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    SALL3 spalt like transcription factor 3 [ Homo sapiens (human) ]

    Gene ID: 27164, updated on 23-May-2018
    Official Symbol
    SALL3provided by HGNC
    Official Full Name
    spalt like transcription factor 3provided by HGNC
    Primary source
    HGNC:HGNC:10527
    See related
    Ensembl:ENSG00000256463 MIM:605079; Vega:OTTHUMG00000132896
    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
    ZNF796
    Summary
    This gene encodes a sal-like C2H2-type zinc-finger protein, and belongs to a family of evolutionarily conserved genes found in species as diverse as Drosophila, C. elegans, and vertebrates. Mutations in some of these genes are associated with congenital disorders in human, suggesting their importance in embryonic development. This protein binds to DNA methyltransferase 3 alpha (DNMT3A), and reduces DNMT3A-mediated CpG island methylation. It is suggested that silencing of this gene, resulting in acceleration of DNA methylation, may have a role in oncogenesis. [provided by RefSeq, Oct 2011]
    Expression
    Biased expression in brain (RPKM 1.5), prostate (RPKM 0.7) and 2 other tissues See more
    Orthologs
    See SALL3 in Genome Data Viewer
    Location:
    18q23
    Exon count:
    3
    Annotation release Status Assembly Chr Location
    109 current GRCh38.p12 (GCF_000001405.38) 18 NC_000018.10 (78980275..78998969)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 18 NC_000018.9 (76740275..76759770)

    Chromosome 18 - NC_000018.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105372224 Neighboring gene long intergenic non-protein coding RNA 1896 Neighboring gene uncharacterized LOC105372225 Neighboring gene ATPase phospholipid transporting 9B (putative) Neighboring gene uncharacterized LOC100996274

    • 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
    Genome-wide association for abdominal subcutaneous and visceral adipose reveals a novel locus for visceral fat in women.
    NHGRI GWA Catalog
    Genome-wide association study of rheumatoid arthritis in the Spanish population: KLF12 as a risk locus for rheumatoid arthritis susceptibility.
    NHGRI GWA Catalog
    Identification of 23 new prostate cancer susceptibility loci using the iCOGS custom genotyping array.
    NHGRI GWA Catalog
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    DNA binding transcription factor activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    RNA polymerase II transcription factor activity, sequence-specific DNA binding ISA
    Inferred from Sequence Alignment
    more info
     
    metal ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    sequence-specific DNA binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    transcription regulatory region DNA binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    Process Evidence Code Pubs
    forelimb morphogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    hindlimb morphogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    multicellular organism development IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    negative regulation of smoothened signaling pathway IEA
    Inferred from Electronic Annotation
    more info
     
    neurogenesis IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    olfactory bulb interneuron development IEA
    Inferred from Electronic Annotation
    more info
     
    regulation of transcription by RNA polymerase II IEA
    Inferred from Electronic Annotation
    more info
     
    regulation of transcription, DNA-templated IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    signal transduction IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    transcription by RNA polymerase II IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    Component Evidence Code Pubs
    nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    Preferred Names
    sal-like protein 3
    Names
    C2H2 zinc finger protein SALL3
    hSALL3
    spalt-like zinc finger protein
    zinc finger protein 796

    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_030353.1 RefSeqGene

      Range
      5001..23695
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_171999.3NP_741996.2  sal-like protein 3

      See identical proteins and their annotated locations for NP_741996.2

      Status: REVIEWED

      Source sequence(s)
      AC099689, AI569735, AW956238, BC148296
      Consensus CDS
      CCDS12013.1
      UniProtKB/Swiss-Prot
      Q9BXA9
      UniProtKB/TrEMBL
      A9JR48
      Related
      ENSP00000441823.2, OTTHUMP00000163810, ENST00000537592.6, OTTHUMT00000256397
      Conserved Domains (5) summary
      cd11674
      Location:10791134
      lambda-1; inner capsid protein lambda-1 or VP3
      COG5048
      Location:412734
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:681701
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam00096
      Location:11431163
      zf-C2H2; Zinc finger, C2H2 type
      pfam13465
      Location:693718
      zf-H2C2_2; Zinc-finger double domain

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

    Reference GRCh38.p12 Primary Assembly

    Genomic

    1. NC_000018.10 Reference GRCh38.p12 Primary Assembly

      Range
      78980275..78998969
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p12 ALT_REF_LOCI_1

    Genomic

    1. NW_003315961.1 Reference GRCh38.p12 ALT_REF_LOCI_1

      Range
      45390..64085
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p12 ALT_REF_LOCI_2

    Genomic

    1. NT_187666.1 Reference GRCh38.p12 ALT_REF_LOCI_2

      Range
      45390..64084
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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