Human Gene UIMC1 (ENST00000511320.6) from GENCODE V44
  Description: Homo sapiens ubiquitin interaction motif containing 1 (UIMC1), transcript variant 6, non-coding RNA. (from RefSeq NR_146150)
RefSeq Summary (NM_001199298): This gene encodes a nuclear protein that interacts with Brca1 (breast cancer 1) in a complex to recognize and repair DNA lesions. This protein binds ubiquitinated lysine 63 of histone H2A and H2AX. This protein may also function as a repressor of transcription. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2015].
Gencode Transcript: ENST00000511320.6
Gencode Gene: ENSG00000087206.17
Transcript (Including UTRs)
   Position: hg38 chr5:176,905,006-177,006,779 Size: 101,774 Total Exon Count: 15 Strand: -
Coding Region
   Position: hg38 chr5:176,905,282-176,982,615 Size: 77,334 Coding Exon Count: 14 

Page IndexSequence and LinksUniProtKB CommentsPrimersCTDRNA-Seq Expression
Microarray ExpressionRNA StructureProtein StructureOther SpeciesGO AnnotationsmRNA Descriptions
PathwaysOther NamesMethods
Data last updated at UCSC: 2023-08-18 00:09:47

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr5:176,905,006-177,006,779)mRNA (may differ from genome)Protein (719 aa)
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HGNCHPRDLynxMalacardsMGIneXtProt
OMIMPubMedReactomeUniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: UIMC1_HUMAN
DESCRIPTION: RecName: Full=BRCA1-A complex subunit RAP80; AltName: Full=Receptor-associated protein 80; AltName: Full=Retinoid X receptor-interacting protein 110; AltName: Full=Ubiquitin interaction motif-containing protein 1;
FUNCTION: Ubiquitin-binding protein that specifically recognizes and binds 'Lys-63'-linked ubiquitin. Plays a central role in the BRCA1-A complex by specifically binding 'Lys-63'-linked ubiquitinated histones H2A and H2AX at DNA lesions sites, leading to target the BRCA1-BARD1 heterodimer to sites of DNA damage at double-strand breaks (DSBs). The BRCA1-A complex also possesses deubiquitinase activity that specifically removes 'Lys-63'-linked ubiquitin on histones H2A and H2AX. Also weakly binds monoubiquitin but with much less affinity than 'Lys-63'-linked ubiquitin. May interact with monoubiquitinated histones H2A and H2B; the relevance of such results is however unclear in vivo. Does not bind Lys-48'-linked ubiquitin. May indirectly act as a transcriptional repressor by inhibiting the interaction of NR6A1 with the corepressor NCOR1.
SUBUNIT: Interacts with TSP57 (By similarity). Component of the BRCA1-A complex, at least composed of the BRCA1, BARD1, UIMC1/RAP80, FAM175A/Abraxas, BRCC3/BRCC36, BRE/BRCC45 and BABAM1/NBA1. In the BRCA1-A complex, interacts directly with FAM175A/Abraxas. Interacts with ESR1, NR6A1 and UBE2I.
INTERACTION: P38398:BRCA1; NbExp=9; IntAct=EBI-725300, EBI-349905; Q6UWZ7:FAM175A; NbExp=9; IntAct=EBI-725300, EBI-1263451;
SUBCELLULAR LOCATION: Nucleus. Note=Localizes at sites of DNA damage at double-strand breaks (DSBs).
TISSUE SPECIFICITY: Expressed in testis, ovary, thymus and heart. Expressed in germ cells of the testis.
DOMAIN: The UIM-linker region between the 2 UIM repeats determines the selectivity for 'Lys-63'-linked ubiquitin. The length of the linker is important. The linker reduces the flexibility between the UIM repeats and promotes high-affinity and linkage-selective interactions.
DOMAIN: The Abraxas-interacting region (AIR) mediates the interaction with FAM175A/Abraxas.
PTM: Sumoylated.
PTM: Phosphorylated upon DNA damage by ATM or ATR.
SIMILARITY: Belongs to the RAP80 family.
SIMILARITY: Contains 2 UIM (ubiquitin-interacting motif) repeats.
SEQUENCE CAUTION: Sequence=AAH06078.1; Type=Erroneous termination; Positions=386; Note=Translated as Glu;

-  Primer design for this transcript
 

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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


-  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: 43.58 RPKM in Testis
Total median expression: 545.73 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 -47.30138-0.343 Picture PostScript Text
3' UTR -54.60276-0.198 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
IPR003903 - Ubiquitin-int_motif

Protein Data Bank (PDB) 3-D Structure
MuPIT help
2RR9 - NMR MuPIT


ModBase Predicted Comparative 3D Structure on Q96RL1
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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
Genome BrowserGenome BrowserGenome BrowserNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
MGIRGDEnsembl   
Protein SequenceProtein SequenceProtein Sequence   
AlignmentAlignmentAlignment   

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0005515 protein binding
GO:0042393 histone binding
GO:0070530 K63-linked polyubiquitin binding

Biological Process:
GO:0006281 DNA repair
GO:0006302 double-strand break repair
GO:0006303 double-strand break repair via nonhomologous end joining
GO:0006325 chromatin organization
GO:0006351 transcription, DNA-templated
GO:0006355 regulation of transcription, DNA-templated
GO:0006974 cellular response to DNA damage stimulus
GO:0010212 response to ionizing radiation
GO:0016579 protein deubiquitination
GO:0045739 positive regulation of DNA repair
GO:0045892 negative regulation of transcription, DNA-templated
GO:0070537 histone H2A K63-linked deubiquitination
GO:0072425 signal transduction involved in G2 DNA damage checkpoint

Cellular Component:
GO:0005634 nucleus
GO:0005654 nucleoplasm
GO:0016604 nuclear body
GO:0070531 BRCA1-A complex


-  Descriptions from all associated GenBank mRNAs
  BX537376 - Homo sapiens mRNA; cDNA DKFZp686C17196 (from clone DKFZp686C17196).
AF113538 - Homo sapiens retinoid x receptor interacting protein mRNA, complete cds.
AF284749 - Homo sapiens XHRIP110 (XHRIP110) mRNA, complete cds.
AF284753 - Homo sapiens X2HRIP110 (X2HRIP110) mRNA, complete cds.
BC032561 - Homo sapiens ubiquitin interaction motif containing 1, mRNA (cDNA clone MGC:45089 IMAGE:5578134), complete cds.
BC006078 - Homo sapiens ubiquitin interaction motif containing 1, mRNA (cDNA clone MGC:12552 IMAGE:3659756), complete cds.
AF349313 - Homo sapiens nuclear zinc finger protein RAP80 (RAP80) mRNA, complete cds.
AK023044 - Homo sapiens cDNA FLJ12982 fis, clone NT2RP2006598, highly similar to Retinoid X receptor-interacting protein 110.
EU831931 - Synthetic construct Homo sapiens clone HAIB:100066960; DKFZo008C0823 ubiquitin interaction motif containing 1 protein (UIMC1) gene, encodes complete protein.
EU832026 - Synthetic construct Homo sapiens clone HAIB:100067055; DKFZo004C0824 ubiquitin interaction motif containing 1 protein (UIMC1) gene, encodes complete protein.
JF432220 - Synthetic construct Homo sapiens clone IMAGE:100073384 ubiquitin interaction motif containing 1 (UIMC1) gene, encodes complete protein.
KJ902619 - Synthetic construct Homo sapiens clone ccsbBroadEn_12013 UIMC1 gene, encodes complete protein.
AB385233 - Synthetic construct DNA, clone: pF1KB9475, Homo sapiens UIMC1 gene for ubiquitin interaction motif-containing protein 1, complete cds, without stop codon, in Flexi system.
EF077644 - Homo sapiens clone E9M13A-YS receptor-associated protein 80-like (RAP80) mRNA, partial sequence, alternatively spliced.
EF077642 - Homo sapiens clone E9P-YS receptor-associated protein 80-like (RAP80) mRNA, partial sequence, alternatively spliced.
AL137375 - Homo sapiens mRNA; cDNA DKFZp434I1926 (from clone DKFZp434I1926); partial cds.
JD268571 - Sequence 249595 from Patent EP1572962.
EF077643 - Homo sapiens clone E13A-YS receptor-associated protein 80-like (RAP80) mRNA, partial sequence, alternatively spliced.
CU689424 - Synthetic construct Homo sapiens gateway clone IMAGE:100019851 5' read UIMC1 mRNA.
AK304794 - Homo sapiens cDNA FLJ52953 complete cds, highly similar to Retinoid X receptor-interacting protein 110.

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

Protein Q96RL1 (Reactome details) participates in the following event(s):

R-HSA-5683384 UIMC1 and FAM175A bind DNA DSBs
R-HSA-5684071 RNF4 ubiquitinates MDC1
R-HSA-5686685 RIF1 and PAX1IP bind TP53BP1 at DNA DSBs
R-HSA-5683385 Formation of BRCA1-A complex at DNA DSBs
R-HSA-5693551 Phosphorylation of BRCA1-A complex at multiple sites by ATM
R-HSA-5691411 BRCA1-A complex deubiquitinates K63polyUb-histone H2A
R-HSA-5683735 CHEK2 is recruited to DNA DSBs
R-HSA-5683801 CHEK2 phosphorylates BRCA1
R-HSA-69891 Phosphorylation and activation of CHEK2 by ATM
R-HSA-5684052 PIAS4 SUMOylates MDC1
R-HSA-5693565 Recruitment and ATM-mediated phosphorylation of repair and signaling proteins at DNA double strand breaks
R-HSA-5693607 Processing of DNA double-strand break ends
R-HSA-5693571 Nonhomologous End-Joining (NHEJ)
R-HSA-5693606 DNA Double Strand Break Response
R-HSA-5693567 HDR through Homologous Recombination (HR) or Single Strand Annealing (SSA)
R-HSA-5693532 DNA Double-Strand Break Repair
R-HSA-5689901 Metalloprotease DUBs
R-HSA-69473 G2/M DNA damage checkpoint
R-HSA-5693538 Homology Directed Repair
R-HSA-73894 DNA Repair
R-HSA-5688426 Deubiquitination
R-HSA-69481 G2/M Checkpoints
R-HSA-597592 Post-translational protein modification
R-HSA-69620 Cell Cycle Checkpoints
R-HSA-392499 Metabolism of proteins
R-HSA-1640170 Cell Cycle

-  Other Names for This Gene
  Alternate Gene Symbols: A8MSA1, B3KMZ1, B4E3N2, ENST00000511320.1, ENST00000511320.2, ENST00000511320.3, ENST00000511320.4, ENST00000511320.5, NR_146150, Q5XKQ1, Q7Z3W7, Q8N5B9, Q96RL1, Q9BZR1, Q9BZR5, Q9UHX7, RAP80, RXRIP110, uc063kao.1, uc063kao.2, UIMC1_HUMAN
UCSC ID: ENST00000511320.6
RefSeq Accession: NM_001199298
Protein: Q96RL1 (aka UIMC1_HUMAN)
CCDS: CCDS4408.1

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