Aliases for HIP1R Gene

Aliases for HIP1R Gene

  • Huntingtin Interacting Protein 1 Related 2 3 5
  • HIP12 2 3 4
  • Huntingtin-Interacting Protein 1-Related Protein 3 4
  • HIP1-Related Protein 3 4
  • KIAA0655 2 4
  • HIP-12 3 4
  • ILWEQ 2 3
  • HIP3 2 3
  • Huntingtin Interacting Protein 12 3
  • Huntingtin-Interacting Protein 12 4
  • FLJ14000 2
  • HIP1R 5

External Ids for HIP1R Gene

Previous GeneCards Identifiers for HIP1R Gene

  • GC12P122029
  • GC12M122922
  • GC12P123127
  • GC12P121757
  • GC12P121844
  • GC12P123319
  • GC07M021782

Summaries for HIP1R Gene

GeneCards Summary for HIP1R Gene

HIP1R (Huntingtin Interacting Protein 1 Related) is a Protein Coding gene. Diseases associated with HIP1R include Mental Retardation, Autosomal Dominant 56 and Cataract 8, Multiple Types. Among its related pathways are Clathrin derived vesicle budding and Vesicle-mediated transport. Gene Ontology (GO) annotations related to this gene include actin binding and phosphatidylinositol binding. An important paralog of this gene is HIP1.

UniProtKB/Swiss-Prot Summary for HIP1R Gene

  • Component of clathrin-coated pits and vesicles, that may link the endocytic machinery to the actin cytoskeleton. 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.

Gene Wiki entry for HIP1R Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for HIP1R Gene

Genomics for HIP1R Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for HIP1R Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH12J122834 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 607.5 +4.2 4246 9.4 ARHGAP35 HNRNPL CREB1 ZBTB33 PRDM10 ZNF629 REST ZNF512 IKZF1 KDM1A HIP1R VPS37B ATP6V0A2 TCTN2 ABCB9 B3GNT4 piR-39703
GH12J122870 Promoter/Enhancer 1.5 Ensembl ENCODE CraniofacialAtlas dbSUPER 12 +37.8 37795 4.3 TEAD4 FOXA1 ZIC2 POLR2A IKZF2 SP1 ZNF600 ZNF341 SCRT2 EED VPS37B HIP1R CCDC62 B3GNT4 piR-46783 ENSG00000280138 lnc-ABCB9-2
GH12J122866 Enhancer 1.3 FANTOM5 Ensembl ENCODE dbSUPER 12 +33.3 33316 2.7 HNRNPL GATAD2A CTCF POLR2A RXRB REST IRF2 SP1 ZNF600 CEBPA piR-46783 piR-48687 VPS37B HIP1R CCDC62 PITPNM2 B3GNT4 ENSG00000256152
GH12J122793 Enhancer 0.9 Ensembl ENCODE 12.5 -40.5 -40546 0.6 CTCF REST RAD21 TRIM22 TCF12 EP300 HMBOX1 ZNF316 MAFF SMC3 VPS37B HIP1R CCDC62 HCAR1 PITPNM2
GH12J122865 Enhancer 0.9 ENCODE dbSUPER 12 +31.5 31509 0.4 HNRNPL REST CTCF POLR2A PKNOX1 SP1 SCRT2 MNT SMARCA5 YY1 ENSG00000256152 piR-48687 VPS37B HIP1R CCDC62
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around HIP1R on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for HIP1R

Top Transcription factor binding sites by QIAGEN in the HIP1R gene promoter:
  • AML1a
  • AREB6
  • Cart-1
  • E4BP4
  • HSF1 (long)
  • HSF1short
  • NF-E2
  • NF-E2 p45
  • RSRFC4
  • S8

Genomic Locations for HIP1R Gene

Genomic Locations for HIP1R Gene
chr12:122,834,453-122,862,961
(GRCh38/hg38)
Size:
28,509 bases
Orientation:
Plus strand
chr12:123,319,000-123,347,507
(GRCh37/hg19)
Size:
28,508 bases
Orientation:
Plus strand

Genomic View for HIP1R Gene

Genes around HIP1R on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
HIP1R Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for HIP1R Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for HIP1R Gene

Proteins for HIP1R Gene

  • Protein details for HIP1R Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O75146-HIP1R_HUMAN
    Recommended name:
    Huntingtin-interacting protein 1-related protein
    Protein Accession:
    O75146
    Secondary Accessions:
    • A6NHQ6
    • Q6NXG8
    • Q9UED9

    Protein attributes for HIP1R Gene

    Size:
    1068 amino acids
    Molecular mass:
    119388 Da
    Quaternary structure:
    • Interacts with actin. Does not interact with huntingtin (By similarity). Interacts with CLTB and HIP1. Homodimer. Homodimerization promotes actin binding.
    SequenceCaution:
    • Sequence=BAA31630.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for HIP1R Gene

    Alternative splice isoforms for HIP1R Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for HIP1R Gene

Post-translational modifications for HIP1R Gene

  • Ubiquitination at Lys5 and Lys146
  • Modification sites at PhosphoSitePlus

Other Protein References for HIP1R Gene

No data available for DME Specific Peptides for HIP1R Gene

Domains & Families for HIP1R Gene

Gene Families for HIP1R Gene

Human Protein Atlas (HPA):
  • Cancer-related genes
  • Predicted intracellular proteins

Protein Domains for HIP1R Gene

InterPro:
Blocks:
  • I/LWEQ domain
  • Epsin N-terminal homology
  • Epsin-like, N-terminal
ProtoNet:

Suggested Antigen Peptide Sequences for HIP1R Gene

GenScript: Design optimal peptide antigens:
  • Huntingtin-interacting protein 12 (HIP1R_HUMAN)
  • HIP1R protein (Q6NXG8_HUMAN)

Graphical View of Domain Structure for InterPro Entry

O75146

UniProtKB/Swiss-Prot:

HIP1R_HUMAN :
  • Binds F-actin via the talin-like I/LWEQ domain.
  • Belongs to the SLA2 family.
Domain:
  • Binds F-actin via the talin-like I/LWEQ domain.
Family:
  • Belongs to the SLA2 family.
genes like me logo Genes that share domains with HIP1R: view

Function for HIP1R Gene

Molecular function for HIP1R Gene

UniProtKB/Swiss-Prot Function:
Component of clathrin-coated pits and vesicles, that may link the endocytic machinery to the actin cytoskeleton. 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.
GENATLAS Biochemistry:
Huntingtin interacting protein 1 related,ubiquitously expressed

Phenotypes From GWAS Catalog for HIP1R Gene

Gene Ontology (GO) - Molecular Function for HIP1R Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003779 actin binding IEA --
GO:0005515 protein binding IPI 11889126
GO:0005543 phospholipid binding IEA --
GO:0005546 phosphatidylinositol-4,5-bisphosphate binding IDA 14732715
GO:0005547 phosphatidylinositol-3,4,5-trisphosphate binding IDA 14732715
genes like me logo Genes that share ontologies with HIP1R: view
genes like me logo Genes that share phenotypes with HIP1R: view

Animal Models for HIP1R Gene

MGI Knock Outs for HIP1R:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for HIP1R

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for HIP1R Gene

Localization for HIP1R Gene

Subcellular locations from UniProtKB/Swiss-Prot for HIP1R Gene

Cytoplasm, perinuclear region. Endomembrane system. Cytoplasmic vesicle, clathrin-coated vesicle membrane. Note=Membrane-associated protein, mainly localized at the endocytic compartments and in the perinuclear region.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for HIP1R gene
Compartment Confidence
plasma membrane 5
cytosol 5
cytoskeleton 3
mitochondrion 3
nucleus 2
endosome 2
golgi apparatus 2
extracellular 1
endoplasmic reticulum 1
lysosome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (3)
  • Vesicles (3)
  • Plasma membrane (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for HIP1R Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0005739 mitochondrion IEA --
GO:0005829 cytosol TAS --
GO:0005856 cytoskeleton IEA --
GO:0005886 plasma membrane IDA --
genes like me logo Genes that share ontologies with HIP1R: view

Pathways & Interactions for HIP1R Gene

PathCards logo

SuperPathways for HIP1R Gene

genes like me logo Genes that share pathways with HIP1R: view

Pathways by source for HIP1R Gene

2 GeneGo (Thomson Reuters) pathways for HIP1R Gene
  • Transport Clathrin-coated vesicle cycle
  • wtCFTR and delta508 traffic / Clathrin coated vesicles formation (norm and CF)

SIGNOR curated interactions for HIP1R Gene

Is inactivated by:

Gene Ontology (GO) - Biological Process for HIP1R Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006897 endocytosis IEA --
GO:0006898 receptor-mediated endocytosis IEA,IMP 11889126
GO:0006915 apoptotic process IEA --
GO:0006919 activation of cysteine-type endopeptidase activity involved in apoptotic process IDA 19255499
GO:0007015 actin filament organization IBA 21873635
genes like me logo Genes that share ontologies with HIP1R: view

Drugs & Compounds for HIP1R Gene

(1) Drugs for HIP1R Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
genes like me logo Genes that share compounds with HIP1R: view

Transcripts for HIP1R Gene

mRNA/cDNA for HIP1R Gene

3 REFSEQ mRNAs :
16 NCBI additional mRNA sequence :
10 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for HIP1R

Alternative Splicing Database (ASD) splice patterns (SP) for HIP1R Gene

ExUns: 1 ^ 2a · 2b ^ 3 ^ 4 ^ 5 ^ 6a · 6b ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17a · 17b ^ 18 ^ 19a · 19b · 19c ^ 20 ^ 21 ^
SP1: - - -
SP2: -
SP3: - -
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:

ExUns: 22a · 22b ^ 23 ^ 24 ^ 25 ^ 26 ^ 27a · 27b · 27c ^ 28a · 28b ^ 29 ^ 30 ^ 31 ^ 32a · 32b ^ 33a · 33b · 33c ^ 34
SP1:
SP2:
SP3: -
SP4: -
SP5:
SP6:
SP7: - - -
SP8:
SP9:

Relevant External Links for HIP1R Gene

GeneLoc Exon Structure for
HIP1R

Expression for HIP1R Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for HIP1R Gene

Protein differential expression in normal tissues from HIPED for HIP1R Gene

This gene is overexpressed in Brain (12.8), Islet of Langerhans (7.1), and Salivary gland (7.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for HIP1R Gene



Protein tissue co-expression partners for HIP1R Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for HIP1R

SOURCE GeneReport for Unigene cluster for HIP1R Gene:

Hs.524815

mRNA Expression by UniProt/SwissProt for HIP1R Gene:

O75146-HIP1R_HUMAN
Tissue specificity: Brain, heart, kidney, pancreas, and liver, but not in lung or placenta.

Evidence on tissue expression from TISSUES for HIP1R Gene

  • Pancreas(5)
  • Nervous system(4.8)
  • Lung(4.6)
  • Liver(4.4)
  • Blood(3.3)
  • Adrenal gland(2.6)
  • Skin(2.5)
  • Stomach(2.5)
  • Kidney(2.3)
  • Intestine(2.1)
genes like me logo Genes that share expression patterns with HIP1R: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for HIP1R Gene

Orthologs for HIP1R Gene

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

Orthologs for HIP1R Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia HIP1R 30 31
  • 98.37 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia HIP1R 30 31
  • 89.12 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia HIP1R 30 31
  • 87.91 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Hip1r 30
  • 87.08 (n)
Mouse
(Mus musculus)
Mammalia Hip1r 30 17 31
  • 86.89 (n)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia HIP1R 31
  • 82 (a)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia HIP1R 31
  • 76 (a)
OneToOne
Chicken
(Gallus gallus)
Aves HIP1R 30 31
  • 77.63 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia HIP1R 31
  • 77 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia hip1r 30
  • 67.39 (n)
Str.16702 30
Zebrafish
(Danio rerio)
Actinopterygii hip1rb 30 31
  • 64.31 (n)
OneToMany
HIP1R (2 of 2) 31
  • 45 (a)
OneToMany
Fruit Fly
(Drosophila melanogaster)
Insecta Hip1 31
  • 27 (a)
OneToMany
Worm
(Caenorhabditis elegans)
Secernentea tag-138 31
  • 35 (a)
ManyToMany
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes SLA2 31 33
  • 21 (a)
OneToMany
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 56 (a)
ManyToMany
-- 31
  • 45 (a)
ManyToMany
Species where no ortholog for HIP1R was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • 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 Vase (Ciona intestinalis)
  • 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 HIP1R Gene

ENSEMBL:
Gene Tree for HIP1R (if available)
TreeFam:
Gene Tree for HIP1R (if available)
Aminode:
Evolutionary constrained regions (ECRs) for HIP1R: view image

Paralogs for HIP1R Gene

Paralogs for HIP1R Gene

(1) SIMAP similar genes for HIP1R Gene using alignment to 3 proteins:

  • HIP1R_HUMAN
  • H0YH66_HUMAN
  • Q6NXG8_HUMAN
genes like me logo Genes that share paralogs with HIP1R: view

Variants for HIP1R Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for HIP1R Gene

SNP ID Clinical significance and condition Chr 12 pos Variation AA Info Type
708328 Likely Benign: not provided 122,857,219(+) T/C MISSENSE_VARIANT,INTRON_VARIANT
715523 Benign: not provided 122,858,159(+) C/T MISSENSE_VARIANT
723338 Likely Benign: not provided 122,859,139(+) G/A MISSENSE_VARIANT
742542 Likely Benign: not provided 122,859,764(+) G/C INTRON_VARIANT
768594 Benign: not provided 122,854,035(+) T/C INTRON_VARIANT

Additional dbSNP identifiers (rs#s) for HIP1R Gene

Structural Variations from Database of Genomic Variants (DGV) for HIP1R Gene

Variant ID Type Subtype PubMed ID
esv1005186 CNV deletion 20482838
esv1123331 CNV deletion 17803354
esv2746501 CNV deletion 23290073
nsv1069706 CNV deletion 25765185
nsv1070137 CNV deletion 25765185
nsv1136158 CNV deletion 24896259
nsv1139710 CNV deletion 24896259
nsv517200 CNV loss 19592680
nsv52581 CNV deletion 16902084
nsv52669 CNV deletion 16902084
nsv560490 CNV loss 21841781
nsv7239 OTHER inversion 18451855
nsv952498 CNV deletion 24416366

Variation tolerance for HIP1R Gene

Residual Variation Intolerance Score: 6.24% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 5.34; 70.74% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for HIP1R Gene

Human Gene Mutation Database (HGMD)
HIP1R
SNPedia medical, phenotypic, and genealogical associations of SNPs for
HIP1R

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for HIP1R Gene

Disorders for HIP1R Gene

MalaCards: The human disease database

(7) MalaCards diseases for HIP1R Gene - From: DISEASES

Disorder Aliases PubMed IDs
mental retardation, autosomal dominant 56
  • mrd56
cataract 8, multiple types
  • ctrct8
expressive language disorder
  • developmental expressive language disorder
gastritis, familial giant hypertrophic
  • menetrier disease
parkinson disease 21
  • park21
- elite association - COSMIC cancer census association via MalaCards
Search HIP1R in MalaCards View complete list of genes associated with diseases

Additional Disease Information for HIP1R

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
genes like me logo Genes that share disorders with HIP1R: view

No data available for UniProtKB/Swiss-Prot and Genatlas for HIP1R Gene

Publications for HIP1R Gene

  1. Structural definition of the F-actin-binding THATCH domain from HIP1R. (PMID: 16415883) Brett TJ … Fremont DH (Nature structural & molecular biology 2006) 2 3 4
  2. Huntingtin-interacting protein 1 (Hip1) and Hip1-related protein (Hip1R) bind the conserved sequence of clathrin light chains and thereby influence clathrin assembly in vitro and actin distribution in vivo. (PMID: 15533940) Chen CY … Brodsky FM (The Journal of biological chemistry 2005) 3 4 23
  3. HIP1 and HIP1r stabilize receptor tyrosine kinases and bind 3-phosphoinositides via epsin N-terminal homology domains. (PMID: 14732715) Hyun TS … Ross TS (The Journal of biological chemistry 2004) 3 4 23
  4. Cloning, expression analysis, and chromosomal localization of HIP1R, an isolog of huntingtin interacting protein (HIP1). (PMID: 9852681) Seki N … Saito T (Journal of human genetics 1998) 3 4 23
  5. Imputation of sequence variants for identification of genetic risks for Parkinson's disease: a meta-analysis of genome-wide association studies. (PMID: 21292315) International Parkinson Disease Genomics Consortium … Wood NW (Lancet (London, England) 2011) 3 41

Products for HIP1R Gene

Sources for HIP1R Gene