Description: Homo sapiens ALX homeobox 3 (ALX3), mRNA. RefSeq Summary (NM_006492): This gene encodes a nuclear protein with a homeobox DNA-binding domain that functions as a transcriptional regulator involved in cell-type differentiation and development. Preferential methylation of this gene's promoter is associated with advanced-stage neuroblastoma tumors. [provided by RefSeq, Jul 2008]. Sequence Note: This RefSeq record was created from transcript and genomic sequence data to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on transcript alignments. Transcript (Including UTRs) Position: hg19 chr1:110,602,997-110,613,322 Size: 10,326 Total Exon Count: 4 Strand: - Coding Region Position: hg19 chr1:110,603,355-110,613,234 Size: 9,880 Coding Exon Count: 4
ID:ALX3_HUMAN DESCRIPTION: RecName: Full=Homeobox protein aristaless-like 3; AltName: Full=Proline-rich transcription factor ALX3; FUNCTION: Transcriptional regulator with a possible role in patterning of mesoderm during development (By similarity). SUBCELLULAR LOCATION: Nucleus (By similarity). DISEASE: Defects in ALX3 are the cause of frontonasal dysplasia type 1 (FND1) [MIM:136760]; also called frontonasal malformation (FNM) or frontorhiny. The term frontonasal dysplasia describes an array of abnormalities affecting the eyes, forehead and nose and linked to midfacial dysraphia. The clinical picture is highly variable. Major findings include true ocular hypertelorism; broadening of the nasal root; median facial cleft affecting the nose and/or upper lip and palate; unilateral or bilateral clefting of the alae nasi; lack of formation of the nasal tip; anterior cranium bifidum occultum; a V-shaped or widow's peak frontal hairline. SIMILARITY: Belongs to the paired homeobox family. SIMILARITY: Contains 1 homeobox DNA-binding domain.
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 O95076
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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:0003677 DNA binding GO:0043565 sequence-specific DNA binding
Biological Process: GO:0006351 transcription, DNA-templated GO:0006355 regulation of transcription, DNA-templated GO:0006357 regulation of transcription from RNA polymerase II promoter GO:0007275 multicellular organism development GO:0007389 pattern specification process GO:0035115 embryonic forelimb morphogenesis GO:0035116 embryonic hindlimb morphogenesis GO:0042981 regulation of apoptotic process GO:0048701 embryonic cranial skeleton morphogenesis GO:0048704 embryonic skeletal system morphogenesis
US Server
