HIP1R - huntingtin interacting protein 1 related Gene

Homo sapiens

Also known as HIP3; HIP12; ILWEQ

Gene ID: 9026 | Gene type: protein coding

About HIP1R

Cytogenetic location: 12q24.31 Genomic coordinates (GRCh38): 12:122,834,748-122,862,961 (from NCBI)

This gene has 10 transcripts (splice variants), 272 orthologues and 1 paralogue. Ubiquitous expression in brain (RPKM 19.4), kidney (RPKM 16.5) and 25 other tissues.

Summary

Enables several functions, including phosphatidylinositol phosphate binding activity; phosphatidylinositol-3,4-bisphosphate binding activity; and protein homodimerization activity. Involved in several processes, including positive regulation of signal transduction; protein stabilization; and regulation of organelle organization. Located in clathrin-coated vesicle; cytosol; and ruffle membrane. [provided by Alliance of Genome Resources, Apr 2022]

HIP1R Products(3)

mRNA	Protein	Name
NM_001303097.2	NP_001290026.1	huntingtin-interacting protein 1-related protein isoform 2
NM_001303099.2	NP_001290028.1	huntingtin-interacting protein 1-related protein isoform 3
NM_003959.3	NP_003950.1	huntingtin-interacting protein 1-related protein isoform 1

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables actin filament binding	IDA IDA: Inferred from direct assay	16415883	GOA
enables clathrin binding	IDA IDA: Inferred from direct assay	14732715	GOA
enables identical protein binding	IPI IPI: Inferred from physical interaction	16415883	GOA
enables phosphatidylinositol binding	IDA IDA: Inferred from direct assay	14732715	GOA
enables phosphatidylinositol-3,4,5-trisphosphate binding	IDA IDA: Inferred from direct assay	14732715	GOA
enables phosphatidylinositol-3,4-bisphosphate binding	IDA IDA: Inferred from direct assay	14732715	GOA
enables phosphatidylinositol-3,5-bisphosphate binding	IDA IDA: Inferred from direct assay	14732715	GOA
enables phosphatidylinositol-4,5-bisphosphate binding	IDA IDA: Inferred from direct assay	14732715	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	11889126	GOA
enables protein homodimerization activity	IPI IPI: Inferred from physical interaction	16415883	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in activation of cysteine-type endopeptidase activity involved in apoptotic process	IDA IDA: Inferred from direct assay	19255499	GOA
involved in negative regulation of actin filament polymerization	IMP IMP: Inferred from mutant phenotype	17318189	GOA
involved in positive regulation of apoptotic process	IGI IGI: Inferred from genetic interaction	19255499	GOA
involved in positive regulation of epidermal growth factor receptor signaling pathway	IMP IMP: Inferred from mutant phenotype	14732715	GOA
involved in positive regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway	IGI IGI: Inferred from genetic interaction	19255499	GOA
involved in positive regulation of platelet-derived growth factor receptor-beta signaling pathway	IMP IMP: Inferred from mutant phenotype	14732715	GOA
involved in positive regulation of protein binding	IDA IDA: Inferred from direct assay	19255499	GOA
involved in protein stabilization	IDA IDA: Inferred from direct assay	14732715	GOA
involved in receptor-mediated endocytosis	IMP IMP: Inferred from mutant phenotype	11889126	GOA
involved in regulation of actin cytoskeleton organization	IMP IMP: Inferred from mutant phenotype	14742709	GOA
involved in regulation of endocytosis	IMP IMP: Inferred from mutant phenotype	14742709	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
located in clathrin-coated vesicle	IDA IDA: Inferred from direct assay	11889126	GOA
located in ruffle membrane	IDA IDA: Inferred from direct assay	14732715	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

HIP1R Protein Structure

ANTH

I_LWEQ

0
200
400
600
800
1000
1068 a.a.

Protein Preferred Names

Protein Names

huntingtin-interacting protein 1-related protein

HIP-12

HIP1R Protein-protein interaction Information

Type Cross Intra	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Reference
Intra	HIP1R	O75146	HIP1	Homo sapiens	O00291	Anti Tag CoIP	33961781
Intra	HIP1R	O75146	HIP1R	Homo sapiens	O75146	Pull Down	16415883
Intra	HIP1R	O75146	HIP1R	Homo sapiens	O75146	GMS	16415883
Intra	HIP1R	O75146	HIP1	Homo sapiens	O00291	Anti Tag CoIP	28514442
Intra	HIP1R	O75146	GAK	Homo sapiens	O14976	Anti Tag CoIP	33961781
Intra	HIP1R	O75146	GAK	Homo sapiens	O14976	Anti Tag CoIP	28514442

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases

Alias

Expressive Language Disorder

Developmental Expressive Language Disorder

Simpson-Golabi-Behmel Syndrome, Type 2

Simpson-Golabi-Behmel Syndrome Type 2	SGBS2
Simpson-Golabi-Behmel Syndrome 2

Gastritis, Familial Giant Hypertrophic

Menetrier Disease	Gastric Mucosal Hypertrophy
Giant Hypertrophic Gastritis	Hypertrophic Gastropathy
Gastritis, Hypertrophic	Familial Giant Hypertrophic Gastritis
Giant Rugal Hypertrophy Of Stomach	Hypertrophic Gastritis
Gastroenteropathy, Protein Losing	Giant Hypertrophic Gastropathy
Giant Hypertrophy Of The Gastric Mucosa	Hypoproteinemic Hypertrophic Gastropathy
Menetrier'S Disease	Giant Hypertrophic Hypersecretory Gastritis

Parkinson Disease, Late-Onset

Parkinson Disease	Parkinson'S Disease
PD	PARK
Parkinson Disease, Susceptibility To	Late Onset Parkinson'S Disease
Late Onset Parkinson Disease	Paralysis Agitans
Primary Parkinsonism	Idiopathic Parkinson Disease
Parkinson'S	Parkinson Disease, Late-Onset, Susceptibility To
Parkinson Disease, Age Of Onset, Modifier	Lewy Body Parkinson Disease
Idiopathic Parkinson'S Disease	Pd - [Parkinson Disease]
Parkinson Disease Nos	Parkinson, Nos
Primary Parkinson Disease

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS06180	HIP1R Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Bos taurus	HIP1R	VGNC	VGNC:29858
Felis catus	HIP1R	VGNC	VGNC:62818
Mus musculus	HIP1R	MGD	MGI:1352504
Macaca mulatta	HIP1R	VGNC	VGNC:73412
Rattus norvegicus	HIP1R	RGD	RGD:621615
Canis familiaris	HIP1R	VGNC	VGNC:41692

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