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HIKESHI heat shock protein nuclear import factor hikeshi [ Homo sapiens (human) ]

Gene ID: 51501, updated on 21-Dec-2019

Summary

Official Symbol
HIKESHIprovided by HGNC
Official Full Name
heat shock protein nuclear import factor hikeshiprovided by HGNC
Primary source
HGNC:HGNC:26938
See related
Ensembl:ENSG00000149196 MIM:614908
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
HLD13; L7RN6; OPI10; HSPC138; HSPC179; C11orf73
Summary
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]
Expression
Ubiquitous expression in endometrium (RPKM 9.0), placenta (RPKM 7.6) and 25 other tissues See more
Orthologs

Genomic context

See HIKESHI in Genome Data Viewer
Location:
11q14.2
Exon count:
8
Annotation release Status Assembly Chr Location
109.20191205 current GRCh38.p13 (GCF_000001405.39) 11 NC_000011.10 (86302229..86345943)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (86013253..86056985)

Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene embryonic ectoderm development Neighboring gene immunoglobin superfamily member 21 pseudogene Neighboring gene SET pseudogene 17 Neighboring gene RNA, 7SL, cytoplasmic 225, pseudogene Neighboring gene uncharacterized LOC105369421 Neighboring gene coiled-coil domain containing 81 Neighboring gene PTP4A1 pseudogene 6

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Leukodystrophy, hypomyelinating, 13
MedGen: C4225170 OMIM: 616881 GeneReviews: Not available
Compare labs

NHGRI GWAS Catalog

Description
A genome-wide study of common SNPs and CNVs in cognitive performance in the CANTAB.
NHGRI GWA Catalog

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ43020

Gene Ontology Provided by GOA

Function Evidence Code Pubs
Hsp70 protein binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Hsp70 protein binding IDA
Inferred from Direct Assay
more info
PubMed 
Hsp70 protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
nuclear import signal receptor activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
nuclear import signal receptor activity IDA
Inferred from Direct Assay
more info
PubMed 
Process Evidence Code Pubs
Golgi organization IEA
Inferred from Electronic Annotation
more info
 
cellular response to heat IDA
Inferred from Direct Assay
more info
PubMed 
lung development IEA
Inferred from Electronic Annotation
more info
 
protein import into nucleus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
protein import into nucleus IDA
Inferred from Direct Assay
more info
PubMed 
protein transport IDA
Inferred from Direct Assay
more info
PubMed 
regulation of cellular response to heat TAS
Traceable Author Statement
more info
 
Component Evidence Code Pubs
cytosol IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cytosol IDA
Inferred from Direct Assay
more info
PubMed 
cytosol TAS
Traceable Author Statement
more info
 
nuclear body IDA
Inferred from Direct Assay
more info
 
nuclear speck IDA
Inferred from Direct Assay
more info
 
nucleoplasm IDA
Inferred from Direct Assay
more info
 
nucleoplasm TAS
Traceable Author Statement
more info
 
nucleus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
nucleus IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
protein Hikeshi
Names
Hikeshi, heat shock protein nuclear import factor
lethal, Chr 7, Rinchik 6

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_046865.1 RefSeqGene

    Range
    5030..48733
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001322404.2NP_001309333.1  protein Hikeshi isoform 2

    Status: REVIEWED

    Source sequence(s)
    AP001148
    Conserved Domains (1) summary
    pfam05603
    Location:1172
    DUF775; Protein of unknown function (DUF775)
  2. NM_001322407.2NP_001309336.1  protein Hikeshi isoform 3

    Status: REVIEWED

    Source sequence(s)
    AP001148
    Conserved Domains (1) summary
    pfam05603
    Location:1153
    DUF775; Protein of unknown function (DUF775)
  3. NM_001322409.2NP_001309338.1  protein Hikeshi isoform 3

    Status: REVIEWED

    Source sequence(s)
    AP001148
    Conserved Domains (1) summary
    pfam05603
    Location:1153
    DUF775; Protein of unknown function (DUF775)
  4. NM_016401.4NP_057485.2  protein Hikeshi isoform 1

    See identical proteins and their annotated locations for NP_057485.2

    Status: REVIEWED

    Source sequence(s)
    AP001148, BC015991
    Consensus CDS
    CCDS8275.1
    UniProtKB/Swiss-Prot
    Q53FT3
    Related
    ENSP00000278483.3, ENST00000278483.8
    Conserved Domains (1) summary
    pfam05603
    Location:1192
    DUF775; Protein of unknown function (DUF775)

RNA

  1. NR_024597.2 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AP001148, BC015991, BE858273, BP423222
  2. NR_024598.2 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AA148558, AP001148, BC021621
    Related
    ENST00000531485.5
  3. NR_136324.2 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AP001148

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20191205

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000011.10 Reference GRCh38.p13 Primary Assembly

    Range
    86302229..86345943
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017017915.1XP_016873404.1  protein Hikeshi isoform X2

    Related
    ENSP00000482151.1, ENST00000618164.1
    Conserved Domains (1) summary
    pfam05603
    Location:1153
    DUF775; Protein of unknown function (DUF775)
  2. XM_017017914.2XP_016873403.1  protein Hikeshi isoform X1

    Related
    ENSP00000432699.1, ENST00000533986.5

RNA

  1. XR_001747904.2 RNA Sequence

  2. XR_949963.3 RNA Sequence

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NR_024596.1: Suppressed sequence

    Description
    NR_024596.1: This RefSeq was removed because currently there is insufficient support for the transcript.
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