Human Gene ABRAXAS2 (ENST00000298492.6_4) from GENCODE V47lift37
  Description: abraxas 2, BRISC complex subunit (from RefSeq NM_032182.4)
Gencode Transcript: ENST00000298492.6_4
Gencode Gene: ENSG00000165660.8_10
Transcript (Including UTRs)
   Position: hg19 chr10:126,490,388-126,525,236 Size: 34,849 Total Exon Count: 9 Strand: +
Coding Region
   Position: hg19 chr10:126,490,399-126,523,540 Size: 33,142 Coding Exon Count: 9 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsGene Alleles
RNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr10:126,490,388-126,525,236)mRNA (may differ from genome)Protein (415 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneTable SchemaAlphaFold
BioGPSEnsemblEntrez GeneExonPrimerGeneCardsMalacards
MGIOMIMPubMedReactomeUniProtKBWikipedia
BioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: F175B_HUMAN
DESCRIPTION: RecName: Full=BRISC complex subunit Abro1; AltName: Full=Abraxas brother protein 1; AltName: Full=Protein FAM175B;
FUNCTION: Component of the BRISC complex, a multiprotein complex that specifically cleaves 'Lys-63'-linked ubiquitin. May act as a central scaffold protein that assembles the various components of the BRISC complex.
SUBUNIT: Component of the BRISC complex, at least composed of the FAM175B/ABRO1, BRCC3/BRCC36, BRE/BRCC45 and BABAM1/NBA1. Does not interact with BRCA1. Binds polyubiquitin.
DOMAIN: The MPN-like region is similar to the MPN (JAB/Mov34) domain.
SIMILARITY: Belongs to the FAM175 family. Abro1 subfamily.
CAUTION: Although strongly related to the FAM175A/CCDC98 protein, lacks the C-terminal pSXXF that constitutes a specific recognition motif for the BRCT domain of BRCA1.
SEQUENCE CAUTION: Sequence=BAA09927.1; Type=Erroneous initiation;

-  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


-  MalaCards Disease Associations
  MalaCards Gene Search: ABRAXAS2
Diseases sorted by gene-association score: myocardial infarction (3)

+  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: 10.98 RPKM in Cells - EBV-transformed lymphocytes
Total median expression: 298.24 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
3' UTR -389.801696-0.230 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
IPR023238 - FAM175
IPR023240 - FAM175_BRISC_cplx_Abro1_su

SCOP Domains:
116927 - EspA/CesA-like
58100 - Bacterial hemolysins

ModBase Predicted Comparative 3D Structure on Q15018
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
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
Gene SorterGene Sorter    
 RGDEnsembl   
      
      

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0005515 protein binding
GO:0008017 microtubule binding
GO:0031593 polyubiquitin binding

Biological Process:
GO:0000278 mitotic cell cycle
GO:0002931 response to ischemia
GO:0007049 cell cycle
GO:0007059 chromosome segregation
GO:0008608 attachment of spindle microtubules to kinetochore
GO:0016579 protein deubiquitination
GO:0051301 cell division
GO:0070536 protein K63-linked deubiquitination
GO:0090307 mitotic spindle assembly

Cellular Component:
GO:0000922 spindle pole
GO:0005634 nucleus
GO:0005737 cytoplasm
GO:0005829 cytosol
GO:0005856 cytoskeleton
GO:0005874 microtubule
GO:0070552 BRISC complex
GO:0005813 centrosome
GO:0030496 midbody
GO:0031616 spindle pole centrosome
GO:0036449 microtubule minus-end


-  Descriptions from all associated GenBank mRNAs
  AK296677 - Homo sapiens cDNA FLJ60642 complete cds.
D63877 - Homo sapiens mRNA for KIAA0157 gene.
BC008999 - Homo sapiens family with sequence similarity 175, member B, mRNA (cDNA clone MGC:17346 IMAGE:2900632), complete cds.
AB383774 - Synthetic construct DNA, clone: pF1KSDA0157, Homo sapiens KIAA0157 gene for KIAA0157 protein, complete cds, without stop codon, in Flexi system.
JD211963 - Sequence 192987 from Patent EP1572962.
JD323428 - Sequence 304452 from Patent EP1572962.
JD106340 - Sequence 87364 from Patent EP1572962.
CU679221 - Synthetic construct Homo sapiens gateway clone IMAGE:100018834 5' read KIAA0157 mRNA.
KJ902293 - Synthetic construct Homo sapiens clone ccsbBroadEn_11687 FAM175B gene, encodes complete protein.
AK025991 - Homo sapiens cDNA: FLJ22338 fis, clone HRC05981.
JD066862 - Sequence 47886 from Patent EP1572962.
JD184293 - Sequence 165317 from Patent EP1572962.
JD284481 - Sequence 265505 from Patent EP1572962.
JD498219 - Sequence 479243 from Patent EP1572962.
JD301949 - Sequence 282973 from Patent EP1572962.
JD304791 - Sequence 285815 from Patent EP1572962.
JD177366 - Sequence 158390 from Patent EP1572962.
JD291516 - Sequence 272540 from Patent EP1572962.
JD284904 - Sequence 265928 from Patent EP1572962.
JD313571 - Sequence 294595 from Patent EP1572962.
JD351627 - Sequence 332651 from Patent EP1572962.
JD284463 - Sequence 265487 from Patent EP1572962.
JD550528 - Sequence 531552 from Patent EP1572962.
JD412068 - Sequence 393092 from Patent EP1572962.

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

Protein Q15018 (Reactome details) participates in the following event(s):

R-HSA-5691439 BRISC complex deubiquitinates NLRP3
R-HSA-5689901 Metalloprotease DUBs
R-HSA-5688426 Deubiquitination
R-HSA-597592 Post-translational protein modification
R-HSA-392499 Metabolism of proteins

-  Other Names for This Gene
  Alternate Gene Symbols: ABRAXAS2 , ABRO1 , ABRX2_HUMAN, B4DKR2, ENST00000298492.1, ENST00000298492.2, ENST00000298492.3, ENST00000298492.4, ENST00000298492.5, FAM175B , KIAA0157 , NM_032182, Q15018, Q96H11, uc317mer.1, uc317mer.2
UCSC ID: ENST00000298492.6_4
RefSeq Accession: NM_032182.4
Protein: Q15018 (aka F175B_HUMAN)

-  Gene Model Information
  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.