HIKESHI (heat shock protein nuclear import factor hikeshi)

Gene
Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
51501
Gene name Gene Name - the full gene name approved by the HGNC.
Heat shock protein nuclear import factor hikeshi
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
HIKESHI
Synonyms (NCBI Gene) Gene synonyms aliases
C11orf73, HLD13, HSPC138, HSPC179, L7RN6, OPI10
Chromosome Chromosome number
11
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
11q14.2
Summary Summary of gene provided in NCBI Entrez 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 n
SNPs SNP information provided by dbSNP.
Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(4)
SNP ID Visualize variation Clinical significance Consequence
rs199509279 C>T Conflicting-interpretations-of-pathogenicity Intron variant
rs202003795 G>C Pathogenic Non coding transcript variant, coding sequence variant, intron variant, missense variant
rs1057520064 G>T Likely-pathogenic Intron variant, splice acceptor variant
rs1387003933 A>G Likely-pathogenic Missense variant, intron variant, coding sequence variant, non coding transcript variant
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(25)
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 32296183
GO:0005634 Component Nucleus IBA
GO:0005634 Component Nucleus IDA 22541429
GO:0005634 Component Nucleus IEA
GO:0005654 Component Nucleoplasm IDA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
614908 26938 ENSG00000149196
Protein
Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Q53FT3
Protein name Protein Hikeshi
Protein 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
PDB 3WVZ , 3WW0
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF05603 DUF775 1 → 195 Protein of unknown function (DUF775) Family
Sequence
Sequence length 197
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
  Reactome
    Regulation of HSF1-mediated heat shock response
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (1)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Hypomyelinating Leukodystrophy Hypomyelinating leukodystrophy 13 rs202003795 N/A
Show/Hide Text Mining Associations (12)
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Atrophy Associate 28000699
Carcinoma Renal Cell Associate 28349958
Cysts Associate 28000699
Demyelinating Diseases Associate 34111619
Epilepsy Associate 28000699
Fever Associate 32377716
Leukodystrophy Metachromatic Associate 34111619
Leukoencephalopathies Associate 28000699
Nystagmus Pathologic Associate 34111619
Pelizaeus Merzbacher like disease autosomal recessive 2 Associate 34111619, 40649816