Human Gene ABR (uc002fsh.1)
  Description: Homo sapiens active BCR-related (ABR), transcript variant 2, mRNA.
RefSeq Summary (NM_001159746): This gene encodes a protein that is similar to the protein encoded by the breakpoint cluster region gene located on chromosome 22. The protein encoded by this gene contains a GTPase-activating protein domain, a domain found in members of the Rho family of GTP-binding proteins. Functional studies in mice determined that this protein plays a role in vestibular morphogenesis. Alternatively spliced transcript variants have been reported for this gene. [provided by RefSeq, Feb 2012].
Transcript (Including UTRs)
   Position: hg19 chr17:913,969-995,100 Size: 81,132 Total Exon Count: 9 Strand: -
Coding Region
   Position: hg19 chr17:913,970-995,087 Size: 81,118 Coding Exon Count: 9 

Page IndexSequence and LinksUniProtKB CommentsPrimersGenetic AssociationsMalaCards
CTDGene AllelesRNA-Seq ExpressionMicroarray ExpressionProtein StructureOther Species
GO AnnotationsmRNA DescriptionsOther NamesModel InformationMethods
Data last updated at UCSC: 2013-06-14

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr17:913,969-995,100)mRNA (may differ from genome)Protein (353 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
H-INVHGNCLynxMalacardsMGIOMIM
PubMedTreefamUniProtKBBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: Q6ZT60_HUMAN
DESCRIPTION: SubName: Full=cDNA FLJ44934 fis, clone BRAMY3017920, highly similar to Active breakpoint cluster region-related protein;
SIMILARITY: Contains 1 DH (DBL-homology) domain.
SIMILARITY: Contains 1 Rho-GAP domain.

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  Genetic Association Studies of Complex Diseases and Disorders
  Genetic Association Database (archive): ABR
CDC HuGE Published Literature: ABR

-  MalaCards Disease Associations
  MalaCards Gene Search: ABR
Diseases sorted by gene-association score: retroperitoneal neuroblastoma (2)

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

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 24.42 RPKM in Brain - Frontal Cortex (BA9)
Total median expression: 478.26 RPKM



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

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR000219 - DH-domain
IPR001331 - GDS_CDC24_CS
IPR011993 - PH_like_dom
IPR008936 - Rho_GTPase_activation_prot
IPR000198 - RhoGAP_dom

Pfam Domains:
PF00620 - RhoGAP domain
PF00621 - RhoGEF domain

SCOP Domains:
48350 - GTPase activation domain, GAP
48065 - DBL homology domain (DH-domain)
50729 - PH domain-like

ModBase Predicted Comparative 3D Structure on Q6ZT60
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-  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 orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
      
      
      

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0005085 guanyl-nucleotide exchange factor activity
GO:0005089 Rho guanyl-nucleotide exchange factor activity
GO:0005096 GTPase activator activity

Biological Process:
GO:0007165 signal transduction
GO:0035023 regulation of Rho protein signal transduction
GO:0035556 intracellular signal transduction
GO:0043547 positive regulation of GTPase activity

Cellular Component:
GO:0005622 intracellular


-  Descriptions from all associated GenBank mRNAs
  U01147 - Human guanine nucleotide regulatory protein (ABR) mRNA, complete cds.
AK124547 - Homo sapiens cDNA FLJ42556 fis, clone BRACE3005760, highly similar to Active breakpoint cluster region-related protein.
AK126882 - Homo sapiens cDNA FLJ44934 fis, clone BRAMY3017920, highly similar to Active breakpoint cluster region-related protein.
AK302682 - Homo sapiens cDNA FLJ60982 complete cds, highly similar to Active breakpoint cluster region-related protein.
BC172517 - Synthetic construct Homo sapiens clone IMAGE:100069211, MGC:199222 active BCR-related gene (ABR) mRNA, encodes complete protein.
BC156483 - Synthetic construct Homo sapiens clone IMAGE:100063042, MGC:190674 active BCR-related gene (ABR) mRNA, encodes complete protein.
AB384846 - Synthetic construct DNA, clone: pF1KB3726, Homo sapiens ABR gene for active breakpoint cluster region-related protein, complete cds, without stop codon, in Flexi system.
AK299909 - Homo sapiens cDNA FLJ54747 complete cds, highly similar to Active breakpoint cluster region-related protein.
AK295191 - Homo sapiens cDNA FLJ60543 complete cds, highly similar to Active breakpoint cluster region-related protein.
AK300336 - Homo sapiens cDNA FLJ53654 complete cds, highly similar to Active breakpoint cluster region-related protein.
AK127851 - Homo sapiens cDNA FLJ45954 fis, clone PLACE7009936, highly similar to Active breakpoint cluster region-related protein.
AK307827 - Homo sapiens cDNA, FLJ97775.

-  Other Names for This Gene
  Alternate Gene Symbols: AK126882, NM_001159746, NP_001153218, Q6ZT60, Q6ZT60_HUMAN
UCSC ID: uc002fsh.1
RefSeq Accession: NM_001159746
Protein: Q6ZT60

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: AK126882.1
exon count: 9CDS single in 3' UTR: no RNA size: 4277
ORF size: 1059CDS single in intron: no Alignment % ID: 99.93
txCdsPredict score: 1777.00frame shift in genome: no % Coverage: 24.48
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: no retained intron: no # AT/AC introns 0
selenocysteine: no end bleed into intron: 10# 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.