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

    Gene ID: 67669, updated on 21-Apr-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

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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