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    AKIRIN1 akirin 1 [ Homo sapiens (human) ]

    Gene ID: 79647, updated on 10-Dec-2024

    Summary

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    Official Symbol
    AKIRIN1provided by HGNC
    Official Full Name
    akirin 1provided by HGNC
    Primary source
    HGNC:HGNC:25744
    See related
    Ensembl:ENSG00000174574 MIM:615164; AllianceGenome:HGNC:25744
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    STRF2; C1orf108
    Summary
    Predicted to enable transcription coregulator activity. Predicted to be involved in several processes, including myoblast migration involved in skeletal muscle regeneration; negative regulation of satellite cell differentiation; and positive regulation of lamellipodium assembly. Located in nuclear membrane and nucleoplasm. [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Ubiquitous expression in testis (RPKM 41.1), bone marrow (RPKM 25.3) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See AKIRIN1 in Genome Data Viewer
    Location:
    1p34.3
    Exon count:
    5
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (38991276..39006059)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (38858494..38873280)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (39456948..39471731)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene rhomboid like 2 Neighboring gene RNA, U6 small nuclear 605, pseudogene Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr1:39419004-39419583 Neighboring gene eukaryotic translation initiation factor 1 pseudogene 2 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr1:39456070-39456842 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 691 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:39465981-39466886 Neighboring gene Sharpr-MPRA regulatory region 593 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_7850 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_7853 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:39480053-39480552 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:39482837-39483545 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_7860 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:39491963-39492549 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:39492550-39493135 Neighboring gene ReSE screen-validated silencer GRCh37_chr1:39493906-39494071 Neighboring gene uncharacterized LOC124904088 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 800 Neighboring gene NADH:ubiquinone oxidoreductase subunit S5 Neighboring gene NANOG hESC enhancer GRCh37_chr1:39517634-39518135

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: Tissue-specific circular RNA induction during human fetal development
    • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
    • BioProject: PRJNA270632
    • Publication: PMID 26076956
    • Analysis date: Mon Apr 2 22:54:59 2018

    Bibliography

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    Related articles in PubMed

    1. AKIRIN1: A Potential New Reference Gene in Human Natural Killer Cells and Granulocytes in Sepsis. Coulibaly A, et al. Int J Mol Sci, 2019 May 9. PMID 31075840, Free PMC Article
    2. Evolution of the multifaceted eukaryotic akirin gene family. Macqueen DJ, et al. BMC Evol Biol, 2009 Feb 6. PMID 19200367, Free PMC Article
    3. Akirins are highly conserved nuclear proteins required for NF-kappaB-dependent gene expression in drosophila and mice. Goto A, et al. Nat Immunol, 2008 Jan. PMID 18066067, Free PMC Article
    4. AKIRIN2 controls the nuclear import of proteasomes in vertebrates. de Almeida M, et al. Nature, 2021 Nov. PMID 34711951
    5. Proteome-scale mapping of binding sites in the unstructured regions of the human proteome. Benz C, et al. Mol Syst Biol, 2022 Jan. PMID 35044719, Free PMC Article

    See all (19) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Inspection of external neutrophil transcriptome datasets further support unchanged AKIRIN1 expression in human systemic inflammation.
      Title: AKIRIN1: A Potential New Reference Gene in Human Natural Killer Cells and Granulocytes in Sepsis.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ12666

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables transcription coregulator activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Process Evidence Code Pubs
    involved_in myoblast migration involved in skeletal muscle regeneration IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in myoblast migration involved in skeletal muscle regeneration ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in negative regulation of satellite cell differentiation ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in negative regulation of skeletal muscle satellite cell proliferation IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in negative regulation of skeletal muscle satellite cell proliferation ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in positive regulation of lamellipodium assembly IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in positive regulation of lamellipodium assembly ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in positive regulation of macrophage chemotaxis IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in positive regulation of macrophage chemotaxis ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in positive regulation of myoblast differentiation IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in positive regulation of myoblast differentiation ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in positive regulation of transcription by RNA polymerase II IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in positive regulation of transcription by RNA polymerase II ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    Component Evidence Code Pubs
    located_in chromatin IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in nuclear membrane IDA
    Inferred from Direct Assay
    more info
    		  
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
    		  
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    akirin-1

    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_001136275.2 → NP_001129747.1  akirin-1 isoform 2

      See identical proteins and their annotated locations for NP_001129747.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) lacks an alternate in-frame exon compared to variant 1. The resulting isoform (2) has the same N- and C-termini but is shorter compared to isoform 1.
      Source sequence(s)
      AK303098, AL606465, DB727813
      Consensus CDS
      CCDS44113.1
      UniProtKB/Swiss-Prot
      Q9H9L7
      Related
      ENSP00000389866.2, ENST00000446189.6

    2. NM_024595.3 → NP_078871.1  akirin-1 isoform 1

      See identical proteins and their annotated locations for NP_078871.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      AL606465, BC119745, DB727813
      Consensus CDS
      CCDS433.1
      UniProtKB/Swiss-Prot
      B4DZU6, Q0VDB3, Q53FK8, Q9H9L7
      Related
      ENSP00000392678.3, ENST00000432648.8
      Conserved Domains (1) summary
      cd22243
      Location:2 → 192
      akirin-1

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000001.11 Reference GRCh38.p14 Primary Assembly

      Range
      38991276..39006059
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060925.1 Alternate T2T-CHM13v2.0

      Range
      38858494..38873280
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9H9L7.1 GenPept UniProtKB/Swiss-Prot:Q9H9L7

    Gene LinkOut

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

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