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Aliases for UIMC1 Gene

Aliases for UIMC1 Gene

  • Ubiquitin Interaction Motif Containing 1 2 3 5
  • Retinoid X Receptor-Interacting Protein 110 3 4
  • Receptor-Associated Protein 80 3 4
  • RAP80 3 4
  • Ubiquitin Interaction Motif-Containing Protein 1 4
  • Receptor Associated Protein 80 2
  • X2HRIP110 3
  • RXRIP110 4

External Ids for UIMC1 Gene

Previous GeneCards Identifiers for UIMC1 Gene

  • GC05M176265
  • GC05M171254

Summaries for UIMC1 Gene

Entrez Gene Summary for UIMC1 Gene

  • 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]

GeneCards Summary for UIMC1 Gene

UIMC1 (Ubiquitin Interaction Motif Containing 1) is a Protein Coding gene. Diseases associated with UIMC1 include Familial Breast Cancer. Among its related pathways are Cell Cycle Checkpoints and DNA Double-Strand Break Repair. GO annotations related to this gene include histone binding and K63-linked polyubiquitin binding.

UniProtKB/Swiss-Prot for UIMC1 Gene

  • Ubiquitin-binding protein (PubMed:24627472). Specifically recognizes and binds Lys-63-linked ubiquitin (PubMed:19328070, Ref.35). 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.

Gene Wiki entry for UIMC1 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for UIMC1 Gene

Genomics for UIMC1 Gene

Regulatory Elements for UIMC1 Gene

Enhancers for UIMC1 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around UIMC1 on UCSC Golden Path with GeneCards custom track

Promoters for UIMC1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around UIMC1 on UCSC Golden Path with GeneCards custom track

Genomic Location for UIMC1 Gene

Chromosome:
5
Start:
176,905,005 bp from pter
End:
177,022,633 bp from pter
Size:
117,629 bases
Orientation:
Minus strand

Genomic View for UIMC1 Gene

Genes around UIMC1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
UIMC1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for UIMC1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for UIMC1 Gene

Proteins for UIMC1 Gene

  • Protein details for UIMC1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q96RL1-UIMC1_HUMAN
    Recommended name:
    BRCA1-A complex subunit RAP80
    Protein Accession:
    Q96RL1
    Secondary Accessions:
    • A8MSA1
    • B3KMZ1
    • B4E3N2
    • Q5XKQ1
    • Q7Z3W7
    • Q8N5B9
    • Q9BZR1
    • Q9BZR5
    • Q9UHX7

    Protein attributes for UIMC1 Gene

    Size:
    719 amino acids
    Molecular mass:
    79727 Da
    Quaternary structure:
    • Interacts with TSP57 (By similarity). Component of the ARISC complex, at least composed of UIMC1/RAP80, FAM175A/Abraxas, BRCC3/BRCC36, BRE/BRCC45 and BABAM1/NBA1 (PubMed:24075985). 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.
    SequenceCaution:
    • Sequence=AAH06078.1; Type=Erroneous termination; Positions=386; Note=Translated as Glu.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for UIMC1 Gene

    Alternative splice isoforms for UIMC1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for UIMC1 Gene

Proteomics data for UIMC1 Gene at MOPED

Post-translational modifications for UIMC1 Gene

  • Phosphorylated upon DNA damage by ATM or ATR.
  • Sumoylated.
  • Ubiquitination at Lys 20, Lys 31, Lys 75, Lys 90, Lys 146, Lys 232, Lys 245, Lys 374, Lys 382, Lys 544, Lys 567, Lys 587, Lys 607, and Lys 635
  • Modification sites at PhosphoSitePlus

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for UIMC1 (RAP80)

No data available for DME Specific Peptides for UIMC1 Gene

Domains & Families for UIMC1 Gene

Protein Domains for UIMC1 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for UIMC1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q96RL1

UniProtKB/Swiss-Prot:

UIMC1_HUMAN :
  • The tandem UIM domains form a continuous 60 Angstrom-long alpha-helix and mediate binding to Lys-63-linked ubiquitins. UIM1 and UIM2 bind to the proximal and distal ubiquitin moieties and recognize an Ile-44-centered hydrophobic patch. Since UIMs dont interact with the Lys-63 isopeptide bond the UIM-linker region between the 2 UIM domains determines the selectivity for Lys-63-linkage, and its length is very important for specificity.
  • Belongs to the RAP80 family.
Domain:
  • The tandem UIM domains form a continuous 60 Angstrom-long alpha-helix and mediate binding to Lys-63-linked ubiquitins. UIM1 and UIM2 bind to the proximal and distal ubiquitin moieties and recognize an Ile-44-centered hydrophobic patch. Since UIMs dont interact with the Lys-63 isopeptide bond the UIM-linker region between the 2 UIM domains determines the selectivity for Lys-63-linkage, and its length is very important for specificity.
  • The Abraxas-interacting region (AIR) mediates the interaction with FAM175A/Abraxas.
  • Contains 2 UIM (ubiquitin-interacting motif) domains.
Family:
  • Belongs to the RAP80 family.
genes like me logo Genes that share domains with UIMC1: view

No data available for Gene Families for UIMC1 Gene

Function for UIMC1 Gene

Molecular function for UIMC1 Gene

UniProtKB/Swiss-Prot Function:
Ubiquitin-binding protein (PubMed:24627472). Specifically recognizes and binds Lys-63-linked ubiquitin (PubMed:19328070, Ref.35). 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.
genes like me logo Genes that share phenotypes with UIMC1: view

Animal Models for UIMC1 Gene

MGI Knock Outs for UIMC1:

Animal Model Products

Inhibitory RNA Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , miRNA , Transcription Factor Targets and HOMER Transcription for UIMC1 Gene

Localization for UIMC1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for UIMC1 Gene

Nucleus. Note=Localizes at sites of DNA damage at double-strand breaks (DSBs).

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for UIMC1 Gene COMPARTMENTS Subcellular localization image for UIMC1 gene
Compartment Confidence
nucleus 5

Gene Ontology (GO) - Cellular Components for UIMC1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005654 nucleoplasm TAS --
genes like me logo Genes that share ontologies with UIMC1: view

Pathways & Interactions for UIMC1 Gene

genes like me logo Genes that share pathways with UIMC1: view

Pathways by source for UIMC1 Gene

1 Cell Signaling Technology pathway for UIMC1 Gene

SIGNOR curated interactions for UIMC1 Gene

Activates:

Gene Ontology (GO) - Biological Process for UIMC1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006303 double-strand break repair via nonhomologous end joining TAS --
GO:0006351 transcription, DNA-templated IEA --
GO:0010212 response to ionizing radiation IMP 17525340
GO:0045892 negative regulation of transcription, DNA-templated IDA 12080054
GO:0070537 histone H2A K63-linked deubiquitination IMP 19202061
genes like me logo Genes that share ontologies with UIMC1: view

Drugs & Compounds for UIMC1 Gene

No Compound Related Data Available

Transcripts for UIMC1 Gene

Unigene Clusters for UIMC1 Gene

Ubiquitin interaction motif containing 1:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for UIMC1 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8a · 8b · 8c ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15a · 15b ^ 16a · 16b · 16c ^ 17
SP1: - - - -
SP2: - - - -
SP3: - - - - -
SP4:
SP5: -
SP6: -

Relevant External Links for UIMC1 Gene

GeneLoc Exon Structure for
UIMC1
ECgene alternative splicing isoforms for
UIMC1

Expression for UIMC1 Gene

mRNA expression in normal human tissues for UIMC1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for UIMC1 Gene

This gene is overexpressed in Whole Blood (x4.1).

Protein differential expression in normal tissues from HIPED for UIMC1 Gene

This gene is overexpressed in Testis (15.1), Tlymphocyte (11.5), Peripheral blood mononuclear cells (9.6), and Adrenal (6.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for UIMC1 Gene



SOURCE GeneReport for Unigene cluster for UIMC1 Gene Hs.232721

mRNA Expression by UniProt/SwissProt for UIMC1 Gene

Q96RL1-UIMC1_HUMAN
Tissue specificity: Expressed in testis, ovary, thymus and heart. Expressed in germ cells of the testis.
genes like me logo Genes that share expression patterns with UIMC1: view

Protein tissue co-expression partners for UIMC1 Gene

- Elite partner

Primer Products

Orthologs for UIMC1 Gene

This gene was present in the common ancestor of chordates.

Orthologs for UIMC1 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia UIMC1 35
  • 91.03 (n)
  • 85.36 (a)
UIMC1 36
  • 84 (a)
OneToOne
dog
(Canis familiaris)
Mammalia UIMC1 35
  • 92.04 (n)
  • 88.13 (a)
UIMC1 36
  • 88 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Uimc1 35
  • 85.71 (n)
  • 77.03 (a)
Uimc1 16
Uimc1 36
  • 76 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia UIMC1 35
  • 99.12 (n)
  • 98.75 (a)
UIMC1 36
  • 98 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Uimc1 35
  • 83.5 (n)
  • 72.79 (a)
oppossum
(Monodelphis domestica)
Mammalia UIMC1 36
  • 54 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 55 (a)
OneToMany
-- 36
  • 44 (a)
OneToMany
-- 36
  • 57 (a)
OneToMany
chicken
(Gallus gallus)
Aves UIMC1 35
  • 59.16 (n)
  • 48.7 (a)
UIMC1 36
  • 44 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia UIMC1 36
  • 40 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii UIMC1 (1 of 2) 36
  • 12 (a)
OneToMany
UIMC1 (2 of 2) 36
  • 18 (a)
OneToMany
Species with no ortholog for UIMC1:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for UIMC1 Gene

ENSEMBL:
Gene Tree for UIMC1 (if available)
TreeFam:
Gene Tree for UIMC1 (if available)

Paralogs for UIMC1 Gene

(1) SIMAP similar genes for UIMC1 Gene using alignment to 7 proteins:

genes like me logo Genes that share paralogs with UIMC1: view

No data available for Paralogs for UIMC1 Gene

Variants for UIMC1 Gene

Sequence variations from dbSNP and Humsavar for UIMC1 Gene

SNP ID Clin Chr 05 pos Sequence Context AA Info Type
rs13167812 - 176,982,573(+) GTTCC(A/G)AGATT nc-transcript-variant, reference, missense, utr-variant-5-prime
rs3733876 - 176,955,994(+) TCTCT(A/G)GCATA nc-transcript-variant, reference, missense
rs13360277 - 176,943,401(+) AAAGC(A/G)TTGGT nc-transcript-variant, reference, missense
rs10475633 - 176,908,584(+) CACTC(C/T)CTTCA nc-transcript-variant, downstream-variant-500B, reference, missense
rs143282828 - 176,968,697(+) CTCCC(A/G)TATCT intron-variant, nc-transcript-variant, reference, missense

Structural Variations from Database of Genomic Variants (DGV) for UIMC1 Gene

Variant ID Type Subtype PubMed ID
dgv363n21 CNV Gain 19592680
nsv5145 CNV Loss 18451855
esv994326 CNV Deletion 20482838
nsv436485 CNV Deletion 17901297
esv2624268 CNV Deletion 19546169
esv2102565 CNV Deletion 18987734
esv2731185 CNV Deletion 23290073
esv3627 CNV Deletion 18987735
esv1009754 CNV Deletion 20482838
esv2656890 CNV Deletion 23128226
esv8970 CNV Loss 19470904
esv1688212 CNV Insertion 17803354

Variation tolerance for UIMC1 Gene

Residual Variation Intolerance Score: 50.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 6.86; 79.37% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for UIMC1 Gene

Human Gene Mutation Database (HGMD)
UIMC1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for UIMC1 Gene

Disorders for UIMC1 Gene

MalaCards: The human disease database

(1) MalaCards diseases for UIMC1 Gene - From: GeneCards

Disorder Aliases PubMed IDs
familial breast cancer
  • breast cancer, familial
- elite association - COSMIC cancer census association via MalaCards
Search UIMC1 in MalaCards View complete list of genes associated with diseases

Relevant External Links for UIMC1

Genetic Association Database (GAD)
UIMC1
Human Genome Epidemiology (HuGE) Navigator
UIMC1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
UIMC1
genes like me logo Genes that share disorders with UIMC1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for UIMC1 Gene

Publications for UIMC1 Gene

  1. RAP80: a novel nuclear protein that interacts with the retinoid- related testis-associated receptor. (PMID: 12080054) Yan Z. … Jetten A.M. (J. Biol. Chem. 2002) 2 3 4 23 67
  2. Familial breast cancer screening reveals an alteration in the RAP80 UIM domain that impairs DNA damage response function. (PMID: 19305427) NikkilAo J. … Greenberg R.A. (Oncogene 2009) 3 23
  3. Structural basis for specific recognition of Lys 63-linked polyubiquitin chains by tandem UIMs of RAP80. (PMID: 19536136) Sato Y. … Fukai S. (EMBO J. 2009) 3 23
  4. The linker connecting the tandem ubiquitin binding domains of RAP80 is critical for lysine 63-linked polyubiquitin-dependent binding activity. (PMID: 19944020) Cho H.J. … Kim H. (BMB Rep 2009) 3 23
  5. RAP80 responds to DNA damage induced by both ionizing radiation and UV irradiation and is phosphorylated at Ser 205. (PMID: 18519686) Yan J. … Jetten A.M. (Cancer Res. 2008) 3 23

Products for UIMC1 Gene

Sources for UIMC1 Gene

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