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 

Page IndexSequence and LinksUniProtKB CommentsMalaCardsCTDRNA-Seq Expression
Microarray ExpressionRNA StructureProtein StructureOther SpeciesmRNA DescriptionsOther Names
Data last updated: 2019-09-04

-  Sequence and Links to Tools and Databases
Genomic Sequence (chr17:58,205,453-58,219,232)mRNA (may differ from genome)Protein (456 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaBioGPS
CGAPEnsemblEntrez GeneExonPrimerGeneCardsHGNC
LynxMGImyGene2OMIMPubMedStanford SOURCE

-  Comments and Description Text from UniProtKB
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.

-  MalaCards Disease Associations
  MalaCards Gene Search: MKS1
Diseases sorted by gene-association score: meckel syndrome 1* (1598), bardet-biedl syndrome 13* (1236), joubert syndrome 28* (919), polydactyly* (416), joubert syndrome 1* (290), chronic kidney failure* (283), joubert syndrome with ocular anomalies* (247), bardet-biedl syndrome* (126), mks1-related bardet-biedl syndrome* (100), mks1-related meckel syndrome* (100), encephalocele (27), ciliopathy (7), hydrolethalus syndrome (6), apraxia (6), senior-loken syndrome-1 (4), bardet-biedl syndrome 11 (4), nephronophthisis (3)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 10.99 RPKM in Testis
Total median expression: 227.61 RPKM

View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
RegionFold EnergyBasesEnergy/Base
Display As
3' UTR -259.30718-0.361 Picture PostScript Text

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.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR010796 - B9_dom

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.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
Genome BrowserGenome BrowserNo orthologNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
Protein SequenceProtein Sequence    

-  Descriptions from all associated GenBank mRNAs
  LF209249 - JP 2014500723-A/16752: Polycomb-Associated Non-Coding RNAs.
MA444826 - JP 2018138019-A/16752: Polycomb-Associated Non-Coding RNAs.
BC010061 - Homo sapiens Meckel syndrome, type 1, mRNA (cDNA clone MGC:19519 IMAGE:3952532), complete cds.
AK000352 - Homo sapiens cDNA FLJ20345 fis, clone HEP13723.
JD508805 - Sequence 489829 from Patent EP1572962.
KJ904781 - Synthetic construct Homo sapiens clone ccsbBroadEn_14175 MKS1 gene, encodes complete protein.
KU178661 - Homo sapiens Meckel syndrome type 1 isoform 1 (MKS1) mRNA, partial cds, alternatively spliced.
KU178662 - Homo sapiens Meckel syndrome type 1 isoform 2 (MKS1) mRNA, complete cds, alternatively spliced.
KU178663 - Homo sapiens Meckel syndrome type 1 isoform 3 (MKS1) mRNA, complete cds.
DQ185029 - Homo sapiens FABB proteome-like protein mRNA, complete cds.
JD193509 - Sequence 174533 from Patent EP1572962.
JD047794 - Sequence 28818 from Patent EP1572962.
JD304922 - Sequence 285946 from Patent EP1572962.
JD503066 - Sequence 484090 from Patent EP1572962.
JD096029 - Sequence 77053 from Patent EP1572962.
JD251008 - Sequence 232032 from Patent EP1572962.
JD086849 - Sequence 67873 from Patent EP1572962.
JD166736 - Sequence 147760 from Patent EP1572962.
JD313880 - Sequence 294904 from Patent EP1572962.
AK310815 - Homo sapiens cDNA, FLJ17857.
AK301020 - Homo sapiens cDNA FLJ53497 complete cds, highly similar to Meckel syndrome type 1 protein.
JD449937 - Sequence 430961 from Patent EP1572962.
JD552865 - Sequence 533889 from Patent EP1572962.
JD563799 - Sequence 544823 from Patent EP1572962.
JD183357 - Sequence 164381 from Patent EP1572962.
JD231127 - Sequence 212151 from Patent EP1572962.
JD465248 - Sequence 446272 from Patent EP1572962.
JD179575 - Sequence 160599 from Patent EP1572962.
JD450105 - Sequence 431129 from Patent EP1572962.
CR457229 - Homo sapiens full open reading frame cDNA clone RZPDo834F0512D for gene FLJ20345, hypothetical protein FLJ20345; complete cds, incl. stopcodon.
LF327235 - JP 2014500723-A/134738: Polycomb-Associated Non-Coding RNAs.
MA562812 - JP 2018138019-A/134738: Polycomb-Associated Non-Coding RNAs.
LF327234 - JP 2014500723-A/134737: Polycomb-Associated Non-Coding RNAs.
MA562811 - JP 2018138019-A/134737: Polycomb-Associated Non-Coding RNAs.
JD048553 - Sequence 29577 from Patent EP1572962.
JD067924 - Sequence 48948 from Patent EP1572962.
JD396463 - Sequence 377487 from Patent EP1572962.
JD455823 - Sequence 436847 from Patent EP1572962.
LF327233 - JP 2014500723-A/134736: Polycomb-Associated Non-Coding RNAs.
MA562810 - JP 2018138019-A/134736: Polycomb-Associated Non-Coding RNAs.

-  Other Names for This Gene
  Alternate Gene Symbols: H0Y2S2, H0Y2S2_HUMAN, NM_001330397, uc060hwr.1
UCSC ID: uc060hwr.1
RefSeq Accession: NM_001330397
Protein: H0Y2S2 CCDS: CCDS82170.1

-  GeneReviews for This Gene
  GeneReviews article(s) related to gene MKS1:
bbs (Bardet-Biedl Syndrome)
hepatic-fibrosis (Congenital Hepatic Fibrosis Overview)
joubert (Joubert Syndrome)

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.