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The protein encoded by this gene links endocytic vesicles to microtubules. This gene is highly expressed in Reed-Sternberg cells of Hodgkin disease. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011]
CLIP1 (CAP-Gly Domain Containing Linker Protein 1) is a Protein Coding gene. Diseases associated with CLIP1 include Autosomal Recessive Non-Syndromic Intellectual Disability and Perry Syndrome. Among its related pathways are Signaling by GPCR and RHO GTPases activate IQGAPs. Gene Ontology (GO) annotations related to this gene include nucleic acid binding and microtubule binding. An important paralog of this gene is CLIP2.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005515 | protein binding | IPI | 11940666 |
GO:0008017 | microtubule binding | IDA | 17889670 |
GO:0008270 | zinc ion binding | IDA | 17828275 |
GO:0015631 | tubulin binding | IDA | 17889670 |
GO:0042802 | identical protein binding | IPI | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000776 | kinetochore | TAS | 15928712 |
GO:0001726 | ruffle | IEA | -- |
GO:0005634 | nucleus | IBA | 21873635 |
GO:0005737 | cytoplasm | IBA | 21873635 |
GO:0005813 | centrosome | IDA | 21399614 |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Cell Cycle, Mitotic |
.83
|
.60
|
2 | Mitotic Metaphase and Anaphase |
.94
|
|
3 | Mitotic Prometaphase | ||
4 | Signaling by Rho GTPases | ||
5 | Cytoskeletal Signaling |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000278 | mitotic cell cycle | TAS | 15928712 |
GO:0001578 | microtubule bundle formation | IMP | 17889670 |
GO:0031116 | positive regulation of microtubule polymerization | IBA,IMP | 15262990 |
GO:0031122 | cytoplasmic microtubule organization | IBA | 21873635 |
ExUns: | 1 | ^ | 2 | ^ | 3 | ^ | 4 | ^ | 5a | · | 5b | ^ | 6a | · | 6b | ^ | 7 | ^ | 8 | ^ | 9 | ^ | 10 | ^ | 11a | · | 11b | · | 11c | ^ | 12 | ^ | 13 | ^ | 14 | ^ | 15a | · | 15b | ^ | 16a | · | 16b | ^ | 17a | · | 17b | ^ | 18 | ^ | 19 | ^ |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||
SP2: | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||||
SP3: | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||||||
SP4: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP5: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP6: | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||||
SP7: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP8: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP9: |
ExUns: | 20 | ^ | 21 | ^ | 22a | · | 22b | ^ | 23 | ^ | 24a | · | 24b | ^ | 25 | ^ | 26a | · | 26b | ^ | 27a | · | 27b | · | 27c | · | 27d |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | - | - | ||||||||||||||||||||||||
SP2: | - | - | - | ||||||||||||||||||||||||
SP3: | |||||||||||||||||||||||||||
SP4: | - | - | - | ||||||||||||||||||||||||
SP5: | |||||||||||||||||||||||||||
SP6: | |||||||||||||||||||||||||||
SP7: | |||||||||||||||||||||||||||
SP8: | |||||||||||||||||||||||||||
SP9: |
This gene was present in the common ancestor of animals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | CLIP1 30 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | -- 31 |
|
OneToMany | |
-- 31 |
|
OneToMany | |||
Dog (Canis familiaris) |
Mammalia | CLIP1 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | CLIP1 30 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Clip1 30 17 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | CLIP1 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | CLIP1 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | CLIP1 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | clip1 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | CLIP1 (2 of 2) 31 |
|
OneToMany | |
clip1a 30 31 |
|
OneToMany | |||
Fruit Fly (Drosophila melanogaster) |
Insecta | CLIP-190 31 |
|
OneToOne | |
Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
OneToOne |
SNP ID | Clinical significance and condition | Chr 12 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
839306 | Uncertain Significance: not provided | 122,355,294(-) |
G/A NM_002956.2(CLIP1):c.1024C>T (p.Arg342Cys) |
MISSENSE | |
978177 | Uncertain Significance: Global developmental delay | 122,273,074(-) |
T/C NM_002956.3(CLIP1):c.4085A>G (p.Lys1362Arg) |
MISSENSE | |
rs1012699618 | Likely Benign: not provided | 122,341,620(-) |
C/T NM_002956.2(CLIP1):c.1551G>A (p.Glu517=) |
SYNONYMOUS | |
rs115643125 | Benign: not provided | 122,361,061(-) |
C/T NM_002956.2(CLIP1):c.903G>A (p.Ala301=) |
SYNONYMOUS | |
rs115820623 | Benign: not provided | 122,377,740(-) |
C/T NM_002956.2(CLIP1):c.306G>A (p.Ser102=) |
SYNONYMOUS |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
dgv324e199 | CNV | deletion | 23128226 |
esv2672169 | CNV | deletion | 23128226 |
esv3630973 | CNV | gain | 21293372 |
esv3630974 | CNV | loss | 21293372 |
esv3630975 | CNV | loss | 21293372 |
nsv1138177 | CNV | deletion | 24896259 |
nsv1138178 | CNV | deletion | 24896259 |
nsv476982 | CNV | novel sequence insertion | 20440878 |
nsv973131 | CNV | duplication | 23825009 |
Disorder | Aliases | PubMed IDs |
---|---|---|
autosomal recessive non-syndromic intellectual disability |
|
|
perry syndrome |
|
|
lissencephaly |
|
|
neuronopathy, distal hereditary motor, type viib |
|
|
distal hereditary motor neuronopathy type 7 |
|
|