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HIP1R (Huntingtin Interacting Protein 1 Related) is a Protein Coding gene. Diseases associated with HIP1R include Mental Retardation, Autosomal Dominant 56 and Cataract 8, Multiple Types. Among its related pathways are Clathrin derived vesicle budding and Vesicle-mediated transport. Gene Ontology (GO) annotations related to this gene include actin binding and phosphatidylinositol binding. An important paralog of this gene is HIP1.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0003779 | actin binding | IEA | -- |
GO:0005515 | protein binding | IPI | 11889126 |
GO:0005543 | phospholipid binding | IEA | -- |
GO:0005546 | phosphatidylinositol-4,5-bisphosphate binding | IDA | 14732715 |
GO:0005547 | phosphatidylinositol-3,4,5-trisphosphate binding | IDA | 14732715 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005737 | cytoplasm | IEA | -- |
GO:0005739 | mitochondrion | IEA | -- |
GO:0005829 | cytosol | TAS | -- |
GO:0005856 | cytoskeleton | IEA | -- |
GO:0005886 | plasma membrane | IDA | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Clathrin derived vesicle budding | ||
2 | Vesicle-mediated transport | ||
3 | Delta508-CFTR traffic / ER-to-Golgi in CF |
Transport Clathrin-coated vesicle cycle
.32
|
wtCFTR and delta508 traffic / Clathrin coated vesicles formation (norm and CF)
.31
|
4 | Clathrin-mediated endocytosis |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0006897 | endocytosis | IEA | -- |
GO:0006898 | receptor-mediated endocytosis | IEA,IMP | 11889126 |
GO:0006915 | apoptotic process | IEA | -- |
GO:0006919 | activation of cysteine-type endopeptidase activity involved in apoptotic process | IDA | 19255499 |
GO:0007015 | actin filament organization | IBA | 21873635 |
ExUns: | 1 | ^ | 2a | · | 2b | ^ | 3 | ^ | 4 | ^ | 5 | ^ | 6a | · | 6b | ^ | 7 | ^ | 8 | ^ | 9 | ^ | 10 | ^ | 11 | ^ | 12 | ^ | 13 | ^ | 14 | ^ | 15 | ^ | 16 | ^ | 17a | · | 17b | ^ | 18 | ^ | 19a | · | 19b | · | 19c | ^ | 20 | ^ | 21 | ^ |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||||||
SP2: | - | |||||||||||||||||||||||||||||||||||||||||||||||||||
SP3: | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||||
SP4: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP5: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP6: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP7: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP8: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP9: |
ExUns: | 22a | · | 22b | ^ | 23 | ^ | 24 | ^ | 25 | ^ | 26 | ^ | 27a | · | 27b | · | 27c | ^ | 28a | · | 28b | ^ | 29 | ^ | 30 | ^ | 31 | ^ | 32a | · | 32b | ^ | 33a | · | 33b | · | 33c | ^ | 34 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | |||||||||||||||||||||||||||||||||||||||
SP2: | |||||||||||||||||||||||||||||||||||||||
SP3: | - | ||||||||||||||||||||||||||||||||||||||
SP4: | - | ||||||||||||||||||||||||||||||||||||||
SP5: | |||||||||||||||||||||||||||||||||||||||
SP6: | |||||||||||||||||||||||||||||||||||||||
SP7: | - | - | - | ||||||||||||||||||||||||||||||||||||
SP8: | |||||||||||||||||||||||||||||||||||||||
SP9: |
This gene was present in the common ancestor of animals and fungi.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | HIP1R 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | HIP1R 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | HIP1R 30 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Hip1r 30 |
|
||
Mouse (Mus musculus) |
Mammalia | Hip1r 30 17 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | HIP1R 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | HIP1R 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | HIP1R 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | HIP1R 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | hip1r 30 |
|
||
Str.16702 30 |
|
||||
Zebrafish (Danio rerio) |
Actinopterygii | hip1rb 30 31 |
|
OneToMany | |
HIP1R (2 of 2) 31 |
|
OneToMany | |||
Fruit Fly (Drosophila melanogaster) |
Insecta | Hip1 31 |
|
OneToMany | |
Worm (Caenorhabditis elegans) |
Secernentea | tag-138 31 |
|
ManyToMany | |
Baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | SLA2 31 33 |
|
OneToMany | |
Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
ManyToMany | |
-- 31 |
|
ManyToMany |
SNP ID | Clinical significance and condition | Chr 12 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
708328 | Likely Benign: not provided | 122,857,219(+) | T/C | MISSENSE_VARIANT,INTRON_VARIANT | |
715523 | Benign: not provided | 122,858,159(+) | C/T | MISSENSE_VARIANT | |
723338 | Likely Benign: not provided | 122,859,139(+) | G/A | MISSENSE_VARIANT | |
742542 | Likely Benign: not provided | 122,859,764(+) | G/C | INTRON_VARIANT | |
768594 | Benign: not provided | 122,854,035(+) | T/C | INTRON_VARIANT |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
esv1005186 | CNV | deletion | 20482838 |
esv1123331 | CNV | deletion | 17803354 |
esv2746501 | CNV | deletion | 23290073 |
nsv1069706 | CNV | deletion | 25765185 |
nsv1070137 | CNV | deletion | 25765185 |
nsv1136158 | CNV | deletion | 24896259 |
nsv1139710 | CNV | deletion | 24896259 |
nsv517200 | CNV | loss | 19592680 |
nsv52581 | CNV | deletion | 16902084 |
nsv52669 | CNV | deletion | 16902084 |
nsv560490 | CNV | loss | 21841781 |
nsv7239 | OTHER | inversion | 18451855 |
nsv952498 | CNV | deletion | 24416366 |
Disorder | Aliases | PubMed IDs |
---|---|---|
mental retardation, autosomal dominant 56 |
|
|
cataract 8, multiple types |
|
|
expressive language disorder |
|
|
gastritis, familial giant hypertrophic |
|
|
parkinson disease 21 |
|
|