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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] See more...
Aliases for MKS1 Gene
Aliases for MKS1 Gene
External Ids for MKS1 Gene
- HGNC: 7121
- Entrez Gene: 54903
- Ensembl: ENSG00000011143
- OMIM: 609883
- UniProtKB: Q9NXB0
Previous HGNC Symbols for MKS1 Gene
- MKS
Previous GeneCards Identifiers for MKS1 Gene
- GC17U990060
- GC17M053638
- GC17M056282
- GC17M051643
Summaries for MKS1 Gene
-
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]
GeneCards Summary for MKS1 Gene
MKS1 (MKS Transition Zone Complex Subunit 1) is a Protein Coding gene. Diseases associated with MKS1 include Meckel Syndrome, Type 1 and Bardet-Biedl Syndrome 13. Among its related pathways are Organelle biogenesis and maintenance and Signaling by GPCR. An important paralog of this gene is B9D2.
UniProtKB/Swiss-Prot Summary for MKS1 Gene
-
Component of the tectonic-like complex, a complex localized at the transition zone of primary cilia and acting as a barrier that prevents diffusion of transmembrane proteins between the cilia and plasma membranes. Involved in centrosome migration to the apical cell surface during early ciliogenesis. Required for ciliary structure and function, including a role in regulating length and appropriate number through modulating centrosome duplication. Required for cell branching morphology.
Additional gene information for MKS1 Gene
- HGNC(7121)
- Entrez Gene(54903)
- Ensembl(ENSG00000011143)
- OMIM(609883)
- UniProtKB(Q9NXB0)
- Open Targets Platform(ENSG00000011143)
- Monarch Initiative
- Search for MKS1 at DataMed
- Search for MKS1 at HumanCyc
No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for MKS1 Gene
Genomics for MKS1 Gene
GeneHancer (GH) Regulatory Elements Pubs
Promoters and enhancers for MKS1 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data from 2017 publication |
Request up-to-date GeneHancer data (full dataset)
GeneHancers around MKS1 on the GeneHancer Hub at the UCSC Golden Path
Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for MKS1
- Top Transcription factor binding sites by QIAGEN in the MKS1 gene promoter:
-
- IRF-1
- Meis-1
- NF-kappaB
- NF-kappaB1
- Nkx6-1
- p53
- RelA
- STAT3
Genomic Locations for MKS1 Gene
Genomic Locations for MKS1 Gene
- chr17:58,205,436-58,219,605
- (GRCh38/hg38)
- Size:
- 14,170 bases
- Orientation:
- Minus strand
- chr17:56,282,797-56,296,966
- (GRCh37/hg19)
- Size:
- 14,170 bases
- Orientation:
- Minus strand
Genomic View for MKS1 Gene
Genes around MKS1 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 17q22 by HGNC
- 17q22 by Entrez Gene
- 17q22 by Ensembl
MKS1 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene Density
RefSeq DNA sequence for MKS1 Gene
Proteins for MKS1 Gene
-
Protein details for MKS1 Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- Q9NXB0-MKS1_HUMAN
- Recommended name:
- Meckel syndrome type 1 protein
- Protein Accession:
- Q9NXB0
- B7WNX4
- F5H885
- Q284T0
- Q96G13
Protein attributes for MKS1 Gene
- Size:
- 559 amino acids
- Molecular mass:
- 64528 Da
- Quaternary structure:
-
- Part of the tectonic-like complex (also named B9 complex) (PubMed:26595381). Interacts with TMEM107 (PubMed:26595381). Interacts with TCTN3, AHI1, TCTN1, TCTN2, CC2D2A (By similarity). Interacts with FLNA (PubMed:22121117). Interacts with TMEM67 (PubMed:17185389). Interacts with B9D1 and B9D2 (By similarity).
- SequenceCaution:
-
- Sequence=AAH10061.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305}; Sequence=BAA91105.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305};
Protein Expression for MKS1 Gene
Post-translational modifications for MKS1 Gene
Other Protein References for MKS1 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
- G Biosciences Immunotag™ MKS1 Antibody
- Novus Biologicals Antibodies for MKS1
-
Abcam antibodies for MKS1
- Invitrogen Antibodies for MKS1 (AFLGC-MKS1)
-
Boster Bio Antibodies for MKS1
Protein Products
-
OriGene Purified Proteins for MKS1
- Search Origene for MassSpec and Protein Over-expression Lysates for MKS1
- Origene Custom Protein Services for MKS1
- antibodies-online: Show 3 available MKS1 Proteins ranked by validation data
- Compare Top MKS1 Proteins
-
Quality Products:
-
Signalway Proteins for MKS1
Assay Products
- antibodies-online: Search results for available MKS1 related products ranked by validation data
-
Signalway ELISA kits for MKS1
No data available for DME Specific Peptides for MKS1 Gene
Domains & Families for MKS1 Gene
Gene Families for MKS1 Gene
- HGNC:
- Human Protein Atlas (HPA):
-
- Disease related genes
- Predicted intracellular proteins
Suggested Antigen Peptide Sequences for MKS1 Gene
- GenScript: Design optimal peptide antigens:
-
- Meckel syndrome type 1 protein (MKS1_HUMAN)
No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for MKS1 Gene
Function for MKS1 Gene
Molecular function for MKS1 Gene
- UniProtKB/Swiss-Prot Function:
- Component of the tectonic-like complex, a complex localized at the transition zone of primary cilia and acting as a barrier that prevents diffusion of transmembrane proteins between the cilia and plasma membranes. Involved in centrosome migration to the apical cell surface during early ciliogenesis. Required for ciliary structure and function, including a role in regulating length and appropriate number through modulating centrosome duplication. Required for cell branching morphology.
Phenotypes From GWAS Catalog for MKS1 Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005515 | protein binding | IPI | 17185389 |
Phenotypes for MKS1 Gene
- MGI mutant phenotypes for MKS1:
-
inferred from 4 alleles
- nervous system phenotype
- immune system phenotype
- respiratory system phenotype
- cardiovascular system phenotype
- cellular phenotype
- mortality/aging
- homeostasis/metabolism phenotype
- growth/size/body region phenotype
- liver/biliary system phenotype
- renal/urinary system phenotype
- digestive/alimentary phenotype
- endocrine/exocrine gland phenotype
- reproductive system phenotype
- vision/eye phenotype
- limbs/digits/tail phenotype
- hearing/vestibular/ear phenotype
- skeleton phenotype
- hematopoietic system phenotype
- integument phenotype
- embryo phenotype
- craniofacial phenotype
- GenomeRNAi human phenotypes for MKS1:
Animal Models for MKS1 Gene
- MGI Knock Outs for MKS1:
-
- Mks1 Mks1<tm1a(EUCOMM)Wtsi>
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for MKS1 - Select products 50% OFF >
- * MKS1 CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for MKS1
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for MKS1
-
Santa Cruz Biotechnology (SCBT) CRISPR for MKS1
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for MKS1
- Browse OriGene Inhibitory RNA Products For MKS1
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for MKS1
Clone Products
- Applied Biological Materials (abm): Clones for MKS1 - Select products 50% OFF >
- * MKS1 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
- Sino Biological Human cDNA Clone for MKS1
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for MKS1
Cell Line Products
-
Horizon Cell Lines for MKS1
No data available for Enzyme Numbers (IUBMB) , miRNA , Transcription Factor Targets and HOMER Transcription for MKS1 Gene
Localization for MKS1 Gene
Subcellular locations from UniProtKB/Swiss-Prot for MKS1 Gene
- Cytoplasm, cytoskeleton, cilium basal body. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome. Note=Localizes at the transition zone, a region between the basal body and the ciliary axoneme. {ECO:0000269 PubMed:26490104}.
| Compartment | Confidence |
|---|---|
| cytoskeleton | 5 |
| cytosol | 4 |
| plasma membrane | 2 |
| nucleus | 2 |
| extracellular | 1 |
| mitochondrion | 1 |
| peroxisome | 1 |
| endoplasmic reticulum | 1 |
| endosome | 1 |
| golgi apparatus | 1 |
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005737 | cytoplasm | IEA,IDA | 17185389 |
| GO:0005813 | centrosome | IDA | 19208769 |
| GO:0005814 | centriole | IEA | -- |
| GO:0005815 | microtubule organizing center | IEA | -- |
| GO:0005829 | cytosol | TAS | -- |
No data available for Subcellular locations from the Human Protein Atlas (HPA) for MKS1 Gene
Pathways & Interactions for MKS1 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Organelle biogenesis and maintenance |
.56
|
|
| 2 | Signaling by Hedgehog | ||
| 3 | Regulation of PLK1 Activity at G2/M Transition | ||
| 4 | Signaling by GPCR | ||
| 5 | Ectoderm Differentiation | ||
Pathways by source for MKS1 Gene
1 BioSystems pathway for MKS1 Gene
6 Reactome pathways for MKS1 Gene
Interacting Proteins for MKS1 Gene
Selected Interacting proteins:
Q9NXB0-MKS1_HUMAN
ENSP00000376827
for MKS1 Gene via
UniProtKB
STRING
IID
GPS-Prot Interaction Network for MKS1
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0001843 | neural tube closure | IEA | -- |
| GO:0003271 | smoothened signaling pathway involved in regulation of secondary heart field cardioblast proliferation | IEA | -- |
| GO:0007368 | determination of left/right symmetry | IEA | -- |
| GO:0008589 | regulation of smoothened signaling pathway | IEA | -- |
| GO:0010669 | epithelial structure maintenance | IEA | -- |
No data available for SIGNOR curated interactions for MKS1 Gene
Transcripts for MKS1 Gene
mRNA/cDNA for MKS1 Gene
- 5 REFSEQ mRNAs :
- 11 NCBI additional mRNA sequence :
- 13 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :
-
- ENST00000313863 2091 nts (view in UCSC)
- ENST00000393119 2343 nts (view in UCSC)
- ENST00000393120 1926 nts (view in UCSC)
- ENST00000537529 2083 nts (view in UCSC)
- ENST00000577315 495 nts (view in UCSC)
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for MKS1 - Select products 50% OFF >
- * MKS1 CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for MKS1
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for MKS1
-
Santa Cruz Biotechnology (SCBT) CRISPR for MKS1
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for MKS1
- Browse OriGene Inhibitory RNA Products For MKS1
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for MKS1
Clone Products
- Applied Biological Materials (abm): Clones for MKS1 - Select products 50% OFF >
- * MKS1 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
- Sino Biological Human cDNA Clone for MKS1
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for MKS1
| ExUns: | 1 | ^ | 2 | ^ | 3 | ^ | 4 | ^ | 5 | ^ | 6a | · | 6b | · | 6c | ^ | 7 | ^ | 8a | · | 8b | ^ | 9a | · | 9b | · | 9c | ^ | 10 | ^ | 11a | · | 11b | ^ | 12 | ^ | 13a | · | 13b |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| SP1: | - | - | - | - | - | - | - | ||||||||||||||||||||||||||||||||
| SP2: | - | ||||||||||||||||||||||||||||||||||||||
| SP3: | |||||||||||||||||||||||||||||||||||||||
| SP4: | |||||||||||||||||||||||||||||||||||||||
| SP5: | - | ||||||||||||||||||||||||||||||||||||||
| SP6: |
Relevant External Links for MKS1 Gene
- GeneLoc Exon Structure for
- MKS1
Expression for MKS1 Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
This gene is overexpressed in Adipocyte (53.4) and Retina (15.5).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for MKS1 Gene
- Elite partner
Transcriptomic regulation report from SPP (The Signaling Pathways Project) for MKS1
SOURCE GeneReport for Unigene cluster for MKS1 Gene:
Hs.408843Evidence on tissue expression from TISSUES for MKS1 Gene
- Nervous system(2.8)
- Kidney(2.4)
- Liver(2.2)
- Eye(2.1)
- Skin(2.1)
Phenotype-based relationships between genes and organs from Gene ORGANizer for MKS1 Gene
Germ Layers:
- ectoderm
- endoderm
- mesoderm
Systems:
- cardiovascular
- digestive
- endocrine
- immune
- integumentary
- lymphatic
- nervous
- reproductive
- respiratory
- skeletal muscle
- skeleton
- urinary
Regions:
Head and neck:
- brain
- cerebellum
- cerebrospinal fluid
- cheek
- chin
- cranial nerve
- ear
- eye
- eyelid
- face
- forehead
- head
- jaw
- larynx
- lip
- mandible
- maxilla
- meninges
- middle ear
- mouth
- neck
- nose
- olfactory bulb
- outer ear
- pituitary gland
- skull
- tongue
- tooth
Thorax:
- aorta
- breast
- bronchus
- clavicle
- diaphragm
- esophagus
- heart
- heart valve
- lung
Abdomen:
- abdominal wall
- adrenal gland
- biliary tract
- duodenum
- gallbladder
- intestine
- kidney
- large intestine
- liver
- pancreas
- small intestine
- spleen
- stomach
Pelvis:
- anus
- ovary
- pelvis
- penis
- placenta
- prostate
- rectum
- testicle
- ureter
- urethra
- urinary bladder
- uterus
- vagina
- vulva
Limb:
- ankle
- arm
- digit
- femur
- fibula
- finger
- foot
- forearm
- hand
- humerus
- lower limb
- radius
- shin
- shoulder
- thigh
- tibia
- toe
- ulna
- upper limb
General:
- blood
- blood vessel
- hair
- peripheral nerve
- peripheral nervous system
- skin
- spinal column
- spinal cord
- vertebrae
- white blood cell
Primer Products
-
OriGene qPCR primer pairs for MKS1
-
OriGene qPCR primer pairs and template standards for MKS1
Gene Expression Assay Products
No data available for mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for MKS1 Gene
Orthologs for MKS1 Gene
This gene was present in the common ancestor of animals.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| Chimpanzee (Pan troglodytes) |
Mammalia | MKS1 30 31 |
|
OneToOne | |
| Dog (Canis familiaris) |
Mammalia | MKS1 30 31 |
|
OneToOne | |
| Cow (Bos Taurus) |
Mammalia | LOC101905689 30 |
|
||
| MKS1 31 |
|
OneToOne | |||
| Mouse (Mus musculus) |
Mammalia | Mks1 30 17 31 |
|
OneToOne | |
| Rat (Rattus norvegicus) |
Mammalia | Mks1 30 |
|
||
| Platypus (Ornithorhynchus anatinus) |
Mammalia | MKS1 31 |
|
OneToOne | |
| Oppossum (Monodelphis domestica) |
Mammalia | MKS1 31 |
|
OneToOne | |
| Chicken (Gallus gallus) |
Aves | MKS1 30 31 |
|
OneToOne | |
| Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | mks1 30 |
|
||
| Str.19301 30 |
|
||||
| African clawed frog (Xenopus laevis) |
Amphibia | Xl.13433 30 |
|
||
| Zebrafish (Danio rerio) |
Actinopterygii | mks1 30 31 |
|
OneToOne | |
| Fruit Fly (Drosophila melanogaster) |
Insecta | CG15730 31 |
|
OneToOne | |
| Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
OneToOne |
- Species where no ortholog for MKS1 was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Eremothecium gossypii)
- Actinobacteria (Mycobacterium tuberculosis)
- African malaria mosquito (Anopheles gambiae)
- Alicante grape (Vitis vinifera)
- Alpha proteobacteria (Wolbachia pipientis)
- Amoeba (Dictyostelium discoideum)
- Archea (Pyrococcus horikoshii)
- Baker's yeast (Saccharomyces cerevisiae)
- Barley (Hordeum vulgare)
- Beta proteobacteria (Neisseria meningitidis)
- Bread mold (Neurospora crassa)
- Chromalveolata (Phytophthora infestans)
- Common water flea (Daphnia pulex)
- Corn (Zea mays)
- E. coli (Escherichia coli)
- Filamentous fungi (Aspergillus nidulans)
- Firmicute Bacteria (Streptococcus pneumoniae)
- Fission Yeast (Schizosaccharomyces pombe)
- Green Algae (Chlamydomonas reinhardtii)
- Honey Bee (Apis mellifera)
- K. Lactis Yeast (Kluyveromyces lactis)
- Lizard (Anolis carolinensis)
- Loblloly Pine (Pinus taeda)
- Malaria Parasite (Plasmodium falciparum)
- Medicago Trunc (Medicago Truncatula)
- Moss (Physcomitrella patens)
- Orangutan (Pongo pygmaeus)
- Pig (Sus scrofa)
- Rainbow Trout (Oncorhynchus mykiss)
- Rice (Oryza sativa)
- Rice Blast Fungus (Magnaporthe grisea)
- Schistosome Parasite (Schistosoma mansoni)
- Sea Anemone (Nematostella vectensis)
- Sea Vase (Ciona intestinalis)
- Sea Urchin (Strongylocentrotus purpuratus)
- Sorghum (Sorghum bicolor)
- Soybean (Glycine max)
- Stem Rust Fungus (Puccinia graminis)
- Sugarcane (Saccharum officinarum)
- Thale Cress (Arabidopsis thaliana)
- Tomato (Lycopersicon esculentum)
- Toxoplasmosis (Toxoplasma gondii)
- Trichoplax (Trichoplax adhaerens)
- Wheat (Triticum aestivum)
- Worm (Caenorhabditis elegans)
Evolution for MKS1 Gene
- ENSEMBL:
- Gene Tree for MKS1 (if available)
- TreeFam:
- Gene Tree for MKS1 (if available)
- Aminode:
- Evolutionary constrained regions (ECRs) for MKS1: view image
Paralogs for MKS1 Gene
Variants for MKS1 Gene
Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for MKS1 Gene
| SNP ID | Clinical significance and condition | Chr 17 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| 638836 | Uncertain Significance: Joubert syndrome; Meckel-Gruber syndrome | 58,213,053(-) | A/G | MISSENSE_VARIANT | |
| 645921 | Uncertain Significance: Joubert syndrome; Meckel-Gruber syndrome | 58,207,935(-) | C/T | MISSENSE_VARIANT | |
| 651697 | Uncertain Significance: Joubert syndrome; Meckel-Gruber syndrome | 58,213,819(-) | C/G | MISSENSE_VARIANT | |
| 656438 | Uncertain Significance: Joubert syndrome; Meckel-Gruber syndrome | 58,206,541(-) | G/C | MISSENSE_VARIANT,INTRON_VARIANT | |
| 674917 | Benign: not provided | 58,213,195(-) | A/G | INTRON_VARIANT |
Residual Variation Intolerance Score:
72.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
2.35;
41.77% of all genes are more intolerant (likely to be disease-causing)
Additional Variant Information for MKS1 Gene
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for MKS1 Gene
Disorders for MKS1 Gene
(53) MalaCards diseases for MKS1 Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, and GeneCards
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| meckel syndrome, type 1 |
|
|
| bardet-biedl syndrome 13 |
|
|
| joubert syndrome 28 |
|
|
| polydactyly |
|
|
| joubert syndrome 1 |
|
Search MKS1 in MalaCards
View complete list of genes associated with diseases
UniProtKB/Swiss-Prot
MKS1_HUMAN- Meckel syndrome 1 (MKS1) [MIM:249000]: A disorder characterized by a combination of renal cysts and variably associated features including developmental anomalies of the central nervous system (typically encephalocele), hepatic ductal dysplasia and cysts, and polydactyly. {ECO:0000269 PubMed:16415886, ECO:0000269 PubMed:19466712, ECO:0000269 PubMed:26490104}. Note=The disease is caused by mutations affecting the gene represented in this entry.
- Bardet-Biedl syndrome 13 (BBS13) [MIM:615990]: A syndrome characterized by usually severe pigmentary retinopathy, early-onset obesity, polydactyly, hypogenitalism, renal malformation and mental retardation. Secondary features include diabetes mellitus, hypertension and congenital heart disease. Bardet-Biedl syndrome inheritance is autosomal recessive, but three mutated alleles (two at one locus, and a third at a second locus) may be required for clinical manifestation of some forms of the disease. {ECO:0000269 PubMed:18327255}. Note=The disease is caused by mutations affecting the gene represented in this entry.
- Joubert syndrome 28 (JBTS28) [MIM:617121]: A form of Joubert syndrome, a disorder presenting with cerebellar ataxia, oculomotor apraxia, hypotonia, neonatal breathing abnormalities and psychomotor delay. Neuroradiologically, it is characterized by cerebellar vermian hypoplasia/aplasia, thickened and reoriented superior cerebellar peduncles, and an abnormally large interpeduncular fossa, giving the appearance of a molar tooth on transaxial slices (molar tooth sign). Additional variable features include retinal dystrophy, renal disease, liver fibrosis, and polydactyly. JBTS28 inheritance is autosomal recessive. {ECO:0000269 PubMed:24886560}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Additional Disease Information for MKS1
- Genetic Association Database
- (GAD)
- Human Genome Epidemiology Navigator
- (HuGE)
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
- Open Targets Platform
No data available for Genatlas for MKS1 Gene
Publications for MKS1 Gene
- Functional interactions between the ciliopathy-associated Meckel syndrome 1 (MKS1) protein and two novel MKS1-related (MKSR) proteins. (PMID: 19208769) Bialas NJ … Leroux MR (Journal of cell science 2009) 3 4 23
- The Meckel-Gruber Syndrome proteins MKS1 and meckelin interact and are required for primary cilium formation. (PMID: 17185389) Dawe HR … Johnson CA (Human molecular genetics 2007) 3 4 23
- A disease causing deletion of 29 base pairs in intron 15 in the MKS1 gene is highly associated with the campomelic variant of the Meckel-Gruber syndrome. (PMID: 17935508) Auber B … Rehder H (Clinical genetics 2007) 3 23 41
- Spectrum of MKS1 and MKS3 mutations in Meckel syndrome: a genotype-phenotype correlation. Mutation in brief #960. Online. (PMID: 17397051) Khaddour R … SOFFOET (Société Française de Foetopathologie) (Human mutation 2007) 3 23 41
- MKS1, encoding a component of the flagellar apparatus basal body proteome, is mutated in Meckel syndrome. (PMID: 16415886) Kyttälä M … Kestilä M (Nature genetics 2006) 2 3 4
ExternalLinks
Products for MKS1 Gene
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- Origene Custom Protein Services for MKS1
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- Browse OriGene Inhibitory RNA Products For MKS1
- OriGene qPCR primer pairs for MKS1
- OriGene qPCR primer pairs and template standards for MKS1
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- Browse OriGene miRNA Products For MKS1
- Sino Biological Human cDNA Clone for MKS1
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- High-throughput Antibody Production Service
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- Novus Biologicals proteins and lysates for MKS1
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- Browse ELISA Kits
- Abcam antibodies for MKS1
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- Invitrogen Antibodies for MKS1 (AFLGC-MKS1)
- VectorBuilder Custom and pre-made DNA vectors for MKS1 (ie. gene expression, shRNA knockdown, CRISPR)
- VectorBuilder Viral vectors for MKS1 (ie. lentivirus, AAV, adenovirus)
- VectorBuilder CRISPR vectors for MKS1 (ie. knockout, knockin, CRISPRa, CRISPRi)
- VectorBuilder Virus packaging for MKS1 CRISPR vectors (ie. lentivirus, AAV, adenovirus)
- VectorBuilder Stable cell line generation for MKS1
- antibodies-online: Show 28 available MKS1 Antibodies ranked by validation data
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- antibodies-online: Search results for available MKS1 related products ranked by validation data
- antibodies-online: Show 3 available MKS1 Proteins ranked by validation data
- Compare Top MKS1 Proteins
- Quality Products:
- Horizon Cell Lines for MKS1
- Browse GeneCopoeia Cell Lines
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for MKS1
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for MKS1
- Search GeneCopoeia for miRNA 3'UTR Target clone products for MKS1
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for MKS1
- Boster Bio Antibodies for MKS1
- Browse Boster Bio ELISA Kits
Sources for MKS1 Gene
- (1) GeneCards
- (2) HGNC
- (3) NCBI Entrez Gene
- (4) UniProtKB/Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) Cell Signaling Technology
- (12) GO
- (13) UniProtKB/TrEMBL
- (14) InterPro
- (15) ProtoNet
- (16) Blocks
- (17) MGI
- (18) IUBMB
- (19) KEGG
- (20) MINT
- (21) STRING
- (22) IntAct
- (23) Novoseek
- (24) PharmGKB
- (25) DrugBank
- (26) HMDB
- (27) ASD
- (28) SAGE
- (29) SOURCE
- (30) HomoloGene
- (31) PanEnsembl
- (32) euGenes
- (33) SGD
- (34) FlyBase
- (35) WormBase
- (36) Pseudogene
- (37) DGV
- (38) dbSNP
- (39) GenAtlas
- (40) HGMD
- (41) GAD
- (42) BGMUT
- (43) HuGE
- (44) Atlas
- (45) GenBank
- (46) HORDE
- (47) HUGE
- (48) IMGT
- (49) Leiden
- (50) miRBase
- (51) DME
- (52) OriGene
- (53) PubMed
- (54) R&D Systems
- (55) TGDB
- (56) Tocris
- (57) Abcam
- (58) Novus Biologicals
- (59) ProSpec
- (60) Sino Biological
- (61) GenScript
- (62) Qiagen
- (63) OCA
- (64) Proteopedia
- (65) MOPED
- (66) neXtProt
- (67) Reactome
- (68) GeneGo (Thomson Reuters)
- (69) DISEASES
- (70) SIMAP
- (71) GenomeRNAi
- (72) LifeMap
- (73) miRTarBase
- (74) MalaCards
- (75) Invitrogen
- (76) BitterDB
- (77) ESI-BIO
- (78) RefSeq
- (79) BioSystems
- (80) MaxQB
- (81) IUPHAR
- (82) BioGPS
- (83) Illumina
- (84) COMPARTMENTS
- (85) HOMER
- (86) PaxDb
- (87) ApexBio
- (88) Addgene
- (89) antibodies-online
- (90) CYP
- (91) NONCODE
- (92) TreeFam
- (93) PathCards
- (94) GeneReviews
- (95) GeneTex
- (96) Taconic Biosciences
- (97) GTEx
- (98) ProteomicsDB
- (99) SCBT
- (100) DGIdb
- (101) ClinicalTrials
- (102) RVIS
- (103) SIGNOR
- (104) diseasecard
- (105) NIH Rare Diseases
- (106) Orphanet
- (107) UMLS
- (108) GTR
- (109) Disease Ontology
- (110) Genetics Home Reference
- (111) MeSH
- (112) MedlinePlus
- (113) CDC
- (114) NINDS
- (115) NCBI Bookshelf
- (116) ClinVar
- (117) Gene Damage Index
- (118) HPO
- (119) UDN
- (120) VISTA
- (121) FANTOM5
- (122) ENCODE
- (123) ProSci
- (124) Horizon
- (125) The Signaling Pathways Project (SPP)
- (126) IID
- (127) VectorBuilder
- (128) SNPedia
- (129) BRCA Exchange
- (130) CIViC
- (131) ProteoGenix
- (132) dbSUPER
- (133) TISSUES
- (134) Gene ORGANizer
- (135) abm
- (136) Human Protein Atlas
- (137) GWAS Catalog
- (138) Monarch Initiative
- (139) DataMed
- (140) HumanCyc
- (141) UCNEbase
- (142) EPDnew
- (143) Applied Biosystems
- (144) GlyConnect
- (145) Aminode
- (146) GeneCopoeia
- (147) GPS-Prot
- (148) RNACentral
- (149) LncRNADisease
- (150) LOVD
- (151) miR2Disease
- (152) DiseaseEnhancer
- (153) Boster Bio
- (154) Biorbyt
- (155) Biocompare
- (156) Mastermind
- (157) CTD^2 Dashboard
- (158) CraniofacialAtlas
- (159) GeneImprint
- (160) Synthego
- (161) ENA
- (162) GtRNAdb
- (163) LncBase
- (164) LncBook
- (165) LNCipedia
- (166) Modomics
- (167) PDBe
- (168) Rfam
- (169) SILVA
- (170) snOPY
- (171) SRPDB
- (172) GENCODE
- (173) TarBase
- (174) Signalway Antibody
- (175) Open Targets Platform
- (176) 5SRRNADB
- (177) snoDB
- (178) MirGeneDB