Human Gene ABRA (uc003ymm.4) Description and Page Index
  Description: Homo sapiens actin-binding Rho activating protein (ABRA), mRNA.
Transcript (Including UTRs)
   Position: hg19 chr8:107,771,711-107,782,472 Size: 10,762 Total Exon Count: 2 Strand: -
Coding Region
   Position: hg19 chr8:107,773,265-107,782,418 Size: 9,154 Coding Exon Count: 2 

Page IndexSequence and LinksUniProtKB CommentsGenetic AssociationsMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsOther NamesModel InformationMethods
Data last updated: 2013-06-14

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr8:107,771,711-107,782,472)mRNA (may differ from genome)Protein (381 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
BioGPSCGAPEnsemblEntrez GeneExonPrimerGeneCards
GeneNetworkH-INVHGNCHPRDLynxMGI
neXtProtOMIMPubMedStanford SOURCETreefamUniProtKB
Wikipedia

-  Comments and Description Text from UniProtKB
  ID: ABRA_HUMAN
DESCRIPTION: RecName: Full=Actin-binding Rho-activating protein; AltName: Full=Striated muscle activator of Rho-dependent signaling; Short=STARS;
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 (By similarity).
SUBUNIT: Binds F-actin and ABLIM1, ABLIM2 AND ABLIM3. Interaction with ABLIM2 AND ABLIM3 enhances activity (By similarity).
SUBCELLULAR LOCATION: Cytoplasm, myofibril, sarcomere (By similarity). Cytoplasm, cytoskeleton (By similarity). Note=Localized to the I-band of the sarcomere and to a lesser extent to the sarcomeric structure between Z-lines (By similarity).

-  Genetic Association Studies of Complex Diseases and Disorders
  Genetic Association Database (archive): ABRA
CDC HuGE Published Literature: ABRA
Positive Disease Associations: Body Mass Index , Cholesterol , Cholesterol, LDL , Echocardiography , Intercellular Adhesion Molecule-1 , Lipoprotein(a) , Lipoproteins, VLDL , Macular Degeneration
Related Studies:
  1. Body Mass Index
    Caroline S Fox et al. BMC medical genetics 2007, Genome-wide association to body mass index and waist circumference: the Framingham Heart Study 100K project., BMC medical genetics. [PubMed 17903300]
    Adiposity traits are associated with SNPs on the Affymetrix 100K SNP GeneChip. Replication of these initial findings is necessary. These data will serve as a resource for replication as more genes become identified with BMI and WC.
  2. Cholesterol
    , , . [PubMed 0]
  3. Cholesterol, LDL
    , , . [PubMed 0]
           more ... click here to view the complete list

-  MalaCards Disease Associations
  MalaCards Gene Search: ABRA
Diseases sorted by gene-association score: malaria (2), granulomatous angiitis (2)

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
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-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 34.19 RPKM in Muscle - Skeletal
Total median expression: 59.80 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
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-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -8.8054-0.163 Picture PostScript Text
3' UTR -373.871554-0.241 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR026111 - Abra

Pfam Domains:
PF14705 - Costars

ModBase Predicted Comparative 3D Structure on Q8N0Z2
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The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologGenome BrowserGenome BrowserGenome BrowserGenome BrowserNo ortholog
Gene DetailsGene Details Gene DetailsGene Details 
Gene SorterGene Sorter Gene SorterGene Sorter 
 RGDEnsemblFlyBaseWormBase 
 Protein SequenceProtein SequenceProtein SequenceProtein Sequence 
 AlignmentAlignmentAlignmentAlignment 

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0003779 actin binding

Biological Process:
GO:0000060 protein import into nucleus, translocation
GO:0006351 transcription, DNA-templated
GO:0006355 regulation of transcription, DNA-templated
GO:0015031 protein transport
GO:0035025 positive regulation of Rho protein signal transduction
GO:0045893 positive regulation of transcription, DNA-templated
GO:0045944 positive regulation of transcription from RNA polymerase II promoter
GO:0051091 positive regulation of sequence-specific DNA binding transcription factor activity

Cellular Component:
GO:0005737 cytoplasm
GO:0005856 cytoskeleton
GO:0005886 plasma membrane
GO:0015629 actin cytoskeleton
GO:0030016 myofibril
GO:0030017 sarcomere


-  Descriptions from all associated GenBank mRNAs
  AL832152 - Homo sapiens mRNA; cDNA DKFZp686C0314 (from clone DKFZp686C0314).
AK056976 - Homo sapiens cDNA FLJ32414 fis, clone SKMUS2000710.
AL833422 - Homo sapiens mRNA; cDNA DKFZp313H0139 (from clone DKFZp313H0139).
JD486938 - Sequence 467962 from Patent EP1572962.
AK092694 - Homo sapiens cDNA FLJ35375 fis, clone SKMUS2002634.
AX747674 - Sequence 1199 from Patent EP1308459.
BC105103 - Homo sapiens actin-binding Rho activating protein, mRNA (cDNA clone MGC:132763 IMAGE:8144106), complete cds.
BC105105 - Homo sapiens actin-binding Rho activating protein, mRNA (cDNA clone MGC:132765 IMAGE:8144108), complete cds.
AF503617 - Homo sapiens STARS mRNA, complete cds.
AB463396 - Synthetic construct DNA, clone: pF1KB8356, Homo sapiens ABRA gene for actin-binding Rho activating protein, without stop codon, in Flexi system.
AM393063 - Synthetic construct Homo sapiens clone IMAGE:100002528 for hypothetical protein (ABRA gene).
JD212128 - Sequence 193152 from Patent EP1572962.
JD299506 - Sequence 280530 from Patent EP1572962.
JD359272 - Sequence 340296 from Patent EP1572962.

-  Other Names for This Gene
  Alternate Gene Symbols: ABRA_HUMAN, NM_139166, NP_631905, Q8N0Z2
UCSC ID: uc003ymm.4
RefSeq Accession: NM_139166
Protein: Q8N0Z2 (aka ABRA_HUMAN)
CCDS: CCDS6305.1

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: NM_139166.4
exon count: 2CDS single in 3' UTR: no RNA size: 2831
ORF size: 1146CDS single in intron: no Alignment % ID: 100.00
txCdsPredict score: 2492.00frame shift in genome: no % Coverage: 97.28
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: yes retained intron: no # AT/AC introns 0
selenocysteine: no end bleed into intron: 0# strange splices: 0
Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.