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] See more...

Aliases for UIMC1 Gene

Aliases for UIMC1 Gene

  • Ubiquitin Interaction Motif Containing 1 2 3 5
  • RAP80 2 3 4
  • Retinoid X Receptor-Interacting Protein 110 3 4
  • Receptor-Associated Protein 80 3 4
  • BRCA1-A Complex Subunit RAP80 3 4
  • Ubiquitin Interaction Motif-Containing Protein 1 4
  • Receptor Associated Protein 80 2
  • X2HRIP110 3
  • RXRIP110 4
  • UIMC1 5

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 Riddle Syndrome and Arthrogryposis, Renal Dysfunction, And Cholestasis 1. Among its related pathways are DNA Double Strand Break Response and Metabolism of proteins. Gene Ontology (GO) annotations related to this gene include histone binding and K63-linked polyubiquitin modification-dependent protein binding.

UniProtKB/Swiss-Prot Summary for UIMC1 Gene

  • Ubiquitin-binding protein (PubMed:24627472). Specifically recognizes and binds 'Lys-63'-linked ubiquitin (PubMed:19328070, Ref.37). 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

Additional gene information for UIMC1 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for UIMC1 Gene

Genomics for UIMC1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for UIMC1 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around UIMC1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for UIMC1

Top Transcription factor binding sites by QIAGEN in the UIMC1 gene promoter:
  • Arnt
  • HNF-4alpha1
  • NF-1
  • NF-1/L
  • Pbx1a
  • POU2F1
  • POU2F1a
  • PPAR-gamma1
  • PPAR-gamma2
  • Spz1

Genomic Locations for UIMC1 Gene

Genomic Locations for UIMC1 Gene
chr5:176,905,005-177,022,640
(GRCh38/hg38)
Size:
117,636 bases
Orientation:
Minus strand
chr5:176,332,006-176,449,634
(GRCh37/hg19)
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, ABRAXAS1, BRCC3/BRCC36, BABAM2 and BABAM1/NBA1 (PubMed:24075985). Component of the BRCA1-A complex, at least composed of the BRCA1, BARD1, UIMC1/RAP80, ABRAXAS1, BRCC3/BRCC36, BABAM2 and BABAM1/NBA1. In the BRCA1-A complex, interacts directly with ABRAXAS1. Interacts with ESR1, NR6A1 and UBE2I.
    SequenceCaution:
    • Sequence=AAH06078.1; Type=Erroneous termination; Note=Truncated C-terminus.; 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

Post-translational modifications for UIMC1 Gene

  • Sumoylated.
  • Phosphorylated upon DNA damage by ATM or ATR.
  • Ubiquitination at Lys20, Lys31, Lys146, Lys75, Lys90, Lys232, Lys245, Lys544, Lys567, Lys587, Lys607, Lys635, Lys374, and Lys382
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for UIMC1 Gene

Domains & Families for UIMC1 Gene

Gene Families for UIMC1 Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for UIMC1 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for UIMC1 Gene

GenScript: Design optimal peptide antigens:
  • Ubiquitin interaction motif-containing protein 1 (UIMC1_HUMAN)

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 don't 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 don't 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 ABRAXAS1.
Family:
  • Belongs to the RAP80 family.
genes like me logo Genes that share domains with UIMC1: view

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.37). 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.

Phenotypes From GWAS Catalog for UIMC1 Gene

Gene Ontology (GO) - Molecular Function for UIMC1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 12080054
GO:0042393 histone binding IDA 17525341
GO:0046872 metal ion binding IEA --
GO:0070530 K63-linked polyubiquitin modification-dependent protein binding IDA 17525341
genes like me logo Genes that share ontologies with UIMC1: view
genes like me logo Genes that share phenotypes with UIMC1: view

Animal Models for UIMC1 Gene

MGI Knock Outs for UIMC1:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for UIMC1

No data available for Enzyme Numbers (IUBMB) , 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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for UIMC1 gene
Compartment Confidence
nucleus 5
plasma membrane 1
extracellular 1
cytoskeleton 1
mitochondrion 1
peroxisome 1
endoplasmic reticulum 1
endosome 1
cytosol 1
lysosome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nuclear bodies (3)
  • Nucleoplasm (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for UIMC1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA,IDA 12080054
GO:0005654 nucleoplasm TAS --
GO:0016604 nuclear body IDA --
GO:0070531 BRCA1-A complex IBA,IDA 17525340
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:0006281 DNA repair IEA --
GO:0006302 double-strand break repair IBA,IMP 17525340
GO:0006303 double-strand break repair via nonhomologous end joining TAS --
GO:0006325 chromatin organization IEA --
GO:0006974 cellular response to DNA damage stimulus IEA --
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

mRNA/cDNA for UIMC1 Gene

4 REFSEQ mRNAs :
13 NCBI additional mRNA sequence :
14 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for UIMC1

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

Expression for UIMC1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE 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, MaxQB, and MOPED for UIMC1 Gene



Protein tissue co-expression partners for UIMC1 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for UIMC1

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.

Evidence on tissue expression from TISSUES for UIMC1 Gene

  • Nervous system(4.5)
  • Skin(4.4)
  • Blood(2.3)
  • Intestine(2.3)
  • Kidney(2.2)
genes like me logo Genes that share expression patterns with UIMC1: view

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for UIMC1 Gene

Orthologs for UIMC1 Gene

This gene was present in the common ancestor of chordates.

Orthologs for UIMC1 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia UIMC1 30 31
  • 99.12 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia UIMC1 30 31
  • 92.04 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia UIMC1 30 31
  • 91.03 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Uimc1 30 17 31
  • 85.71 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Uimc1 30
  • 83.5 (n)
Platypus
(Ornithorhynchus anatinus)
Mammalia -- 31
  • 57 (a)
OneToMany
-- 31
  • 55 (a)
OneToMany
-- 31
  • 44 (a)
OneToMany
Oppossum
(Monodelphis domestica)
Mammalia UIMC1 31
  • 54 (a)
OneToOne
Chicken
(Gallus gallus)
Aves UIMC1 30 31
  • 59.16 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia UIMC1 31
  • 40 (a)
OneToOne
Zebrafish
(Danio rerio)
Actinopterygii UIMC1 (2 of 2) 31
  • 18 (a)
OneToMany
UIMC1 (1 of 2) 31
  • 12 (a)
OneToMany
Species where no ortholog for UIMC1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (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)
Aminode:
Evolutionary constrained regions (ECRs) for UIMC1: view image

Paralogs for UIMC1 Gene

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

  • UIMC1_HUMAN
  • D6R9M3_HUMAN
  • D6RC40_HUMAN
  • D6RCF3_HUMAN
  • D6RCQ3_HUMAN
  • D6RDZ5_HUMAN
  • F8VQY2_HUMAN
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, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for UIMC1 Gene

SNP ID Clinical significance and condition Chr 05 pos Variation AA Info Type
rs150697112 Likely Benign: not specified 176,968,617(-) A/G MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT,INTRON_VARIANT
rs766633588 Likely Pathogenic: not provided 176,908,695(-) C/T SPLICE_ACCEPTOR_VARIANT
rs10475633 - p.Gly596Glu
rs13167812 - p.Arg15Trp
rs13360277 - p.Cys511Arg

Additional dbSNP identifiers (rs#s) for UIMC1 Gene

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

Variant ID Type Subtype PubMed ID
dgv3228n106 CNV deletion 24896259
dgv363n21 CNV gain 19592680
esv1009754 CNV deletion 20482838
esv1688212 CNV insertion 17803354
esv2102565 CNV deletion 18987734
esv2624268 CNV deletion 19546169
esv2656890 CNV deletion 23128226
esv2731185 CNV deletion 23290073
esv3567060 CNV deletion 23714750
esv3607678 CNV loss 21293372
esv3607679 CNV loss 21293372
esv3627 CNV loss 18987735
esv8970 CNV loss 19470904
esv994326 CNV deletion 20482838
nsv1016283 CNV gain 25217958
nsv1024971 CNV loss 25217958
nsv1029191 CNV gain 25217958
nsv1072584 CNV deletion 25765185
nsv1110777 CNV deletion 24896259
nsv1131928 CNV deletion 24896259
nsv1153480 CNV deletion 26484159
nsv436485 CNV deletion 17901297
nsv5145 CNV deletion 18451855

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)

Additional Variant Information for UIMC1 Gene

Human Gene Mutation Database (HGMD)
UIMC1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
UIMC1

SNP Genotyping and Copy Number Assay Products

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

Disorders for UIMC1 Gene

MalaCards: The human disease database

(5) MalaCards diseases for UIMC1 Gene - From: DISEASES and GeneCards

- elite association - COSMIC cancer census association via MalaCards
Search UIMC1 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for UIMC1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
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 AM (The Journal of biological chemistry 2002) 2 3 4 23
  2. Analysis of the genes coding for the BRCA1-interacting proteins, RAP80 and Abraxas (CCDC98), in high-risk, non-BRCA1/2, multiethnic breast cancer cases. (PMID: 18695986) Novak DJ … Tischkowitz M (Breast cancer research and treatment 2009) 3 4 41
  3. Histone ubiquitination associates with BRCA1-dependent DNA damage response. (PMID: 19015238) Wu J … Yu X (Molecular and cellular biology 2009) 2 3 4
  4. RAP80 responds to DNA damage induced by both ionizing radiation and UV irradiation and is phosphorylated at Ser 205. (PMID: 18519686) Yan J … Jetten AM (Cancer research 2008) 3 4 23
  5. The ubiquitin-interacting motif containing protein RAP80 interacts with BRCA1 and functions in DNA damage repair response. (PMID: 17621610) Yan J … Jetten AM (Cancer research 2007) 3 4 23

Products for UIMC1 Gene

Sources for UIMC1 Gene