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 categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
2
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Hepatocellular carcinoma Uncertain significance rs149504879 RCV005928994
Ovarian serous cystadenocarcinoma Uncertain significance rs150109184 RCV005930738
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Astrocytoma Associate 35511748
Carcinogenesis Associate 36811277
Drug Related Side Effects and Adverse Reactions Associate 32548851
Glioma Associate 35511748
Lymphoma Large B Cell Diffuse Associate 27224915
Neoplasms Inhibit 32548851, 36811277
Oligodendroglioma Associate 35511748
Pancreatic Neoplasms Associate 36811277
Parkinson Disease Associate 21812969, 22786590
Parkinson Disease Stimulate 24312176