Human Gene PAX1 (ENST00000398485.6) from GENCODE V44
Description: Homo sapiens paired box 1 (PAX1), transcript variant 1, mRNA. (from RefSeq NM_006192) RefSeq Summary (NM_001257096): This gene is a member of the paired box (PAX) family of transcription factors. Members of the PAX family typically contain a paired box domain and a paired-type homeodomain. These genes play critical roles during fetal development. This gene plays a role in pattern formation during embryogenesis and may be essential for development of the vertebral column. This gene is silenced by methylation in ovarian and cervical cancers and may be a tumor suppressor gene. Mutations in this gene are also associated with vertebral malformations. [provided by RefSeq, Mar 2012]. Gencode Transcript: ENST00000398485.6 Gencode Gene: ENSG00000125813.15 Transcript (Including UTRs) Position: hg38 chr20:21,705,659-21,715,982 Size: 10,324 Total Exon Count: 5 Strand: + Coding Region Position: hg38 chr20:21,705,713-21,714,803 Size: 9,091 Coding Exon Count: 5
ID:PAX1_HUMAN DESCRIPTION: RecName: Full=Paired box protein Pax-1; AltName: Full=HuP48; FUNCTION: This protein is a transcriptional activator. It may play a role in the formation of segmented structures of the embryo. May play an important role in the normal development of the vertebral column (By similarity). SUBCELLULAR LOCATION: Nucleus. SIMILARITY: Contains 1 paired domain. SEQUENCE CAUTION: Sequence=AAH69134.1; Type=Erroneous initiation; Note=Translation N-terminally extended; Sequence=AAU21037.1; Type=Erroneous initiation; Note=Translation N-terminally extended; WEB RESOURCE: Name=NIEHS-SNPs; URL="http://egp.gs.washington.edu/data/pax1/";
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 P15863
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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:0000978 RNA polymerase II core promoter proximal region sequence-specific DNA binding GO:0000981 RNA polymerase II transcription factor activity, sequence-specific DNA binding GO:0001077 transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding GO:0003677 DNA binding GO:0003700 transcription factor activity, sequence-specific DNA binding
Biological Process: GO:0001501 skeletal system development GO:0001756 somitogenesis GO:0006351 transcription, DNA-templated GO:0006355 regulation of transcription, DNA-templated GO:0006366 transcription from RNA polymerase II promoter GO:0007275 multicellular organism development GO:0007389 pattern specification process GO:0008283 cell proliferation GO:0043367 CD4-positive, alpha-beta T cell differentiation GO:0043374 CD8-positive, alpha-beta T cell differentiation GO:0045944 positive regulation of transcription from RNA polymerase II promoter GO:0048538 thymus development GO:0060017 parathyroid gland development GO:0060349 bone morphogenesis GO:0061056 sclerotome development
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