Type |
Details |
Score |
Gene |
Type: |
gene |
Organism: |
human |
|
•
•
•
•
•
|
Gene |
Type: |
gene |
Organism: |
frog, western clawed |
|
•
•
•
•
•
|
Gene |
Type: |
gene |
Organism: |
chimpanzee |
|
•
•
•
•
•
|
Gene |
Type: |
gene |
Organism: |
cattle |
|
•
•
•
•
•
|
Gene |
Type: |
gene |
Organism: |
chicken |
|
•
•
•
•
•
|
Gene |
Type: |
gene |
Organism: |
zebrafish |
|
•
•
•
•
•
|
Gene |
Type: |
gene |
Organism: |
macaque, rhesus |
|
•
•
•
•
•
|
Gene |
|
•
•
•
•
•
|
Gene |
Type: |
gene |
Organism: |
dog, domestic |
|
•
•
•
•
•
|
Protein Domain |
Type: |
Family |
Description: |
Molecular chaperone MKKS (also known as BBS6) is a chaperonin-like protein that is involved in folding newly synthesised polypeptides []. As part of the BBS/CCT complex mediates BBSome assembly, which is involved in regulating ciliogenesis and transport of vesicles to the cilia []. During mitosis, MKKS localises throughout the pericentriolar material (PCM) and the intercellular bridge. It is required for cytokinesis []. It may play a role in protein processing in limb, cardiac and reproductive system development [].Mutations in MKKS gene cause McKusick-Kaufman syndrome (MKKS), which is autosomal recessive developmental disorder []. Mutations in MKKS gene also cause Bardet-Biedl syndrome 6 (BBS6), which is characterised by usually severe pigmentary retinopathy, early-onset obesity, polydactyly, hypogenitalism, renal malformation and mental retardation []. |
|
•
•
•
•
•
|
Protein Coding Gene |
Type: |
protein_coding_gene |
Organism: |
mouse, laboratory |
|
•
•
•
•
•
|
Publication |
First Author: |
Stone DL |
Year: |
2000 |
Journal: |
Nat Genet |
Title: |
Mutation of a gene encoding a putative chaperonin causes McKusick-Kaufman syndrome. |
Volume: |
25 |
Issue: |
1 |
Pages: |
79-82 |
|
•
•
•
•
•
|
Protein |
Organism: |
Mus musculus/domesticus |
Length: |
121
|
Fragment?: |
false |
|
•
•
•
•
•
|
Publication |
First Author: |
Seo S |
Year: |
2010 |
Journal: |
Proc Natl Acad Sci U S A |
Title: |
BBS6, BBS10, and BBS12 form a complex with CCT/TRiC family chaperonins and mediate BBSome assembly. |
Volume: |
107 |
Issue: |
4 |
Pages: |
1488-93 |
|
•
•
•
•
•
|
Publication |
First Author: |
Kim JC |
Year: |
2005 |
Journal: |
J Cell Sci |
Title: |
MKKS/BBS6, a divergent chaperonin-like protein linked to the obesity disorder Bardet-Biedl syndrome, is a novel centrosomal component required for cytokinesis. |
Volume: |
118 |
Issue: |
Pt 5 |
Pages: |
1007-20 |
|
•
•
•
•
•
|
Publication |
First Author: |
Scott CA |
Year: |
2017 |
Journal: |
PLoS Genet |
Title: |
Nuclear/cytoplasmic transport defects in BBS6 underlie congenital heart disease through perturbation of a chromatin remodeling protein. |
Volume: |
13 |
Issue: |
7 |
Pages: |
e1006936 |
|
•
•
•
•
•
|
Publication |
First Author: |
Rachel RA |
Year: |
2012 |
Journal: |
J Clin Invest |
Title: |
Combining Cep290 and Mkks ciliopathy alleles in mice rescues sensory defects and restores ciliogenesis. |
Volume: |
122 |
Issue: |
4 |
Pages: |
1233-45 |
|
•
•
•
•
•
|
Protein |
Organism: |
Mus musculus/domesticus |
Length: |
502
|
Fragment?: |
false |
|
•
•
•
•
•
|
Protein |
Organism: |
Mus musculus/domesticus |
Length: |
570
|
Fragment?: |
false |
|
•
•
•
•
•
|
Publication |
First Author: |
Fath MA |
Year: |
2005 |
Journal: |
Hum Mol Genet |
Title: |
Mkks-null mice have a phenotype resembling Bardet-Biedl syndrome. |
Volume: |
14 |
Issue: |
9 |
Pages: |
1109-18 |
|
•
•
•
•
•
|
Protein Coding Gene |
Type: |
protein_coding_gene |
Organism: |
Mus caroli |
|
•
•
•
•
•
|
Protein Coding Gene |
Type: |
protein_coding_gene |
Organism: |
mouse, laboratory |
|
•
•
•
•
•
|
Protein Coding Gene |
Type: |
protein_coding_gene |
Organism: |
mouse, laboratory |
|
•
•
•
•
•
|
Protein Coding Gene |
Type: |
protein_coding_gene |
Organism: |
mouse, laboratory |
|
•
•
•
•
•
|
Protein Coding Gene |
Type: |
protein_coding_gene |
Organism: |
mouse, laboratory |
|
•
•
•
•
•
|
Protein Coding Gene |
Type: |
protein_coding_gene |
Organism: |
mouse, laboratory |
|
•
•
•
•
•
|
Protein Coding Gene |
Type: |
protein_coding_gene |
Organism: |
mouse, laboratory |
|
•
•
•
•
•
|
Protein Coding Gene |
Type: |
protein_coding_gene |
Organism: |
mouse, laboratory |
|
•
•
•
•
•
|
Protein Coding Gene |
Type: |
protein_coding_gene |
Organism: |
mouse, laboratory |
|
•
•
•
•
•
|
Protein Coding Gene |
Type: |
protein_coding_gene |
Organism: |
mouse, laboratory |
|
•
•
•
•
•
|
Protein Coding Gene |
Type: |
protein_coding_gene |
Organism: |
mouse, laboratory |
|
•
•
•
•
•
|
Protein Coding Gene |
Type: |
protein_coding_gene |
Organism: |
mouse, laboratory |
|
•
•
•
•
•
|
Protein Coding Gene |
Type: |
protein_coding_gene |
Organism: |
mouse, laboratory |
|
•
•
•
•
•
|
Protein Coding Gene |
Type: |
protein_coding_gene |
Organism: |
mouse, laboratory |
|
•
•
•
•
•
|
Protein Coding Gene |
Type: |
protein_coding_gene |
Organism: |
mouse, laboratory |
|
•
•
•
•
•
|
Protein Coding Gene |
Type: |
protein_coding_gene |
Organism: |
mouse, laboratory |
|
•
•
•
•
•
|
Protein Coding Gene |
Type: |
protein_coding_gene |
Organism: |
mouse, laboratory |
|
•
•
•
•
•
|
Protein Coding Gene |
Type: |
protein_coding_gene |
Organism: |
Mus pahari |
|
•
•
•
•
•
|
Protein Coding Gene |
Type: |
protein_coding_gene |
Organism: |
Mus spretus |
|
•
•
•
•
•
|
GXD Expression |
Probe: |
MGI:3841748 |
Assay Type: |
RT-PCR |
Annotation Date: |
2009-04-29 |
Strength: |
Present |
Sex: |
Not Specified |
Emaps: |
EMAPS:3589918 |
|
Stage: |
TS18 |
Assay Id: |
MGI:3842098 |
Age: |
embryonic day 11.0 |
|
|
Specimen Label: |
None |
Detected: |
true |
Specimen Num: |
1 |
|
•
•
•
•
•
|
GXD Expression |
Probe: |
MGI:3841748 |
Assay Type: |
RT-PCR |
Annotation Date: |
2009-04-29 |
Strength: |
Present |
Sex: |
Not Specified |
Emaps: |
EMAPS:3589918 |
|
Stage: |
TS18 |
Assay Id: |
MGI:3842098 |
Age: |
embryonic day 11.0 |
|
|
Specimen Label: |
None |
Detected: |
true |
Specimen Num: |
2 |
|
•
•
•
•
•
|
GXD Expression |
Probe: |
MGI:6781701 |
Assay Type: |
RT-PCR |
Annotation Date: |
2021-10-25 |
Strength: |
Present |
Sex: |
Not Specified |
Emaps: |
EMAPS:3673015 |
|
Stage: |
TS15 |
Assay Id: |
MGI:6781748 |
Age: |
embryonic day 9.5 |
|
|
Specimen Label: |
pSHF |
Detected: |
true |
Specimen Num: |
1 |
|
•
•
•
•
•
|
GXD Expression |
Probe: |
MGI:6781701 |
Assay Type: |
RT-PCR |
Annotation Date: |
2021-10-25 |
Strength: |
Present |
Sex: |
Not Specified |
Emaps: |
EMAPS:1603915 |
|
Stage: |
TS15 |
Assay Id: |
MGI:6781748 |
Age: |
embryonic day 9.5 |
|
|
Specimen Label: |
embryo |
Detected: |
true |
Specimen Num: |
2 |
|
•
•
•
•
•
|
GXD Expression |
Probe: |
MGI:6883645 |
Assay Type: |
RT-PCR |
Annotation Date: |
2022-02-28 |
Strength: |
Present |
Sex: |
Not Specified |
Emaps: |
EMAPS:1689421 |
|
Stage: |
TS21 |
Assay Id: |
MGI:6883649 |
Age: |
embryonic day 13.5 |
|
|
Specimen Label: |
Control |
Detected: |
true |
Specimen Num: |
1 |
|
•
•
•
•
•
|
GXD Expression |
Probe: |
MGI:7327431 |
Assay Type: |
RT-PCR |
Annotation Date: |
2022-08-08 |
Strength: |
Present |
Sex: |
Not Specified |
Emaps: |
EMAPS:1689428 |
|
Stage: |
TS28 |
Assay Id: |
MGI:7327603 |
Age: |
postnatal |
|
|
Specimen Label: |
+/+ +RT |
Detected: |
true |
Specimen Num: |
1 |
|
•
•
•
•
•
|
GXD Expression |
Probe: |
MGI:7327431 |
Assay Type: |
RT-PCR |
Annotation Date: |
2022-08-08 |
Strength: |
Present |
Sex: |
Not Specified |
Emaps: |
EMAPS:1689428 |
|
Stage: |
TS28 |
Assay Id: |
MGI:7327603 |
Age: |
postnatal |
|
|
Specimen Label: |
+/- +RT |
Detected: |
true |
Specimen Num: |
3 |
|
•
•
•
•
•
|
GXD Expression |
Probe: |
MGI:7327431 |
Assay Type: |
RT-PCR |
Annotation Date: |
2022-08-08 |
Strength: |
Absent |
Sex: |
Not Specified |
Emaps: |
EMAPS:1689428 |
|
Stage: |
TS28 |
Assay Id: |
MGI:7327603 |
Age: |
postnatal |
|
|
Specimen Label: |
-/- +RT |
Detected: |
false |
Specimen Num: |
5 |
|
•
•
•
•
•
|
GXD Expression |
|
Assay Type: |
In situ reporter (knock in) |
Annotation Date: |
2022-08-08 |
Strength: |
Present |
Sex: |
Not Specified |
Emaps: |
EMAPS:1619821 |
Pattern: |
Not Specified |
Stage: |
TS21 |
Assay Id: |
MGI:7327599 |
Age: |
embryonic day 13.5 |
|
|
Specimen Label: |
S2c |
Detected: |
true |
Specimen Num: |
4 |
|
•
•
•
•
•
|
GXD Expression |
|
Assay Type: |
In situ reporter (knock in) |
Annotation Date: |
2022-08-08 |
Strength: |
Present |
Sex: |
Not Specified |
Emaps: |
EMAPS:3265221 |
Pattern: |
Not Specified |
Stage: |
TS21 |
Assay Id: |
MGI:7327599 |
Age: |
embryonic day 13.5 |
|
|
Specimen Label: |
S2c |
Detected: |
true |
Specimen Num: |
4 |
|
•
•
•
•
•
|
GXD Expression |
|
Assay Type: |
In situ reporter (knock in) |
Annotation Date: |
2022-08-08 |
Strength: |
Present |
Sex: |
Not Specified |
Emaps: |
EMAPS:3276321 |
Pattern: |
Regionally restricted |
Stage: |
TS21 |
Assay Id: |
MGI:7327599 |
Age: |
embryonic day 13.5 |
|
Note: |
Expression is in the snout. |
Specimen Label: |
S2c |
Detected: |
true |
Specimen Num: |
4 |
|
•
•
•
•
•
|
GXD Expression |
|
Assay Type: |
In situ reporter (knock in) |
Annotation Date: |
2022-08-08 |
Strength: |
Strong |
Sex: |
Not Specified |
Emaps: |
EMAPS:1757227 |
Pattern: |
Not Specified |
Stage: |
TS27 |
Assay Id: |
MGI:7327599 |
Age: |
postnatal day 0 |
|
|
Specimen Label: |
3b left |
Detected: |
true |
Specimen Num: |
1 |
|
•
•
•
•
•
|
GXD Expression |
|
Assay Type: |
In situ reporter (knock in) |
Annotation Date: |
2022-08-08 |
Strength: |
Strong |
Sex: |
Not Specified |
Emaps: |
EMAPS:1757227 |
Pattern: |
Not Specified |
Stage: |
TS27 |
Assay Id: |
MGI:7327599 |
Age: |
postnatal day 0 |
|
|
Specimen Label: |
3b right |
Detected: |
true |
Specimen Num: |
2 |
|
•
•
•
•
•
|
GXD Expression |
|
Assay Type: |
In situ reporter (knock in) |
Annotation Date: |
2022-08-08 |
Strength: |
Strong |
Sex: |
Not Specified |
Emaps: |
EMAPS:1915527 |
Pattern: |
Not Specified |
Stage: |
TS27 |
Assay Id: |
MGI:7327599 |
Age: |
postnatal day 0 |
|
|
Specimen Label: |
3b left |
Detected: |
true |
Specimen Num: |
1 |
|
•
•
•
•
•
|
GXD Expression |
|
Assay Type: |
In situ reporter (knock in) |
Annotation Date: |
2022-08-08 |
Strength: |
Strong |
Sex: |
Not Specified |
Emaps: |
EMAPS:1915527 |
Pattern: |
Not Specified |
Stage: |
TS27 |
Assay Id: |
MGI:7327599 |
Age: |
postnatal day 0 |
|
|
Specimen Label: |
3b right |
Detected: |
true |
Specimen Num: |
2 |
|
•
•
•
•
•
|
GXD Expression |
Probe: |
MGI:7327430 |
Assay Type: |
RNA in situ |
Annotation Date: |
2022-08-08 |
Strength: |
Present |
Sex: |
Not Specified |
Emaps: |
EMAPS:1666817 |
Pattern: |
Not Specified |
Stage: |
TS17 |
Assay Id: |
MGI:7327604 |
Age: |
embryonic day 10.5 |
|
|
Specimen Label: |
S2a |
Detected: |
true |
Specimen Num: |
1 |
|
•
•
•
•
•
|
GXD Expression |
|
Assay Type: |
In situ reporter (knock in) |
Annotation Date: |
2022-08-08 |
Strength: |
Present |
Sex: |
Not Specified |
Emaps: |
EMAPS:1666819 |
Pattern: |
Not Specified |
Stage: |
TS19 |
Assay Id: |
MGI:7327599 |
Age: |
embryonic day 11.5 |
|
|
Specimen Label: |
S2b |
Detected: |
true |
Specimen Num: |
3 |
|
•
•
•
•
•
|
GXD Expression |
Probe: |
MGI:3819450 |
Assay Type: |
RNA in situ |
Annotation Date: |
2009-01-23 |
Strength: |
Present |
Sex: |
Not Specified |
Emaps: |
EMAPS:1603913 |
Pattern: |
Widespread |
Stage: |
TS13 |
Assay Id: |
MGI:3828695 |
Age: |
embryonic day 8.5 |
|
|
Specimen Label: |
E8.5 |
Detected: |
true |
Specimen Num: |
1 |
|
•
•
•
•
•
|
GXD Expression |
|
Assay Type: |
In situ reporter (knock in) |
Annotation Date: |
2022-08-08 |
Strength: |
Strong |
Sex: |
Not Specified |
Emaps: |
EMAPS:1915727 |
Pattern: |
Not Specified |
Stage: |
TS27 |
Assay Id: |
MGI:7327599 |
Age: |
postnatal day 0 |
|
|
Specimen Label: |
3b left |
Detected: |
true |
Specimen Num: |
1 |
|
•
•
•
•
•
|
GXD Expression |
|
Assay Type: |
In situ reporter (knock in) |
Annotation Date: |
2022-08-08 |
Strength: |
Strong |
Sex: |
Not Specified |
Emaps: |
EMAPS:1915727 |
Pattern: |
Not Specified |
Stage: |
TS27 |
Assay Id: |
MGI:7327599 |
Age: |
postnatal day 0 |
|
|
Specimen Label: |
3b right |
Detected: |
true |
Specimen Num: |
2 |
|
•
•
•
•
•
|
GXD Expression |
|
Assay Type: |
In situ reporter (knock in) |
Annotation Date: |
2022-08-08 |
Strength: |
Strong |
Sex: |
Not Specified |
Emaps: |
EMAPS:1759727 |
Pattern: |
Regionally restricted |
Stage: |
TS27 |
Assay Id: |
MGI:7327599 |
Age: |
postnatal day 0 |
|
Note: |
Expression is at the basal end of Kolliker's organ. |
Specimen Label: |
3b left |
Detected: |
true |
Specimen Num: |
1 |
|
•
•
•
•
•
|
GXD Expression |
|
Assay Type: |
In situ reporter (knock in) |
Annotation Date: |
2022-08-08 |
Strength: |
Strong |
Sex: |
Not Specified |
Emaps: |
EMAPS:1759727 |
Pattern: |
Regionally restricted |
Stage: |
TS27 |
Assay Id: |
MGI:7327599 |
Age: |
postnatal day 0 |
|
Note: |
Expression is at the basal end of Kolliker's organ. |
Specimen Label: |
3b right |
Detected: |
true |
Specimen Num: |
2 |
|
•
•
•
•
•
|
GXD Expression |
|
Assay Type: |
In situ reporter (knock in) |
Annotation Date: |
2022-08-08 |
Strength: |
Absent |
Sex: |
Not Specified |
Emaps: |
EMAPS:1906127 |
|
Stage: |
TS27 |
Assay Id: |
MGI:7327599 |
Age: |
postnatal day 0 |
|
|
Specimen Label: |
3b left |
Detected: |
false |
Specimen Num: |
1 |
|
•
•
•
•
•
|
GXD Expression |
|
Assay Type: |
In situ reporter (knock in) |
Annotation Date: |
2022-08-08 |
Strength: |
Absent |
Sex: |
Not Specified |
Emaps: |
EMAPS:1906127 |
|
Stage: |
TS27 |
Assay Id: |
MGI:7327599 |
Age: |
postnatal day 0 |
|
|
Specimen Label: |
3b right |
Detected: |
false |
Specimen Num: |
2 |
|
•
•
•
•
•
|
GXD Expression |
|
Assay Type: |
In situ reporter (knock in) |
Annotation Date: |
2022-08-08 |
Strength: |
Present |
Sex: |
Not Specified |
Emaps: |
EMAPS:1758921 |
Pattern: |
Not Specified |
Stage: |
TS21 |
Assay Id: |
MGI:7327599 |
Age: |
embryonic day 13.5 |
|
|
Specimen Label: |
S2c |
Detected: |
true |
Specimen Num: |
4 |
|
•
•
•
•
•
|
GXD Expression |
|
Assay Type: |
In situ reporter (knock in) |
Annotation Date: |
2022-08-08 |
Strength: |
Present |
Sex: |
Not Specified |
Emaps: |
EMAPS:1741921 |
Pattern: |
Not Specified |
Stage: |
TS21 |
Assay Id: |
MGI:7327599 |
Age: |
embryonic day 13.5 |
|
|
Specimen Label: |
S2c |
Detected: |
true |
Specimen Num: |
4 |
|
•
•
•
•
•
|
GXD Expression |
|
Assay Type: |
In situ reporter (knock in) |
Annotation Date: |
2022-08-08 |
Strength: |
Present |
Sex: |
Not Specified |
Emaps: |
EMAPS:3274419 |
Pattern: |
Not Specified |
Stage: |
TS19 |
Assay Id: |
MGI:7327599 |
Age: |
embryonic day 11.5 |
|
|
Specimen Label: |
S2b |
Detected: |
true |
Specimen Num: |
3 |
|
•
•
•
•
•
|
GXD Expression |
|
Assay Type: |
In situ reporter (knock in) |
Annotation Date: |
2022-08-08 |
Strength: |
Strong |
Sex: |
Not Specified |
Emaps: |
EMAPS:3582727 |
Pattern: |
Not Specified |
Stage: |
TS27 |
Assay Id: |
MGI:7327599 |
Age: |
postnatal day 0 |
|
|
Specimen Label: |
3b left |
Detected: |
true |
Specimen Num: |
1 |
|
•
•
•
•
•
|
GXD Expression |
|
Assay Type: |
In situ reporter (knock in) |
Annotation Date: |
2022-08-08 |
Strength: |
Strong |
Sex: |
Not Specified |
Emaps: |
EMAPS:3582727 |
Pattern: |
Not Specified |
Stage: |
TS27 |
Assay Id: |
MGI:7327599 |
Age: |
postnatal day 0 |
|
|
Specimen Label: |
3b right |
Detected: |
true |
Specimen Num: |
2 |
|
•
•
•
•
•
|
Publication |
First Author: |
Beyer AM |
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