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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 Hypomyelinating Leukodystrophy 13 and Hypomyelinating Leukoencephalopathy. Among its related pathways are Cellular response to heat stress and Cellular Senescence.

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

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

Genomics for HIKESHI Gene

Regulatory Elements for HIKESHI Gene

Enhancers for HIKESHI Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH11F086243 0.5 ENCODE 23.2 -57.2 -57151 3.7 HDGF PKNOX1 ARNT CREB3L1 WRNIP1 ZFP64 ARID4B SIN3A FEZF1 DMAP1 HIKESHI CREBZF PRSS23 FZD4 CCDC89 EED MIR6755 LOC100289518
GH11F086218 1.3 FANTOM5 Ensembl ENCODE 18.8 -83.0 -82994 2.4 HDGF PKNOX1 ATF1 MLX WRNIP1 YBX1 ZNF48 YY1 ZNF143 SP5 HIKESHI MIR6755 EED PICALM RNU6-560P CCDC81 ENSG00000276669
GH11F086334 0.2 ENCODE 16.4 +33.0 32979 0.6 HMBOX1 FOS PRDM1 HIKESHI RN7SL225P LOC105369421
GH11F086335 0.2 ENCODE 16 +33.4 33383 0.2 HIKESHI RN7SL225P LOC105369421
GH11F086230 0.6 ENCODE 15.1 -71.8 -71815 0.2 CTCF SMARCC1 ZNF654 MIER2 REST ZNF644 RAD21 SMC3 ZBTB33 ZBTB20 HIKESHI RNU6-560P PICALM ENSG00000276669 EED MIR6755
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

Enhancers around HIKESHI on UCSC Golden Path with GeneCards custom track

Promoters for HIKESHI Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000566561 489 2200 HDGF ARNT CREB3L1 ARID4B SIN3A DMAP1 YY1 SLC30A9 ZNF207 ZNF143

Genomic Location for HIKESHI Gene

Chromosome:
11
Start:
86,302,211 bp from pter
End:
86,345,943 bp from pter
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:
    • Interacts with ATP-bound HSP70 proteins. Interacts with NUP62 and NUP153 (via F-X-F-G repeats).
    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

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 Gene Families and 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.

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

Phenotypes for HIKESHI Gene

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

Animal Model Products

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , 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, cytosol. Nucleus.

Gene Ontology (GO) - Cellular Components for HIKESHI Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005622 intracellular IDA 22541429
GO:0005634 nucleus IEA,IDA 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 COMPARTMENTS 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:0006810 transport IEA --
GO:0007030 Golgi organization IEA --
GO:0015031 protein transport IEA,IDA 22541429
GO:0030324 lung development IEA --
genes like me logo Genes that share ontologies with HIKESHI: view

No data available for SIGNOR curated interactions for HIKESHI Gene

Transcripts for HIKESHI Gene

Unigene Clusters for HIKESHI Gene

Chromosome 11 open reading frame 73:
Representative Sequences:

Inhibitory RNA Products

Clone Products

Flow Cytometry 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

SOURCE GeneReport for Unigene cluster for HIKESHI Gene:

Hs.283322
No Expression Related Data Available

Primer Products

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 and mRNA Expression by UniProt/SwissProt 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 35
  • 100 (a)
OneToOne
C11H11orf73 34
  • 99.83 (n)
dog
(Canis familiaris)
Mammalia C11orf73 35
  • 98 (a)
OneToOne
C21H11orf73 34
  • 96.95 (n)
cow
(Bos Taurus)
Mammalia C29H11orf73 34 35
  • 96.11 (n)
mouse
(Mus musculus)
Mammalia l7Rn6 34 16 35
  • 93.06 (n)
rat
(Rattus norvegicus)
Mammalia l7Rn6 34
  • 92.83 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia C11orf73 35
  • 87 (a)
OneToOne
chicken
(Gallus gallus)
Aves C1H11ORF73 34 35
  • 80.88 (n)
lizard
(Anolis carolinensis)
Reptilia C11orf73 35
  • 86 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia c11orf73 34
  • 76.31 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.6804 34
zebrafish
(Danio rerio)
Actinopterygii C1H11orf73 35
  • 72 (a)
OneToOne
zgc:110091 34
  • 66.5 (n)
wufj34d09 34
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.1040 34
African malaria mosquito
(Anopheles gambiae)
Insecta OPI10_ANOGA 34
  • 52.18 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG13926 34 35
  • 49.38 (n)
worm
(Caenorhabditis elegans)
Secernentea F42A6.6 35
  • 31 (a)
OneToOne
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes SPBC21H7.06c 34
  • 53.73 (n)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.6719 35
  • 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 Sequence Context AA Info Type
rs202003795 Leukodystrophy, hypomyelinating, 13 (HLD13) [MIM:616881], Pathogenic 86,306,374(+) GATCT(C/G)TCTAC intron-variant, nc-transcript-variant, reference, missense
rs10128747 -- 86,322,801(+) aaaaa(A/T)ttttt intron-variant
rs10693563 -- 86,307,085(+) TCAAA(-/TATATAT)TATGT intron-variant
rs10751138 -- 86,332,122(+) TGCCC(A/G)GCTAA intron-variant
rs10792846 -- 86,331,980(+) TTCTT(G/T)TCTTT 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)

Relevant External Links for HIKESHI Gene

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

(3) MalaCards diseases for HIKESHI Gene - From: ClinVar, Swiss-Prot, and DISEASES

Disorder Aliases PubMed IDs
hypomyelinating leukodystrophy 13
  • hld13
hypomyelinating leukoencephalopathy
optic atrophy plus syndrome
  • 3-methylglutaconic aciduria type 3
- 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.

Relevant External Links for HIKESHI

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
HIKESHI
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
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 64
  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 Q.-H. … Chen Z. (Genome Res. 2000) 2 3 4 64
  3. Leukoencephalopathy and early death associated with an Ashkenazi-Jewish founder mutation in the Hikeshi gene. (PMID: 26545878) Edvardson S. … Elpeleg O. (J. Med. Genet. 2016) 3 4 64
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4 64
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4 64

Products for HIKESHI Gene

Sources for HIKESHI Gene

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