Human Gene MKS1 (ENST00000313863.10) Description and Page Index
Description: Homo sapiens MKS transition zone complex subunit 1 (MKS1), transcript variant 5, mRNA. (from RefSeq NM_001330397) RefSeq Summary (NM_001330397): The protein encoded by this gene localizes to the basal body and is required for formation of the primary cilium in ciliated epithelial cells. Mutations in this gene result in Meckel syndrome type 1 and in Bardet-Biedl syndrome type 13. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2009]. 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. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: SRR1660805.177428.1, SRR1803614.63856.1 [ECO:0000332] RNAseq introns :: mixed/partial sample support SAMEA1965299, SAMEA1966682 [ECO:0000350] ##Evidence-Data-END## Gencode Transcript: ENST00000313863.10 Gencode Gene: ENSG00000011143.16 Transcript (Including UTRs) Position: hg38 chr17:58,205,453-58,219,232 Size: 13,780 Total Exon Count: 16 Strand: - Coding Region Position: hg38 chr17:58,206,283-58,219,230 Size: 12,948 Coding Exon Count: 15
ID:H0Y2S2_HUMAN DESCRIPTION: SubName: Full=Meckel syndrome type 1 protein; CAUTION: The sequence shown here is derived from an Ensembl automatic analysis pipeline and should be considered as preliminary data.
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: PF07162 - Ciliary basal body-associated, B9 protein
ModBase Predicted Comparative 3D Structure on H0Y2S2
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.
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.