Aliases for ABRA Gene

Aliases for ABRA Gene

  • Actin Binding Rho Activating Protein 2 3 5
  • Striated Muscle Activator Of Rho-Dependent Signaling 2 3 4
  • STARS 2 3 4
  • Actin-Binding Rho-Activating Protein 3 4
  • ABRA 5

External Ids for ABRA Gene

Previous GeneCards Identifiers for ABRA Gene

  • GC08M107841
  • GC08M103092

Summaries for ABRA Gene

GeneCards Summary for ABRA Gene

ABRA (Actin Binding Rho Activating Protein) is a Protein Coding gene. Diseases associated with ABRA include Granulomatous Angiitis and Superficial Mycosis. Gene Ontology (GO) annotations related to this gene include actin binding and transcription coactivator activity.

UniProtKB/Swiss-Prot Summary for ABRA Gene

  • Acts as an activator of serum response factor (SRF)-dependent transcription possibly by inducing nuclear translocation of MKL1 or MKL2 and through a mechanism requiring Rho-actin signaling.

Gene Wiki entry for ABRA Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for ABRA Gene

Genomics for ABRA Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for ABRA 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
GH08J106765 Promoter/Enhancer 1.5 EPDnew Ensembl ENCODE dbSUPER 600.3 +40.9 40928 5.9 CTCF TARDBP PRDM1 REST MNT RAD21 CTBP1 ZNF444 CUX1 GATA3 ABRA OXR1 HSALNG0067619 piR-59928-148
GH08J106809 Promoter 0.3 EPDnew 600.7 0.0 -2 0.1 ABRA piR-49406-017 ANGPT1
GH08J106974 Enhancer 0.3 Ensembl 4.9 -165.8 -165828 1.4 USF1 ABRA ENSG00000275905 HSALNG0067620 ANGPT1
GH08J107671 Enhancer 0.3 Ensembl 4.3 -864.0 -864028 2.6 CTCF ABRA piR-33730-101 piR-56037-093 ANGPT1 RSPO2
GH08J106928 Enhancer 0.2 Ensembl 4.6 -121.6 -121628 1 ABRA HSALNG0067620 ENSG00000275905 ANGPT1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

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

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

Top Transcription factor binding sites by QIAGEN in the ABRA gene promoter:
  • AML1a
  • E2F
  • FOXI1
  • FOXO3
  • FOXO3a
  • FOXO3b
  • HFH-3
  • PPAR-alpha
  • SRF
  • SRF (504 AA)

Genomic Locations for ABRA Gene

Genomic Locations for ABRA Gene
chr8:106,759,483-106,809,073
(GRCh38/hg38)
Size:
49,591 bases
Orientation:
Minus strand
chr8:107,771,711-107,782,473
(GRCh37/hg19)
Size:
10,763 bases
Orientation:
Minus strand

Genomic View for ABRA Gene

Genes around ABRA on UCSC Golden Path with GeneCards custom track

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

RefSeq DNA sequence for ABRA Gene

Proteins for ABRA Gene

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

    Protein Symbol:
    Q8N0Z2-ABRA_HUMAN
    Recommended name:
    Actin-binding Rho-activating protein
    Protein Accession:
    Q8N0Z2

    Protein attributes for ABRA Gene

    Size:
    381 amino acids
    Molecular mass:
    43117 Da
    Quaternary structure:
    • Binds F-actin and ABLIM1, ABLIM2 AND ABLIM3. Interaction with ABLIM2 AND ABLIM3 enhances activity (By similarity).

neXtProt entry for ABRA Gene

Post-translational modifications for ABRA Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for ABRA Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for ABRA Gene

Domains & Families for ABRA Gene

Gene Families for ABRA Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for ABRA Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for ABRA Gene

GenScript: Design optimal peptide antigens:
  • Striated muscle activator of Rho-dependent signaling (ABRA_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q8N0Z2

UniProtKB/Swiss-Prot:

ABRA_HUMAN :
  • The actin-binding domain 1 (ABD1) is intrinsically disordered, and binds to F-actin with higher affinity than ABD2.
Domain:
  • The actin-binding domain 1 (ABD1) is intrinsically disordered, and binds to F-actin with higher affinity than ABD2.
genes like me logo Genes that share domains with ABRA: view

Function for ABRA Gene

Molecular function for ABRA Gene

UniProtKB/Swiss-Prot Function:
Acts as an activator of serum response factor (SRF)-dependent transcription possibly by inducing nuclear translocation of MKL1 or MKL2 and through a mechanism requiring Rho-actin signaling.

Phenotypes From GWAS Catalog for ABRA Gene

Gene Ontology (GO) - Molecular Function for ABRA Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003779 actin binding ISS --
genes like me logo Genes that share ontologies with ABRA: view
genes like me logo Genes that share phenotypes with ABRA: view

Animal Models for ABRA Gene

MGI Knock Outs for ABRA:

Animal Model Products

CRISPR Products

miRNA for ABRA Gene

miRTarBase miRNAs that target ABRA

Inhibitory RNA Products

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

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for ABRA Gene

Localization for ABRA Gene

Subcellular locations from UniProtKB/Swiss-Prot for ABRA Gene

Cytoplasm, myofibril, sarcomere. Cytoplasm, cytoskeleton. Note=Localized to the I-band of the sarcomere and to a lesser extent to the sarcomeric structure between Z-lines. {ECO:0000250}.

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 ABRA gene
Compartment Confidence
plasma membrane 4
cytoskeleton 4
nucleus 3
mitochondrion 2
extracellular 1
endoplasmic reticulum 1
endosome 1
cytosol 1
lysosome 1
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for ABRA Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0005856 cytoskeleton IEA --
GO:0005886 plasma membrane IDA --
GO:0015629 actin cytoskeleton IEA,ISS --
GO:0030016 myofibril IEA --
genes like me logo Genes that share ontologies with ABRA: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for ABRA Gene

Pathways & Interactions for ABRA Gene

PathCards logo

SuperPathways for ABRA Gene

No Data Available

Gene Ontology (GO) - Biological Process for ABRA Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006606 protein import into nucleus IEA --
GO:0015031 protein transport IEA --
GO:0035025 positive regulation of Rho protein signal transduction ISS --
GO:0045893 positive regulation of transcription, DNA-templated IEA,IBA 21873635
GO:0045944 positive regulation of transcription by RNA polymerase II IEA,IBA 21873635
genes like me logo Genes that share ontologies with ABRA: view

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

Drugs & Compounds for ABRA Gene

No Compound Related Data Available

Transcripts for ABRA Gene

mRNA/cDNA for ABRA Gene

1 REFSEQ mRNAs :
7 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 ABRA

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

No ASD Table

Relevant External Links for ABRA Gene

GeneLoc Exon Structure for
ABRA

Expression for ABRA Gene

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

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

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

This gene is overexpressed in Muscle - Skeletal (x30.2), Heart - Atrial Appendage (x9.7), and Heart - Left Ventricle (x7.6).

Protein differential expression in normal tissues from HIPED for ABRA Gene

This gene is overexpressed in Heart (69.0).

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



Protein tissue co-expression partners for ABRA Gene

- Elite partner

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

SOURCE GeneReport for Unigene cluster for ABRA Gene:

Hs.374668

Evidence on tissue expression from TISSUES for ABRA Gene

  • Heart(4.5)
  • Muscle(3.5)
  • Skin(2.6)
  • Nervous system(2.3)
genes like me logo Genes that share expression patterns with ABRA: view

No data available for mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for ABRA Gene

Orthologs for ABRA Gene

This gene was present in the common ancestor of animals.

Orthologs for ABRA Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia ABRA 30 31
  • 99.39 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia ABRA 30 31
  • 86.23 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia ABRA 30 31
  • 84.6 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Abra 30 17 31
  • 83.11 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Abra 30
  • 82.58 (n)
Oppossum
(Monodelphis domestica)
Mammalia -- 31
  • 72 (a)
OneToMany
-- 31
  • 49 (a)
OneToMany
Platypus
(Ornithorhynchus anatinus)
Mammalia ABRA 31
  • 65 (a)
OneToOne
Chicken
(Gallus gallus)
Aves ABRA 30 31
  • 65.25 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia ABRA 31
  • 61 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia abra 30
  • 65.82 (n)
Zebrafish
(Danio rerio)
Actinopterygii abrab 30 31
  • 57.28 (n)
OneToOne
Rainbow Trout
(Oncorhynchus mykiss)
Actinopterygii Omy.14076 30
Fruit Fly
(Drosophila melanogaster)
Insecta CG2113 31
  • 28 (a)
OneToMany
CG3630 31
  • 18 (a)
OneToMany
Worm
(Caenorhabditis elegans)
Secernentea F36F2.1 30 31
  • 55.99 (n)
OneToMany
tag-243 31
  • 24 (a)
OneToMany
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 43 (a)
OneToOne
Species where no ortholog for ABRA 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)
  • 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)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • 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)
  • Wheat (Triticum aestivum)

Evolution for ABRA Gene

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

Paralogs for ABRA Gene

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

  • ABRA_HUMAN
genes like me logo Genes that share paralogs with ABRA: view

No data available for Paralogs for ABRA Gene

Variants for ABRA Gene

Additional dbSNP identifiers (rs#s) for ABRA Gene

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

Variant ID Type Subtype PubMed ID
nsv1032991 CNV gain 25217958
nsv611846 CNV loss 21841781
nsv831419 CNV loss 17160897

Variation tolerance for ABRA Gene

Residual Variation Intolerance Score: 24.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.32; 53.45% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for ABRA Gene

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

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for ABRA Gene

Disorders for ABRA Gene

MalaCards: The human disease database

(8) MalaCards diseases for ABRA Gene - From: DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
granulomatous angiitis
  • vasculitis, central nervous system
superficial mycosis
  • piedra
inclusion body myopathy with early-onset paget disease of bone with or without frontotemporal dementia 3
  • ibmpfd3
compartment syndrome
  • compartmental syndrome
skeletal muscle neoplasm
  • tumor of skeletal muscle
- elite association - COSMIC cancer census association via MalaCards
Search ABRA in MalaCards View complete list of genes associated with diseases

Additional Disease Information for ABRA

genes like me logo Genes that share disorders with ABRA: view

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

Publications for ABRA Gene

  1. STARS, a striated muscle activator of Rho signaling and serum response factor-dependent transcription. (PMID: 11983702) Arai A … Olson EN (The Journal of biological chemistry 2002) 2 3 4
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4
  3. 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
  4. A reference map of the human binary protein interactome. (PMID: 32296183) Luck K … Calderwood MA (Nature 2020) 3
  5. Expression of striated activator of rho-signaling in human skeletal muscle following acute exercise and long-term training. (PMID: 29504288) Reitzner SM … Gidlund EK (Physiological reports 2018) 3

Products for ABRA Gene

Sources for ABRA Gene