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    AKIRIN1 akirin 1 [ Homo sapiens (human) ]

    Gene ID: 79647, updated on 2-Nov-2024

    Summary

    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
    NEW
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    Genomic context

    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

    Expression

    • 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

    Interactions

    General gene information

    Clone Names

    • FLJ12666

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding PubMed 
    enables transcription coregulator activity  
    Process Evidence Code Pubs
    involved_in myoblast migration involved in skeletal muscle regeneration  
    involved_in myoblast migration involved in skeletal muscle regeneration  
    involved_in negative regulation of satellite cell differentiation  
    involved_in negative regulation of skeletal muscle satellite cell proliferation  
    involved_in negative regulation of skeletal muscle satellite cell proliferation  
    involved_in positive regulation of lamellipodium assembly  
    involved_in positive regulation of lamellipodium assembly  
    involved_in positive regulation of macrophage chemotaxis  
    involved_in positive regulation of macrophage chemotaxis  
    involved_in positive regulation of myoblast differentiation  
    involved_in positive regulation of myoblast differentiation  
    involved_in positive regulation of transcription by RNA polymerase II  
    involved_in positive regulation of transcription by RNA polymerase II  
    Component Evidence Code Pubs
    located_in chromatin  
    located_in nuclear membrane  
    located_in nucleoplasm  
    is_active_in nucleus  
    located_in nucleus PubMed 

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_001136275.2NP_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_024595.3NP_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:2192
      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)
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