ID:ALX4_HUMAN DESCRIPTION: RecName: Full=Homeobox protein aristaless-like 4; FUNCTION: Transcription factor involved in skull and limb development. Plays an essential role in craniofacial development, skin and hair follicle development. SUBUNIT: Binds DNA (By similarity). SUBCELLULAR LOCATION: Nucleus. TISSUE SPECIFICITY: Expression is likely to be restricted to bone. Found in parietal bone. DISEASE: Defects in ALX4 are the cause of parietal foramina 2 (PFM2) [MIM:609597]; also known as foramina parietalia permagna (FPP). PFM2 is an autosomal dominant disease characterized by oval defects of the parietal bones caused by deficient ossification around the parietal notch, which is normally obliterated during the fifth fetal month. PFM2 is also a clinical feature of Potocki- Shaffer syndrome. DISEASE: Defects in ALX4 are the cause of frontonasal dysplasia type 2 (FND2) [MIM:613451]. 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. DISEASE: Defects in ALX4 are a cause of Potocki-Shaffer syndrome (POSHS) [MIM:601224]. A contiguous gene syndrome caused by deletion of the 11p11.2 region. SIMILARITY: Belongs to the paired homeobox family. SIMILARITY: Contains 1 homeobox DNA-binding domain. SEQUENCE CAUTION: Sequence=AAG23961.1; Type=Frameshift; Positions=314, 323, 340; Sequence=BAB47417.1; Type=Erroneous initiation; WEB RESOURCE: Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/ALX4";
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 Q9H161
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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:0000977 RNA polymerase II regulatory region sequence-specific DNA binding GO:0000981 RNA polymerase II transcription factor activity, sequence-specific DNA binding GO:0001228 transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific binding GO:0003677 DNA binding GO:0003700 transcription factor activity, sequence-specific DNA binding GO:0043565 sequence-specific DNA binding GO:0046982 protein heterodimerization activity GO:0071837 HMG box domain binding
Biological Process: GO:0001501 skeletal system development GO:0001942 hair follicle development GO:0006351 transcription, DNA-templated GO:0006355 regulation of transcription, DNA-templated GO:0006357 regulation of transcription from RNA polymerase II promoter GO:0006366 transcription from RNA polymerase II promoter GO:0007275 multicellular organism development GO:0007389 pattern specification process GO:0007517 muscle organ development GO:0009791 post-embryonic development GO:0009952 anterior/posterior pattern specification GO:0035108 limb morphogenesis GO:0035115 embryonic forelimb morphogenesis GO:0035116 embryonic hindlimb morphogenesis GO:0042733 embryonic digit morphogenesis GO:0042981 regulation of apoptotic process GO:0045944 positive regulation of transcription from RNA polymerase II promoter GO:0048565 digestive tract development GO:0048704 embryonic skeletal system morphogenesis GO:0048705 skeletal system morphogenesis GO:0060021 palate development
US Server
Sequence and Links to Tools and Databases 
Common Gene Haplotype Alleles 
