Uimc1 ubiquitin interaction motif containing 1 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Uimc1provided by MGI
Official Full Name: ubiquitin interaction motif containing 1provided by MGI
Primary source: MGI:MGI:103185
See related: Ensembl:ENSMUSG00000025878 AllianceGenome:MGI:103185
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: RIP110; Rxrip110; 9430016E08Rik; D330018D10Rik; D630032M02Rik
Summary: Enables nuclear retinoid X receptor binding activity. Predicted to be involved in several processes, including DNA repair-dependent chromatin remodeling; mitotic G2 DNA damage checkpoint signaling; and regulation of nucleobase-containing compound metabolic process. Predicted to be located in nuclear body. Predicted to be part of BRCA1-A complex. Predicted to be active in site of double-strand break. Orthologous to human UIMC1 (ubiquitin interaction motif containing 1). [provided by Alliance of Genome Resources, Dec 2024]
Expression: Ubiquitous expression in bladder adult (RPKM 8.1), CNS E11.5 (RPKM 7.9) and 25 other tissues See more
Orthologs: human all
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Genomic context

Location:: 13 B1; 13 29.8 cM

Exon count:: 16

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	13	NC_000079.7 (55175693..55248176, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	13	NC_000079.6 (55027880..55100363, complement)

Chromosome 13 - NC_000079.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Expression

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See details

Project title: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

DOT1L-mediated RAP80 methylation promotes BRCA1 recruitment to elicit DNA repair.
Title: DOT1L-mediated RAP80 methylation promotes BRCA1 recruitment to elicit DNA repair.
Autologous K63 deubiquitylation within the BRCA1-A complex licenses DNA damage recognition.
Title: Autologous K63 deubiquitylation within the BRCA1-A complex licenses DNA damage recognition.
Data indicate that RAP80-deficiency promotes genomic instability and causes an increase in cancer risk consistent with the concept that RAP80 exhibits a tumor suppressor function.
Title: RAP80 is critical in maintaining genomic stability and suppressing tumor development.
a model in which SUMO and Ub modification is coordinated to recruit Rap80 and BRCA1 to DNA damage sites.
Title: Rap80 protein recruitment to DNA double-strand breaks requires binding to both small ubiquitin-like modifier (SUMO) and ubiquitin conjugates.
Mechanistically, loss of RAP80 suppresses recruitment of the BRCA1-A complex to DNA damage sites and abrogates the DNA damage repair process at DNA damage sites.
Title: RAP80 protein is important for genomic stability and is required for stabilizing BRCA1-A complex at DNA damage sites in vivo.
Both ubiquitin-interacting motif 1(UIM1) and UIM2 of RAP80 recognize an Ile 44-centered hydrophobic patch on ubiquitin but neither UIM interacts with the Lys 63-linked isopeptide bond. [RAP80]
Title: Structural basis for specific recognition of Lys 63-linked polyubiquitin chains by tandem UIMs of RAP80.

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Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Endonuclease-mediated (2)
Gene trapped (1)
Targeted (2) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables DNA binding	IEA Inferred from Electronic Annotation more info
enables K63-linked polyubiquitin modification-dependent protein binding	IBA Inferred from Biological aspect of Ancestor more info
enables K63-linked polyubiquitin modification-dependent protein binding	ISO Inferred from Sequence Orthology more info
enables K63-linked polyubiquitin modification-dependent protein binding	ISS Inferred from Sequence or Structural Similarity more info
enables histone binding	IBA Inferred from Biological aspect of Ancestor more info
enables histone binding	ISO Inferred from Sequence Orthology more info
enables histone binding	ISS Inferred from Sequence or Structural Similarity more info
enables metal ion binding	IEA Inferred from Electronic Annotation more info
enables nuclear retinoid X receptor binding	IDA Inferred from Direct Assay more info	PubMed
enables ubiquitin-modified histone reader activity	ISO Inferred from Sequence Orthology more info

Process	Evidence Code	Pubs
involved_in DNA repair-dependent chromatin remodeling	ISO Inferred from Sequence Orthology more info
involved_in chromatin organization	IEA Inferred from Electronic Annotation more info
involved_in double-strand break repair	IBA Inferred from Biological aspect of Ancestor more info
involved_in double-strand break repair	ISO Inferred from Sequence Orthology more info
involved_in double-strand break repair	ISS Inferred from Sequence or Structural Similarity more info
involved_in mitotic G2 DNA damage checkpoint signaling	ISO Inferred from Sequence Orthology more info
involved_in mitotic G2 DNA damage checkpoint signaling	ISS Inferred from Sequence or Structural Similarity more info
involved_in mitotic G2/M transition checkpoint	NAS Non-traceable Author Statement more info	PubMed
involved_in negative regulation of DNA-templated transcription	ISO Inferred from Sequence Orthology more info
involved_in negative regulation of DNA-templated transcription	ISS Inferred from Sequence or Structural Similarity more info	PubMed
involved_in positive regulation of DNA repair	IBA Inferred from Biological aspect of Ancestor more info
involved_in positive regulation of DNA repair	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of DNA repair	ISS Inferred from Sequence or Structural Similarity more info
involved_in regulation of DNA repair	NAS Non-traceable Author Statement more info	PubMed
involved_in response to ionizing radiation	ISO Inferred from Sequence Orthology more info
involved_in response to ionizing radiation	ISS Inferred from Sequence or Structural Similarity more info

Component	Evidence Code	Pubs
part_of BRCA1-A complex	IBA Inferred from Biological aspect of Ancestor more info
part_of BRCA1-A complex	ISO Inferred from Sequence Orthology more info
part_of BRCA1-A complex	ISS Inferred from Sequence or Structural Similarity more info
part_of BRCA1-A complex	NAS Non-traceable Author Statement more info	PubMed
located_in nuclear body	ISO Inferred from Sequence Orthology more info
located_in nucleoplasm	ISO Inferred from Sequence Orthology more info
located_in nucleus	ISO Inferred from Sequence Orthology more info
located_in nucleus	ISS Inferred from Sequence or Structural Similarity more info	PubMed
located_in nucleus	NAS Non-traceable Author Statement more info	PubMed
is_active_in site of double-strand break	ISO Inferred from Sequence Orthology more info

General protein information

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Preferred Names: BRCA1-A complex subunit RAP80

Names: receptor-associated protein 80; retinoid X receptor interacting protein 110; ubiquitin interaction motif-containing protein 1

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_001293660.1 → NP_001280589.1 BRCA1-A complex subunit RAP80 isoform 2

See identical proteins and their annotated locations for NP_001280589.1

Status: VALIDATED

Description

Transcript Variant: This variant (2) lacks two in-frame exons in the coding region, compared to variant 1. The encoded protein (isoform 2) is shorter, compared to isoform 1.

Source sequence(s)

AK052704, AK160926

Consensus CDS

CCDS79189.1

UniProtKB/TrEMBL

A0A0R4J183

Related

ENSMUSP00000097095.4, ENSMUST00000099496.4

Conserved Domains (1) summary

pfam18282
Location:72 → 122

RAP80_UIM; RAP80 N-terminal ubiquitin interaction motif
NM_001359757.1 → NP_001346686.1 BRCA1-A complex subunit RAP80 isoform 1

Status: VALIDATED

Description

Transcript Variant: This variant (4) differs in the 5' UTR compared to variant 1. Variants 1 and 4 encode the same isoform (1).

Source sequence(s)

AC154610

Consensus CDS

CCDS36671.1

UniProtKB/Swiss-Prot

Q3TU77, Q5U5Q9, Q60811, Q8C3Z8, Q8C719, Q8K1X7

UniProtKB/TrEMBL

A0A0R4J073, E9Q577
NM_001359758.1 → NP_001346687.1 BRCA1-A complex subunit RAP80 isoform 3

Status: VALIDATED

Description

Transcript Variant: This variant (5) contains multiple differences in the 5' region and initiates translation at a downstream start codon compared to variant 1. The encoded isoform (3) has a shorter N-terminus than isoform 1.

Source sequence(s)

AC154610
NM_011307.3 → NP_035437.1 BRCA1-A complex subunit RAP80 isoform 1

See identical proteins and their annotated locations for NP_035437.1

Status: VALIDATED

Description

Transcript Variant: This variant (1) encodes the longest isoform (1).

Source sequence(s)

AK052704, AK160926

Consensus CDS

CCDS36671.1

UniProtKB/Swiss-Prot

Q3TU77, Q5U5Q9, Q60811, Q8C3Z8, Q8C719, Q8K1X7

UniProtKB/TrEMBL

A0A0R4J073, E9Q577

Related

ENSMUSP00000026997.6, ENSMUST00000026997.12

RNA

NR_121592.1 RNA Sequence

Status: VALIDATED

Description

Transcript Variant: This variant (3) lacks an alternate internal exon, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).

Source sequence(s)

AK052704, AK160926

Related

ENSMUST00000148702.8

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCm39 C57BL/6J

Genomic

NC_000079.7 Reference GRCm39 C57BL/6J

Range

55175693..55248176 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_011244499.3 → XP_011242801.1 BRCA1-A complex subunit RAP80 isoform X2

UniProtKB/Swiss-Prot

Q3TU77, Q5U5Q9, Q60811, Q8C3Z8, Q8C719, Q8K1X7

UniProtKB/TrEMBL

E9Q577

Conserved Domains (1) summary

pfam18282
Location:72 → 128

RAP80_UIM; RAP80 N-terminal ubiquitin interaction motif
XM_030247207.2 → XP_030103067.1 BRCA1-A complex subunit RAP80 isoform X6

Conserved Domains (1) summary

pfam18282
Location:72 → 122

RAP80_UIM; RAP80 N-terminal ubiquitin interaction motif
XM_006517167.4 → XP_006517230.1 BRCA1-A complex subunit RAP80 isoform X1

UniProtKB/Swiss-Prot

Q3TU77, Q5U5Q9, Q60811, Q8C3Z8, Q8C719, Q8K1X7

UniProtKB/TrEMBL

E9Q577

Conserved Domains (1) summary

pfam18282
Location:72 → 128

RAP80_UIM; RAP80 N-terminal ubiquitin interaction motif
XM_036157929.1 → XP_036013822.1 BRCA1-A complex subunit RAP80 isoform X4

Conserved Domains (1) summary

cd20912
Location:1 → 22

AIR_RAP80-like; ABRAXAS Interacting Region (AIR) of Receptor-Associated Protein 80 (RAP80), and related domains
XM_036157930.1 → XP_036013823.1 BRCA1-A complex subunit RAP80 isoform X5
XM_036157928.1 → XP_036013821.1 BRCA1-A complex subunit RAP80 isoform X3

UniProtKB/TrEMBL

A0A0R4J183

Conserved Domains (1) summary

pfam18282
Location:72 → 122

RAP80_UIM; RAP80 N-terminal ubiquitin interaction motif