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    ACTL8 actin like 8 [ Homo sapiens (human) ]

    Gene ID: 81569, updated on 14-Nov-2024

    Summary

    Official Symbol
    ACTL8provided by HGNC
    Official Full Name
    actin like 8provided by HGNC
    Primary source
    HGNC:HGNC:24018
    See related
    Ensembl:ENSG00000117148 AllianceGenome:HGNC:24018
    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
    CT57
    Summary
    Involved in epithelial cell differentiation. Predicted to be located in cytoplasm and cytoskeleton. Predicted to be active in actin filament; stress fiber; and striated muscle thin filament. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Restricted expression toward testis (RPKM 4.2) See more
    Orthologs
    NEW
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    Genomic context

    See ACTL8 in Genome Data Viewer
    Location:
    1p36.13
    Exon count:
    4
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (17755333..17827063)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (17570669..17642450)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (18081828..18153558)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:17840929-17841430 Neighboring gene OCT4-NANOG-H3K4me1 hESC enhancer GRCh37_chr1:17847786-17848452 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:17848453-17849117 Neighboring gene Rho guanine nucleotide exchange factor 10 like Neighboring gene ATAC-STARR-seq lymphoblastoid active region 279 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 280 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:17873548-17874192 Neighboring gene Sharpr-MPRA regulatory region 1053 Neighboring gene OCT4-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:17891467-17892088 Neighboring gene OCT4-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:17892089-17892708 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:17894951-17895467 Neighboring gene Sharpr-MPRA regulatory region 13018 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:17895984-17896500 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:17897017-17897533 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:17907892-17908738 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:17915267-17915832 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:17916399-17916964 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:17934381-17934909 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:17936808-17937309 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:17942885-17943386 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:17955985-17956638 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:17956639-17957290 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:17974609-17975110 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:17992239-17992738 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:17993258-17994044 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:18003408-18004017 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:18009174-18009734 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:18010521-18011122 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:18012606-18013106 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:18013107-18013607 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:18016134-18016866 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:18027273-18027872 Neighboring gene long intergenic non-protein coding RNA 2810 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:18094554-18095120 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:18152523-18153112 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr1:18200107-18201306 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr1:18240050-18241249 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:18280089-18280588 Neighboring gene uncharacterized LOC105376809 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:18335413-18335938 Neighboring gene uncharacterized LOC105376812

    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

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    EBI GWAS Catalog

    Description
    Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
    EBI GWAS Catalog

    Interactions

    General gene information

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding PubMed 
    enables protein kinase binding  
    enables structural constituent of postsynaptic actin cytoskeleton  
    Process Evidence Code Pubs
    involved_in axonogenesis  
    involved_in cell motility  
    involved_in epithelial cell differentiation PubMed 
    Component Evidence Code Pubs
    part_of NuA4 histone acetyltransferase complex  
    is_active_in actin cytoskeleton  
    is_active_in actin filament  
    is_active_in axon  
    is_active_in cytoplasm  
    is_active_in membrane  
    is_active_in synapse  

    General protein information

    Preferred Names
    actin-like protein 8
    Names
    actin like protein
    cancer/testis antigen 57

    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_030812.3NP_110439.2  actin-like protein 8

      See identical proteins and their annotated locations for NP_110439.2

      Status: VALIDATED

      Source sequence(s)
      AK057339, BC028909, BI826094
      Consensus CDS
      CCDS183.1
      UniProtKB/Swiss-Prot
      Q13104, Q96M75, Q9H568
      Related
      ENSP00000364555.1, ENST00000375406.2
      Conserved Domains (2) summary
      smart00268
      Location:4363
      ACTIN; Actin
      cl17037
      Location:7362
      NBD_sugar-kinase_HSP70_actin; Nucleotide-Binding Domain of the sugar kinase/HSP70/actin superfamily

    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
      17755333..17827063
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011542212.3XP_011540514.1  actin-like protein 8 isoform X1

      See identical proteins and their annotated locations for XP_011540514.1

      UniProtKB/Swiss-Prot
      Q13104, Q96M75, Q9H568
      Related
      ENSP00000481590.1, ENST00000617065.1
      Conserved Domains (2) summary
      smart00268
      Location:4363
      ACTIN; Actin
      cl17037
      Location:7362
      NBD_sugar-kinase_HSP70_actin; Nucleotide-Binding Domain of the sugar kinase/HSP70/actin superfamily

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060925.1 Alternate T2T-CHM13v2.0

      Range
      17570669..17642450
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054338898.1XP_054194873.1  actin-like protein 8 isoform X1

      UniProtKB/Swiss-Prot
      Q13104, Q96M75, Q9H568
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