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Hook proteins are cytosolic coiled-coil proteins that contain conserved N-terminal domains, which attach to microtubules, and more divergent C-terminal domains, which mediate binding to organelles. The Drosophila Hook protein is a component of the endocytic compartment.[supplied by OMIM, Apr 2004]
HOOK3 (Hook Microtubule Tethering Protein 3) is a Protein Coding gene. Diseases associated with HOOK3 include Small Intestine Neuroendocrine Neoplasm and Small Intestine Benign Neoplasm. Gene Ontology (GO) annotations related to this gene include identical protein binding and microtubule binding. An important paralog of this gene is HOOK1.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005515 | protein binding | IPI | 17237231 |
GO:0008017 | microtubule binding | IBA,IDA | 11238449 |
GO:0034452 | dynactin binding | IDA | 27482052 |
GO:0042802 | identical protein binding | IPI | 18799622 |
GO:0045503 | dynein light chain binding | IPI | 27482052 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000242 | pericentriolar material | IEA,ISS | -- |
GO:0005737 | cytoplasm | IBA | 21873635 |
GO:0005794 | Golgi apparatus | IEA | -- |
GO:0005801 | cis-Golgi network | IDA | 11238449 |
GO:0005813 | centrosome | IEA,ISS | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0007032 | endosome organization | IMP | 18799622 |
GO:0007040 | lysosome organization | IMP | 18799622 |
GO:0008333 | endosome to lysosome transport | IMP | 18799622 |
GO:0015031 | protein transport | IEA | -- |
GO:0022027 | interkinetic nuclear migration | IEA,ISS | -- |
This gene was present in the common ancestor of animals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | HOOK3 30 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | -- 31 |
|
OneToMany | |
-- 31 |
|
OneToMany | |||
Platypus (Ornithorhynchus anatinus) |
Mammalia | HOOK3 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | HOOK3 30 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Hook3 30 17 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Hook3 30 |
|
||
Cow (Bos Taurus) |
Mammalia | HOOK3 30 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | HOOK3 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | HOOK3 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | hook3 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | HOOK3 31 |
|
OneToOne | |
Dr.5440 30 |
|
||||
Fruit Fly (Drosophila melanogaster) |
Insecta | hk 30 31 32 |
|
OneToMany | |
African malaria mosquito (Anopheles gambiae) |
Insecta | HOOK_ANOGA 30 |
|
||
Sea Vase (Ciona intestinalis) |
Ascidiacea | Cin.4526 30 |
|
SNP ID | Clinical significance and condition | Chr 08 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
770193 | Benign: not provided | 42,973,284(+) | A/G | INTRON_VARIANT | |
rs1563293555 | Likely Pathogenic: Short stature | 42,930,130(+) | T/G | MISSENSE_VARIANT | |
rs747141054 | Likely Pathogenic: Short stature | 42,973,316(+) | G/A | MISSENSE_VARIANT | |
VAR_035710 | A breast cancer sample | p.Gln221Arg | |||
rs34131505 | - | p.Tyr670Ser |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
esv1916461 | CNV | deletion | 18987734 |
esv3891387 | CNV | gain | 25118596 |
nsv1032781 | CNV | gain | 25217958 |
nsv480663 | CNV | novel sequence insertion | 20440878 |
Disorder | Aliases | PubMed IDs |
---|---|---|
small intestine neuroendocrine neoplasm |
|
|
small intestine benign neoplasm |
|
|
dystonia 6, torsion |
|
|
hermansky-pudlak syndrome 9 |
|
|
gluten allergy |
|
|