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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 Vesicle-mediated transport and Clathrin derived vesicle budding. 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 | wtCFTR and delta508-CFTR traffic / Generic schema (norm and 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,IBA | 21873635 |
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 |
---|---|---|---|---|---|
rs116797926 | Benign: not provided | 122,854,035(+) |
T/C NM_003959.3(HIP1R):c.578-8T>C |
INTRON | |
rs117866676 | Benign: not provided | 122,858,159(+) |
C/T NM_003959.3(HIP1R):c.1873C>T (p.Arg625Trp) |
MISSENSE | |
rs138068677 | Benign: not provided | 122,861,500(+) |
A/C NM_003959.3(HIP1R):c.3145A>C (p.Arg1049=) |
SYNONYMOUS | |
rs371380314 | Likely Benign: not provided | 122,859,139(+) |
G/A NM_003959.3(HIP1R):c.2237G>A (p.Arg746Gln) |
MISSENSE | |
rs372374186 | Likely Benign: not provided | 122,857,219(+) |
T/C NM_003959.3(HIP1R):c.1815+4T>C |
MISSENSE_VARIANT,INTRON |
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, late-onset |
|
|