MKKS - MKKS centrosomal shuttling protein Gene

Homo sapiens

Also known as KMS; MKS; BBS6; HMCS

Gene ID: 8195 | Gene type: protein coding

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

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

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

Pre-clinical Phase

Bioactive Molecules (16)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-10542	GW 5074		99.49%	Unkown
HY-13866	Ro 31-8220 mesylate	Inhibitor	99.28%	Unkown
HY-152185	BSJ-04-122		99.75%	Unkown
HY-124953	7,3',4'-Trihydroxyisoflavone		99.98%	Unkown
HY-122872	MKK7-COV-9	Inhibitor	97.69%	Unkown
HY-119917	Gossypetin	Inhibitor	99.82%	Unkown
HY-19345A	Vacquinol-1 dihydrochloride		99.44%	Unkown
HY-100538A	DTP3 TFA	Inhibitor	98.00%	Unkown
HY-100538	DTP3	Inhibitor	99.56%	Unkown
HY-N0811	Anemarsaponin B	Inhibitor	/	Unkown
HY-13866A	Ro 31-8220	Inhibitor	/	Unkown
HY-150612	(R)-STU104	Inhibitor	/	Unkown
HY-15496	E6201	Inhibitor	/	Unkown
HY-14411	JNK-1-IN-1	Inhibitor	/	Unkown
HY-19345	Vacquinol-1		/	Unkown
HY-RS08471	MKKS Human Pre-designed siRNA Set A		/	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

Name
Email *

	Sorry, but the email address you supplied was invalid.