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Aliases for ACTL8 Gene

Aliases for ACTL8 Gene

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

External Ids for ACTL8 Gene

Previous GeneCards Identifiers for ACTL8 Gene

  • GC01P017828
  • GC01P017954
  • GC01P018081
  • GC01P016396

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 ACTR2.

Additional gene information for ACTL8 Gene

No data available for Entrez Gene Summary , CIViC summary , UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ACTL8 Gene

Genomics for ACTL8 Gene

GeneHancer (GH) Regulatory Elements for ACTL8 Gene

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
GH01I017755 Promoter 1.1 EPDnew 550.3 +43.3 43314 0.1 BCOR CTCF USF1 ETV1 MAX ZMYM3 ZBTB40 CBX5 ZSCAN5C SMARCA5 ACTL8 ENSG00000236648 GC01M017877 GC01M017878
GH01I017817 Promoter 0.5 EPDnew 550.1 +105.7 105670 0.1 ACTL8 GC01M017878 GC01M017877 ENSG00000236648
GH01I017716 Enhancer 0.6 FANTOM5 dbSUPER 0.8 +4.5 4511 0.2 ZNF366 ZNF341 ENSG00000236648 RCC2 ACTL8
GH01I017629 Enhancer 1.4 FANTOM5 Ensembl ENCODE dbSUPER 0.2 -81.6 -81594 2.2 CTCF PKNOX1 USF1 SIN3A USF2 MNT RAD21 MITF ZNF121 SCRT2 ARHGEF10L PADI4 GC01P017551 ACTL8
GH01I017617 Promoter/Enhancer 1.2 Ensembl ENCODE dbSUPER 0.2 -93.3 -93332 2.7 ZNF664 ZFHX2 ZNF362 KLF17 EGR2 GC01P017551 ACTL8 ARHGEF10L
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around ACTL8 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the ACTL8 gene promoter:

Genomic Locations for ACTL8 Gene

Genomic Locations for ACTL8 Gene
chr1:17,712,000-17,827,063
(GRCh38/hg38)
Size:
115,064 bases
Orientation:
Plus strand
chr1:18,081,808-18,153,558
(GRCh37/hg19)

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; Positions=30, 49, 110, 127, 141, 344, 347, 354; 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:
ProtoNet:

Suggested Antigen Peptide Sequences for ACTL8 Gene

GenScript: Design optimal peptide antigens:

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
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

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
cytosol 4
cytoskeleton 3
nucleus 2

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 --
genes like me logo Genes that share ontologies with ACTL8: view

Pathways & Interactions for ACTL8 Gene

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
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

(2) REFSEQ mRNAs :
(3) Additional mRNA sequences :
(23) Selected AceView cDNA sequences:
(2) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for ACTL8 Gene

Actin-like 8:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

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

No ASD Table

Relevant External Links for ACTL8 Gene

GeneLoc Exon Structure for
ACTL8
ECgene alternative splicing isoforms for
ACTL8

Expression for ACTL8 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP 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, PaxDb, MaxQB, and MOPED for ACTL8 Gene



Protein tissue co-expression partners for ACTL8 Gene

NURSA nuclear receptor signaling pathways regulating expression of ACTL8 Gene:

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(4.2)
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 33 34
  • 99.54 (n)
dog
(Canis familiaris)
Mammalia ACTL8 33 34
  • 82.28 (n)
cow
(Bos Taurus)
Mammalia ACTL8 33 34
  • 78.26 (n)
oppossum
(Monodelphis domestica)
Mammalia -- 34
  • 29 (a)
OneToMany
-- 34
  • 27 (a)
OneToMany
mouse
(Mus musculus)
Mammalia Actl11 34
  • 8 (a)
ManyToMany
zebrafish
(Danio rerio)
Actinopterygii actr2a 34
  • 27 (a)
ManyToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes ARP2 34
  • 26 (a)
OneToMany
Species where no ortholog for ACTL8 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya 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 squirt (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)

Paralogs for ACTL8 Gene

Paralogs for ACTL8 Gene

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

Pseudogenes.org Pseudogenes for ACTL8 Gene

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

Variants for ACTL8 Gene

Sequence variations from dbSNP and Humsavar for ACTL8 Gene

SNP ID Clin Chr 01 pos Variation AA Info Type
rs1000000510 -- 17,754,892(+) T/C upstream_transcript_variant
rs1000013390 -- 17,820,438(+) A/G intron_variant
rs1000046339 -- 17,781,674(+) G/T intron_variant
rs1000069946 -- 17,796,640(+) G/A intron_variant
rs1000207830 -- 17,824,857(+) A/C intron_variant

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. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 58
  2. An Interaction Landscape of Ubiquitin Signaling. (PMID: 28190767) Zhang X … Vermeulen M (Molecular cell 2017) 3 58
  3. A human interactome in three quantitative dimensions organized by stoichiometries and abundances. (PMID: 26496610) Hein MY … Mann M (Cell 2015) 3 58
  4. A proteome-scale map of the human interactome network. (PMID: 25416956) Rolland T … Vidal M (Cell 2014) 3 58
  5. Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population. (PMID: 23251661) Comuzzie AG … Butte NF (PloS one 2012) 3 58

Products for ACTL8 Gene

Sources for ACTL8 Gene

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