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Aliases for HIKESHI Gene

Aliases for HIKESHI Gene

  • Hikeshi, Heat Shock Protein Nuclear Import Factor 2 3 5
  • C11orf73 3 4
  • Chromosome 11 Open Reading Frame 73 2
  • Lethal, Chr 7, Rinchik 6 3
  • Protein Hikeshi 3
  • HSPC138 3
  • HSPC179 3
  • HLD13 3
  • L7RN6 3
  • OPI10 3

External Ids for HIKESHI Gene

Previous HGNC Symbols for HIKESHI Gene

  • C11orf73

Summaries for HIKESHI Gene

Entrez Gene Summary for HIKESHI Gene

  • This gene encodes an evolutionarily conserved nuclear transport receptor that mediates heat-shock-induced nuclear import of 70 kDa heat-shock proteins (Hsp70s) through interactions with FG-nucleoporins. The protein mediates transport of the ATP form but not the ADP form of Hsp70 proteins under conditions of heat shock stress. Structural analyses demonstrate that the protein forms an asymmetric homodimer and that the N-terminal domain consists of a jelly-roll/beta-sandwich fold structure that contains hydrophobic pockets involved in FG-nucleoporin recognition. Reduction of RNA expression levels in HeLa cells using small interfering RNAs results in inhibition of heat shock-induced nuclear accumulation of Hsp70s, indicating a role for this gene in regulation of Hsp70 nuclear import during heat shock stress. [provided by RefSeq, Apr 2016]

GeneCards Summary for HIKESHI Gene

HIKESHI (Hikeshi, Heat Shock Protein Nuclear Import Factor) is a Protein Coding gene. Diseases associated with HIKESHI include Leukodystrophy, Hypomyelinating, 13 and Hypomyelinating Leukoencephalopathy. Among its related pathways are Cellular response to heat stress and Cellular Senescence (REACTOME).

UniProtKB/Swiss-Prot for HIKESHI Gene

  • Acts as a specific nuclear import carrier for HSP70 proteins following heat-shock stress: acts by mediating the nucleoporin-dependent translocation of ATP-bound HSP70 proteins into the nucleus. HSP70 proteins import is required to protect cells from heat shock damages. Does not translocate ADP-bound HSP70 proteins into the nucleus.

Gene Wiki entry for HIKESHI Gene

Additional gene information for HIKESHI Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for HIKESHI Gene

Genomics for HIKESHI Gene

GeneHancer (GH) Regulatory Elements for HIKESHI Gene

Promoters and enhancers for HIKESHI 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
GH11J086301 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 656.5 +0.3 334 1.9 HDGF FOXA2 SMAD1 ARNT ARID4B SIN3A DMAP1 ZBTB7B YY1 SLC30A9 HIKESHI EED CREBZF RN7SL225P
GH11J086243 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 23.3 -57.2 -57151 3.7 CLOCK ZFP64 FEZF1 DMAP1 IRF4 YY1 ZNF213 E2F8 ZNF143 SP3 EED CREBZF HIKESHI MIR6755
GH11J086218 Enhancer 1.3 FANTOM5 Ensembl ENCODE 18.8 -82.9 -82927 2.3 HDGF PKNOX1 ATF1 SIN3A YBX1 IRF4 ZNF48 YY1 ARID2 ZNF143 HIKESHI EED PICALM RNU6-560P CCDC81 ENSG00000276669
GH11J086182 Enhancer 1.6 FANTOM5 Ensembl ENCODE dbSUPER 10 -118.3 -118333 3.8 HDGF PKNOX1 ATF1 SMAD1 ARNT TCF12 POLR2B GATA2 E2F8 ARID2 EED LOC100289518 CREBZF PICALM RNU6-560P HIKESHI ENSG00000254699
GH11J086374 Promoter/Enhancer 1.2 EPDnew Ensembl ENCODE 10.7 +72.5 72495 0.6 CTCF USF1 MAX SIN3A CCDC81 HIKESHI LOC105369421
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around HIKESHI on UCSC Golden Path with GeneCards custom track

Genomic Locations for HIKESHI Gene

Genomic Locations for HIKESHI Gene
chr11:86,302,211-86,345,943
(GRCh38/hg38)
Size:
43,733 bases
Orientation:
Plus strand
chr11:86,013,253-86,056,985
(GRCh37/hg19)
Size:
43,733 bases
Orientation:
Plus strand

Genomic View for HIKESHI Gene

Genes around HIKESHI on UCSC Golden Path with GeneCards custom track

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

RefSeq DNA sequence for HIKESHI Gene

Proteins for HIKESHI Gene

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

    Protein Symbol:
    Q53FT3-HIKES_HUMAN
    Recommended name:
    Protein Hikeshi
    Protein Accession:
    Q53FT3
    Secondary Accessions:
    • Q8WVE8
    • Q9NVQ2
    • Q9NZZ1
    • Q9P022
    • Q9P0N1

    Protein attributes for HIKESHI Gene

    Size:
    197 amino acids
    Molecular mass:
    21628 Da
    Quaternary structure:
    • Forms an asymmetric homodimer; required for binding and nuclear import of HSP70 proteins (PubMed:25760597). Interacts with ATP-bound HSP70 proteins (PubMed:22541429). Interacts with NUP62 and NUP153 (via F-X-F-G repeats) (PubMed:22541429). Interacts with HSPA8 (PubMed:25760597).
    Miscellaneous:
    • Hikeshi is a traditional Japanese compound word used for a firefighter, smokejumper, or troubleshooter.
    SequenceCaution:
    • Sequence=AAF29102.1; Type=Frameshift; Positions=62, 68; Evidence={ECO:0000305}; Sequence=AAF29142.1; Type=Frameshift; Positions=9, 57; Evidence={ECO:0000305}; Sequence=AAF36168.1; Type=Frameshift; Positions=67; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for HIKESHI Gene

neXtProt entry for HIKESHI Gene

Post-translational modifications for HIKESHI Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for HIKESHI Gene

Domains & Families for HIKESHI Gene

Gene Families for HIKESHI Gene

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

Protein Domains for HIKESHI Gene

InterPro:
ProtoNet:

Graphical View of Domain Structure for InterPro Entry

Q53FT3

UniProtKB/Swiss-Prot:

HIKES_HUMAN :
  • Belongs to the OPI10 family.
Family:
  • Belongs to the OPI10 family.
genes like me logo Genes that share domains with HIKESHI: view

No data available for Suggested Antigen Peptide Sequences for HIKESHI Gene

Function for HIKESHI Gene

Molecular function for HIKESHI Gene

UniProtKB/Swiss-Prot Function:
Acts as a specific nuclear import carrier for HSP70 proteins following heat-shock stress: acts by mediating the nucleoporin-dependent translocation of ATP-bound HSP70 proteins into the nucleus. HSP70 proteins import is required to protect cells from heat shock damages. Does not translocate ADP-bound HSP70 proteins into the nucleus.
UniProtKB/Swiss-Prot Induction:
Following heat-shock treatment.

Phenotypes From GWAS Catalog for HIKESHI Gene

Gene Ontology (GO) - Molecular Function for HIKESHI Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008565 protein transporter activity IDA 22541429
GO:0030544 Hsp70 protein binding IDA 22541429
genes like me logo Genes that share ontologies with HIKESHI: view
genes like me logo Genes that share phenotypes with HIKESHI: view

Human Phenotype Ontology for HIKESHI Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for HIKESHI Gene

Localization for HIKESHI Gene

Subcellular locations from UniProtKB/Swiss-Prot for HIKESHI Gene

Cytoplasm. Cytoplasm, cytosol. Nucleus.

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 HIKESHI gene
Compartment Confidence
extracellular 5
nucleus 5
cytosol 5
plasma membrane 1
mitochondrion 1

Gene Ontology (GO) - Cellular Components for HIKESHI Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005622 intracellular IDA 22541429
GO:0005634 nucleus IDA,IEA 22541429
GO:0005654 nucleoplasm TAS --
GO:0005737 cytoplasm IEA --
GO:0005829 cytosol TAS --
genes like me logo Genes that share ontologies with HIKESHI: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for HIKESHI Gene

Pathways & Interactions for HIKESHI Gene

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

Pathways by source for HIKESHI Gene

Gene Ontology (GO) - Biological Process for HIKESHI Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006606 protein import into nucleus IDA 22541429
GO:0007030 Golgi organization IEA --
GO:0015031 protein transport IDA,IEA 22541429
GO:0030324 lung development IEA --
GO:0034605 cellular response to heat IDA 22541429
genes like me logo Genes that share ontologies with HIKESHI: view

No data available for SIGNOR curated interactions for HIKESHI Gene

Drugs & Compounds for HIKESHI Gene

No Compound Related Data Available

Transcripts for HIKESHI Gene

Clone Products

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

No ASD Table

Relevant External Links for HIKESHI Gene

GeneLoc Exon Structure for
HIKESHI
ECgene alternative splicing isoforms for
HIKESHI

Expression for HIKESHI Gene

NURSA nuclear receptor signaling pathways regulating expression of HIKESHI Gene:

HIKESHI

Evidence on tissue expression from TISSUES for HIKESHI Gene

  • Nervous system(4.6)
  • Kidney(4.2)
  • Lung(4.2)
  • Blood(4.1)
No Expression Related Data Available

No data available for mRNA expression in normal human tissues , mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for HIKESHI Gene

Orthologs for HIKESHI Gene

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

Orthologs for HIKESHI Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia C11H11ORF73 34
  • 100 (a)
OneToOne
C11H11orf73 33
  • 99.83 (n)
dog
(Canis familiaris)
Mammalia C11orf73 34
  • 98 (a)
OneToOne
C21H11orf73 33
  • 96.95 (n)
cow
(Bos Taurus)
Mammalia C29H11orf73 34 33
  • 96.11 (n)
OneToOne
mouse
(Mus musculus)
Mammalia l7Rn6 34 33
  • 93.06 (n)
OneToOne
Hikeshi 16
rat
(Rattus norvegicus)
Mammalia l7Rn6 33
  • 92.83 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia C11orf73 34
  • 87 (a)
OneToOne
chicken
(Gallus gallus)
Aves C1H11ORF73 34 33
  • 80.88 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia C11orf73 34
  • 86 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia c11orf73 33
  • 76.31 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.6804 33
zebrafish
(Danio rerio)
Actinopterygii C1H11orf73 34
  • 72 (a)
OneToOne
zgc:110091 33
  • 66.5 (n)
wufj34d09 33
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.1040 33
African malaria mosquito
(Anopheles gambiae)
Insecta OPI10_ANOGA 33
  • 52.18 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG13926 34 33
  • 49.38 (n)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea F42A6.6 34
  • 31 (a)
OneToOne
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes SPBC21H7.06c 33
  • 53.73 (n)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.6719 34
  • 42 (a)
OneToOne
Species where no ortholog for HIKESHI was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • 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)
  • 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)
  • oppossum (Monodelphis domestica)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • 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 HIKESHI Gene

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

Paralogs for HIKESHI Gene

Pseudogenes.org Pseudogenes for HIKESHI Gene

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

No data available for Paralogs for HIKESHI Gene

Variants for HIKESHI Gene

Sequence variations from dbSNP and Humsavar for HIKESHI Gene

SNP ID Clin Chr 11 pos Variation AA Info Type
rs202003795 pathogenic, Leukodystrophy, hypomyelinating, 13, Leukodystrophy, hypomyelinating, 13 (HLD13) [MIM:616881] 86,306,374(+) G/C coding_sequence_variant, intron_variant, missense_variant, non_coding_transcript_variant
rs1057520064 likely-pathogenic, not provided 86,306,244(+) G/T intron_variant, splice_acceptor_variant
rs1000070503 -- 86,323,334(+) G/C intron_variant
rs1000117490 -- 86,335,662(+) T/G intron_variant
rs1000153503 -- 86,313,203(+) C/A intron_variant

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

Variant ID Type Subtype PubMed ID
nsv1069613 CNV deletion 25765185
nsv1124620 CNV deletion 24896259
nsv1127216 CNV deletion 24896259
nsv508643 CNV deletion 20534489
nsv518588 CNV loss 19592680
nsv519914 CNV loss 19592680
nsv832223 CNV loss 17160897

Variation tolerance for HIKESHI Gene

Residual Variation Intolerance Score: 49.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.30; 6.70% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for HIKESHI Gene

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

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

Disorders for HIKESHI Gene

MalaCards: The human disease database

(2) MalaCards diseases for HIKESHI Gene - From: HGMD, OMIM, ClinVar, Orphanet, Swiss-Prot, DISEASES, and GeneCards

- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

HIKES_HUMAN
  • Leukodystrophy, hypomyelinating, 13 (HLD13) [MIM:616881]: An autosomal recessive neurodegenerative disorder with infantile onset, affecting mainly the central white matter. Clinical features include early feeding difficulties, global developmental delay, postnatal progressive microcephaly, truncal hypotonia, spasticity, and variable neurologic deficits, such as visual impairment. {ECO:0000269 PubMed:26545878}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for HIKESHI

genes like me logo Genes that share disorders with HIKESHI: view

No data available for Genatlas for HIKESHI Gene

Publications for HIKESHI Gene

  1. Hikeshi, a nuclear import carrier for Hsp70s, protects cells from heat shock-induced nuclear damage. (PMID: 22541429) Kose S … Imamoto N (Cell 2012) 2 3 4 58
  2. Cloning and functional analysis of cDNAs with open reading frames for 300 previously undefined genes expressed in CD34+ hematopoietic stem/progenitor cells. (PMID: 11042152) Zhang QH … Chen Z (Genome research 2000) 2 3 4 58
  3. Leukoencephalopathy and early death associated with an Ashkenazi-Jewish founder mutation in the Hikeshi gene. (PMID: 26545878) Edvardson S … Elpeleg O (Journal of medical genetics 2016) 3 4 58
  4. Structural and functional analysis of Hikeshi, a new nuclear transport receptor of Hsp70s. (PMID: 25760597) Song J … Lee SJ (Acta crystallographica. Section D, Biological crystallography 2015) 3 4 58
  5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 58

Products for HIKESHI Gene

Sources for HIKESHI Gene

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