Mkks (McKusick-Kaufman syndrome) - Rat Genome Database

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Gene: Mkks (McKusick-Kaufman syndrome) Mus musculus
Analyze
Symbol: Mkks
Name: McKusick-Kaufman syndrome
RGD ID: 1318802
MGI Page MGI
Description: Predicted to enable RNA polymerase II-specific DNA-binding transcription factor binding activity. Involved in several processes, including fat cell differentiation; negative regulation of appetite by leptin-mediated signaling pathway; and regulation of cilium beat frequency involved in ciliary motility. Acts upstream of or within several processes, including blood vessel diameter maintenance; brain development; and regulation of actin filament organization. Located in kinociliary basal body and motile cilium. Is expressed in several structures, including face; ganglia; limb; mesenchyme derived from splanchnopleure; and sensory organ. Used to study Bardet-Biedl syndrome 6 and obesity. Human ortholog(s) of this gene implicated in Bardet-Biedl syndrome; Bardet-Biedl syndrome 6; McKusick-Kaufman syndrome; congenital heart disease; and obesity. Orthologous to human MKKS (MKKS centrosomal shuttling protein).
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: 1300013E18Rik; AI463362; AI957237; Bbs; Bbs6; McKusick-Kaufman syndrome protein; McKusick-Kaufman/Bardet-Biedl syndromes putative chaperonin; MGC143766; molecular chaperone MKKS; protein Bbs6 homolog
RGD Orthologs
Human
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Latest Assembly: GRCm39 - Mouse Genome Assembly GRCm39
Position:
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm392136,715,700 - 136,733,422 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl2136,715,700 - 136,733,309 (-)EnsemblGRCm39 Ensembl
GRCm382136,873,780 - 136,891,406 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl2136,873,780 - 136,891,389 (-)EnsemblGRCm38mm10GRCm38
MGSCv372136,699,516 - 136,717,142 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv362136,565,505 - 136,582,619 (-)NCBIMGSCv36mm8
Celera2138,065,345 - 138,082,981 (-)NCBICelera
Cytogenetic Map2F3NCBI
cM Map267.64NCBI
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component
centrosome  (IEA,ISO)
ciliary basal body  (IDA)
cytoplasm  (IBA,ISO,ISS)
cytoskeleton  (IEA)
cytosol  (IEA)
kinociliary basal body  (IBA,IDA)
motile cilium  (IMP)
nucleus  (IBA,ISO)

Molecular Function

References

References - curated
# Reference Title Reference Citation
1. Variation of the McKusick-Kaufman gene and studies of relationships with common forms of obesity. Andersen KL, etal., J Clin Endocrinol Metab. 2005 Jan;90(1):225-30. Epub 2004 Oct 13.
2. Mutations in MKKS cause obesity, retinal dystrophy and renal malformations associated with Bardet-Biedl syndrome. Katsanis N, etal., Nat Genet. 2000 Sep;26(1):67-70.
3. Functional annotation of a full-length mouse cDNA collection. Kawai J, etal., Nature. 2001 Feb 8;409(6821):685-90.
4. MGDs mouse GO annotations MGD data from the GO Consortium
5. MGD IEA MGD IEA
6. Analysis of the mouse transcriptome based on functional annotation of 60,770 full-length cDNAs. Okazaki Y, etal., Nature. 2002 Dec 5;420(6915):563-73.
7. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
8. Mouse MP Annotation Import Pipeline RGD automated import pipeline
9. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
10. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
11. Mutation analysis of the MKKS gene in McKusick-Kaufman syndrome and selected Bardet-Biedl syndrome patients. Slavotinek AM, etal., Hum Genet. 2002 Jun;110(6):561-7. Epub 2002 May 9.
Additional References at PubMed
PMID:8889548   PMID:10349636   PMID:10601104   PMID:10802661   PMID:11042159   PMID:11076861   PMID:12477932   PMID:12524598   PMID:14610273   PMID:15731008   PMID:15772095   PMID:16141072  
PMID:16141073   PMID:16170314   PMID:16602821   PMID:16888132   PMID:17379567   PMID:18032602   PMID:18094050   PMID:18299575   PMID:18317593   PMID:18391535   PMID:18443298   PMID:18799693  
PMID:18973680   PMID:19150989   PMID:19195025   PMID:20080638   PMID:20852044   PMID:21071598   PMID:21106857   PMID:21267068   PMID:21873635   PMID:22446187   PMID:22500027   PMID:23671934  
PMID:23716571   PMID:26103456   PMID:27340223   PMID:30446775   PMID:32290105   PMID:34093381  


Genomics

Comparative Map Data
Mkks
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm392136,715,700 - 136,733,422 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl2136,715,700 - 136,733,309 (-)EnsemblGRCm39 Ensembl
GRCm382136,873,780 - 136,891,406 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl2136,873,780 - 136,891,389 (-)EnsemblGRCm38mm10GRCm38
MGSCv372136,699,516 - 136,717,142 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv362136,565,505 - 136,582,619 (-)NCBIMGSCv36mm8
Celera2138,065,345 - 138,082,981 (-)NCBICelera
Cytogenetic Map2F3NCBI
cM Map267.64NCBI
MKKS
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh382010,401,009 - 10,434,222 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl2010,401,009 - 10,434,222 (-)EnsemblGRCh38hg38GRCh38
GRCh372010,381,657 - 10,414,870 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 362010,333,832 - 10,362,866 (-)NCBINCBI36Build 36hg18NCBI36
Build 342010,333,832 - 10,362,866NCBI
Celera2010,455,827 - 10,484,860 (-)NCBICelera
Cytogenetic Map20p12.2NCBI
HuRef2010,337,201 - 10,366,656 (-)NCBIHuRef
CHM1_12010,385,992 - 10,415,443 (-)NCBICHM1_1
T2T-CHM13v2.02010,444,020 - 10,477,226 (-)NCBIT2T-CHM13v2.0
Mkks
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr83144,654,563 - 144,672,831 (-)NCBIGRCr8
mRatBN7.23124,201,877 - 124,221,142 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl3124,201,877 - 124,220,162 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx3128,088,345 - 128,106,518 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.03136,665,331 - 136,683,502 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.03134,350,175 - 134,368,340 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.03129,866,542 - 129,885,213 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl3129,866,545 - 129,884,810 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.03136,347,547 - 136,365,815 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.43124,975,099 - 124,993,345 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.13124,880,674 - 124,898,918 (-)NCBI
Celera3122,920,784 - 122,939,041 (-)NCBICelera
Cytogenetic Map3q36NCBI
Mkks
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495541520,292,663 - 20,300,797 (-)EnsemblChiLan1.0
ChiLan1.0NW_00495541520,292,311 - 20,315,850 (-)NCBIChiLan1.0ChiLan1.0
MKKS
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v22111,276,201 - 11,284,953 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan12011,268,851 - 11,281,370 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v02010,346,252 - 10,380,180 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.12010,351,246 - 10,380,503 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl2010,351,309 - 10,366,863 (-)Ensemblpanpan1.1panPan2
MKKS
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.12411,887,504 - 11,914,055 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl2411,898,236 - 11,913,740 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha2411,706,600 - 11,733,151 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.02412,298,493 - 12,325,072 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl2412,298,503 - 12,325,070 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.12411,905,962 - 11,932,517 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.02412,005,123 - 12,031,666 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.02412,348,068 - 12,374,624 (+)NCBIUU_Cfam_GSD_1.0
Mkks
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024408640160,657,713 - 160,683,085 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049364859,088,963 - 9,115,175 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049364859,089,118 - 9,114,396 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
MKKS
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1719,341,636 - 19,362,871 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11719,341,024 - 19,363,007 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21721,817,124 - 21,839,355 (-)NCBISscrofa10.2Sscrofa10.2susScr3
MKKS
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1227,728,295 - 27,757,569 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl227,736,537 - 27,757,237 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366607116,818,364 - 16,851,748 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Mkks
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462474111,425,368 - 11,435,706 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462474111,323,935 - 11,447,669 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in Mkks
472 total Variants
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:458
Count of miRNA genes:237
Interacting mature miRNAs:256
Transcripts:ENSMUST00000028730, ENSMUST00000110089, ENSMUST00000144275
Prediction methods:Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.


QTLs in Region (GRCm39)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
1301907Rends_mrenal disease susceptibility (mouse)Not determined2135699221169699361Mouse
1301905Lgth2_mbody length 2 (mouse)Not determined2111173704145173821Mouse
1302033Nsv1_mNeuroadapted Sindbis viral RNA level 1 (mouse)Not determined2111623386145623526Mouse
13824983Vclq1_mcurvilinear velocity QTL 1 (mouse)261830344136841920Mouse
11039520Ltpr2h_mLeishmania tropica response 2h (mouse)2112212746146213005Mouse
11039521Ltpr2g_mLeishmania tropica response 2g (mouse)2115212857149212994Mouse
12910799Pwgrq2_mpre-weaning growth rate QTL 2 (mouse)2118589253160611165Mouse
1302174Dssc2_mdextran sodium sulfate induced colitis QTL2 (mouse)Not determined224224632148700377Mouse
12910795Pwbwq5_mpost-weaning body weight QTL 5 (mouse)2118589253160611165Mouse
27226761Feml18_mfemur length 18, 16 week (mouse)294230345154241920Mouse
12910812Pwgrq1_mpre-weaning growth rate QTL 1 (mouse)2118589253160611165Mouse
12910814Pwbwq1_mpre-weaning body weight QTL 1 (mouse)2118589253160611165Mouse
4141854T2dm2sa_mtype 2 diabetes mellitus 2 in SMXA RI mice (mouse)Not determined229307947148374934Mouse
10045885Cplaq15_mcircadian period of locomotor activity 15 (mouse)Not determined2110916118154354667Mouse
1300793Pcfm2_mperiosteal circumference and femur length 2 (mouse)Not determined2111173704145173821Mouse
10054066Bwq9_mbody weight QTL 9 (mouse)Not determined2135699221169699361Mouse
10412082Hylaq1_mHyperlocomotor activity related QTL 1 (mouse)Not determined284013198148667470Mouse
1301822Pgia2_mproteoglycan induced arthritis 2 (mouse)Not determined2123937311157937424Mouse
10043956Gnf5_mgrowth and fatness 5 (mouse)Not determined2135699221169699361Mouse
5491197Mobq5_mmultigenic obesity QTL 5 (mouse)Not determined265269746162518926Mouse
5491196Mobq6_mmultigenic obesity QTL 6 (mouse)Not determined285724269180896594Mouse
1301031Bdln3_mbody length 3 (mouse)Not determined2127664019161664118Mouse
11341717Rvfs1_mRift Valley fever susceptibility 1 (mouse)2135432544173449616Mouse
4141703Chlq13_mcirculating hormone level QTL 13 (mouse)Not determined2135699221169699361Mouse
27226788Feml13_mfemur length 13, 10 week (mouse)2102630345159941920Mouse
1301295Prdt1_mprion disease incubation time 1 (mouse)Not determined2116077623150077741Mouse
1301294Hrtfm5_mheart failure modifier 5 (mouse)Not determined2122883015156883131Mouse
11038696Ltpr2f_mLeishmania tropica response 2f (mouse)2115212857149212994Mouse
1301201Chab1_mcholesterol absorption 1 (mouse)Not determined2111551028145551163Mouse
11038699Ltpr2b_mLeishmania tropica response 2b (mouse)2112212746146213005Mouse
11038700Ltpr2a_mLeishmania tropica response 2a (mouse)2112212746146213005Mouse
11038702Ltpr2_mLeishmania tropica response 2 (mouse)2103095716167212356Mouse
1301087Bbaa15_mB.burgdorferi-associated arthritis 15 (mouse)Not determined2110489658144489807Mouse
1301825Pbrgcsf1_mperipheral blood stem cell response to granulocyte colony stimulating factor 1 (mouse)Not determined2106233580140233729Mouse
1558990Skmw9_mskeletal muscle weight 9 (mouse)Not determined2111173704145173821Mouse
1301066Otx2m2_morthodenticle homolog 2 (Drosophila) modifier 2 (mouse)Not determined2123231973148700377Mouse
1301961Bts1_mbladder tumor susceptibility 1 (mouse)Not determined2132024159166024330Mouse
4141155Plast2b_mplasma plant sterol 2b (mouse)Not determined284013198148522175Mouse
1301618Bglu1_mblood glucose level 1 (mouse)Not determined2117942930174324863Mouse
27226749Femd10_mfemur midshaft diameter 10, 16 week (mouse)2124441920168241920Mouse
1301755Hrq1_mheart rate quantitative locus 1 (mouse)Not determined2111173704145173821Mouse
13207586Mwmlpt2_mMorris water maze latency to platform, training, 2 (mouse)2131616184139216184Mouse
1302143Bwq5_mbody weight (mouse)Not determined2127664019161664118Mouse
12880427V25Dq3_mvitamin D inactive form serum level QTL 3 (mouse)2129341920163341920Mouse
13207590Mwmlpa2_mMorris water maze latency to platform, all, 2 (mouse)2131616184139616184Mouse
1301344Lith1_mlithogenic gene 1 (mouse)Not determined245347635145312647Mouse
1558881Ses7_msalmonella enteritidis susceptibility 7 (mouse)Not determined2116306330150306474Mouse
11049566Lmr28e_mleishmaniasis resistance 28e (mouse)2133144911167145058Mouse
11049567Lmr28f_mleishmaniasis resistance 28f (mouse)2133144911167145058Mouse
10043875Bw25_mbody weight QTL 25 (mouse)Not determined2107255676141255676Mouse
1300712El2_mepilepsy 2 (mouse)Not determined2122207146142532135Mouse

Markers in Region
AI463362  
Mouse AssemblyChrPosition (strand)SourceJBrowse
GRCm382136,885,472 - 136,885,597UniSTSGRCm38
MGSCv372136,711,208 - 136,711,333UniSTSGRCm37
Celera2138,077,047 - 138,077,172UniSTS
Cytogenetic Map2F3UniSTS
Whitehead/MRC_RH21659.29UniSTS
AI957237  
Mouse AssemblyChrPosition (strand)SourceJBrowse
GRCm382136,873,902 - 136,873,986UniSTSGRCm38
MGSCv372136,699,638 - 136,699,722UniSTSGRCm37
Celera2138,065,467 - 138,065,551UniSTS
Cytogenetic Map2F3UniSTS
Whitehead/MRC_RH21659.29UniSTS
RH137166  
Mouse AssemblyChrPosition (strand)SourceJBrowse
GRCm382136,881,349 - 136,881,536UniSTSGRCm38
MGSCv372136,707,085 - 136,707,272UniSTSGRCm37
Celera2138,072,924 - 138,073,111UniSTS
Cytogenetic Map2F3UniSTS
MARC_17187-17188:1021314368:3  
Mouse AssemblyChrPosition (strand)SourceJBrowse
GRCm382136,880,497 - 136,880,956UniSTSGRCm38
MGSCv372136,706,233 - 136,706,692UniSTSGRCm37
Celera2138,072,070 - 138,072,529UniSTS
Cytogenetic Map2F3UniSTS
Mkks  
Mouse AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map2F3UniSTS
cM Map2 UniSTS


Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001141946 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001286981 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001286983 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_021527 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_036162437 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_036162438 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AF254074 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AI662260 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK004987 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK008160 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK008406 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK032528 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK032554 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL731706 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC024359 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC058174 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC080765 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC100336 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC117835 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC117836 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BY735964 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH466519 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CJ157733 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENSMUST00000028730   ⟹   ENSMUSP00000028730
Type: CODING
Position:
Mouse AssemblyChrPosition (strand)Source
GRCm39 Ensembl2136,715,700 - 136,733,302 (-)Ensembl
GRCm38.p6 Ensembl2136,873,780 - 136,891,382 (-)Ensembl
Ensembl Acc Id: ENSMUST00000110089   ⟹   ENSMUSP00000105716
Type: CODING
Position:
Mouse AssemblyChrPosition (strand)Source
GRCm39 Ensembl2136,715,700 - 136,733,309 (-)Ensembl
GRCm38.p6 Ensembl2136,873,780 - 136,891,389 (-)Ensembl
Ensembl Acc Id: ENSMUST00000144275
Type: CODING
Position:
Mouse AssemblyChrPosition (strand)Source
GRCm39 Ensembl2136,723,139 - 136,733,074 (-)Ensembl
GRCm38.p6 Ensembl2136,881,219 - 136,891,154 (-)Ensembl
RefSeq Acc Id: NM_001141946   ⟹   NP_001135418
RefSeq Status: REVIEWED
Type: CODING
Position:
Mouse AssemblyChrPosition (strand)Source
GRCm392136,715,700 - 136,733,326 (-)NCBI
GRCm382136,873,780 - 136,891,406 (-)NCBI
MGSCv372136,699,516 - 136,717,142 (-)RGD
Celera2138,065,345 - 138,082,981 (-)RGD
cM Map2 ENTREZGENE
Sequence:
RefSeq Acc Id: NM_001286981   ⟹   NP_001273910
RefSeq Status: REVIEWED
Type: CODING
Position:
Mouse AssemblyChrPosition (strand)Source
GRCm392136,715,700 - 136,733,326 (-)NCBI
GRCm382136,873,780 - 136,891,406 (-)NCBI
Celera2138,065,345 - 138,082,981 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001286983   ⟹   NP_001273912
RefSeq Status: REVIEWED
Type: CODING
Position:
Mouse AssemblyChrPosition (strand)Source
GRCm392136,715,700 - 136,733,326 (-)NCBI
GRCm382136,873,780 - 136,891,406 (-)NCBI
Celera2138,065,345 - 138,082,981 (-)NCBI
Sequence:
RefSeq Acc Id: NM_021527   ⟹   NP_067502
RefSeq Status: REVIEWED
Type: CODING
Position:
Mouse AssemblyChrPosition (strand)Source
GRCm392136,715,700 - 136,733,326 (-)NCBI
GRCm382136,873,780 - 136,891,406 (-)NCBI
MGSCv372136,699,516 - 136,717,142 (-)RGD
Celera2138,065,345 - 138,082,981 (-)RGD
cM Map2 ENTREZGENE
Sequence:
RefSeq Acc Id: XM_036162437   ⟹   XP_036018330
Type: CODING
Position:
Mouse AssemblyChrPosition (strand)Source
GRCm392136,715,700 - 136,733,273 (-)NCBI
Sequence:
RefSeq Acc Id: XM_036162438   ⟹   XP_036018331
Type: CODING
Position:
Mouse AssemblyChrPosition (strand)Source
GRCm392136,715,700 - 136,733,422 (-)NCBI
Sequence:
RefSeq Acc Id: NP_067502   ⟸   NM_021527
- Peptide Label: isoform 1
- UniProtKB: Q8BGQ3 (UniProtKB/Swiss-Prot),   Q9JI70 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001135418   ⟸   NM_001141946
- Peptide Label: isoform 1
- UniProtKB: Q8BGQ3 (UniProtKB/Swiss-Prot),   Q9JI70 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001273912   ⟸   NM_001286983
- Peptide Label: isoform 3
- Sequence:
RefSeq Acc Id: NP_001273910   ⟸   NM_001286981
- Peptide Label: isoform 2
- UniProtKB: Q9DBF3 (UniProtKB/TrEMBL)
- Sequence:
Ensembl Acc Id: ENSMUSP00000105716   ⟸   ENSMUST00000110089
Ensembl Acc Id: ENSMUSP00000028730   ⟸   ENSMUST00000028730
RefSeq Acc Id: XP_036018331   ⟸   XM_036162438
- Peptide Label: isoform X1
- UniProtKB: Q9JI70 (UniProtKB/Swiss-Prot),   Q8BGQ3 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_036018330   ⟸   XM_036162437
- Peptide Label: isoform X1
- UniProtKB: Q9JI70 (UniProtKB/Swiss-Prot),   Q8BGQ3 (UniProtKB/Swiss-Prot)

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q9JI70-F1-model_v2 AlphaFold Q9JI70 1-570 view protein structure

Promoters
RGD ID:6831836
Promoter ID:MM_KWN:31930
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:Brain,   Kidney,   Liver
Transcripts:ENSMUST00000116405
Position:
Mouse AssemblyChrPosition (strand)Source
MGSCv362136,706,021 - 136,706,777 (-)MPROMDB
RGD ID:6831835
Promoter ID:MM_KWN:31931
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:3T3L1_Day1,   3T3L1_Day2,   3T3L1_Day3,   3T3L1_Day6,   ES_Cell,   Kidney,   Lung
Transcripts:ENSMUST00000028730,   ENSMUST00000110089,   OTTMUST00000036954,   UC008MOR.1,   UC008MOS.1
Position:
Mouse AssemblyChrPosition (strand)Source
MGSCv362136,716,801 - 136,717,882 (-)MPROMDB
RGD ID:6878908
Promoter ID:EPDNEW_M2905
Type:initiation region
Name:Mkks_2
Description:Mus musculus McKusick-Kaufman syndrome , transcript variant 3,mRNA.
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_M2906  
Experiment Methods:Single-end sequencing.
Position:
Mouse AssemblyChrPosition (strand)Source
GRCm382136,891,167 - 136,891,227EPDNEW
RGD ID:6878910
Promoter ID:EPDNEW_M2906
Type:multiple initiation site
Name:Mkks_1
Description:Mus musculus McKusick-Kaufman syndrome , transcript variant 3,mRNA.
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_M2905  
Experiment Methods:Single-end sequencing.
Position:
Mouse AssemblyChrPosition (strand)Source
GRCm382136,891,406 - 136,891,466EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene MGI:1891836 AgrOrtholog
Ensembl Genes ENSMUSG00000027274 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENSMUST00000028730 ENTREZGENE
  ENSMUST00000028730.13 UniProtKB/Swiss-Prot
  ENSMUST00000110089 ENTREZGENE
  ENSMUST00000110089.9 UniProtKB/Swiss-Prot
Gene3D-CATH 1.10.560.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  3.30.260.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  3.50.7.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
InterPro Cpn60/TCP-1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  GroEL-like_apical_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  GROEL-like_equatorial_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  MKKS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TCP-1-like_intermed_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report mmu:59030 UniProtKB/Swiss-Prot
MGD MGI:1891836 ENTREZGENE
NCBI Gene 59030 ENTREZGENE
PANTHER PTHR46787 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SYNDROMES PUTATIVE CHAPERONIN-RELATED UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Cpn60_TCP1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PhenoGen Mkks PhenoGen
Superfamily-SCOP SSF48592 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF52029 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt MKKS_MOUSE UniProtKB/Swiss-Prot
  Q8BGQ3 ENTREZGENE
  Q8K3C1_MOUSE UniProtKB/TrEMBL
  Q9DBF3 ENTREZGENE, UniProtKB/TrEMBL
  Q9JI70 ENTREZGENE
UniProt Secondary Q8BGQ3 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2012-07-17 Mkks  McKusick-Kaufman syndrome  Mkks  McKusick-Kaufman syndrome protein  Symbol and/or name change 5135510 APPROVED