Description: Homo sapiens hydrolethalus syndrome 1 (HYLS1), transcript variant 1, mRNA. RefSeq Summary (NM_145014): This gene encodes a protein localized to the cytoplasm. Mutations in this gene are associated with hydrolethalus syndrome. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Oct 2008]. Transcript (Including UTRs) Position: hg19 chr11:125,753,509-125,770,541 Size: 17,033 Total Exon Count: 4 Strand: + Coding Region Position: hg19 chr11:125,769,264-125,770,163 Size: 900 Coding Exon Count: 1
ID:HYLS1_HUMAN DESCRIPTION: RecName: Full=Hydrolethalus syndrome protein 1; SUBCELLULAR LOCATION: Cytoplasm. DISEASE: Defects in HYLS1 are the cause of hydrolethalus syndrome type 1 (HLS1) [MIM:236680]. HLS1 is a lethal malformation syndrome leading to stillbirth or death shortly after birth. It is characterized by hydrocephaly with absent upper midline structures of the brain, micrognathia and polydactyly. SIMILARITY: Belongs to the HYLS1 family. SEQUENCE CAUTION: Sequence=AAH15047.1; Type=Erroneous initiation;
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.
Pfam Domains: PF15311 - Hydrolethalus syndrome protein 1 C-terminus
ModBase Predicted Comparative 3D Structure on Q96M11
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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.
US Server
