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Hikeshi heat shock protein nuclear import factor [ Mus musculus (house mouse) ]

Gene ID: 67669, updated on 5-Mar-2024

Summary

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Official Symbol
Hikeshiprovided by MGI
Official Full Name
heat shock protein nuclear import factorprovided by MGI
Primary source
MGI:MGI:96738
See related
Ensembl:ENSMUSG00000062797 AllianceGenome:MGI:96738
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Mus musculus
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as
l7Rn6; l(7)6Rn; 0610007P06Rik; 1110002N09Rik
Summary
Predicted to enable Hsp70 protein binding activity and nuclear import signal receptor activity. Acts upstream of or within Golgi organization and lung development. Located in cytoplasm. Is expressed in several structures, including adrenal gland; heart; intestine; liver; and respiratory system. Human ortholog(s) of this gene implicated in hypomyelinating leukodystrophy 13. Orthologous to human HIKESHI (heat shock protein nuclear import factor hikeshi). [provided by Alliance of Genome Resources, Apr 2022]
Expression
Ubiquitous expression in CNS E18 (RPKM 6.9), CNS E14 (RPKM 6.1) and 28 other tissues See more
Orthologs
human all
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Genomic context

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Location:
7 D3; 7 50.4 cM
Exon count:
6
Annotation release Status Assembly Chr Location
RS_2024_02 current GRCm39 (GCF_000001635.27) 7 NC_000073.7 (89567893..89590446, complement)
108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 7 NC_000073.6 (89918685..89941223, complement)

Chromosome 7 - NC_000073.7Genomic Context describing neighboring genes Neighboring gene malic enzyme 3, NADP(+)-dependent, mitochondrial Neighboring gene STARR-seq mESC enhancer starr_19494 Neighboring gene predicted gene 15744 Neighboring gene STARR-seq mESC enhancer starr_19496 Neighboring gene coiled-coil domain containing 81 Neighboring gene STARR-positive B cell enhancer ABC_E2241 Neighboring gene STARR-seq mESC enhancer starr_19498 Neighboring gene STARR-seq mESC enhancer starr_19499 Neighboring gene STARR-seq mESC enhancer starr_19500 Neighboring gene STARR-positive B cell enhancer ABC_E4947 Neighboring gene CapStarr-seq enhancer MGSCv37_chr7:97129229-97129338 Neighboring gene Eed upstream regulatory region Neighboring gene STARR-seq mESC enhancer starr_19501 Neighboring gene embryonic ectoderm development Neighboring gene STARR-seq mESC enhancer starr_19504 Neighboring gene RIKEN cDNA E230029C05 gene Neighboring gene predicted gene, 32164

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: Mouse ENCODE transcriptome data
  • Description: RNA profiling data sets generated by the Mouse ENCODE project.
  • BioProject: PRJNA66167
  • Publication: PMID 25409824
  • Analysis date: n/a

Bibliography

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Related articles in PubMed

  1. Upstream and downstream mechanisms for the promoting effects of IGF-1 on differentiation of spermatogonia to primary spermatocytes. Shen G, et al. Life Sci, 2014 Apr 17. PMID 24582811
  2. N-ethyl-N-nitrosourea-induced prenatally lethal mutations define at least two complementation groups within the embryonic ectoderm development (eed) locus in mouse chromosome 7. Rinchik EM, et al. Mamm Genome, 1993. PMID 8358168
  3. Physical localization of eed: a region of mouse chromosome 7 required for gastrulation. Holdener BC, et al. Genomics, 1995 Jun 10. PMID 7558026
  4. N-ethyl-N-nitrosourea mutagenesis of a 6- to 11-cM subregion of the Fah-Hbb interval of mouse chromosome 7: Completed testing of 4557 gametes and deletion mapping and complementation analysis of 31 mutations. Rinchik EM, et al. Genetics, 1999 May. PMID 10224267, Free PMC Article
  5. l7Rn6 encodes a novel protein required for clara cell function in mouse lung development. Fernández-Valdivia R, et al. Genetics, 2006 Jan. PMID 16157679, Free PMC Article

See all (25) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Nuclear import carrier Hikeshi cooperates with HSP70 to promote murine oligodendrocyte differentiation and CNS myelination.
    Title: Nuclear import carrier Hikeshi cooperates with HSP70 to promote murine oligodendrocyte differentiation and CNS myelination.
  2. study identified downregulation of let-7 as an upstream mechanism for IGF1/IGF1R upregulation and activation of ERK1/2 and PI3K as a downstream mechanism mediating the IGF1 signaling cascade promoting spermatogenesis.
    Title: Upstream and downstream mechanisms for the promoting effects of IGF-1 on differentiation of spermatogonia to primary spermatocytes.
Submit: New GeneRIF Correction

Phenotypes

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Associated conditions

Description Tests
lethal, Chr 7, Rinchik 6
GeneReviews: Not available

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics  (MGI)
  • Chemically induced (ENU) (1)  1 citation
  • Endonuclease-mediated (4) 

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Gene Ontology Provided by MGI

Function Evidence Code Pubs
enables Hsp70 protein binding IBA
Inferred from Biological aspect of Ancestor
more info
  
enables Hsp70 protein binding ISO
Inferred from Sequence Orthology
more info
  
enables nuclear import signal receptor activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables nuclear import signal receptor activity ISO
Inferred from Sequence Orthology
more info
  
Process Evidence Code Pubs
acts_upstream_of_or_within Golgi organization IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in cellular response to heat ISO
Inferred from Sequence Orthology
more info
  
acts_upstream_of_or_within lung development IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in protein import into nucleus IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in protein import into nucleus ISO
Inferred from Sequence Orthology
more info
  
involved_in protein transport ISO
Inferred from Sequence Orthology
more info
  
Component Evidence Code Pubs
located_in cytoplasm IDA
Inferred from Direct Assay
more info
 PubMed 
is_active_in cytosol IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in cytosol ISO
Inferred from Sequence Orthology
more info
  
located_in nuclear body ISO
Inferred from Sequence Orthology
more info
  
located_in nuclear speck ISO
Inferred from Sequence Orthology
more info
  
located_in nucleoplasm ISO
Inferred from Sequence Orthology
more info
  
is_active_in nucleus IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in nucleus ISO
Inferred from Sequence Orthology
more info
  

General protein information

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Preferred Names
protein Hikeshi
Names
lethal gene on chromosome 7 Rinchik 6 protein

NCBI Reference Sequences (RefSeq)

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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.

mRNA and Protein(s)

  1. NM_001291286.2 → NP_001278215.1  protein Hikeshi isoform b

    See identical proteins and their annotated locations for NP_001278215.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) uses an alternate in-frame splice junction at the 5' end of an exon compared to variant 1. The resulting isoform (b) has the same N- and C-termini but is shorter compared to isoform a.
    Source sequence(s)
    AC161229, AC165077
    UniProtKB/Swiss-Prot
    Q9DD02
    Conserved Domains (1) summary
    pfam05603
    Location:1 → 175
    DUF775; Protein of unknown function (DUF775)

  2. NM_001291287.2 → NP_001278216.1  protein Hikeshi isoform c

    See identical proteins and their annotated locations for NP_001278216.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) contains an alternate exon and initiates translation at an alternate start codon compared to variant 1. The resulting isoform (c) is shorter at the N-terminus compared to isoform a.
    Source sequence(s)
    AC161229, AC165077
    Consensus CDS
    CCDS80748.1
    UniProtKB/Swiss-Prot
    Q9DD02
    Related
    ENSMUSP00000102856.2, ENSMUST00000075010.12
    Conserved Domains (1) summary
    pfam05603
    Location:1 → 156
    DUF775; Protein of unknown function (DUF775)

  3. NM_001291288.2 → NP_001278217.1  protein Hikeshi isoform d

    See identical proteins and their annotated locations for NP_001278217.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (4) contains an alternate exon and initiates translation at an alternate start codon compared to variant 1. The resulting isoform (d) is shorter at the N-terminus compared to isoform a. Variants 4 and 5 both encode the same isoform (d).
    Source sequence(s)
    AC161229, AC165077
    Consensus CDS
    CCDS80747.1
    UniProtKB/TrEMBL
    A0A140LIK3
    Conserved Domains (1) summary
    pfam05603
    Location:7 → 96
    DUF775; Protein of unknown function (DUF775)

  4. NM_001291289.2 → NP_001278218.1  protein Hikeshi isoform d

    See identical proteins and their annotated locations for NP_001278218.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (5) lacks an alternate exon and initiates translation at an alternate start codon compared to variant 1. The resulting isoform (d) is shorter at the N-terminus compared to isoform a. Variants 4 and 5 both encode the same isoform (d).
    Source sequence(s)
    AC161229, AC165077
    Consensus CDS
    CCDS80747.1
    UniProtKB/TrEMBL
    A0A140LIK3
    Related
    ENSMUST00000208357.2
    Conserved Domains (1) summary
    pfam05603
    Location:7 → 96
    DUF775; Protein of unknown function (DUF775)

  5. NM_026304.4 → NP_080580.1  protein Hikeshi isoform a

    See identical proteins and their annotated locations for NP_080580.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) encodes the longest isoform (a).
    Source sequence(s)
    AC161229, AC165077
    Consensus CDS
    CCDS21445.1
    UniProtKB/Swiss-Prot
    D3YUY2, Q30C40, Q9CZT7, Q9DD02
    Related
    ENSMUSP00000119806.2, ENSMUST00000153470.9
    Conserved Domains (1) summary
    pfam05603
    Location:1 → 195
    DUF775; Protein of unknown function (DUF775)

RNA

  1. NR_111916.1 RNA Sequence

    Status: VALIDATED

    Description
    Transcript Variant: This variant (6) shares the first exon with variant 1 and then continues into the adjacent intron. This intronless is thought to be non-protein coding.
    Source sequence(s)
    AK133534, BY268898
    Related
    ENSMUST00000207695.2

  2. NR_153788.1 RNA Sequence

    Status: VALIDATED

    Description
    Transcript Variant: This variant (7) lacks an alternate exon and uses an alternate splice junction compared to variant 1. This variant is represented as non-coding because the predicted protein does not meet RefSeq quality criteria.
    Source sequence(s)
    AC161229, AC165077, AI037128

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

Reference GRCm39 C57BL/6J

Genomic

  1. NC_000073.7 Reference GRCm39 C57BL/6J

    Range
    89567893..89590446 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_036153385.1 → XP_036009278.1  protein Hikeshi isoform X1

    Conserved Domains (1) summary
    pfam05603
    Location:1 → 156
    DUF775; Protein of unknown function (DUF775)

  2. XM_006508133.5 → XP_006508196.1  protein Hikeshi isoform X2

    See identical proteins and their annotated locations for XP_006508196.1

    UniProtKB/TrEMBL
    A0A140LJ25
    Related
    ENSMUSP00000147050.2, ENSMUST00000207309.2
    Conserved Domains (1) summary
    pfam05603
    Location:1 → 89
    DUF775; Protein of unknown function (DUF775)
Nucleotide Protein Strain
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q9DD02.1 GenPept UniProtKB/Swiss-Prot:Q9DD02

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