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Human Gene ABR (ENST00000302538.10) from GENCODE V38
  Description: Homo sapiens ABR activator of RhoGEF and GTPase (ABR), transcript variant 1, mRNA. (from RefSeq NM_021962)
RefSeq Summary (NM_021962): 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].
Gencode Transcript: ENST00000302538.10
Gencode Gene: ENSG00000159842.16
Transcript (Including UTRs)
   Position: hg38 chr17:1,003,519-1,179,981 Size: 176,463 Total Exon Count: 23 Strand: -
Coding Region
   Position: hg38 chr17:1,006,080-1,179,727 Size: 173,648 Coding Exon Count: 23 

Page IndexSequence and LinksUniProtKB CommentsMalaCardsCTDRNA-Seq Expression
Microarray ExpressionRNA StructureProtein StructureOther SpeciesGO AnnotationsmRNA Descriptions
PathwaysOther NamesMethods
Data last updated at UCSC: 2021-09-27 09:51:20

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr17:1,003,519-1,179,981)mRNA (may differ from genome)Protein (859 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaBioGPS
CGAPEnsemblEntrez GeneExonPrimerGeneCardsHGNC
HPRDMGIneXtProtOMIMPubMedReactome
UniProtKBWikipedia

-  Comments and Description Text from UniProtKB
  ID: ABR_HUMAN
DESCRIPTION: RecName: Full=Active breakpoint cluster region-related protein;
FUNCTION: GTPase-activating protein for RAC and CDC42. Promotes the exchange of RAC or CDC42-bound GDP by GTP, thereby activating them.
TISSUE SPECIFICITY: Highly enriched in the brain. Much weaker expression in heart, lung and muscle.
SIMILARITY: Contains 1 C2 domain.
SIMILARITY: Contains 1 DH (DBL-homology) domain.
SIMILARITY: Contains 1 PH domain.
SIMILARITY: Contains 1 Rho-GAP domain.
SEQUENCE CAUTION: Sequence=AAC37518.1; Type=Erroneous initiation;

-  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

-  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.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -125.80254-0.495 Picture PostScript Text
3' UTR -1041.902561-0.407 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
IPR000008 - C2_Ca-dep
IPR008973 - C2_Ca/lipid-bd_dom_CaLB
IPR018029 - C2_membr_targeting
IPR000219 - DH-domain
IPR001331 - GDS_CDC24_CS
IPR011993 - PH_like_dom
IPR001849 - Pleckstrin_homology
IPR008936 - Rho_GTPase_activation_prot
IPR000198 - RhoGAP_dom

Pfam Domains:
PF00168 - C2 domain
PF00169 - PH domain
PF00620 - RhoGAP domain
PF00621 - RhoGEF domain

ModBase Predicted Comparative 3D Structure on Q12979
FrontTopSide
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
Genome BrowserGenome BrowserNo orthologNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
MGIRGD    
Protein SequenceProtein Sequence    
AlignmentAlignment    

-  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:0002692 negative regulation of cellular extravasation
GO:0007165 signal transduction
GO:0007186 G-protein coupled receptor signaling pathway
GO:0007264 small GTPase mediated signal transduction
GO:0007420 brain development
GO:0030036 actin cytoskeleton organization
GO:0030336 negative regulation of cell migration
GO:0032496 response to lipopolysaccharide
GO:0035023 regulation of Rho protein signal transduction
GO:0035556 intracellular signal transduction
GO:0042472 inner ear morphogenesis
GO:0043065 positive regulation of apoptotic process
GO:0043114 regulation of vascular permeability
GO:0043314 negative regulation of neutrophil degranulation
GO:0043547 positive regulation of GTPase activity
GO:0050728 negative regulation of inflammatory response
GO:0050766 positive regulation of phagocytosis
GO:0050885 neuromuscular process controlling balance
GO:0051056 regulation of small GTPase mediated signal transduction
GO:0060313 negative regulation of blood vessel remodeling

Cellular Component:
GO:0005829 cytosol
GO:0005886 plasma membrane
GO:0016020 membrane


-  Descriptions from all associated GenBank mRNAs
  BC036807 - Homo sapiens, clone IMAGE:5725920, mRNA.
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.
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.
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.
AK094544 - Homo sapiens cDNA FLJ37225 fis, clone BRAMY2000086.
AK127851 - Homo sapiens cDNA FLJ45954 fis, clone PLACE7009936, highly similar to Active breakpoint cluster region-related protein.
JD341455 - Sequence 322479 from Patent EP1572962.
JD535502 - Sequence 516526 from Patent EP1572962.
JD537953 - Sequence 518977 from Patent EP1572962.
JD535392 - Sequence 516416 from Patent EP1572962.
JD256178 - Sequence 237202 from Patent EP1572962.
JD047482 - Sequence 28506 from Patent EP1572962.
JD341745 - Sequence 322769 from Patent EP1572962.
JD361055 - Sequence 342079 from Patent EP1572962.
JD077233 - Sequence 58257 from Patent EP1572962.
JD355057 - Sequence 336081 from Patent EP1572962.
JD073934 - Sequence 54958 from Patent EP1572962.
JD094070 - Sequence 75094 from Patent EP1572962.
JD250844 - Sequence 231868 from Patent EP1572962.
JD468055 - Sequence 449079 from Patent EP1572962.
JD400306 - Sequence 381330 from Patent EP1572962.
JD193051 - Sequence 174075 from Patent EP1572962.
JD530020 - Sequence 511044 from Patent EP1572962.
JD469276 - Sequence 450300 from Patent EP1572962.
JD328859 - Sequence 309883 from Patent EP1572962.
JD452330 - Sequence 433354 from Patent EP1572962.
DQ571692 - Homo sapiens piRNA piR-31804, complete sequence.
JD337861 - Sequence 318885 from Patent EP1572962.
JD218457 - Sequence 199481 from Patent EP1572962.
JD409953 - Sequence 390977 from Patent EP1572962.
JD385370 - Sequence 366394 from Patent EP1572962.
JD407834 - Sequence 388858 from Patent EP1572962.
JD316384 - Sequence 297408 from Patent EP1572962.
JD270953 - Sequence 251977 from Patent EP1572962.
JD047209 - Sequence 28233 from Patent EP1572962.
JD060616 - Sequence 41640 from Patent EP1572962.
JD316309 - Sequence 297333 from Patent EP1572962.
JD334202 - Sequence 315226 from Patent EP1572962.
JD185603 - Sequence 166627 from Patent EP1572962.
JD383989 - Sequence 365013 from Patent EP1572962.
JD312819 - Sequence 293843 from Patent EP1572962.
BC141909 - Homo sapiens cDNA clone IMAGE:40134403.
JD272356 - Sequence 253380 from Patent EP1572962.
JD180040 - Sequence 161064 from Patent EP1572962.
JD219483 - Sequence 200507 from Patent EP1572962.
JD077834 - Sequence 58858 from Patent EP1572962.
JD446091 - Sequence 427115 from Patent EP1572962.
JD173970 - Sequence 154994 from Patent EP1572962.
JD232117 - Sequence 213141 from Patent EP1572962.
JD109526 - Sequence 90550 from Patent EP1572962.
JD289606 - Sequence 270630 from Patent EP1572962.
JD549869 - Sequence 530893 from Patent EP1572962.
JD420666 - Sequence 401690 from Patent EP1572962.
JD512893 - Sequence 493917 from Patent EP1572962.
JD049605 - Sequence 30629 from Patent EP1572962.
JD305674 - Sequence 286698 from Patent EP1572962.
JD565661 - Sequence 546685 from Patent EP1572962.
JD191475 - Sequence 172499 from Patent EP1572962.
JD422497 - Sequence 403521 from Patent EP1572962.
JD179669 - Sequence 160693 from Patent EP1572962.
JD133417 - Sequence 114441 from Patent EP1572962.
JD494433 - Sequence 475457 from Patent EP1572962.
JD275117 - Sequence 256141 from Patent EP1572962.
JD151142 - Sequence 132166 from Patent EP1572962.
JD559029 - Sequence 540053 from Patent EP1572962.
JD501049 - Sequence 482073 from Patent EP1572962.
JD141191 - Sequence 122215 from Patent EP1572962.
JD097237 - Sequence 78261 from Patent EP1572962.
JD210648 - Sequence 191672 from Patent EP1572962.
JD225807 - Sequence 206831 from Patent EP1572962.
JD327351 - Sequence 308375 from Patent EP1572962.
JD316429 - Sequence 297453 from Patent EP1572962.
JD455177 - Sequence 436201 from Patent EP1572962.
JD120388 - Sequence 101412 from Patent EP1572962.
JD414679 - Sequence 395703 from Patent EP1572962.
JD330211 - Sequence 311235 from Patent EP1572962.
JD222472 - Sequence 203496 from Patent EP1572962.
JD278988 - Sequence 260012 from Patent EP1572962.
JD231862 - Sequence 212886 from Patent EP1572962.
AK300336 - Homo sapiens cDNA FLJ53654 complete cds, highly similar to Active breakpoint cluster region-related protein.
JD368138 - Sequence 349162 from Patent EP1572962.
DQ585972 - Homo sapiens piRNA piR-53084, complete sequence.
AK307827 - Homo sapiens cDNA, FLJ97775.
JD142468 - Sequence 123492 from Patent EP1572962.
JD520425 - Sequence 501449 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein Q12979 (Reactome details) participates in the following event(s):

R-HSA-194913 GEFs activate Rho GTPase:GDP
R-HSA-419166 GEFs activate RhoA,B,C
R-HSA-205039 p75NTR indirectly activates RAC and Cdc42 via a guanyl-nucleotide exchange factor
R-HSA-194922 GAPs inactivate Rho GTPase:GTP by hydrolysis
R-HSA-194840 Rho GTPase cycle
R-HSA-416482 G alpha (12/13) signalling events
R-HSA-193648 NRAGE signals death through JNK
R-HSA-194315 Signaling by Rho GTPases
R-HSA-388396 GPCR downstream signalling
R-HSA-204998 Cell death signalling via NRAGE, NRIF and NADE
R-HSA-162582 Signal Transduction
R-HSA-372790 Signaling by GPCR
R-HSA-193704 p75 NTR receptor-mediated signalling
R-HSA-73887 Death Receptor Signalling

-  Other Names for This Gene
  Alternate Gene Symbols: ABR_HUMAN, D3DTH3, D3DTH4, ENST00000302538.1, ENST00000302538.2, ENST00000302538.3, ENST00000302538.4, ENST00000302538.5, ENST00000302538.6, ENST00000302538.7, ENST00000302538.8, ENST00000302538.9, NM_021962, Q12979, Q13693, Q13694, uc002fsd.1, uc002fsd.2, uc002fsd.3, uc002fsd.4, uc002fsd.5, uc002fsd.6, uc002fsd.7
UCSC ID: ENST00000302538.10
RefSeq Accession: NM_021962
Protein: Q12979 (aka ABR_HUMAN)

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