Gene Gene information from NCBI Gene database.
Entrez ID 9026
Gene name Huntingtin interacting protein 1 related
Gene symbol HIP1R
Synonyms (NCBI Gene)
HIP12HIP3ILWEQ
Chromosome 12
Chromosome location 12q24.31
miRNA miRNA information provided by mirtarbase database.
172
miRTarBase ID miRNA Experiments Reference
MIRT018313 hsa-miR-335-5p Microarray 18185580
MIRT049108 hsa-miR-92a-3p CLASH 23622248
MIRT045883 hsa-miR-128-3p CLASH 23622248
MIRT440504 hsa-miR-493-5p HITS-CLIP 24374217
MIRT440504 hsa-miR-493-5p HITS-CLIP 24374217
Transcription factors Transcription factors information provided by TRRUST V2 database.
1
Transcription factor Regulation Reference
FOXP1 Unknown 23884370
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
90
GO ID Ontology Definition Evidence Reference
GO:0003779 Function Actin binding IEA
GO:0005515 Function Protein binding IPI 11889126, 19255499, 32296183
GO:0005543 Function Phospholipid binding IEA
GO:0005546 Function Phosphatidylinositol-4,5-bisphosphate binding IDA 14732715
GO:0005547 Function Phosphatidylinositol-3,4,5-trisphosphate binding IDA 14732715
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
605613 18415 ENSG00000130787
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
O75146
Protein name Huntingtin-interacting protein 1-related protein (HIP1-related protein) (Huntingtin-interacting protein 12) (HIP-12)
Protein function Component of clathrin-coated pits and vesicles, that may link the endocytic machinery to the actin cytoskeleton. Binds 3-phosphoinositides (via ENTH domain). May act through the ENTH domain to promote cell survival by stabilizing receptor tyrosi
PDB 1R0D
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF07651 ANTH 30 299 ANTH domain Domain
PF16515 HIP1_clath_bdg 461 559 Clathrin-binding domain of Huntingtin-interacting protein 1 Coiled-coil
PF01608 I_LWEQ 862 1010 I/LWEQ domain Family
Tissue specificity TISSUE SPECIFICITY: Brain, heart, kidney, pancreas, and liver, but not in lung or placenta.
Sequence
MNSIKNVPARVLSRRPGHSLEAEREQFDKTQAISISKAINTQEAPVKEKHARRIILGTHH
EKGAFTFWSYAIGLPLPSSSILSWKFCHVLHKVLRDGHPNVLHDCQRYRSNIREIGDLWG
HLHDRYGQLVNVYTKLLLTKISFHLKHPQFPAGLEVTDEVLEKAAGTDVNNIFQLTVEMF
DYMDCELKLSESVFRQLNTAIAVSQMSSGQCRLAPLIQVIQDCSHLYHYTVKLLFKLHSC
LPADTLQGHRDRFHEQFHSLRNFFRRASDMLYFKRLIQIPRLPEGPPNFLRASALAEHI
K
PVVVIPEEAPEDEEPENLIEISTGPPAGEPVVVADLFDQTFGPPNGSVKDDRDLQIESLK
REVEMLRSELEKIKLEAQRYIAQLKSQVNALEGELEEQRKQKQKALVDNEQLRHELAQLR
AAQLEGERSQGLREEAERKASATEARYNKLKEKHSELVHVHAELLRKNADTAKQLTVTQQ
SQEEVARVKEQLAFQVEQVKRESELKLEEKSDQLEKLKRELEAKAGELARAQEALSHTEQ
SKSELSSRLDTLSAEKDAL
SGAVRQREADLLAAQSLVRETEAALSREQQRSSQEQGELQG
RLAERESQEQGLRQRLLDEQFAVLRGAAAEAAGILQDAVSKLDDPLHLRCTSSPDYLVSR
AQEALDAVSTLEEGHAQYLTSLADASALVAALTRFSHLAADTIINGGATSHLAPTDPADR
LIDTCRECGARALELMGQLQDQQALRHMQASLVRTPLQGILQLGQELKPKSLDVRQEELG
AVVDKEMAATSAAIEDAVRRIEDMMNQARHASSGVKLEVNERILNSCTDLMKAIRLLVTT
STSLQKEIVESGRGAATQQEFYAKNSRWTEGLISASKAVGWGATQLVEAADKVVLHTGKY
EELIVCSHEIAASTAQLVAASKVKANKHSPHLSRLQECSRTVNERAANVVASTKSGQEQI
EDRDTMDFSGLSLIKLKKQEMETQVRVLELEKTLEAERMRLGELRKQHYV
LAGASGSPGE
EVAIRPSTAPRSVTTKKPPLAQKPSVAPRQDHQLDKKDGIYPAQLVNY
Sequence length 1068
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  Reactome
    Golgi Associated Vesicle Biogenesis
Clathrin-mediated endocytosis
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
9
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
ALZHEIMER DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ATRIAL FIBRILLATION CTD, Disgenet, GWAS catalog
CTD, Disgenet, GWAS catalog
CTD, Disgenet, GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
BIPOLAR DISORDER Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
HEART FAILURE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Adult Diffuse Large B-Cell Lymphoma B-cell Lymphoma BEFREE 23884370
★☆☆☆☆
Found in Text Mining only
Astrocytoma Astrocytoma Pubtator 35511748 Associate
★☆☆☆☆
Found in Text Mining only
Atrial Fibrillation Atrial Fibrillation CTD_human_DG 29892015, 30061737
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Atrial Fibrillation Atrial Fibrillation GWASCAT_DG 29892015, 30061737
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Bipolar Disorder Bipolar Disorder BEFREE 15588756
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Bipolar Disorder Bipolar Disorder PSYGENET_DG 15588756, 17239488
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Carcinogenesis Carcinogenesis Pubtator 36811277 Associate
★☆☆☆☆
Found in Text Mining only
Chronic Lymphocytic Leukemia Lymphocytic Leukemia BEFREE 19453646
★☆☆☆☆
Found in Text Mining only
Diffuse Large B-Cell Lymphoma Diffuse Lymphoma BEFREE 23884370, 27224915
★☆☆☆☆
Found in Text Mining only
Essential Tremor Tremor BEFREE 21734494
★☆☆☆☆
Found in Text Mining only