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AKIRIN1 akirin 1 [ Homo sapiens (human) ]

Gene ID: 79647, updated on 2-Nov-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, Nov 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: HPA RNA-seq normal tissues 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

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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)

Genotypes

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.

Chemical Information
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