MKKS - MKKS centrosomal shuttling protein Gene

Also Known as KMS; MKS; BBS6; HMCS

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 8195

About MKKS

Cytogenetic location: 20p12.2 Genomic coordinates (GRCh38): 20:10,401,009-10,434,222 (from NCBI)

This gene has 4 transcripts (splice variants), 195 orthologues, 13 paralogues and is associated with 5 phenotypes. Ubiquitous expression in kidney (RPKM 13.4), testis (RPKM 12.8) and 25 other tissues.

Summary

This gene encodes a protein which shares sequence similarity with Other members of the type II chaperonin family. The encoded protein is a centrosome-shuttling protein and plays an important role in cytokinesis. This protein also interacts with Other type II chaperonin members to form a complex known as the BBSome, which involves ciliary membrane biogenesis. This protein is encoded by a downstream open reading frame (dORF). Several upstream open reading frames (uORFs) have been identified, which repress the translation of the dORF, and two of which can encode small mitochondrial membrane proteins. Mutations in this gene have been observed in patients with Bardet-Biedl syndrome type 6, also known as McKusick-Kaufman syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2013]

MKKS Products (4)

mRNA	Protein	Name
NM_001394148.1	NP_001381077.1	molecular chaperone MKKS isoform 2
NM_001394149.1	NP_001381078.1	molecular chaperone MKKS isoform 3
NM_018848.3	NP_061336.1	molecular chaperone MKKS isoform 1
NM_170784.3	NP_740754.1	molecular chaperone MKKS isoform 1

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Verweise	Source
enables RNA polymerase II-specific DNA-binding transcription factor binding	IPI IPI: Inferred from physical interaction	22302990	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	16327777	GOA

Biological Process GO Annotation	Evidence	Verweise	Source
involved in cilium assembly	IMP IMP: Inferred from mutant phenotype	28753627	GOA

Cellular Component GO Annotation	Evidence	Verweise	Source
located in cytoplasm	IDA IDA: Inferred from direct assay	28753627	GOA
located in nucleus	IDA IDA: Inferred from direct assay	28753627	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

MKKS Protein Structure

Cpn60_TCP1

0
100
200
300
400
500
570 a.a.

Protein Preferred Names	Protein Names
molecular chaperone MKKS	Bardet-Biedl syndrome 6 protein

MKKS Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Verweise
Intra	MKKS	Q9NPJ1	CDR2	Homo sapiens	Q01850	Y2H Prey Pooling	32296183
Intra	MKKS	Q9NPJ1	CDR2	Homo sapiens	Q01850	Y2H Array	32296183
Intra	MKKS	Q9NPJ1	BBS12	Homo sapiens	Q6ZW61	Anti Tag CoIP	20080638
Intra	MKKS	Q9NPJ1	BBS12	Homo sapiens	Q6ZW61	Anti Tag CoIP	26900326
Intra	MKKS	Q9NPJ1	BBS12	Homo sapiens	Q6ZW61	Anti Tag CoIP	22500027
Intra	MKKS	Q9NPJ1	ZBED1	Homo sapiens	O96006	Y2H Prey Pooling	32296183
Intra	MKKS	Q9NPJ1	ZBED1	Homo sapiens	O96006	Y2H Array	32296183
Intra	MKKS	Q9NPJ1	BBS2	Homo sapiens	Q9BXC9	Anti Tag CoIP	22500027

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases	Alias
Mckusick-Kaufman Syndrome	MKKS Hydrometrocolpos, Postaxial Polydactyly, And Congenital Heart Malformation Hmcs Kaufman-Mckusick Syndrome Hydrometrocolpos Syndrome Hydrometrocolpos-Postaxial Polydactyly Syndrome Kaufman Mckusick Syndrome Mckusick Kaufman Syndrome Mks
Bardet-Biedl Syndrome 6	BBS6 Bardet-Biedl Syndrome, Type 6
Bardet-Biedl Syndrome	Bbs Biedl-Bardet Syndrome
Nephronophthisis	Medullary Cystic Disease Medullary Cystic Kidney Nph Nphp Kidney Disease, Cystic, Medullary
Juvenile Nephronophthisis	Nephronophthisis Nephronophthisis, Familial Juvenile
Fundus Dystrophy	Retinal Dystrophy Retinal Dystrophies Dystrophy, Retinal
Multicystic Dysplastic Kidney	Multicystic Renal Dysplasia Multicystic Kidney Dysplasia Mcdk Multiple Congenital Cysts Of Kidney Developmental Multicystic Kidney
Bardet-Biedl Syndrome 1	BBS1 Bardet-Biedl Syndrome 1, Modifier Of Bardet-Biedl Syndrome BBS Bardet-Biedl Syndrome, Type 1 Laurence-Moon-Bardet-Biedl Syndrome
Polydactyly	Non-Syndromic Polydactyly Polydactyly, Postaxial Postaxial Polydactyly Supernumerary Digit Extra Digits Hyperdactyly Polydactylia Polydactylism Supernumerary Digits
Anthrax Disease	Anthrax Ragpicker'S Disease Black Baine Malignant Edema Malignant Pustule Siberian Plague Wool Sorter'S Disease Gas Gangrene Cutaneous Anthrax Anthrax Infection Splenic Fever
Progressive Cone Dystrophy	Cone Dystrophy Cone Dystrophy Progressive
Polycystic Kidney Disease	Polycystic Kidney Diseases Pkd Polycystic Renal Disease Kidney Disease, Polycystic Polycystic Kidney, Autosomal Dominant
Heart Disease	Heart Failure Congenital Heart Disease Heart Diseases Congenital Heart Defects Congenital Heart Defect Heart Malformation Congenital Anomaly Of Heart Heart Defect Heart-Congenital Defect Congenital Heart Disorder Heart Defects Congenital Heart Defects, Congenital Heart Defects Heart Disease, Congenital Disease, Heart, Congenital Congestive Heart Failure
Bardet-Biedl Syndrome 13	BBS13 Bardet-Biedl Syndrome, Type 13
Bardet-Biedl Syndrome 11	BBS11 Bardet-Biedl Syndrome Bbs Bardet-Biedl Syndrome, Type 11
Developmental And Epileptic Encephalopathy 12	Epileptic Encephalopathy, Early Infantile, 12 DEE12 Eiee12 Early Infantile Epileptic Encephalopathy 12 Developmental And Epileptic Encephalopathy, 12 Encephalopathy, Epileptic, Early Infantile, Type 12
Meckel Syndrome, Type 1	Meckel-Gruber Syndrome Meckel Syndrome Dysencephalia Splanchnocystica Meckel Syndrome 1 MKS1 Mks Gruber Syndrome Meckel-Gruber Syndrome, Type 1 Mes Dysencephalia Splachnocystica Meckel Gruber Syndrome Meckel Syndrome Type 1
Bardet-Biedl Syndrome 18	BBS18 Bardet-Biedl Syndrome, Type 18
Inhalation Anthrax	Pulmonary Anthrax Respiratory Anthrax Inhalational Anthrax Wool-Sorters' Disease Woolsorters' Disease Inhalation Anthrax Disease Respiratory Anthrax Disease
Cutaneous Anthrax	Anthrax, Skin Type Skin Anthrax
Acromesomelic Dysplasia 2c	Acromesomelic Dysplasia, Hunter-Thompson Type Acromesomelic Dysplasia 2c, Hunter-Thompson Type AMD2C Acromesomelic Dwarfism Amdh Acromesomelic Dwarfism Acromesomelic Dysplasia-2c Acromesomelic Dysplasia Hunter Thompson Type Acromesomelic Chondrodysplasia, Hunter-Thompson Type Amdh Dysplasia, Acromesomelic, Type 2c, Hunter-Thompson Acromesomelic Dysplasia Hunter-Thompson Type
Tetralogy Of Fallot	TOF Fallot Tetralogy Ventricular Septal Defect With Pulmonary Stenosis Or Atresia, Dextraposition Of Aorta, And Hypertrophy Of Right Ventricle Tetrad Of Fallot Fallot Tetrad Fallot Disease Fallot Complex Subpulmonic Stenosis, Ventricular Septal Defect, Overriding Aorta, And Right Ventricular Hypertrophy Interventricular Septal Defect With Dextroposition Of Aorta, Pulmonary Stenosis And Hypertrophy Of Right Ventricle Interventricular Septal Defect, In Tetralogy Of Fallot Ventricular Septal Defect With Obstructed Right Ventricular Outflow Tof - [Tetralogy Of Fallot] Pulmonary Atresia With Ventricular Septal Defect [Fallot Type] Pulmonary Atresia, Ventricular Septal Defect And Mapcas Pulmonary Atresia With Ventricular Septal Defect And Systemic-To-Pulmonary Collateral Arteries [Fallot Type]
Renal-Hepatic-Pancreatic Dysplasia	Ivemark'S Syndrome Ivemark Ii Syndrome Renohepaticopancreatic Dysplasia
Retinitis Pigmentosa	RP Rod-Cone Dystrophy Autosomal Recessive Retinitis Pigmentosa Non-Syndromic Retinitis Pigmentosa Pericentral Pigmentary Retinopathy Pigmentary Retinopathy Tapetoretinal Degeneration Rcd Retinitis Pigmentosa Autosomal Recessive ARRP Retinitis Pigmentosa, Autosomal Recessive Retinitis Pigmentosa 1
Retinal Degeneration	Degeneration Of Retina
Body Mass Index Quantitative Trait Locus 11	OBESITY Obesity, Susceptibility To Leanness, Inherited Obesity, Susceptibility To, Bmiq11 Obesity, Mild, Early-Onset Obesity, Association With Obesity, Early-Onset, Susceptibility To Obesity, Severe Obesity, Severe, And Type Ii Diabetes Obesity, Late-Onset Obesity , Susceptibility To BMIQ11 Obesity Bmiq11 Obesity, Early-Onset Simple Obesity Nos Excess Fat Obesity, Not Elsewhere Classified, Body Mass Index Not Elsewhere Classified Adiposis
Ellis-Van Creveld Syndrome	Chondroectodermal Dysplasia Mesoectodermal Dysplasia EVC Ellis Van Creveld Syndrome Mesodermic Dysplasia Ellis-Van Creveld Dysplasia
Cone Dystrophy	Retinal Cone Dystrophy Dystrophy, Cone Cone Dystrophy 3
Chromosome 2q35 Duplication Syndrome	Syndactyly Syndactyly Type 1 Sdty1 Zygodactyly Syndactyly, Type I Sd1 Syndactyly, Type 1, With Or Without Craniosynostosis Symphalangism Non-Syndromic Syndactyly Symphalangy Webbing Of Digits Syndactyly, Type 1
Joubert Syndrome 1	Joubert Syndrome Jbts Cerebellooculorenal Syndrome 1 JBTS1 Joubert-Boltshauser Syndrome Cerebelloparenchymal Disorder Iv Cpd4 Cors1 Joubert Syndrome And Related Disorders Jsrd Familial Aplasia Of The Vermis Joubert Syndrome Related Disorders Js Cerebellar Vermis Agenesis Cerebelloparenchymal Disorder 4 Agenesis Of Cerebellar Vermis Cerebello-Oculo-Renal Syndrome Cors Joubert-Bolthauser Syndrome Cpd Iv Classic Joubert Syndrome Joubert Syndrome Type A Pure Joubert Syndrome Cerebello-Oculo-Renal Syndrome 1 Joubert Syndrome-1 Joubert Syndrome, Type 1 Joubert'S Syndrome
Leber Plus Disease	Leber Congenital Amaurosis Lca Leber'S Amaurosis Leber'S Disease Amaurosis Congenita Of Leber Amaurosis Congenita Of Leber, Type 1 Lhon Plus Disease Congenital Absence Of The Rods And Cones Congenital Retinal Blindness Crb Congenital Amaurosis Of Retinal Origin Leber'S Congenital Amaurosis Leber Congenital Amaurosis 1 Leber'S Congenital Tapetoretinal Degeneration Leber'S Congenital Tapetoretinal Dysplasia Lca1 Leber Congenital Amaurosis Type 1 Retinal Blindness, Congenital Amaurosis, Leber Congenital Dysgenesis Neuroepithelialis Retinae Hereditary Epithelial Dysplasia Of Retina Hereditary Retinal Aplasia Heredoretinopathia Congenitalis Leber Abiotrophy Leber Congenital Tapetoretinal Degeneration Lebers Congenital Amaurosis Optic Atrophy, Hereditary, Leber
Cone-Rod Dystrophy 2	Cone-Rod Dystrophy CORD2 Cone-Rod Retinal Dystrophy Rcrd2 Cone-Rod Retinal Dystrophy 2 Crd2 Cord Crd Retinal Cone-Rod Dystrophy Cone-Rod Retinal Dystrophy-2 Retinal Cone-Rod Dystrophy 2 Tapetoretinal Degeneration Cone-Rod Degeneration Cone Rod Dystrophy Dystrophy, Cone-Rod Dystrophy, Cone-Rod, Type 2 Retinitis Pigmentosa Retinitis Pigmentosa 2 Progressive Cone-Rod Dystrophy

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Approval
Pre-clinical Phase

Approval

Bioactive Molecules (2)

Art. -Nr.	Produktname	Wirkung	Reinheit	Rare Diseases
HY-B1451A	Imidapril	Inhibitor	99.0%	Yes
HY-B1451	Imidapril hydrochloride	Inhibitor	99.91%	Yes

Pre-clinical Phase

Bioactive Molecules (27)

Art. -Nr.	Produktname	Wirkung	Reinheit	Rare Diseases
HY-10542	GW 5074		99.54%	Unkown
HY-152860	Darizmetinib		99.94%	Unkown
HY-152185	BSJ-04-122		99.88%	Unkown
HY-13866	Ro 31-8220 mesylate		99.57%	Unkown
HY-119917	Gossypetin	Inhibitor	99.82%	Unkown
HY-124953	7,3',4'-Trihydroxyisoflavone		99.83%	Unkown
HY-19345A	Vacquinol-1 dihydrochloride	Activator	99.70%	Unkown
HY-100538	DTP3	Inhibitor	98.45%	Unkown
HY-122872	MKK7-COV-9	Inhibitor	97.34%	Unkown
HY-150612	(R)-STU104	Inhibitor	99.91%	Unkown
HY-100538A	DTP3 TFA	Inhibitor	98.20%	Unkown
HY-179044	MKK7-JNK activator 1		99.89%	Unkown
HY-N6579	Arvenin I		89.41%	Unkown
HY-121683	(E)-2-Hexadecenal		99.9%	Unkown
HY-150612S	(R)-STU104-d6		99.90%	Unkown
HY-N0811	Anemarsaponin B	Inhibitor	99.43%	Unkown
HY-13866A	Ro 31-8220		/	Unkown
HY-14411	JNK-1-IN-1	Inhibitor	/	Unkown
HY-177802	C3 sodium	Inhibitor	/	Unkown
HY-181812	JNK2/MKK7 PPI-IN-1	Inhibitor	/	Unkown
HY-19345	Vacquinol-1		99.33%	Unkown
HY-E70759	MKK6 SDTD Recombinant Human Active Protein Kinase		/	Unkown
HY-N11723	Catenarin	Inhibitor	/	Unkown
HY-P10852	TAT-MKK3b	Inhibitor	/	Unkown
HY-RS08471	MKKS Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-176228	WEIZ-WX-04-008	Inhibitor	/	Unkown
HY-B1451S	Imidapril-d3 hydrochloride	Inhibitor	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Mus musculus	MKKS	MGD	MGI:1891836
Macaca mulatta	MKKS	VGNC	VGNC:105443
Felis catus	MKKS	VGNC	VGNC:105441
Bos taurus	MKKS	VGNC	VGNC:105440
Rattus norvegicus	MKKS	RGD	RGD:1308814
Canis familiaris	MKKS	VGNC	VGNC:105439
Others	MKKS	NCBI