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MKS1 [cytosol]
Stable Identifier
R-HSA-5610400
Type
Protein [EntityWithAccessionedSequence]
Species
Homo sapiens
Compartment
ciliary basal body
,
cytosol
GO Cellular Component
ciliary basal body
(0036064)
Locations in the PathwayBrowser
Expand all
Organelle biogenesis and maintenance (Homo sapiens)
Cilium Assembly (Homo sapiens)
Anchoring of the basal body to the plasma membrane (Homo sapiens)
CEP164 recruits RAB3IP-carrying Golgi-derived vesicles to the basal body (Homo sapiens)
basal body:transition zone proteins [cytosol] (Homo sapiens)
Tectonic-like complex [cytosol] (Homo sapiens)
MKS1 [cytosol] (Homo sapiens)
basal body:transition zone proteins:RAB3IP:RAB11A:GTP:Golgi-derived vesicle [cytosol] (Homo sapiens)
basal body:transition zone proteins [cytosol] (Homo sapiens)
Tectonic-like complex [cytosol] (Homo sapiens)
MKS1 [cytosol] (Homo sapiens)
RAB3IP stimulates nucleotide exchange on RAB8A (Homo sapiens)
basal body:transition zone proteins:RAB3IP:RAB11A:GTP:Golgi-derived vesicle [cytosol] (Homo sapiens)
basal body:transition zone proteins [cytosol] (Homo sapiens)
Tectonic-like complex [cytosol] (Homo sapiens)
MKS1 [cytosol] (Homo sapiens)
Recruitment of transition zone proteins (Homo sapiens)
Tectonic-like complex [cytosol] (Homo sapiens)
MKS1 [cytosol] (Homo sapiens)
basal body:transition zone proteins [cytosol] (Homo sapiens)
Tectonic-like complex [cytosol] (Homo sapiens)
MKS1 [cytosol] (Homo sapiens)
Signal Transduction (Homo sapiens)
Signaling by Hedgehog (Homo sapiens)
Hedgehog 'off' state (Homo sapiens)
The intraflagellar transport A (IFT-A) complex is required for the transit of GLI:SUFU complexes to the ciliary base (Homo sapiens)
ciliary basal body regulators of Hh [cytosol] (Homo sapiens)
MKS1 [cytosol] (Homo sapiens)
The intraflagellar transport B (IFT-B) complex is required for the transit of GLI:SUFU complexes to the ciliary tip (Homo sapiens)
ciliary basal body regulators of Hh [cytosol] (Homo sapiens)
MKS1 [cytosol] (Homo sapiens)
External Reference Information
External Reference
UniProt:Q9NXB0 MKS1
Gene Names
MKS1
Chain
chain:1-559
Reference Genes
BioGPS Gene:54903 MKS1
COSMIC (genes):MKS1 MKS1
CTD Gene:54903 MKS1
dbSNP Gene:54903 MKS1
ENSEMBL:ENSG00000011143 MKS1
HGNC:7121 MKS1
KEGG Gene (Homo sapiens):54903 MKS1
Monarch:54903 MKS1
NCBI Gene:54903 MKS1
OMIM:609883 MKS1
UCSC:Q9NXB0 MKS1
Reference Transcript
RefSeq:NM_017777.3 MKS1
RefSeq:NM_001321268.1 MKS1
RefSeq:NM_001321269.1 MKS1
RefSeq:XM_017024805.1 MKS1
RefSeq:NM_001165927.1 MKS1
Other Identifiers
0000380239
11719309_a_at
11752661_a_at
11752662_x_at
1555820_a_at
16847007
218630_at
3764198
3764200
3764201
3764202
3764203
3764206
3764207
3764208
3764212
3764213
3764215
3764217
3764218
3764219
3764220
3764221
3764223
3764225
3764228
3764229
3764231
3764233
3764234
3764236
3764238
49408_at
54903
55090_s_at
8016909
A_24_P330796
A_33_P3404623
GE55452
GO:0001843
GO:0003271
GO:0003674
GO:0005515
GO:0005575
GO:0005622
GO:0005737
GO:0005813
GO:0005814
GO:0005815
GO:0005829
GO:0005856
GO:0005929
GO:0007165
GO:0007267
GO:0007368
GO:0008150
GO:0008283
GO:0008589
GO:0009790
GO:0010669
GO:0016020
GO:0022607
GO:0030030
GO:0030154
GO:0032991
GO:0035869
GO:0036038
GO:0036064
GO:0042592
GO:0042733
GO:0042995
GO:0043226
GO:0044458
GO:0048646
GO:0048706
GO:0048754
GO:0048856
GO:0060122
GO:0060271
GO:0060322
GO:0060411
GO:0060828
GO:0061009
GO:0097711
GO:1901620
GO:1905515
GO:1990403
GO:2000095
ILMN_1738949
PH_hs_0024770
TC17001726.hg
g8923323_3p_s_at
Participant Of
hasComponent
Tectonic-like complex [cytosol]
hasMember
ciliary basal body regulators of Hh [cytosol]
Inferred To
MKS1 [cytosol] (Bos taurus)
MKS1 [cytosol] (Canis familiaris)
MKS1 [cytosol] (Gallus gallus)
MKS1 [cytosol] (Sus scrofa)
MKS1 [cytosol] (Xenopus tropicalis)
mks1 [cytosol] (Danio rerio)
Mks1 [cytosol] (Drosophila melanogaster)
Mks1 [cytosol] (Mus musculus)
Mks1 [cytosol] (Rattus norvegicus)
Cross References
RefSeq
NP_060247.2
,
NP_001308198.1
,
NP_001159399.1
,
XP_016880294.1
,
NP_001308197.1
OpenTargets
ENSG00000011143
HPA
ENSG00000011143-MKS1
GeneCards
Q9NXB0
Ensembl
ENST00000393119
,
ENST00000537529
,
ENSP00000376827
,
ENSP00000442096
,
ENSG00000011143
PRO
Q9NXB0
Orphanet
16405
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