HIP1R - huntingtin interacting protein 1 related Gene

Also Known as HIP3; HIP12; ILWEQ

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 9026

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 Références 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 Références 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 Références 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

ANTH: ANTH domain (29 - 298)

I_LWEQ

I_LWEQ: I/LWEQ domain (861 - 1010)

  • 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
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method Références
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

Pre-clinical Phase

Bioactive Molecules (2)
Cat. No. Nom du produit
Effect
Pureté
Rare Diseases
HY-179558 MS1-96 Degrader / Unkown
HY-RS06180 HIP1R Human Pre-designed siRNA Set A Pre-designed Set / 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
Others HIP1R NCBI