Aliases for ACTL8 Gene

Aliases for ACTL8 Gene

  • Actin Like 8 2 3 5
  • Cancer/Testis Antigen 57 2 3 4
  • CT57 2 3 4
  • Actin-Like Protein 8 3 4
  • Actin Like Protein 3
  • ACTL8 5

External Ids for ACTL8 Gene

Previous GeneCards Identifiers for ACTL8 Gene

  • GC01P017828
  • GC01P017954
  • GC01P018081
  • GC01P016396
  • GC01P017712

Summaries for ACTL8 Gene

GeneCards Summary for ACTL8 Gene

ACTL8 (Actin Like 8) is a Protein Coding gene. An important paralog of this gene is ACTC1.

Additional gene information for ACTL8 Gene

No data available for Entrez Gene Summary , CIViC Summary , UniProtKB/Swiss-Prot Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for ACTL8 Gene

Genomics for ACTL8 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for ACTL8 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH01J017755 Promoter 0.9 EPDnew 600.7 0.0 -19 0.1 CTCF KDM1A MNT MGA CBX3 ZBED1 ZSCAN5C ZNF580 USF1 GABPA ACTL8 piR-43105-019 ARHGEF10L
GH01J017724 Enhancer 0.4 dbSUPER 12.9 -29.7 -29650 1.7 GLIS1 JUND ZNF133 ACTL8 piR-43105-019 LINC02810 ARHGEF10L
GH01J017764 Enhancer 0.9 Ensembl ENCODE 0.4 +12.0 11968 5 ZNF629 ZNF692 ZIC2 PATZ1 ZNF600 ZNF341 SP1 JUND CEBPB NFE2 ACTL8 piR-32285-002 IGSF21
GH01J017537 Promoter/Enhancer 2.4 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 0.1 -215.5 -215479 3.9 ATF7 KDM1A ZNF692 TARDBP ZIC2 POLR2A PATZ1 ZNF341 ZFX SCRT2 ARHGEF10L FJ601684-007 piR-57460-020 lnc-ARHGEF10L-1 ACTL8
GH01J017669 Enhancer 1 Ensembl CraniofacialAtlas dbSUPER 0.2 -81.9 -81888 5.3 RFX1 ZNF341 SCRT2 ZEB1 CTCF ZNF266 RBM22 SCRT1 ZNF623 ZFHX2 MFAP2 ENSG00000226526 KLHDC7A piR-35672-002 RF00017-086 ACTL8 ARHGEF10L
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around ACTL8 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for ACTL8

Top Transcription factor binding sites by QIAGEN in the ACTL8 gene promoter:
  • c-Myb
  • c-Myc
  • Chx10
  • HNF-1
  • HNF-1A
  • LCR-F1
  • Max1
  • MyoD
  • TGIF

Genomic Locations for ACTL8 Gene

Genomic Locations for ACTL8 Gene
chr1:17,755,333-17,827,063
(GRCh38/hg38)
Size:
71,731 bases
Orientation:
Plus strand
chr1:18,081,808-18,153,558
(GRCh37/hg19)
Size:
71,751 bases
Orientation:
Plus strand

Genomic View for ACTL8 Gene

Genes around ACTL8 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ACTL8 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ACTL8 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ACTL8 Gene

Proteins for ACTL8 Gene

  • Protein details for ACTL8 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9H568-ACTL8_HUMAN
    Recommended name:
    Actin-like protein 8
    Protein Accession:
    Q9H568
    Secondary Accessions:
    • Q13104
    • Q96M75

    Protein attributes for ACTL8 Gene

    Size:
    366 amino acids
    Molecular mass:
    41360 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=AAA62476.1; Type=Frameshift; Evidence={ECO:0000305};

neXtProt entry for ACTL8 Gene

Post-translational modifications for ACTL8 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for ACTL8 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for ACTL8 Gene

Domains & Families for ACTL8 Gene

Gene Families for ACTL8 Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for ACTL8 Gene

InterPro:
Blocks:
  • Actin/actin-like
ProtoNet:

Suggested Antigen Peptide Sequences for ACTL8 Gene

GenScript: Design optimal peptide antigens:
  • Cancer/testis antigen 57 (ACTL8_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q9H568

UniProtKB/Swiss-Prot:

ACTL8_HUMAN :
  • Belongs to the actin family.
Family:
  • Belongs to the actin family.
genes like me logo Genes that share domains with ACTL8: view

Function for ACTL8 Gene

Phenotypes From GWAS Catalog for ACTL8 Gene

Gene Ontology (GO) - Molecular Function for ACTL8 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 25416956
GO:0098973 structural constituent of postsynaptic actin cytoskeleton IBA --
genes like me logo Genes that share ontologies with ACTL8: view
genes like me logo Genes that share phenotypes with ACTL8: view

Animal Model Products

CRISPR Products

miRNA for ACTL8 Gene

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ACTL8

No data available for Molecular function , Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for ACTL8 Gene

Localization for ACTL8 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ACTL8 Gene

Cytoplasm, cytoskeleton.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for ACTL8 gene
Compartment Confidence
cytoskeleton 3
cytosol 3
nucleus 2
extracellular 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for ACTL8 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0005856 cytoskeleton IEA --
GO:0005869 dynactin complex IBA 21873635
GO:0005884 actin filament IBA --
GO:0015629 actin cytoskeleton IBA 21873635
genes like me logo Genes that share ontologies with ACTL8: view

Pathways & Interactions for ACTL8 Gene

PathCards logo

SuperPathways for ACTL8 Gene

No Data Available

Gene Ontology (GO) - Biological Process for ACTL8 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0030855 epithelial cell differentiation IEP 21492153
GO:0048488 synaptic vesicle endocytosis IBA --
GO:0098974 postsynaptic actin cytoskeleton organization IEA --
genes like me logo Genes that share ontologies with ACTL8: view

No data available for Pathways by source and SIGNOR curated interactions for ACTL8 Gene

Drugs & Compounds for ACTL8 Gene

No Compound Related Data Available

Transcripts for ACTL8 Gene

mRNA/cDNA for ACTL8 Gene

1 REFSEQ mRNAs :
4 NCBI additional mRNA sequence :
2 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ACTL8

Alternative Splicing Database (ASD) splice patterns (SP) for ACTL8 Gene

No ASD Table

Relevant External Links for ACTL8 Gene

GeneLoc Exon Structure for
ACTL8

Expression for ACTL8 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for ACTL8 Gene

mRNA differential expression in normal tissues according to GTEx for ACTL8 Gene

This gene is overexpressed in Testis (x46.8).

Protein differential expression in normal tissues from HIPED for ACTL8 Gene

This gene is overexpressed in Testis (51.4) and Ovary (12.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for ACTL8 Gene



Protein tissue co-expression partners for ACTL8 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for ACTL8

SOURCE GeneReport for Unigene cluster for ACTL8 Gene:

Hs.2149

mRNA Expression by UniProt/SwissProt for ACTL8 Gene:

Q9H568-ACTL8_HUMAN
Tissue specificity: Strongly expressed in testis and pancreas. Weak expression in placenta.

Evidence on tissue expression from TISSUES for ACTL8 Gene

  • Nervous system(4.4)
genes like me logo Genes that share expression patterns with ACTL8: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and Phenotype-based relationships between genes and organs from Gene ORGANizer for ACTL8 Gene

Orthologs for ACTL8 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for ACTL8 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia ACTL8 30 31
  • 99.54 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia ACTL8 30 31
  • 82.28 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia ACTL8 30 31
  • 78.26 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia -- 31
  • 29 (a)
OneToMany
-- 31
  • 27 (a)
OneToMany
Mouse
(Mus musculus)
Mammalia Actl11 31
  • 8 (a)
ManyToMany
Zebrafish
(Danio rerio)
Actinopterygii actr2a 31
  • 27 (a)
ManyToMany
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes ARP2 31
  • 26 (a)
OneToMany
Species where no ortholog for ACTL8 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Fruit Fly (Drosophila melanogaster)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Lizard (Anolis carolinensis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Platypus (Ornithorhynchus anatinus)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rat (Rattus norvegicus)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Squirt (Ciona savignyi)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Tropical Clawed Frog (Silurana tropicalis)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)

Evolution for ACTL8 Gene

ENSEMBL:
Gene Tree for ACTL8 (if available)
TreeFam:
Gene Tree for ACTL8 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for ACTL8: view image

Paralogs for ACTL8 Gene

(23) SIMAP similar genes for ACTL8 Gene using alignment to 1 proteins:

  • ACTL8_HUMAN

Pseudogenes.org Pseudogenes for ACTL8 Gene

genes like me logo Genes that share paralogs with ACTL8: view

Variants for ACTL8 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for ACTL8 Gene

SNP ID Clinical significance and condition Chr 01 pos Variation AA Info Type
rs3795322 - p.Arg245Cys
rs694214 - p.Ala3Ser

Additional dbSNP identifiers (rs#s) for ACTL8 Gene

Structural Variations from Database of Genomic Variants (DGV) for ACTL8 Gene

Variant ID Type Subtype PubMed ID
esv2669735 CNV deletion 23128226
esv3585376 CNV loss 21293372
nsv1160182 CNV duplication 26073780
nsv508248 CNV deletion 20534489

Variation tolerance for ACTL8 Gene

Residual Variation Intolerance Score: 81.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.59; 44.96% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for ACTL8 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
ACTL8

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ACTL8 Gene

Disorders for ACTL8 Gene

Additional Disease Information for ACTL8

No disorders were found for ACTL8 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for ACTL8 Gene

Publications for ACTL8 Gene

  1. High expression of ACTL8 is poor prognosis and accelerates cell progression in head and neck squamous cell carcinoma. (PMID: 30535476) Li B … Meng L (Molecular medicine reports 2019) 2 3
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4
  3. A reference map of the human binary protein interactome. (PMID: 32296183) Luck K … Calderwood MA (Nature 2020) 3
  4. H4K20me0 recognition by BRCA1-BARD1 directs homologous recombination to sister chromatids. (PMID: 30804502) Nakamura K … Groth A (Nature cell biology 2019) 3
  5. An Interaction Landscape of Ubiquitin Signaling. (PMID: 28190767) Zhang X … Vermeulen M (Molecular cell 2017) 3

Products for ACTL8 Gene

  • Signalway Proteins for ACTL8

Sources for ACTL8 Gene