HIP1 - huntingtin interacting protein 1 Gene

Homo sapiens

Also known as SHON; HIP-I; ILWEQ; SHONbeta; SHONgamma

Gene ID: 3092 | Gene type: protein coding

About HIP1

Cytogenetic location: 7q11.23 Genomic coordinates (GRCh38): 7:75,533,298-75,738,941 (from NCBI)

This gene has 7 transcripts (splice variants), 212 orthologues, 1 paralogue and is associated with 78 phenotypes. Ubiquitous expression in brain (RPKM 11.4), lung (RPKM 10.8) and 23 other tissues.

Summary

The product of this gene is a membrane-associated protein that functions in clathrin-mediated endocytosis and protein trafficking within the cell. The encoded protein binds to the Huntingtin protein in the brain; this interaction is lost in Huntington's disease. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]

HIP1 Products(4)

mRNA	Protein	Name
NM_001243198.3	NP_001230127.1	huntingtin-interacting protein 1 isoform 2
NM_001382444.1	NP_001369373.1	huntingtin-interacting protein 1 isoform 3
NM_001382445.1	NP_001369374.1	huntingtin-interacting protein 1 isoform 4
NM_005338.7	NP_005329.3	huntingtin-interacting protein 1 isoform 1

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables AP-2 adaptor complex binding	IPI IPI: Inferred from physical interaction	15533940	GOA
enables actin filament binding	IDA IDA: Inferred from direct assay	18790740	GOA
enables clathrin binding	IDA IDA: Inferred from direct assay	11577110	GOA
enables clathrin light chain binding	IPI IPI: Inferred from physical interaction	15533940	GOA
enables phosphatidylinositol 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-3-phosphate binding	IDA IDA: Inferred from direct assay	14732715	GOA
NOT enables phosphatidylinositol-4,5-bisphosphate binding	IDA IDA: Inferred from direct assay	14732715	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	9140394	GOA
enables protein heterodimerization activity	IPI IPI: Inferred from physical interaction	15533940	GOA
enables protein homodimerization activity	IPI IPI: Inferred from physical interaction	15533940	GOA

Biological Process GO Annotation	Evidence	Reference	Source
acts upstream of or within activation of cysteine-type endopeptidase activity involved in apoptotic process	IDA IDA: Inferred from direct assay	11788820	GOA
acts upstream of or within apoptotic process	IDA IDA: Inferred from direct assay	11788820	GOA
involved in apoptotic signaling pathway	IDA IDA: Inferred from direct assay	11007801	GOA
acts upstream of or within clathrin coat assembly	IDA IDA: Inferred from direct assay	11577110	GOA
involved in clathrin coat assembly	IDA IDA: Inferred from direct assay	11889126	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 platelet-derived growth factor receptor-beta signaling pathway	IMP IMP: Inferred from mutant phenotype	14732715	GOA
involved in positive regulation of receptor-mediated endocytosis	IMP IMP: Inferred from mutant phenotype	11532990	GOA
involved in protein stabilization	IDA IDA: Inferred from direct assay	14732715	GOA
acts upstream of or within regulation of apoptotic process	IDA IDA: Inferred from direct assay	11788820	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
located in Golgi apparatus	IDA IDA: Inferred from direct assay	11788820	GOA
located in clathrin-coated vesicle	IDA IDA: Inferred from direct assay	11517213	GOA
located in cytoplasm	IDA IDA: Inferred from direct assay	11604514	GOA
located in presynapse	IDA IDA: Inferred from direct assay	20074057	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

HIP1 Protein Structure

ANTH

I_LWEQ

0
200
400
600
800
1037 a.a.

Protein Preferred Names

Protein Names

huntingtin-interacting protein 1

huntingtin-interacting protein I

Related Diseases

Diseases

Alias

Chronic Myelomonocytic Leukemia

Leukemia, Myelomonocytic, Chronic	Cmml
Leukemia Myelomonocytic Chronic	Cmml - [Chronic Myelomonocytic Leukaemia]
Chronic Myelomonocytic Leukaemia Without Mention Of Remission	Chronic Monocytic Leukaemia
Chronic Monocytoid Leukaemia

Huntington Disease

Huntington'S Disease	Huntington Chorea
Huntington'S Chorea	HD
Huntington Chronic Progressive Hereditary Chorea	Juvenile Huntington Disease
Chronic Progressive Chorea	Chronic Progressive Hereditary Chorea
Hc - [Huntington Chorea]	Hereditary Chorea
Progressive Hereditary Chorea

Penis Carcinoma In Situ

Carcinoma In Situ Of Penis	Bowen'S Disease Of Penis
Grade Iii Squamous Intraepithelial Lesion Of Penis	Penile Intraepithelial Neoplasia Grade Iii
Queyrat'S Erythroplasia	Erythroplasia Of Queyrat
Pin - [Penile Intraepithelial Neoplasia]

Nivelon-Nivelon-Mabille Syndrome

Chondrodysplasia-Pseudohermaphroditism Syndrome	NNMS
Chondrodysplasia-Disorder Of Sex Development Syndrome	Nivelon Nivelon Mabille Syndrome

Megalencephalic Leukoencephalopathy With Subcortical Cysts 2a

MLC2A	Leukoencephalopathy, Megalencephalic, With Subcortical Cysts, 2a
Leukoencephalopathy, Megalencephalic, With Subcortical Cysts, Type 2a

Leukodystrophy, Hypomyelinating, 4

Mitochondrial Hsp60 Chaperonopathy	Hypomyelinating Leukodystrophy 4
HLD4	Mitchap60 Disease
Pelizaeus-Merzbacher-Like Disease Due To Hspd1 Mutation	Mitchap-60 Disease
Leukodystrophy, Hypomyelinating, Type 4

Ancylostomiasis

Ankylostomiasis	Hookworm Infection
Hookworm Infections	Ancylostomiasis Due To Ancylostoma Duodenale
Ancylostoma Duodenale Infection

Basal Cell Nevus Syndrome

Nevoid Basal Cell Carcinoma Syndrome	Gorlin Syndrome
Nbccs	BCNS
Gorlin-Goltz Syndrome	Multiple Basal Cell Nevi, Odontogenic Keratocysts, And Skeletal Anomalies
Cerebral Gigantism Jaw Cysts	Cramer Niederdellmann Syndrome
Gorlin Syndrome Or Gorlin-Goltz Syndrome	Naevoid Basal Cell Carcinoma Syndrome

Charcot-Marie-Tooth Disease

Cmt	Hmsn
Hereditary Motor And Sensory Neuropathy	Pma
Cmt - Charcot-Marie-Tooth Disease	Charcot Marie Tooth Disease
Charcot-Marie-Tooth Hereditary Neuropathy	Charcot-Marie-Tooth Syndrome
Peroneal Muscular Atrophy	Hereditary Motor And Sensory Neuropathies

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 (3)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-P3799	[Glp6] Substance P (6-11)		/	Unkown
HY-RS06179	HIP1 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown
HY-RS06180	HIP1R Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Bos taurus	HIP1	VGNC	VGNC:29857
Felis catus	HIP1	VGNC	VGNC:67573
Macaca mulatta	HIP1	VGNC	VGNC:73471
Rattus norvegicus	HIP1	RGD	RGD:620305
Mus musculus	HIP1	MGD	MGI:1099804
Canis familiaris	HIP1	VGNC	VGNC:41691
Others	HIP1	NCBI

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