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CLPTM1 (CLPTM1 Regulator Of GABA Type A Receptor Forward Trafficking) is a Protein Coding gene. Diseases associated with CLPTM1 include Cleft Lip and Cleft Lip/Palate-Ectodermal Dysplasia Syndrome. An important paralog of this gene is CLPTM1L.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005515 | protein binding | IPI | 21903422 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005887 | integral component of plasma membrane | TAS | 9828125 |
GO:0009897 | external side of plasma membrane | ISS | -- |
GO:0016020 | membrane | IEA,HDA | 19946888 |
GO:0016021 | integral component of membrane | IEA | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0007275 | multicellular organism development | TAS,IEA | -- |
GO:0030154 | cell differentiation | IEA | -- |
GO:0033081 | regulation of T cell differentiation in thymus | ISS | -- |
ExUns: | 1 | ^ | 2 | ^ | 3 | ^ | 4 | ^ | 5 | ^ | 6 | ^ | 7 | ^ | 8 | ^ | 9 | ^ | 10a | · | 10b | ^ | 11a | · | 11b | · | 11c | ^ | 12a | · | 12b | ^ | 13a | · | 13b | ^ | 14 | ^ | 15a | · | 15b | ^ | 16a | · | 16b | ^ | 17a | · | 17b | · | 17c | · |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||
SP2: | - | - | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||
SP3: | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||||
SP4: | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||||||
SP5: | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | |||||||||||||||||||||||||||||||||
SP6: | - | |||||||||||||||||||||||||||||||||||||||||||||||||||
SP7: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP8: | - | |||||||||||||||||||||||||||||||||||||||||||||||||||
SP9: |
ExUns: | 17d |
---|---|
SP1: | |
SP2: | |
SP3: | |
SP4: | |
SP5: | |
SP6: | |
SP7: | |
SP8: | |
SP9: |
This gene was present in the common ancestor of eukaryotes.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | CLPTM1 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | CLPTM1 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | CLPTM1 30 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Clptm1 30 17 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Clptm1 30 |
|
||
Oppossum (Monodelphis domestica) |
Mammalia | CLPTM1 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | CLPTM1 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | CLPTM1 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | clptm1 30 |
|
||
Str.753 30 |
|
||||
Zebrafish (Danio rerio) |
Actinopterygii | clptm1 30 31 |
|
OneToOne | |
sbcb102 30 |
|
||||
Rainbow Trout (Oncorhynchus mykiss) |
Actinopterygii | Omy.6632 30 |
|
||
African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP007926 30 |
|
||
Fruit Fly (Drosophila melanogaster) |
Insecta | CG3702 30 31 32 |
|
OneToOne | |
Worm (Caenorhabditis elegans) |
Secernentea | C36B7.6 30 31 32 |
|
OneToMany | |
R166.2 31 32 |
|
OneToMany | |||
Thale Cress (Arabidopsis thaliana) |
eudicotyledons | AT5G23575 30 |
|
||
Rice (Oryza sativa) |
Liliopsida | Os04g0441900 30 |
|
||
Os.18612 30 |
|
||||
Barley (Hordeum vulgare) |
Liliopsida | Hv.6282 30 |
|
||
Wheat (Triticum aestivum) |
Liliopsida | Ta.770 30 |
|
||
Corn (Zea mays) |
Liliopsida | Zm.3148 30 |
|
||
Sea Vase (Ciona intestinalis) |
Ascidiacea | Cin.3480 30 |
|
SNP ID | Clinical significance and condition | Chr 19 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
708251 | Benign: not provided | 44,974,474(+) | T/C | SYNONYMOUS_VARIANT | |
709303 | Benign: not provided | 44,962,025(+) | G/A | SYNONYMOUS_VARIANT,FIVE_PRIME_UTR_VARIANT | |
714889 | Benign: not provided | 44,977,430(+) | C/T | MISSENSE_VARIANT | |
716505 | Benign: not provided | 44,990,546(+) | C/T | SYNONYMOUS_VARIANT | |
717488 | Benign: not provided | 44,991,276(+) | C/T | SYNONYMOUS_VARIANT |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
dgv14e24 | CNV | loss | 17666407 |
dgv224e215 | CNV | deletion | 23714750 |
esv22789 | CNV | loss | 19812545 |
esv2656681 | CNV | deletion | 23128226 |
esv32608 | CNV | loss | 17666407 |
esv3644495 | CNV | loss | 21293372 |
esv3644496 | CNV | gain | 21293372 |
nsv1071535 | CNV | deletion | 25765185 |
nsv1117220 | CNV | tandem duplication | 24896259 |
nsv579864 | CNV | loss | 21841781 |
nsv579865 | CNV | loss | 21841781 |
nsv828562 | CNV | gain | 20364138 |
Disorder | Aliases | PubMed IDs |
---|---|---|
cleft lip |
|
|
cleft lip/palate-ectodermal dysplasia syndrome |
|
|
ogden syndrome |
|
|
cleft palate, isolated |
|
|
van der woude syndrome 1 |
|
|