin-like oligomerization domain of SATB
      pfam16557
      Location:200247
      CUTL; CUT1-like DNA-binding domain of SATB

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...Open this link in a new tab

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

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000003.12 Reference GRCh38.p7 Primary Assembly

      Range
      18345388..18445588 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011533989.2XP_011532291.1  DNA-binding protein SATB1 isoform X1

      See identical proteins and their annotated locations for XP_011532291.1

      UniProtKB/Swiss-Prot
      Q01826
      Conserved Domains (4) summary
      smart00389
      Location:676733
      HOX; Homeodomain
      pfam02376
      Location:494566
      CUT; CUT domain
      pfam16534
      Location:72170
      ULD; Ubiquitin-like oligomerization domain of SATB
      pfam16557
      Location:200247
      CUTL; CUT1-like DNA-binding domain of SATB
    2. XM_011533988.2XP_011532290.1  DNA-binding protein SATB1 isoform X1

      See identical proteins and their annotated locations for XP_011532290.1

      UniProtKB/Swiss-Prot
      Q01826
      Conserved Domains (4) summary
      smart00389
      Location:676733
      HOX; Homeodomain
      pfam02376
      Location:494566
      CUT; CUT domain
      pfam16534
      Location:72170
      ULD; Ubiquitin-like oligomerization domain of SATB
      pfam16557
      Location:200247
      CUTL; CUT1-like DNA-binding domain of SATB
    3. XM_011533990.2XP_011532292.1  DNA-binding protein SATB1 isoform X2

      Conserved Domains (3) summary
      pfam02376
      Location:372443
      CUT; CUT domain
      pfam16534
      Location:72170
      ULD; Ubiquitin-like oligomerization domain of SATB
      pfam16557
      Location:200247
      CUTL; CUT1-like DNA-binding domain of SATB

    Alternate CHM1_1.1

    Genomic

    1. NC_018914.2 Alternate CHM1_1.1

      Range
      18339776..18439941 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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