Aliases for ACTRT3 Gene

Aliases for ACTRT3 Gene

  • Actin Related Protein T3 2 3 5
  • ARPM1 2 3 4
  • Actin-Related Protein T3 3 4
  • Actin-Related Protein M1 3 4
  • ARP-T3 3 4
  • Actin Related Protein M1 2
  • ACTRT3 5

External Ids for ACTRT3 Gene

Previous GeneCards Identifiers for ACTRT3 Gene

  • GC03M169485
  • GC03M169487
  • GC03M169492
  • GC03M169497

Summaries for ACTRT3 Gene

GeneCards Summary for ACTRT3 Gene

ACTRT3 (Actin Related Protein T3) is a Protein Coding gene. Diseases associated with ACTRT3 include Dyskeratosis Congenita, Autosomal Dominant 1 and Dyskeratosis Congenita Autosomal Dominant. An important paralog of this gene is ACTB.

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 ACTRT3 Gene

Genomics for ACTRT3 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for ACTRT3 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around ACTRT3 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for ACTRT3

Genomic Locations for ACTRT3 Gene

Genomic Locations for ACTRT3 Gene
chr3:169,766,921-169,769,561
(GRCh38/hg38)
Size:
2,641 bases
Orientation:
Minus strand
chr3:169,484,709-169,487,683
(GRCh37/hg19)
Size:
2,975 bases
Orientation:
Minus strand

Genomic View for ACTRT3 Gene

Genes around ACTRT3 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ACTRT3 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ACTRT3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ACTRT3 Gene

Proteins for ACTRT3 Gene

  • Protein details for ACTRT3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9BYD9-ACTT3_HUMAN
    Recommended name:
    Actin-related protein T3
    Protein Accession:
    Q9BYD9
    Secondary Accessions:
    • Q96IS0
    • Q96NJ0

    Protein attributes for ACTRT3 Gene

    Size:
    372 amino acids
    Molecular mass:
    41008 Da
    Quaternary structure:
    • Interacts with PFN3.

neXtProt entry for ACTRT3 Gene

Post-translational modifications for ACTRT3 Gene

No Post-translational modifications

Other Protein References for ACTRT3 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for ACTRT3 Gene

Domains & Families for ACTRT3 Gene

Gene Families for ACTRT3 Gene

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

Protein Domains for ACTRT3 Gene

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

Suggested Antigen Peptide Sequences for ACTRT3 Gene

GenScript: Design optimal peptide antigens:
  • Actin-related protein M1 (ARPM1_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q9BYD9

UniProtKB/Swiss-Prot:

ACTT3_HUMAN :
  • Belongs to the actin family.
Family:
  • Belongs to the actin family.
genes like me logo Genes that share domains with ACTRT3: view

Function for ACTRT3 Gene

Phenotypes From GWAS Catalog for ACTRT3 Gene

genes like me logo Genes that share phenotypes with ACTRT3: view

Animal Models for ACTRT3 Gene

MGI Knock Outs for ACTRT3:
  • Actrt3 Actrt3<tm1.1(KOMP)Vlcg>

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ACTRT3

No data available for Molecular function , Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for ACTRT3 Gene

Localization for ACTRT3 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ACTRT3 Gene

Cytoplasm, cytoskeleton. Cytoplasm. Nucleus.

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 ACTRT3 gene
Compartment Confidence
cytoskeleton 3
nucleus 3
cytosol 3
plasma membrane 2
mitochondrion 1
endoplasmic reticulum 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for ACTRT3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001673 male germ cell nucleus IEA --
GO:0005634 nucleus IBA --
GO:0005737 cytoplasm IEA --
GO:0005856 cytoskeleton IEA --
GO:0015629 actin cytoskeleton IBA --
genes like me logo Genes that share ontologies with ACTRT3: view

Pathways & Interactions for ACTRT3 Gene

PathCards logo

SuperPathways for ACTRT3 Gene

No Data Available

Gene Ontology (GO) - Biological Process for ACTRT3 Gene

None

No data available for Pathways by source and SIGNOR curated interactions for ACTRT3 Gene

Drugs & Compounds for ACTRT3 Gene

No Compound Related Data Available

Transcripts for ACTRT3 Gene

mRNA/cDNA for ACTRT3 Gene

1 REFSEQ mRNAs :
4 NCBI additional mRNA sequence :
1 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 ACTRT3

Alternative Splicing Database (ASD) splice patterns (SP) for ACTRT3 Gene

No ASD Table

Relevant External Links for ACTRT3 Gene

GeneLoc Exon Structure for
ACTRT3

Expression for ACTRT3 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for ACTRT3 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

  • Testis (Reproductive System)

mRNA differential expression in normal tissues according to GTEx for ACTRT3 Gene

This gene is overexpressed in Testis (x21.9).

Protein differential expression in normal tissues from HIPED for ACTRT3 Gene

This gene is overexpressed in Testis (50.1) and Ovary (18.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for ACTRT3 Gene



Protein tissue co-expression partners for ACTRT3 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for ACTRT3

SOURCE GeneReport for Unigene cluster for ACTRT3 Gene:

Hs.135411

mRNA Expression by UniProt/SwissProt for ACTRT3 Gene:

Q9BYD9-ACTT3_HUMAN
Tissue specificity: Ubiquitously expressed.

Evidence on tissue expression from TISSUES for ACTRT3 Gene

  • Nervous system(4.1)
  • Intestine(4)
genes like me logo Genes that share expression patterns with ACTRT3: view

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for ACTRT3 Gene

Orthologs for ACTRT3 Gene

This gene was present in the common ancestor of animals.

Orthologs for ACTRT3 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia ACTRT3 30
  • 99.55 (n)
ARPM1 31
  • 99 (a)
OneToOne
Cow
(Bos Taurus)
Mammalia ARPM1 30 31
  • 87.23 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia ACTRT3 30 31
  • 87.01 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Actrt3 30 17 31
  • 82.02 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Actrt3 30
  • 80.86 (n)
Oppossum
(Monodelphis domestica)
Mammalia ACTRT3 31
  • 68 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia -- 31
  • 34 (a)
ManyToMany
Lizard
(Anolis carolinensis)
Reptilia ACTRT3 31
  • 58 (a)
OneToOne
Fruit Fly
(Drosophila melanogaster)
Insecta Arp53D 31
  • 44 (a)
OneToMany
Species where no ortholog for ACTRT3 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)
  • Baker's yeast (Saccharomyces cerevisiae)
  • 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)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • 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)
  • Zebrafish (Danio rerio)

Evolution for ACTRT3 Gene

ENSEMBL:
Gene Tree for ACTRT3 (if available)
TreeFam:
Gene Tree for ACTRT3 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for ACTRT3: view image

Paralogs for ACTRT3 Gene

(26) SIMAP similar genes for ACTRT3 Gene using alignment to 1 proteins:

  • ACTT3_HUMAN
genes like me logo Genes that share paralogs with ACTRT3: view

Variants for ACTRT3 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for ACTRT3 Gene

SNP ID Clinical significance and condition Chr 03 pos Variation AA Info Type
40977 Pathogenic: Dyskeratosis congenita, autosomal dominant 1 169,764,740(-) GGCTGACAGAGCCCAA
rs2068178 - p.Glu234Lys

Additional dbSNP identifiers (rs#s) for ACTRT3 Gene

Structural Variations from Database of Genomic Variants (DGV) for ACTRT3 Gene

Variant ID Type Subtype PubMed ID
esv2422204 CNV deletion 17116639
esv2503104 CNV insertion 19546169
nsv7356 OTHER inversion 18451855

Variation tolerance for ACTRT3 Gene

Residual Variation Intolerance Score: 67% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.70; 66.11% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for ACTRT3 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
ACTRT3

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ACTRT3 Gene

Disorders for ACTRT3 Gene

MalaCards: The human disease database

(3) MalaCards diseases for ACTRT3 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
dyskeratosis congenita, autosomal dominant 1
  • dkca1
dyskeratosis congenita autosomal dominant
  • autosomal dominant dyskeratosis congenita
dyskeratosis congenita
  • zinsser-cole-engman syndrome
- elite association - COSMIC cancer census association via MalaCards
genes like me logo Genes that share disorders with ACTRT3: view

No data available for UniProtKB/Swiss-Prot and Genatlas for ACTRT3 Gene

Publications for ACTRT3 Gene

  1. Identification of two cDNAs for human actin-related proteins (Arps) that have remarkable similarity to conventional actin. (PMID: 11750065) Harata M … Hatta S (Biochimica et biophysica acta 2001) 2 3 4
  2. Nuclear localization of profilin III-ArpM1 complex in mouse spermiogenesis. (PMID: 18692047) Hara Y … Baba T (FEBS letters 2008) 2 3
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4
  4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4
  5. Identification of a melanoma susceptibility locus and somatic mutation in TET2. (PMID: 24980573) Song F … Han J (Carcinogenesis 2014) 3

Products for ACTRT3 Gene

Sources for ACTRT3 Gene