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This gene is a member of the clathrin heavy chain family and encodes a major protein of the polyhedral coat of coated pits and vesicles. Chromosomal aberrations involving this gene are associated with meningioma, DiGeorge syndrome, and velo-cardio-facial syndrome. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2009]
CLTCL1 (Clathrin Heavy Chain Like 1) is a Protein Coding gene. Diseases associated with CLTCL1 include Congenital Insensitivity To Pain With Severe Intellectual Disability and Chromosome 22Q11.2 Duplication Syndrome. Among its related pathways are Lysosome and Clathrin-mediated endocytosis. Gene Ontology (GO) annotations related to this gene include binding and structural molecule activity. An important paralog of this gene is CLTC.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005198 | structural molecule activity | IEA | -- |
GO:0005515 | protein binding | IEA,IPI | 19478182 |
GO:0032051 | clathrin light chain binding | IEA,IBA | 21873635 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005769 | NOT early endosome | IDA | 20065094 |
GO:0005770 | late endosome | IDA | 20065094 |
GO:0005802 | trans-Golgi network | IDA | 19509056 |
GO:0005819 | spindle | IDA | 19509056 |
GO:0005829 | cytosol | TAS | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Gap junction trafficking | ||
2 | Synaptic vesicle cycle | ||
3 | Developmental Biology |
.51
|
|
4 | Clathrin-mediated endocytosis | ||
5 | EPH-Ephrin signaling |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000278 | NOT mitotic cell cycle | IDA | 20065094 |
GO:0006886 | intracellular protein transport | IEA | -- |
GO:0006898 | receptor-mediated endocytosis | TAS,IDA | 19509056 |
GO:0009653 | anatomical structure morphogenesis | TAS | 8733128 |
GO:0016192 | vesicle-mediated transport | IEA | -- |
ExUns: | 1 | ^ | 2 | ^ | 3 | ^ | 4a | · | 4b | ^ | 5 | ^ | 6 | ^ | 7 | ^ | 8 | ^ | 9 | ^ | 10 | ^ | 11a | · | 11b | ^ | 12a | · | 12b | ^ | 13 | ^ | 14 | ^ | 15 | ^ | 16 | ^ | 17 | ^ | 18 | ^ | 19 | ^ | 20 | ^ | 21 | ^ | 22 | ^ | 23 | ^ |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||||
SP2: | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||||
SP3: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP4: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP5: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP6: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP7: |
ExUns: | 24 | ^ | 25 | ^ | 26 | ^ | 27a | · | 27b | ^ | 28 | ^ | 29a | · | 29b | ^ | 30 | ^ | 31a | · | 31b | ^ | 32a | · | 32b | ^ | 33 | ^ | 34a | · | 34b |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | - | - | ||||||||||||||||||||||||||||
SP2: | - | - | - | - | |||||||||||||||||||||||||||
SP3: | - | ||||||||||||||||||||||||||||||
SP4: | |||||||||||||||||||||||||||||||
SP5: | |||||||||||||||||||||||||||||||
SP6: | |||||||||||||||||||||||||||||||
SP7: |
This gene was present in the common ancestor of eukaryotes.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | CLTCL1 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | CLTCL1 30 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | CLTCL1 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | CLTCL1 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | CLTCL1 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | LOC100492311 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | CLTCL1 (2 of 2) 31 |
|
OneToMany | |
CLTCL1 (1 of 2) 31 |
|
OneToMany | |||
Rainbow Trout (Oncorhynchus mykiss) |
Actinopterygii | Omy.619 30 |
|
||
Fruit Fly (Drosophila melanogaster) |
Insecta | Chc 31 32 |
|
OneToMany | |
Worm (Caenorhabditis elegans) |
Secernentea | chc-1 31 |
|
OneToMany | |
T20G5.1 32 |
|
|
|||
Baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | CHC1 31 |
|
OneToMany | |
Alicante grape (Vitis vinifera) |
eudicotyledons | Vvi.5152 30 |
|
||
Corn (Zea mays) |
Liliopsida | Zm.12119 30 |
|
||
Sea Squirt (Ciona savignyi) |
Ascidiacea | CSA.1583 31 |
|
OneToMany |
SNP ID | Clinical significance and condition | Chr 22 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
708745 | Likely Benign: not provided | 19,234,536(-) | G/A | SYNONYMOUS_VARIANT | |
716364 | Benign: not provided | 19,183,443(-) | C/G | MISSENSE_VARIANT | |
716365 | Benign: not provided | 19,232,468(-) | A/G | INTRON_VARIANT | |
716366 | Benign: not provided | 19,232,542(-) | C/T | SYNONYMOUS_VARIANT | |
718483 | Likely Benign: not provided | 19,183,561(-) | C/CT | FRAMESHIFT_VARIANT |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
esv1007063 | CNV | deletion | 20482838 |
esv2532331 | CNV | insertion | 19546169 |
esv2664681 | CNV | deletion | 23128226 |
esv2672843 | CNV | deletion | 23128226 |
esv2676900 | CNV | deletion | 23128226 |
esv3307775 | CNV | mobile element insertion | 20981092 |
esv3308015 | CNV | mobile element insertion | 20981092 |
esv3308782 | CNV | mobile element insertion | 20981092 |
esv3387591 | CNV | insertion | 20981092 |
esv3575418 | CNV | gain | 25503493 |
esv3647265 | CNV | loss | 21293372 |
esv3647268 | CNV | loss | 21293372 |
esv3647269 | CNV | loss | 21293372 |
nsv1116942 | CNV | deletion | 24896259 |
nsv1125751 | CNV | tandem duplication | 24896259 |
nsv1143025 | CNV | tandem duplication | 24896259 |
nsv459398 | CNV | loss | 19166990 |
nsv513584 | CNV | insertion | 21212237 |
nsv588213 | CNV | gain | 21841781 |
nsv588216 | CNV | gain | 21841781 |
nsv588217 | CNV | loss | 21841781 |
nsv828933 | CNV | loss | 20364138 |
nsv834122 | CNV | loss | 17160897 |
nsv834123 | CNV | loss | 17160897 |
nsv834124 | CNV | loss | 17160897 |
nsv834125 | CNV | loss | 17160897 |
nsv979633 | CNV | duplication | 23825009 |
Disorder | Aliases | PubMed IDs |
---|---|---|
congenital insensitivity to pain with severe intellectual disability |
|
|
chromosome 22q11.2 duplication syndrome |
|
|
digeorge syndrome |
|
|
ichthyosis, congenital, autosomal recessive 9 |
|
|
crouzon syndrome with acanthosis nigricans |
|
|