HIP1 - huntingtin interacting protein 1 Gene

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

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 3092

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	References	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	References	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	References	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

HIP1 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	HIP1	O00291	ATG10	Homo sapiens	Q9H0Y0	Y2H Array	32814053
Intra	HIP1	O00291	ATG10	Homo sapiens	Q9H0Y0	Y2H Pooling	32814053
Intra	HIP1	O00291	ATG10	Homo sapiens	Q9H0Y0	Validated Y2H	32814053
Intra	HIP1	O00291	RPRM	Homo sapiens	Q9NS64	Y2H Array	32296183
Intra	HIP1	O00291	RPRM	Homo sapiens	Q9NS64	Y2H Prey Pooling	32296183
Intra	HIP1	O00291	RPRM	Homo sapiens	Q9NS64	Validated Y2H	32296183
Intra	HIP1	O00291	RHEB	Homo sapiens	Q15382	Y2H Array	32814053
Intra	HIP1	O00291	RHEB	Homo sapiens	Q15382	Y2H Pooling	32814053
Intra	HIP1	O00291	RHEB	Homo sapiens	Q15382	Validated Y2H	32814053
Intra	HIP1	O00291	CYRIB	Homo sapiens	Q9NUQ9	Validated Y2H	32296183
Intra	HIP1	O00291	KLHL36	Homo sapiens	Q8N4N3-2	Y2H Pooling	32814053
Intra	HIP1	O00291	KLHL36	Homo sapiens	Q8N4N3-2	Validated Y2H	32814053
Intra	HIP1	O00291	KLHL36	Homo sapiens	Q8N4N3-2	Y2H Array	32814053
Intra	HIP1	O00291	TCEANC	Homo sapiens	Q8N8B7-2	Validated Y2H	32296183
Intra	HIP1	O00291	FAM168A	Homo sapiens	Q92567-2	Validated Y2H	32296183
Intra	HIP1	O00291	TGM5	Homo sapiens	O43548	Y2H Pooling	32814053
Intra	HIP1	O00291	TGM5	Homo sapiens	O43548	Validated Y2H	32814053
Intra	HIP1	O00291	TGM5	Homo sapiens	O43548	Y2H Array	32814053
Intra	HIP1	O00291	NPEPL1	Homo sapiens	Q8NDH3-5	Y2H Pooling	32814053
Intra	HIP1	O00291	NPEPL1	Homo sapiens	Q8NDH3-5	Validated Y2H	32814053
Intra	HIP1	O00291	NPEPL1	Homo sapiens	Q8NDH3-5	Y2H Array	32814053
Intra	HIP1	O00291	COL2A1	Homo sapiens	P02458-1	Validated Y2H	32814053
Intra	HIP1	O00291	COL2A1	Homo sapiens	P02458-1	Y2H Array	32814053
Intra	HIP1	O00291	COL2A1	Homo sapiens	P02458-1	Y2H Pooling	32814053
Intra	HIP1	O00291	MPI	Homo sapiens	P34949-2	Validated Y2H	32814053
Intra	HIP1	O00291	MPI	Homo sapiens	P34949-2	Y2H Pooling	32814053
Intra	HIP1	O00291	MPI	Homo sapiens	P34949-2	Y2H Array	32814053
Intra	HIP1	O00291	EHHADH	Homo sapiens	Q08426	Validated Y2H	32296183
Intra	HIP1	O00291	NAB2	Homo sapiens	Q15742-2	Y2H Pooling	32814053
Intra	HIP1	O00291	NAB2	Homo sapiens	Q15742-2	Validated Y2H	32814053
Intra	HIP1	O00291	NAB2	Homo sapiens	Q15742-2	Y2H Array	32814053
Intra	HIP1	O00291	RGR	Homo sapiens	P47804-3	Y2H Array	32814053
Intra	HIP1	O00291	RGR	Homo sapiens	P47804-3	Validated Y2H	32814053
Intra	HIP1	O00291	RGR	Homo sapiens	P47804-3	Y2H Pooling	32814053
Intra	HIP1	O00291	ACTL7B	Homo sapiens	Q9Y614	Y2H Array	32814053
Intra	HIP1	O00291	ACTL7B	Homo sapiens	Q9Y614	Y2H Pooling	32814053
Intra	HIP1	O00291	ACTL7B	Homo sapiens	Q9Y614	Validated Y2H	32814053
Intra	HIP1	O00291	VPS54	Homo sapiens	Q9P1Q0-4	Y2H Pooling	32814053
Intra	HIP1	O00291	VPS54	Homo sapiens	Q9P1Q0-4	Validated Y2H	32814053
Intra	HIP1	O00291	VPS54	Homo sapiens	Q9P1Q0-4	Y2H Array	32814053
Intra	HIP1	O00291	WDR31	Homo sapiens	Q8NA23-2	Validated Y2H	32814053
Intra	HIP1	O00291	WDR31	Homo sapiens	Q8NA23-2	Y2H Pooling	32814053
Intra	HIP1	O00291	WDR31	Homo sapiens	Q8NA23-2	Y2H Array	32814053
Intra	HIP1	O00291	SF3B3	Homo sapiens	Q15393	Validated Y2H	32814053
Intra	HIP1	O00291	SF3B3	Homo sapiens	Q15393	Y2H Array	32814053
Intra	HIP1	O00291	SF3B3	Homo sapiens	Q15393	Y2H Pooling	32814053
Intra	HIP1	O00291	TIGAR	Homo sapiens	Q9NQ88	Validated Y2H	32814053
Intra	HIP1	O00291	TIGAR	Homo sapiens	Q9NQ88	Y2H Pooling	32814053
Intra	HIP1	O00291	TIGAR	Homo sapiens	Q9NQ88	Y2H Array	32814053
Intra	HIP1	O00291	GLS2	Homo sapiens	Q9UI32	Validated Y2H	32296183
Intra	HIP1	O00291	CBX4	Homo sapiens	O00257-3	Y2H Array	32814053
Intra	HIP1	O00291	CBX4	Homo sapiens	O00257-3	Y2H Pooling	32814053
Intra	HIP1	O00291	CBX4	Homo sapiens	O00257-3	Validated Y2H	32814053
Intra	HIP1	O00291	CLTA	Homo sapiens	P09496-2	Validated Y2H	32814053
Intra	HIP1	O00291	CLTA	Homo sapiens	P09496-2	Y2H Array	32814053
Intra	HIP1	O00291	CLTA	Homo sapiens	P09496-2	Y2H Pooling	32814053
Intra	HIP1	O00291	HTT	Homo sapiens	P42858	Y2H	17500595
Intra	HIP1	O00291	HTT	Homo sapiens	P42858	Anti Tag CoIP	22835334
Intra	HIP1	O00291	HTT	Homo sapiens	P42858	Validated Y2H	32814053
Intra	HIP1	O00291	HTT	Homo sapiens	P42858	Y2H Array	32814053
Intra	HIP1	O00291	HTT	Homo sapiens	P42858	Y2H Pooling	32814053
Intra	HIP1	O00291	CTNNB1	Homo sapiens	P35222	Y2H Array	32814053
Intra	HIP1	O00291	CTNNB1	Homo sapiens	P35222	Y2H Pooling	32814053
Intra	HIP1	O00291	CTNNB1	Homo sapiens	P35222	Validated Y2H	32814053
Intra	HIP1	O00291	TCEA2	Homo sapiens	Q15560	Validated Y2H	32296183
Intra	HIP1	O00291	JPT1	Homo sapiens	Q9UK76	Validated Y2H	32814053
Intra	HIP1	O00291	JPT1	Homo sapiens	Q9UK76	Y2H Array	32814053
Intra	HIP1	O00291	JPT1	Homo sapiens	Q9UK76	Y2H Pooling	32814053
Intra	HIP1	O00291	LITAF	Homo sapiens	Q99732	Validated Y2H	32296183
Intra	HIP1	O00291	LITAF	Homo sapiens	Q99732	Validated Y2H	32814053
Intra	HIP1	O00291	LITAF	Homo sapiens	Q99732	Y2H Pooling	32814053
Intra	HIP1	O00291	LITAF	Homo sapiens	Q99732	Y2H Array	32814053
Intra	HIP1	O00291	LNX1	Homo sapiens	Q8TBB1	Validated Y2H	32296183
Intra	HIP1	O00291	CFAP53	Homo sapiens	Q96M91	Validated Y2H	32296183
Intra	HIP1	O00291	SYT17	Homo sapiens	Q9BSW7	Validated Y2H	32296183
Intra	HIP1	O00291	TENT5B	Homo sapiens	Q96A09	Validated Y2H	32814053
Intra	HIP1	O00291	TENT5B	Homo sapiens	Q96A09	Y2H Array	32814053
Intra	HIP1	O00291	TENT5B	Homo sapiens	Q96A09	Y2H Pooling	32814053
Cross	HIP1	O00291	Necap1	Mus musculus	Q9CR95	Pull Down	17762867
Intra	HIP1	O00291	AK8	Homo sapiens	Q96MA6	Validated Y2H	32814053
Intra	HIP1	O00291	AK8	Homo sapiens	Q96MA6	Y2H Pooling	32814053
Intra	HIP1	O00291	AK8	Homo sapiens	Q96MA6	Y2H Array	32814053
Intra	HIP1	O00291	BAAT	Homo sapiens	Q14032	Validated Y2H	32814053
Intra	HIP1	O00291	BAAT	Homo sapiens	Q14032	Y2H Array	32814053
Intra	HIP1	O00291	BAAT	Homo sapiens	Q14032	Y2H Pooling	32814053
Intra	HIP1	O00291	TCAP	Homo sapiens	O15273	Y2H Pooling	32814053
Intra	HIP1	O00291	TCAP	Homo sapiens	O15273	Validated Y2H	32814053
Intra	HIP1	O00291	TCAP	Homo sapiens	O15273	Y2H Array	32814053
Intra	HIP1	O00291	RAD23B	Homo sapiens	P54727	Validated Y2H	32296183
Cross	HIP1	O00291	Apaf1	Rattus norvegicus	Q9EPV5	Pull Down	16979168
Cross	HIP1	O00291	Apaf1	Rattus norvegicus	Q9EPV5	Anti Tag CoIP	16979168

Cross: Cross-species interaction Intra: Intraspecies interaction

HIP1 Antibodies

Cat. No.	상품명	신청	Reactivity
HY-P81778	HIP1 Antibody (YA1523)	WB, ICC/IF, IP	Human, Mouse, Rat

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

Pre-clinical Phase

Bioactive Molecules (6)

Cat. No.	상품명	효과	Purity	Rare Diseases
HY-107551	Hh Pathway-IN-1		99.06%	Unkown
HY-RS12742	SETD2 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-179558	MS1-96	Degrader	/	Unkown
HY-P3799	[Glp6] Substance P (6-11)		/	Unkown
HY-RS06179	HIP1 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS06180	HIP1R Human Pre-designed siRNA Set A	Pre-designed Set	/	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