Free for academic non-profit institutions. Other users need a Commercial license

Aliases for HIP1 Gene

Aliases for HIP1 Gene

  • Huntingtin Interacting Protein 1 2 3
  • Huntingtin-Interacting Protein I 3 4
  • HIP-I 3 4
  • Huntingtin-Interacting Protein 1 3
  • HIP-1 4
  • ILWEQ 3

External Ids for HIP1 Gene

Previous GeneCards Identifiers for HIP1 Gene

  • GC07M073699
  • GC07M074762
  • GC07M074776
  • GC07M074777
  • GC07M074808
  • GC07M075001
  • GC07M075162
  • GC07M070249

Summaries for HIP1 Gene

Entrez Gene Summary for HIP1 Gene

  • 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]

GeneCards Summary for HIP1 Gene

HIP1 (Huntingtin Interacting Protein 1) is a Protein Coding gene. Diseases associated with HIP1 include prostate cancer. Among its related pathways are fMLP Pathway and Coregulation of Androgen receptor activity. GO annotations related to this gene include actin binding and phosphatidylinositol binding. An important paralog of this gene is TLN1.

UniProtKB/Swiss-Prot for HIP1 Gene

  • Plays a role in clathrin-mediated endocytosis and trafficking. Involved in regulating AMPA receptor trafficking in the central nervous system in an NMDA-dependent manner. Enhances androgen receptor (AR)-mediated transcription. May act as a proapoptotic protein that induces cell death by acting through the intrinsic apoptosis pathway. Binds 3-phosphoinositides (via ENTH domain). May act through the ENTH domain to promote cell survival by stabilizing receptor tyrosine kinases following ligand-induced endocytosis. May play a functional role in the cell filament networks. May be required for differentiation, proliferation, and/or survival of somatic and germline progenitors.

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for HIP1 Gene

Genomics for HIP1 Gene

Genomic Location for HIP1 Gene

Start:
75,533,298 bp from pter
End:
75,738,972 bp from pter
Size:
205,675 bases
Orientation:
Minus strand

Genomic View for HIP1 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for HIP1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for HIP1 Gene

Proteins for HIP1 Gene

  • Protein details for HIP1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O00291-HIP1_HUMAN
    Recommended name:
    Huntingtin-interacting protein 1
    Protein Accession:
    O00291
    Secondary Accessions:
    • B4E3I7
    • E7ES17
    • O00328
    • Q2TB58
    • Q8TDL4
    • V5LU97

    Protein attributes for HIP1 Gene

    Size:
    1037 amino acids
    Molecular mass:
    116221 Da
    Quaternary structure:
    • Homodimer. Binds actin. Binds HTT (via N-terminus). This interaction is restricted to the brain. Binds to IFT57. In normal conditions, it poorly interacts with IFT57, HIP1 being strongly associated with HTT. However, in mutant HTT proteins with a long poly-Gln region, interaction between HTT and HIP1 is inhibited, promoting the interaction between HIP1 and IFT57. Interacts with CLTB (via N-terminus). Interacts (via coiled coil domain) with AR. Interacts with AP2A1, AP2A2, CLTC and HIP1R. Interacts with GRIA1, GRIN2A AND GRIN2B.
    Miscellaneous:
    • The affinity of the huntingtin protein-HIP1 interaction is inversely correlated to the length of the polyglutamine tract added to the huntingtin protein in Huntington disease
    SequenceCaution:
    • Sequence=AAC51257.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for HIP1 Gene

    Alternative splice isoforms for HIP1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for HIP1 Gene

Proteomics data for HIP1 Gene at MOPED

Post-translational modifications for HIP1 Gene

  • Ubiquitination at Lys9 and Lys17
  • Modification sites at PhosphoSitePlus

Other Protein References for HIP1 Gene

No data available for DME Specific Peptides for HIP1 Gene

Domains for HIP1 Gene

Suggested Antigen Peptide Sequences for HIP1 Gene

Graphical View of Domain Structure for InterPro Entry

O00291

UniProtKB/Swiss-Prot:

HIP1_HUMAN :
  • O00291
Domain:
  • The pseudo DED region (pDED) mediates the interaction with IFT57.
  • Binds F-actin via the talin-like I/LWEQ domain.
  • Contains 1 ENTH (epsin N-terminal homology) domain.
  • Contains 1 I/LWEQ domain.
Family:
  • Belongs to the SLA2 family.
genes like me logo Genes that share domains with HIP1: view

No data available for Gene Families for HIP1 Gene

Function for HIP1 Gene

Molecular function for HIP1 Gene

GENATLAS Biochemistry: huntingtin interacting protein,116kDa,expressed in neurons of the central nervous system,homolog to S.cerevisae SPa2p,putatively involved in neuronal cytoskeleton function
UniProtKB/Swiss-Prot Function: Plays a role in clathrin-mediated endocytosis and trafficking. Involved in regulating AMPA receptor trafficking in the central nervous system in an NMDA-dependent manner. Enhances androgen receptor (AR)-mediated transcription. May act as a proapoptotic protein that induces cell death by acting through the intrinsic apoptosis pathway. Binds 3-phosphoinositides (via ENTH domain). May act through the ENTH domain to promote cell survival by stabilizing receptor tyrosine kinases following ligand-induced endocytosis. May play a functional role in the cell filament networks. May be required for differentiation, proliferation, and/or survival of somatic and germline progenitors.

Gene Ontology (GO) - Molecular Function for HIP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003779 actin binding IEA --
GO:0005200 structural constituent of cytoskeleton TAS 9140394
GO:0005488 binding --
GO:0005515 protein binding IPI 11788820
GO:0005543 phospholipid binding --
genes like me logo Genes that share ontologies with HIP1: view
genes like me logo Genes that share phenotypes with HIP1: view

Animal Models for HIP1 Gene

MGI Knock Outs for HIP1:

Animal Model Products

CRISPR Products

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for HIP1

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , miRNA , Transcription Factor Targeting and HOMER Transcription for HIP1 Gene

Localization for HIP1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for HIP1 Gene

Cytoplasm. Nucleus. Endomembrane system. Cytoplasmic vesicle, clathrin-coated vesicle membrane. Note=Shuttles between cytoplasm and nucleus. Nuclear translocation can be induced by AR.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for HIP1 Gene COMPARTMENTS Subcellular localization image for HIP1 gene
Compartment Confidence
golgi apparatus 5
nucleus 5
cytoskeleton 4
cytosol 3
endoplasmic reticulum 1
mitochondrion 1
peroxisome 1
plasma membrane 1

Gene Ontology (GO) - Cellular Components for HIP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
GO:0005737 cytoplasm IDA 11604514
GO:0005794 Golgi apparatus IDA 11788820
GO:0005856 cytoskeleton TAS 9147654
GO:0016020 membrane TAS 9147654
genes like me logo Genes that share ontologies with HIP1: view

Pathways for HIP1 Gene

genes like me logo Genes that share pathways with HIP1: view

Pathways by source for HIP1 Gene

1 Qiagen pathway for HIP1 Gene

PCR Array Products

Gene Ontology (GO) - Biological Process for HIP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006351 transcription, DNA-templated IEA --
GO:0006355 regulation of transcription, DNA-templated IEA --
GO:0006897 endocytosis --
GO:0006915 apoptotic process IDA 11788820
GO:0006919 activation of cysteine-type endopeptidase activity involved in apoptotic process IDA 11788820
genes like me logo Genes that share ontologies with HIP1: view

Compounds for HIP1 Gene

(5) Novoseek inferred chemical compound relationships for HIP1 Gene

Compound -log(P) Hits PubMed IDs
glutamine 47.6 4
inositol 38.4 3
tyrosine 25 6
phenylalanine 18.6 1
lipid 0 2
genes like me logo Genes that share compounds with HIP1: view

Transcripts for HIP1 Gene

mRNA/cDNA for HIP1 Gene

(10) Additional mRNA sequences :
(5) REFSEQ mRNAs :
(6) Selected AceView cDNA sequences:
(7) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for HIP1 Gene

Huntingtin interacting protein 1:
Representative Sequences:

CRISPR Products

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for HIP1

Primer Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for HIP1 Gene

No ASD Table

Relevant External Links for HIP1 Gene

GeneLoc Exon Structure for
HIP1
ECgene alternative splicing isoforms for
HIP1

Expression for HIP1 Gene

mRNA expression in normal human tissues for HIP1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for HIP1 Gene

SOURCE GeneReport for Unigene cluster for HIP1 Gene Hs.329266

mRNA Expression by UniProt/SwissProt for HIP1 Gene

O00291-HIP1_HUMAN
Tissue specificity: Ubiquitously expressed with the highest level in brain. Expression is up-regulated in prostate and colon cancer.
genes like me logo Genes that share expressions with HIP1: view

In Situ Assay Products

No data available for mRNA differential expression in normal tissues for HIP1 Gene

Orthologs for HIP1 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for HIP1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia HIP1 35
  • 99.77 (n)
  • 99.71 (a)
HIP1 36
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia HIP1 35
  • 87.4 (n)
  • 87.95 (a)
HIP1 36
  • 88 (a)
OneToOne
dog
(Canis familiaris)
Mammalia HIP1 35
  • 88.22 (n)
  • 90.54 (a)
HIP1 36
  • 90 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Hip1 35
  • 84.87 (n)
  • 88.63 (a)
Hip1 16
Hip1 36
  • 89 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia HIP1 36
  • 80 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia HIP1 36
  • 76 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Hip1 35
  • 85.46 (n)
  • 88.44 (a)
chicken
(Gallus gallus)
Aves HIP1 35
  • 76.4 (n)
  • 80.14 (a)
HIP1 36
  • 78 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia HIP1 36
  • 59 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia hip1 35
  • 68.58 (n)
  • 71.68 (a)
zebrafish
(Danio rerio)
Actinopterygii hip1 35
  • 66.86 (n)
  • 69.25 (a)
hip1 36
  • 67 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta Hip1 36
  • 27 (a)
OneToMany
CG10971 37
  • 30 (a)
worm
(Caenorhabditis elegans)
Secernentea hipr-1 35
  • 44.74 (n)
  • 37.21 (a)
tag-138 36
  • 35 (a)
ManyToMany
ZK370.3a 37
  • 31 (a)
ZK370.3b 37
  • 31 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes SLA2 36
  • 21 (a)
OneToMany
bread mold
(Neurospora crassa)
Ascomycetes NCU11202 35
  • 44.68 (n)
  • 31.39 (a)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes end4 35
  • 42.44 (n)
  • 31.04 (a)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.11706 35
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 52 (a)
ManyToMany
-- 36
  • 63 (a)
ManyToMany
Species with no ortholog for HIP1:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for HIP1 Gene

ENSEMBL:
Gene Tree for HIP1 (if available)
TreeFam:
Gene Tree for HIP1 (if available)

Paralogs for HIP1 Gene

Paralogs for HIP1 Gene

Selected SIMAP similar genes for HIP1 Gene using alignment to 5 proteins:

genes like me logo Genes that share paralogs with HIP1: view

Variants for HIP1 Gene

Sequence variations from dbSNP and Humsavar for HIP1 Gene

SNP ID Clin Chr 07 pos Sequence Context AA Info Type MAF
rs1052 -- 75,710,916(+) AAAAA(C/T)CCTCT intron-variant
rs189359 -- 75,588,009(+) GCCTC(C/T)TTGGT intron-variant
rs237229 -- 75,587,121(+) TTTTT(A/G)CTAGA intron-variant
rs237230 -- 75,586,352(-) ggtga(C/T)gcatg intron-variant
rs237231 -- 75,585,640(-) GGGAG(G/T)CGGGC intron-variant

Structural Variations from Database of Genomic Variants (DGV) for HIP1 Gene

Variant ID Type Subtype PubMed ID
nsv888381 CNV Gain 21882294
nsv528969 CNV Gain 19592680
dgv2102e1 CNV Complex 17122850
essv14753 CNV CNV 17122850
dgv120n16 CNV Deletion 17901297
nsv831036 CNV Loss 17160897
nsv518028 CNV Gain 19592680
nsv523858 CNV Loss 19592680
esv2674202 CNV Deletion 23128226
nsv509209 CNV Insertion 20534489
nsv888383 CNV Loss 21882294
esv2734673 CNV Deletion 23290073
esv2734674 CNV Deletion 23290073
nsv509210 CNV Insertion 20534489
esv2734675 CNV Deletion 23290073
esv2734676 CNV Deletion 23290073
esv1647869 CNV Deletion 17803354
nsv366198 CNV Loss 16902084
nsv888384 CNV Loss 21882294
nsv464564 CNV Gain 19166990
nsv888385 CNV Loss 21882294
nsv528166 CNV Gain 19592680
nsv527399 CNV Gain 19592680
esv22251 CNV Gain 19812545
esv2421823 CNV Duplication 20811451
nsv441991 CNV CNV 18776908
esv2667226 CNV Deletion 23128226
nsv515696 CNV Gain 19592680
nsv818517 CNV Gain 17921354

Relevant External Links for HIP1 Gene

HapMap Linkage Disequilibrium report
HIP1
Human Gene Mutation Database (HGMD)
HIP1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for HIP1 Gene

Disorders for HIP1 Gene

MalaCards: The human disease database

MalaCards: The human disease database. (1) Diseases for HIP1 Gene including...

Search for HIP1 Gene in MalaCards »

(1) OMIM Diseases for HIP1 Gene (601767)

UniProtKB/Swiss-Prot

HIP1_HUMAN
  • Note=A chromosomal aberration involving HIP1 is found in a form of chronic myelomonocytic leukemia (CMML). Translocation t(5;7)(q33;q11.2) with PDGFRB. The chimeric HIP1-PDGFRB transcript results from an in-frame fusion of the two genes. The reciprocal PDGFRB-HIP1 transcript is not expressed.

(1) University of Copenhagen DISEASES for HIP1 Gene

(5) Novoseek inferred disease relationships for HIP1 Gene

Disease -log(P) Hits PubMed IDs
huntington disease 77.5 6
leukemia myelomonocytic chronic 75 3
prostate cancer 5.95 5
tumors 0 6
cancer 0 4

Relevant External Links for HIP1

Genetic Association Database (GAD)
HIP1
Human Genome Epidemiology (HuGE) Navigator
HIP1
genes like me logo Genes that share disorders with HIP1: view

Publications for HIP1 Gene

  1. HIP1, a human homologue of S. cerevisiae Sla2p, interacts with membrane-associated huntingtin in the brain. (PMID: 9140394) Kalchman M.A. … Hayden M.R. (Nat. Genet. 1997) 2 3 4 23
  2. HIP-I: a huntingtin interacting protein isolated by the yeast two- hybrid system. (PMID: 9147654) Wanker E.E. … Lehrach H. (Hum. Mol. Genet. 1997) 2 3 4 23
  3. Fusion of Huntingtin interacting protein 1 to platelet-derived growth factor beta receptor (PDGFbetaR) in chronic myelomonocytic leukemia with t(5;7)(q33;q11.2). (PMID: 9616134) Ross T.S. … Gilliland D.G. (Blood 1998) 3 4 23
  4. Huntingtin interacting protein 1 induces apoptosis via a novel caspase-dependent death effector domain. (PMID: 11007801) Hackam A.S. … Hayden M.R. (J. Biol. Chem. 2000) 3 4 23
  5. HIP1 functions in clathrin-mediated endocytosis through binding to clathrin and adaptor protein 2. (PMID: 11517213) Metzler M. … Hayden M.R. (J. Biol. Chem. 2001) 3 4 23

Products for HIP1 Gene

  • Addgene plasmids for HIP1

Sources for HIP1 Gene

Back to Top

Content