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Aliases for HIP1R Gene

Aliases for HIP1R Gene

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

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. Among its related pathways are Vesicle-mediated transport and Clathrin derived vesicle budding. GO annotations related to this gene include actin binding and phosphatidylinositol binding. An important paralog of this gene is HIP1.

UniProtKB/Swiss-Prot 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 , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for HIP1R Gene

Genomics for HIP1R Gene

Regulatory Elements for HIP1R Gene

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for HIP1R Gene

Chromosome:
12
Start:
122,834,453 bp from pter
End:
122,862,961 bp from pter
Size:
28,509 bases
Orientation:
Plus strand

Genomic View for HIP1R Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
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

Proteomics data for HIP1R Gene at MOPED

Post-translational modifications for HIP1R Gene

  • Ubiquitination at Lys 5 and Lys 146
  • Modification sites at PhosphoSitePlus

Other Protein References for HIP1R Gene

Antibody Products

  • Cloud-Clone Corp. Antibodies for HIP1R

No data available for DME Specific Peptides for HIP1R Gene

Domains & Families for HIP1R Gene

Suggested Antigen Peptide Sequences for HIP1R Gene

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
  • 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 HIP1R: view

No data available for Gene Families for HIP1R Gene

Function for HIP1R Gene

Molecular function for HIP1R Gene

GENATLAS Biochemistry:
Huntingtin interacting protein 1 related,ubiquitously expressed
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.

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 --
GO:0030276 clathrin binding IEA --
GO:0035091 phosphatidylinositol binding IDA 14732715
genes like me logo Genes that share ontologies with HIP1R: view

Phenotypes for HIP1R Gene

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

Animal Models for HIP1R Gene

MGI Knock Outs for HIP1R:

Animal Model Products

miRNA for HIP1R Gene

No data available for Enzyme Numbers (IUBMB) , 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
Jensen Localization Image for HIP1R Gene COMPARTMENTS Subcellular localization image for HIP1R gene
Compartment Confidence
cytoskeleton 2
cytosol 2
plasma membrane 2
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for HIP1R Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IDA --
GO:0005856 cytoskeleton IEA --
GO:0005905 coated pit IEA --
GO:0016020 membrane --
GO:0030136 clathrin-coated vesicle IDA 11889126
genes like me logo Genes that share ontologies with HIP1R: view

Pathways & Interactions for HIP1R Gene

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

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:0006898 receptor-mediated endocytosis IMP 11889126
GO:0006915 apoptotic process IEA --
GO:0072583 clathrin-mediated endocytosis IEA --
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
Inositol Nutra 65
genes like me logo Genes that share compounds with HIP1R: view

Transcripts for HIP1R Gene

mRNA/cDNA for HIP1R Gene

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

Unigene Clusters for HIP1R Gene

Huntingtin interacting protein 1 related:
Representative Sequences:

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for HIP1R

Flow Cytometry Products

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
ECgene alternative splicing isoforms for
HIP1R

Expression for HIP1R Gene

mRNA expression in normal human tissues 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, PaxDb, MOPED, and MaxQB for HIP1R Gene



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
genes like me logo Genes that share expression patterns with HIP1R: view

Protein tissue co-expression partners for HIP1R Gene

Primer Products

  • QuantiTect SYBR Green Assays in human,mouse,rat
  • Pre-validated RT² qPCR Primer Assay in human,mouse,rat
  • QuantiFast Probe-based Assays in human,mouse,rat

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA differential expression in normal tissues 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
cow
(Bos Taurus)
Mammalia HIP1R 35
  • 89.12 (n)
  • 91.37 (a)
HIP1R 36
  • 90 (a)
OneToOne
dog
(Canis familiaris)
Mammalia HIP1R 35
  • 87.91 (n)
  • 89.49 (a)
HIP1R 36
  • 88 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Hip1r 35
  • 86.89 (n)
  • 90.92 (a)
Hip1r 16
Hip1r 36
  • 91 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia HIP1R 35
  • 98.37 (n)
  • 97.83 (a)
HIP1R 36
  • 97 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Hip1r 35
  • 87.08 (n)
  • 91.95 (a)
oppossum
(Monodelphis domestica)
Mammalia HIP1R 36
  • 76 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia HIP1R 36
  • 82 (a)
OneToOne
chicken
(Gallus gallus)
Aves HIP1R 35
  • 77.63 (n)
  • 78.69 (a)
HIP1R 36
  • 79 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia HIP1R 36
  • 77 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia hip1r 35
  • 67.39 (n)
  • 72.27 (a)
Str.16702 35
zebrafish
(Danio rerio)
Actinopterygii hip1rb 35
  • 64.31 (n)
  • 63.25 (a)
HIP1R (2 of 2) 36
  • 45 (a)
OneToMany
hip1rb 36
  • 62 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta Hip1 36
  • 27 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea tag-138 36
  • 35 (a)
ManyToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes SLA2 36
  • 21 (a)
OneToMany
SLA2 38
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 45 (a)
ManyToMany
-- 36
  • 56 (a)
ManyToMany
Species with no ortholog for HIP1R:
  • 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)
  • 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 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)

Paralogs for HIP1R Gene

Paralogs for HIP1R Gene

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

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

Variants for HIP1R Gene

Sequence variations from dbSNP and Humsavar for HIP1R Gene

SNP ID Clin Chr 12 pos Sequence Context AA Info Type MAF
rs897384 -- 122,846,797(-) GAGCT(A/G)GGGGA intron-variant
rs897385 -- 122,856,750(-) CCACC(C/T)CCAGT intron-variant
rs897386 -- 122,856,742(-) AGTCA(G/T)CAAAG intron-variant
rs897388 -- 122,833,845(-) TCACT(C/G)CACCA upstream-variant-2KB
rs897390 -- 122,845,143(-) CAGGC(A/G)CTCGG intron-variant

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

Variant ID Type Subtype PubMed ID
nsv899571 CNV Loss 21882294
dgv1497n71 CNV Loss 21882294
nsv517200 CNV Loss 19592680
dgv1498n71 CNV Loss 21882294
esv2746501 CNV Deletion 23290073
nsv52669 CNV Loss 16902084
esv1005186 CNV Deletion 20482838
esv1123331 CNV Deletion 17803354
nsv52581 CNV Loss 16902084
nsv7239 OTHER Inversion 18451855

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)

Relevant External Links for HIP1R Gene

HapMap Linkage Disequilibrium report
HIP1R

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

Disorders for HIP1R Gene

Relevant External Links for HIP1R

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

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

Publications for HIP1R Gene

  1. HIP1R interacts with a member of Bcl-2 family, BCL2L10, and induces BAK-dependent cell death. (PMID: 19255499) Kim J.H. … Bae J. (Cell. Physiol. Biochem. 2009) 23 67
  2. Clathrin light chains function in mannose phosphate receptor trafficking via regulation of actin assembly. (PMID: 18165318) Poupon V. … McPherson P.S. (Proc. Natl. Acad. Sci. U.S.A. 2008) 23 67
  3. Analyzing protein-protein spatial-temporal dependencies from image sequences using fuzzy temporal random sets. (PMID: 18973437) DA-az M.E. … Toomre D. (J. Comput. Biol. 2008) 23 67
  4. A Hip1R-cortactin complex negatively regulates actin assembly associated with endocytosis. (PMID: 17318189) Le Clainche C. … Drubin D.G. (EMBO J. 2007) 23 67
  5. Degenerative phenotypes caused by the combined deficiency of murine HIP1 and HIP1r are rescued by human HIP1. (PMID: 17452370) Bradley S.V. … Ross T.S. (Hum. Mol. Genet. 2007) 23 67

Products for HIP1R Gene

Sources for HIP1R Gene

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