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

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

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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