Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	9026
Gene name Gene Name - the full gene name approved by the HGNC.	Huntingtin interacting protein 1 related
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	HIP1R
Synonyms (NCBI Gene) Gene synonyms aliases	HIP12, HIP3, ILWEQ
Chromosome Chromosome number	12
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	12q24.31

Show/Hide all(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
MIRT731581	hsa-miR-23a-3p	Luciferase reporter assay	26898757
MIRT731581	hsa-miR-23a-3p	Luciferase reporter assay	26898757
MIRT731582	hsa-miR-27b-3p	Luciferase reporter assay	26898757
MIRT731582	hsa-miR-27b-3p	Luciferase reporter assay	26898757
MIRT1046375	hsa-miR-106a	CLIP-seq
MIRT1046376	hsa-miR-106b	CLIP-seq
MIRT1046377	hsa-miR-1285	CLIP-seq
MIRT1046378	hsa-miR-132	CLIP-seq
MIRT1046379	hsa-miR-137	CLIP-seq
MIRT1046380	hsa-miR-17	CLIP-seq
MIRT1046381	hsa-miR-20a	CLIP-seq
MIRT1046382	hsa-miR-20b	CLIP-seq
MIRT1046383	hsa-miR-212	CLIP-seq
MIRT1046384	hsa-miR-3065-5p	CLIP-seq
MIRT1046385	hsa-miR-3119	CLIP-seq
MIRT1046386	hsa-miR-3187-5p	CLIP-seq
MIRT1046387	hsa-miR-3671	CLIP-seq
MIRT1046388	hsa-miR-378g	CLIP-seq
MIRT1046389	hsa-miR-3973	CLIP-seq
MIRT1046390	hsa-miR-4314	CLIP-seq
MIRT1046391	hsa-miR-4437	CLIP-seq
MIRT1046392	hsa-miR-4475	CLIP-seq
MIRT1046393	hsa-miR-4486	CLIP-seq
MIRT1046394	hsa-miR-4762-5p	CLIP-seq
MIRT1046395	hsa-miR-495	CLIP-seq
MIRT1046396	hsa-miR-519a	CLIP-seq
MIRT1046397	hsa-miR-519b-3p	CLIP-seq
MIRT1046398	hsa-miR-519c-3p	CLIP-seq
MIRT1046399	hsa-miR-519d	CLIP-seq
MIRT1046400	hsa-miR-520g	CLIP-seq
MIRT1046401	hsa-miR-520h	CLIP-seq
MIRT1046402	hsa-miR-607	CLIP-seq
MIRT1046403	hsa-miR-612	CLIP-seq
MIRT1046404	hsa-miR-629	CLIP-seq
MIRT1046405	hsa-miR-93	CLIP-seq
MIRT1046375	hsa-miR-106a	CLIP-seq
MIRT1046376	hsa-miR-106b	CLIP-seq
MIRT2010491	hsa-miR-1207-3p	CLIP-seq
MIRT2010492	hsa-miR-1207-5p	CLIP-seq
MIRT2010493	hsa-miR-1224-3p	CLIP-seq
MIRT2010494	hsa-miR-1225-3p	CLIP-seq
MIRT2010495	hsa-miR-1251	CLIP-seq
MIRT2010496	hsa-miR-1260	CLIP-seq
MIRT2010497	hsa-miR-1260b	CLIP-seq
MIRT2010498	hsa-miR-1280	CLIP-seq
MIRT2010499	hsa-miR-1289	CLIP-seq
MIRT2010500	hsa-miR-1304	CLIP-seq
MIRT1046379	hsa-miR-137	CLIP-seq
MIRT1046380	hsa-miR-17	CLIP-seq
MIRT2010501	hsa-miR-198	CLIP-seq
MIRT1046381	hsa-miR-20a	CLIP-seq
MIRT1046382	hsa-miR-20b	CLIP-seq
MIRT2010502	hsa-miR-219-1-3p	CLIP-seq
MIRT2010503	hsa-miR-24	CLIP-seq
MIRT2010504	hsa-miR-2467-5p	CLIP-seq
MIRT2010505	hsa-miR-3158-3p	CLIP-seq
MIRT2010506	hsa-miR-3188	CLIP-seq
MIRT2010507	hsa-miR-342-5p	CLIP-seq
MIRT2010508	hsa-miR-3616-3p	CLIP-seq
MIRT2010509	hsa-miR-3622b-5p	CLIP-seq
MIRT2010510	hsa-miR-3669	CLIP-seq
MIRT2010511	hsa-miR-3680	CLIP-seq
MIRT2010512	hsa-miR-3688-3p	CLIP-seq
MIRT2010513	hsa-miR-3714	CLIP-seq
MIRT1046389	hsa-miR-3973	CLIP-seq
MIRT2010514	hsa-miR-3975	CLIP-seq
MIRT2010515	hsa-miR-4253	CLIP-seq
MIRT2010516	hsa-miR-4267	CLIP-seq
MIRT2010517	hsa-miR-4270	CLIP-seq
MIRT2010518	hsa-miR-4281	CLIP-seq
MIRT2010519	hsa-miR-4323	CLIP-seq
MIRT2010520	hsa-miR-4433	CLIP-seq
MIRT2010521	hsa-miR-4441	CLIP-seq
MIRT2010522	hsa-miR-4446-3p	CLIP-seq
MIRT2010523	hsa-miR-4447	CLIP-seq
MIRT2010524	hsa-miR-4459	CLIP-seq
MIRT2010525	hsa-miR-4472	CLIP-seq
MIRT2010526	hsa-miR-4492	CLIP-seq
MIRT2010527	hsa-miR-4498	CLIP-seq
MIRT2010528	hsa-miR-4505	CLIP-seq
MIRT2010529	hsa-miR-4509	CLIP-seq
MIRT2010530	hsa-miR-4651	CLIP-seq
MIRT2010531	hsa-miR-4664-5p	CLIP-seq
MIRT2010532	hsa-miR-4667-3p	CLIP-seq
MIRT2010533	hsa-miR-4709-3p	CLIP-seq
MIRT2010534	hsa-miR-4721	CLIP-seq
MIRT2010535	hsa-miR-4722-5p	CLIP-seq
MIRT2010536	hsa-miR-4723-5p	CLIP-seq
MIRT2010537	hsa-miR-4731-5p	CLIP-seq
MIRT2010538	hsa-miR-4761-3p	CLIP-seq
MIRT2010539	hsa-miR-4762-3p	CLIP-seq
MIRT2010540	hsa-miR-4763-3p	CLIP-seq
MIRT2010541	hsa-miR-4768-3p	CLIP-seq
MIRT2010542	hsa-miR-4779	CLIP-seq
MIRT2010543	hsa-miR-485-5p	CLIP-seq
MIRT2010544	hsa-miR-488	CLIP-seq
MIRT1046396	hsa-miR-519a	CLIP-seq
MIRT1046397	hsa-miR-519b-3p	CLIP-seq
MIRT1046398	hsa-miR-519c-3p	CLIP-seq
MIRT1046399	hsa-miR-519d	CLIP-seq
MIRT1046400	hsa-miR-520g	CLIP-seq
MIRT1046401	hsa-miR-520h	CLIP-seq
MIRT2010545	hsa-miR-608	CLIP-seq
MIRT2010546	hsa-miR-762	CLIP-seq
MIRT2010547	hsa-miR-885-3p	CLIP-seq
MIRT1046405	hsa-miR-93	CLIP-seq
MIRT2010548	hsa-miR-939	CLIP-seq
MIRT2010549	hsa-miR-940	CLIP-seq
MIRT1046375	hsa-miR-106a	CLIP-seq
MIRT1046376	hsa-miR-106b	CLIP-seq
MIRT2242655	hsa-miR-1184	CLIP-seq
MIRT2242656	hsa-miR-1205	CLIP-seq
MIRT2242657	hsa-miR-1237	CLIP-seq
MIRT2242658	hsa-miR-1248	CLIP-seq
MIRT1046378	hsa-miR-132	CLIP-seq
MIRT1046379	hsa-miR-137	CLIP-seq
MIRT2242659	hsa-miR-138	CLIP-seq
MIRT2242660	hsa-miR-149	CLIP-seq
MIRT1046380	hsa-miR-17	CLIP-seq
MIRT1046381	hsa-miR-20a	CLIP-seq
MIRT1046382	hsa-miR-20b	CLIP-seq
MIRT1046383	hsa-miR-212	CLIP-seq
MIRT2010503	hsa-miR-24	CLIP-seq
MIRT2242661	hsa-miR-29a	CLIP-seq
MIRT2242662	hsa-miR-29b	CLIP-seq
MIRT2242663	hsa-miR-29c	CLIP-seq
MIRT1046384	hsa-miR-3065-5p	CLIP-seq
MIRT2242664	hsa-miR-3125	CLIP-seq
MIRT2242665	hsa-miR-3158-5p	CLIP-seq
MIRT2010513	hsa-miR-3714	CLIP-seq
MIRT2242666	hsa-miR-3907	CLIP-seq
MIRT2242667	hsa-miR-3916	CLIP-seq
MIRT1046389	hsa-miR-3973	CLIP-seq
MIRT2242668	hsa-miR-4284	CLIP-seq
MIRT2010520	hsa-miR-4433	CLIP-seq
MIRT2010524	hsa-miR-4459	CLIP-seq
MIRT2242669	hsa-miR-4640-5p	CLIP-seq
MIRT2242670	hsa-miR-4650-5p	CLIP-seq
MIRT2242671	hsa-miR-4689	CLIP-seq
MIRT2010533	hsa-miR-4709-3p	CLIP-seq
MIRT2242672	hsa-miR-4726-5p	CLIP-seq
MIRT2242673	hsa-miR-4747-3p	CLIP-seq
MIRT2242674	hsa-miR-4755-3p	CLIP-seq
MIRT2010539	hsa-miR-4762-3p	CLIP-seq
MIRT2010541	hsa-miR-4768-3p	CLIP-seq
MIRT1046395	hsa-miR-495	CLIP-seq
MIRT1046396	hsa-miR-519a	CLIP-seq
MIRT1046397	hsa-miR-519b-3p	CLIP-seq
MIRT1046398	hsa-miR-519c-3p	CLIP-seq
MIRT1046399	hsa-miR-519d	CLIP-seq
MIRT1046400	hsa-miR-520g	CLIP-seq
MIRT1046401	hsa-miR-520h	CLIP-seq
MIRT2242675	hsa-miR-524-3p	CLIP-seq
MIRT2242676	hsa-miR-525-3p	CLIP-seq
MIRT2242677	hsa-miR-544	CLIP-seq
MIRT2242678	hsa-miR-544b	CLIP-seq
MIRT2242679	hsa-miR-548q	CLIP-seq
MIRT2242680	hsa-miR-577	CLIP-seq
MIRT1046405	hsa-miR-93	CLIP-seq
MIRT2242656	hsa-miR-1205	CLIP-seq
MIRT2010503	hsa-miR-24	CLIP-seq
MIRT2242661	hsa-miR-29a	CLIP-seq
MIRT2242662	hsa-miR-29b	CLIP-seq
MIRT2242663	hsa-miR-29c	CLIP-seq
MIRT2388998	hsa-miR-3136-3p	CLIP-seq
MIRT2388999	hsa-miR-4717-3p	CLIP-seq
MIRT2242680	hsa-miR-577	CLIP-seq

Transcription factors

Show/Hide all(1)

Transcription factor	Regulation	Reference
FOXP1	Unknown	23884370

Show/Hide all(61)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	11889126, 19255499
GO:0005546	Function	Phosphatidylinositol-4,5-bisphosphate binding	IDA	14732715
GO:0005547	Function	Phosphatidylinositol-3,4,5-trisphosphate binding	IDA	14732715
GO:0005739	Component	Mitochondrion	IEA
GO:0005829	Component	Cytosol	IDA
GO:0005829	Component	Cytosol	TAS
GO:0005856	Component	Cytoskeleton	IEA
GO:0005886	Component	Plasma membrane	IDA
GO:0005905	Component	Clathrin-coated pit	IEA
GO:0005938	Component	Cell cortex	IEA
GO:0006897	Process	Endocytosis	IBA	21873635
GO:0006898	Process	Receptor-mediated endocytosis	IMP	11889126
GO:0006915	Process	Apoptotic process	IEA
GO:0006919	Process	Activation of cysteine-type endopeptidase activity involved in apoptotic process	IBA	21873635
GO:0006919	Process	Activation of cysteine-type endopeptidase activity involved in apoptotic process	IDA	19255499
GO:0007015	Process	Actin filament organization	IBA	21873635
GO:0014069	Component	Postsynaptic density	ISS	12650982
GO:0016324	Component	Apical plasma membrane	IEA
GO:0017124	Function	SH3 domain binding	IEA
GO:0030100	Process	Regulation of endocytosis	IMP	14742709
GO:0030100	Process	Regulation of endocytosis	NAS	20074057
GO:0030136	Component	Clathrin-coated vesicle	IBA	21873635
GO:0030136	Component	Clathrin-coated vesicle	IDA	11889126, 14732715
GO:0030276	Function	Clathrin binding	IDA	14732715
GO:0030665	Component	Clathrin-coated vesicle membrane	IEA
GO:0030837	Process	Negative regulation of actin filament polymerization	IMP	17318189
GO:0032051	Function	Clathrin light chain binding	IBA	21873635
GO:0032092	Process	Positive regulation of protein binding	IDA	19255499
GO:0032587	Component	Ruffle membrane	IDA	14732715
GO:0032839	Component	Dendrite cytoplasm	ISS	12650982
GO:0032956	Process	Regulation of actin cytoskeleton organization	IMP	14742709
GO:0034316	Process	Negative regulation of Arp2/3 complex-mediated actin nucleation	IEA
GO:0035091	Function	Phosphatidylinositol binding	IDA	14732715
GO:0035615	Function	Clathrin adaptor activity	IBA	21873635
GO:0042802	Function	Identical protein binding	IPI	16415883
GO:0042803	Function	Protein homodimerization activity	IPI	16415883
GO:0043025	Component	Neuronal cell body	ISS	12650982
GO:0043065	Process	Positive regulation of apoptotic process	IGI	19255499
GO:0043066	Process	Negative regulation of apoptotic process	IEA
GO:0043197	Component	Dendritic spine	ISS	12650982
GO:0043231	Component	Intracellular membrane-bounded organelle	IBA	21873635
GO:0043231	Component	Intracellular membrane-bounded organelle	IDA
GO:0043325	Function	Phosphatidylinositol-3,4-bisphosphate binding	IBA	21873635
GO:0043325	Function	Phosphatidylinositol-3,4-bisphosphate binding	IDA	14732715
GO:0045742	Process	Positive regulation of epidermal growth factor receptor signaling pathway	IMP	14732715
GO:0046982	Function	Protein heterodimerization activity	IEA
GO:0048268	Process	Clathrin coat assembly	IBA	21873635
GO:0048471	Component	Perinuclear region of cytoplasm	IEA
GO:0050821	Process	Protein stabilization	IDA	14732715
GO:0051015	Function	Actin filament binding	IBA	21873635
GO:0051015	Function	Actin filament binding	IDA	16415883
GO:0055123	Process	Digestive system development	IEA
GO:0060453	Process	Regulation of gastric acid secretion	IEA
GO:0061024	Process	Membrane organization	TAS
GO:0080025	Function	Phosphatidylinositol-3,5-bisphosphate binding	IBA	21873635
GO:0080025	Function	Phosphatidylinositol-3,5-bisphosphate binding	IDA	14732715
GO:0097060	Component	Synaptic membrane	ISS	12650982
GO:1901030	Process	Positive regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway	IGI	19255499
GO:1905445	Process	Positive regulation of clathrin coat assembly	IEA
GO:2000369	Process	Regulation of clathrin-dependent endocytosis	NAS	17318189
GO:2000588	Process	Positive regulation of platelet-derived growth factor receptor-beta signaling pathway	IMP	14732715

MIM	HGNC	e!Ensembl
605613	18415	ENSG00000130787

Protein

UniProt ID

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
LPADTLQGHRDRFHEQFHSLRNFFRRASDMLYFKRLIQIPRLPEGPPNFLRASALAEHIK
PVVVIPEEAPEDEEPENLIEISTGPPAGEPVVVADLFDQTFGPPNGSVKDDRDLQIESLK
REVEMLRSELEKIKLEAQRYIAQLKSQVNALEGELEEQRKQKQKALVDNEQLRHELAQLR
AAQLEGERSQGLREEAERKASATEARYNKLKEKHSELVHVHAELLRKNADTAKQLTVTQQ
SQEEVARVKEQLAFQVEQVKRESELKLEEKSDQLEKLKRELEAKAGELARAQEALSHTEQ
SKSELSSRLDTLSAEKDALSGAVRQREADLLAAQSLVRETEAALSREQQRSSQEQGELQG
RLAERESQEQGLRQRLLDEQFAVLRGAAAEAAGILQDAVSKLDDPLHLRCTSSPDYLVSR
AQEALDAVSTLEEGHAQYLTSLADASALVAALTRFSHLAADTIINGGATSHLAPTDPADR
LIDTCRECGARALELMGQLQDQQALRHMQASLVRTPLQGILQLGQELKPKSLDVRQEELG
AVVDKEMAATSAAIEDAVRRIEDMMNQARHASSGVKLEVNERILNSCTDLMKAIRLLVTT
STSLQKEIVESGRGAATQQEFYAKNSRWTEGLISASKAVGWGATQLVEAADKVVLHTGKY
EELIVCSHEIAASTAQLVAASKVKANKHSPHLSRLQECSRTVNERAANVVASTKSGQEQI
EDRDTMDFSGLSLIKLKKQEMETQVRVLELEKTLEAERMRLGELRKQHYVLAGASGSPGE
EVAIRPSTAPRSVTTKKPPLAQKPSVAPRQDHQLDKKDGIYPAQLVNY

Sequence length

1068

Interactions

View interactions

	Reactome
			Golgi Associated Vesicle Biogenesis Clathrin-mediated endocytosis

Show/Hide Causal Diseases (3)

Disease term	Disease name	dbSNP ID	References
Causal
Atrial fibrillation	Atrial Fibrillation	rs120074192, rs121908590, rs121908593, rs121434558, rs587776851, rs387906612, rs387906613, rs387906614, rs387906615, rs199472687, rs199472705, rs199473324, rs587777336, rs587777339, rs587777557 View all (6 more)	30061737, 29892015
Parkinson disease	Parkinson Disease	rs33939927, rs35801418, rs34805604, rs35870237, rs34995376, rs74315355, rs28940284, rs74315356, rs74315357, rs28940285, rs730880302, rs750664040, rs74315359, rs74315360, rs45539432 View all (84 more)	22438815
Schizophrenia	Schizophrenia	rs13447324, rs387906932, rs387906933, rs863223354, rs863223355, rs776061422, rs863223349, rs748809996, rs759748655, rs863223353, rs863223350, rs863223356, rs781821239, rs863223348, rs863223346 View all (12 more)	30285260

Show/Hide Unknown Diseases (4)

Disease term	Disease name	References	Source
Unknown
Paroxysmal atrial fibrillation	Paroxysmal atrial fibrillation	29892015, 30061737	ClinVar
Atrial Fibrillation	Atrial Fibrillation		GWAS
Insomnia	Insomnia		GWAS
Heart Failure	Heart Failure		GWAS

Show/Hide Text Mining Associations (13)

Disease Name	Relationship Type	References
Associations from Text Mining
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
Stomach Neoplasms	Inhibit	32548851, 36811277
Thyroid Neoplasms	Stimulate	35209947
Urinary Bladder Neoplasms	Associate	34541834

HIP1R (huntingtin interacting protein 1 related)