ID:SALL4_HUMAN DESCRIPTION: RecName: Full=Sal-like protein 4; AltName: Full=Zinc finger protein 797; AltName: Full=Zinc finger protein SALL4; FUNCTION: Probable transcription factor. SUBUNIT: Interacts with NANOG (By similarity). SUBCELLULAR LOCATION: Nucleus (Probable). TISSUE SPECIFICITY: Expressed in testis. DISEASE: Defects in SALL4 are the cause of Duane-radial ray syndrome (DRRS) [MIM:607323]; also known as Okihiro syndrome. DRRS is a disorder characterized by the association of forearm malformations with Duane retraction syndrome. DISEASE: Defects in SALL4 are the cause of oculootoradial syndrome (OORS) [MIM:147750]. Oculootoradial syndrome is an autosomal dominant condition characterized by upper limbs anomalies (radial ray defects, carpal bones fusion), extraocular motor disturbances, congenital bilateral non-progressive mixed hearing loss. Other less consistent malformations include heart involvement, mild thrombocytopenia and leukocytosis (before age 50), shoulder girdle hypoplasia, imperforate anus, kidney malrotation or rectovaginal fistula. The IVIC syndrome is an allelic disorder of Duane-radial ray syndrome (DRRS) with a similar phenotype. SIMILARITY: Belongs to the sal C2H2-type zinc-finger protein family. SIMILARITY: Contains 7 C2H2-type zinc fingers. WEB RESOURCE: Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/SALL4";
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on Q9UJQ4
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
Gene Ontology (GO) Annotations with Structured Vocabulary
Molecular Function: GO:0000981 RNA polymerase II transcription factor activity, sequence-specific DNA binding GO:0003676 nucleic acid binding GO:0003677 DNA binding GO:0003700 transcription factor activity, sequence-specific DNA binding GO:0005515 protein binding GO:0008134 transcription factor binding GO:0043565 sequence-specific DNA binding GO:0044212 transcription regulatory region DNA binding GO:0046872 metal ion binding
Biological Process: GO:0000122 negative regulation of transcription from RNA polymerase II promoter GO:0001701 in utero embryonic development GO:0001833 inner cell mass cell proliferation GO:0001843 neural tube closure GO:0003281 ventricular septum development GO:0006351 transcription, DNA-templated GO:0006355 regulation of transcription, DNA-templated GO:0006366 transcription from RNA polymerase II promoter GO:0007165 signal transduction GO:0007507 heart development GO:0009888 tissue development GO:0019827 stem cell population maintenance GO:0021915 neural tube development GO:0022008 neurogenesis GO:0030326 embryonic limb morphogenesis GO:0035019 somatic stem cell population maintenance GO:0045944 positive regulation of transcription from RNA polymerase II promoter
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Sequence and Links to Tools and Databases 
Common Gene Haplotype Alleles 
