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ACTL8 actin like 8 [ Homo sapiens (human) ]

Gene ID: 81569, updated on 29-Mar-2023

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. Predicted to be part of dynactin complex. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Restricted expression toward testis (RPKM 4.2) See more
Orthologs
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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_2023_03 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (17755333..17827063)
RS_2023_03 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (17570669..17642450)
105.20220307 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_chr1:18027273-18027872 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

Genomic regions, transcripts, and products

Expression

  • Project title: 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

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
involved_in epithelial cell differentiation IEP
Inferred from Expression Pattern
more info
PubMed 
involved_in skeletal muscle thin filament assembly IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
is_active_in actin filament IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
is_active_in stress fiber IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
is_active_in striated muscle thin filament IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 

General protein information

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

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_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
    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_2023_03

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
    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