1. Gene
  2. HIP1 - huntingtin interacting protein 1 Gene

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
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

ANTH: ANTH domain (38 - 306)

I_LWEQ

I_LWEQ: I/LWEQ domain (861 - 1010)

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

HIP1 Antibodies

Cat. No. Product Name Application 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

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