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TMEM67 [ciliary membrane]
Stable Identifier
R-HSA-5626667
Type
Protein [EntityWithAccessionedSequence]
Species
Homo sapiens
Compartment
ciliary membrane
Synonyms
MKS3, MECKELIN
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)
TMEM67 [ciliary membrane] (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)
TMEM67 [ciliary membrane] (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)
TMEM67 [ciliary membrane] (Homo sapiens)
Recruitment of transition zone proteins (Homo sapiens)
Tectonic-like complex [cytosol] (Homo sapiens)
TMEM67 [ciliary membrane] (Homo sapiens)
basal body:transition zone proteins [cytosol] (Homo sapiens)
Tectonic-like complex [cytosol] (Homo sapiens)
TMEM67 [ciliary membrane] (Homo sapiens)
External Reference Information
External Reference
UniProt:Q5HYA8 TMEM67
Gene Names
TMEM67, MKS3
Chain
signal peptide:1-36, chain:37-995
Reference Genes
BioGPS Gene:91147 TMEM67
COSMIC (genes):TMEM67 TMEM67
CTD Gene:91147 TMEM67
dbSNP Gene:91147 TMEM67
ENSEMBL:ENSG00000164953 TMEM67
HGNC:28396 TMEM67
KEGG:hsa:91147 TMEM67
Monarch:91147 TMEM67
NCBI Gene:91147 TMEM67
OMIM:609884 TMEM67
UCSC:Q5HYA8 TMEM67
Reference Transcript
RefSeq:NM_153704.5 TMEM67
RefSeq:NM_001142301.1 TMEM67
Other Identifiers
11731547_a_at
11731548_a_at
11731549_x_at
11748258_a_at
11763744_at
11763770_x_at
11763803_a_at
1552763_PM_at
1552763_at
1552765_PM_x_at
1552765_x_at
1563646_PM_a_at
1563646_a_at
1569377_3p_at
1569377_PM_at
1569377_at
1569411_3p_at
1569411_PM_at
1569411_at
17070878
232023_3p_at
232023_PM_at
232023_at
238229_PM_at
238229_at
3107243
3107244
3107245
3107246
3107247
3107248
3107249
3107250
3107251
3107252
3107253
3107254
3107258
3107259
3107260
3107261
3107262
3107263
3107264
3107265
3107266
3107267
3107268
3107269
3107270
3107271
3107272
3107275
3107276
3107277
3107278
3107279
3107280
3107281
3107282
3107283
3107284
3107285
3107286
3107287
3107288
3107291
3107293
3107294
3107295
3107296
3107297
3107298
3107299
3107300
3376773
3725938
74583_at
7896639
81120_at
8147313
91147
A_14_P135626
A_23_P429581
GE681626
GO:0005515
GO:0005737
GO:0005783
GO:0005789
GO:0005813
GO:0005815
GO:0005856
GO:0005886
GO:0005929
GO:0008092
GO:0010826
GO:0016020
GO:0030030
GO:0030163
GO:0030659
GO:0031005
GO:0035567
GO:0035869
GO:0036038
GO:0036503
GO:0043226
GO:0044782
GO:0051082
GO:0060170
GO:0060271
HMNXSV003044333
HMNXSV003045211
HMNXSV003046293
Hs.116240.0.A1_3p_at
Hs.130554.0.S1_3p_x_at
Hs2.130554.1.S1_3p_at
Hs2.130554.3.S1_3p_s_at
Hs2.378205.1.S1_3p_at
Hs2.378205.1.S1_3p_x_at
Hs2.382180.1.S1_3p_x_at
ILMN_1705049
ILMN_2054053
PH_hs_0040690
TC08000570.hg
TC08002016.hg
Participates
as a component of
Tectonic-like complex [cytosol] (Homo sapiens)
Inferred To
tmem67 [ciliary membrane]
(Xenopus tropicalis)
Tmem67 [ciliary membrane]
(Mus musculus)
Tmem67 [ciliary membrane]
(Rattus norvegicus)
TMEM67 [ciliary membrane]
(Bos taurus)
TMEM67 [ciliary membrane]
(Canis familiaris)
TMEM67 [ciliary membrane]
(Gallus gallus)
TMEM67 [ciliary membrane]
(Sus scrofa)
Cross References
ENSEMBL
ENST00000453321
,
ENSG00000164953
,
ENSP00000314488
,
ENSP00000389998
,
ENST00000323130
OpenTargets
ENSG00000164953
GeneCards
TMEM67
HPA
ENSG00000164953-TMEM67
PRO
Q5HYA8
Pharos - Targets
Q5HYA8
GlyGen
Q5HYA8
Orphanet
TMEM67
PDB
7FH1
Interactors (2)
Accession
#Entities
Entities
Confidence Score
Evidence (IntAct)
UniProt:P59665 DEFA1
9
DEFA1(1-94) [Golgi lumen]
(R-HSA-1467215)
DEFA1(20-94) [Golgi lumen]
(R-HSA-1467282)
DEFA1(66-94) [Golgi lumen]
(R-HSA-975663)
DEFA1(20-65) [Golgi lumen]
(R-HSA-8864970)
DEFA1(66-94) [extracellular region]
(R-HSA-1461998)
DEFA1(66-94) [azurophil granule lumen]
(R-HSA-1470038)
DEFA1(65-94) [extracellular region]
(R-HSA-1462022)
omega-N-(ADP-ribosyl)-L-arginine-DEFA1(65-94) [extracellular region]
(R-HSA-1972397)
DEFA1(65-94) [azurophil granule lumen]
(R-HSA-1470053)
0.527
2
UniProt:P26842 CD27
1
CD27 [plasma membrane]
(R-HSA-5666994)
0.527
3
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