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MKS1 [cytosol]
Stable Identifier
R-HSA-5610400
Type
Protein [EntityWithAccessionedSequence]
Species
Homo sapiens
Compartment
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:hsa:54903 MKS1
Monarch:54903 MKS1
NCBI Gene:54903 MKS1
OMIM:609883 MKS1
UCSC:Q9NXB0 MKS1
Reference Transcript
RefSeq:NM_001321268.1 MKS1
RefSeq:NM_017777.3 MKS1
RefSeq:NM_001321269.1 MKS1
RefSeq:NM_001165927.1 MKS1
RefSeq:XM_017024805.1 MKS1
Other Identifiers
11719309_a_at
11752661_a_at
11752662_x_at
1555820_PM_a_at
1555820_a_at
16847007
218630_PM_at
218630_at
3764198
3764200
3764201
3764202
3764203
3764206
3764207
3764208
3764209
3764210
3764211
3764212
3764213
3764214
3764215
3764216
3764217
3764218
3764219
3764220
3764221
3764222
3764223
3764224
3764225
3764226
3764227
3764228
3764229
3764231
3764233
3764234
3764236
3764238
49408_at
54903
55090_s_at
55092_at
8016909
A_24_P330796
A_33_P3404623
GE55452
GE889779
GO:0001843
GO:0003271
GO:0005515
GO:0005737
GO:0005813
GO:0005814
GO:0005815
GO:0005829
GO:0005856
GO:0005929
GO:0007368
GO:0008589
GO:0010669
GO:0016020
GO:0030030
GO:0035869
GO:0036038
GO:0036064
GO:0042733
GO:0043226
GO:0044458
GO:0044782
GO:0048706
GO:0048754
GO:0048856
GO:0060122
GO:0060271
GO:0060322
GO:0060411
GO:0060828
GO:0061009
GO:1905515
GO:1990403
GO:2000095
HMNXSV003025049
PH_hs_0024770
TC17001726.hg
g8923323_3p_s_at
Participates
as a component of
Tectonic-like complex [cytosol] (Homo sapiens)
as a member of
ciliary basal body regulators of Hh [cytosol] (Homo sapiens)
Inferred To
MKS1 [cytosol]
(Bos taurus)
MKS1 [cytosol]
(Canis familiaris)
MKS1 [cytosol]
(Gallus gallus)
MKS1 [cytosol]
(Sus scrofa)
mks1 [cytosol]
(Xenopus tropicalis)
Mks1 [cytosol]
(Drosophila melanogaster)
Mks1 [cytosol]
(Mus musculus)
Mks1 [cytosol]
(Rattus norvegicus)
Cross References
ENSEMBL
ENST00000393119
,
ENSP00000376827
,
ENSG00000011143
OpenTargets
ENSG00000011143
GeneCards
MKS1
HPA
ENSG00000011143-MKS1
PRO
Q9NXB0
Pharos - Targets
Q9NXB0
Orphanet
MKS1
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