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UIMC1 ubiquitin interaction motif containing 1 [ Homo sapiens (human) ]

Gene ID: 51720, updated on 7-Jun-2020

Summary

Official Symbol
UIMC1provided by HGNC
Official Full Name
ubiquitin interaction motif containing 1provided by HGNC
Primary source
HGNC:HGNC:30298
See related
Ensembl:ENSG00000087206 MIM:609433
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
RAP80; X2HRIP110
Summary
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]
Expression
Broad expression in testis (RPKM 26.7), bone marrow (RPKM 12.5) and 24 other tissues See more
Orthologs

Genomic context

See UIMC1 in Genome Data Viewer
Location:
5q35.2
Exon count:
22
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 5 NC_000005.10 (176905005..177022640, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (176332006..176433795, complement)

Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene long intergenic non-protein coding RNA 1574 Neighboring gene unc-5 netrin receptor A Neighboring gene hexokinase 3 Neighboring gene zinc finger protein 346 Neighboring gene FGFR4 5' regulatory region Neighboring gene fibroblast growth factor receptor 4

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

NHGRI GWAS Catalog

Description
Genetic associations for activated partial thromboplastin time and prothrombin time, their gene expression profiles, and risk of coronary artery disease.
NHGRI GWA Catalog
Genome-wide association studies identify loci associated with age at menarche and age at natural menopause.
NHGRI GWA Catalog
Meta-analyses identify 13 loci associated with age at menopause and highlight DNA repair and immune pathways.
NHGRI GWA Catalog

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
K63-linked polyubiquitin modification-dependent protein binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
K63-linked polyubiquitin modification-dependent protein binding IDA
Inferred from Direct Assay
more info
PubMed 
histone binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
histone binding IDA
Inferred from Direct Assay
more info
PubMed 
metal ion binding IEA
Inferred from Electronic Annotation
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
double-strand break repair IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
double-strand break repair IMP
Inferred from Mutant Phenotype
more info
PubMed 
double-strand break repair via nonhomologous end joining TAS
Traceable Author Statement
more info
 
histone H2A K63-linked deubiquitination IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
histone H2A K63-linked deubiquitination IMP
Inferred from Mutant Phenotype
more info
PubMed 
negative regulation of transcription, DNA-templated IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of DNA repair IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
positive regulation of DNA repair IMP
Inferred from Mutant Phenotype
more info
PubMed 
protein deubiquitination TAS
Traceable Author Statement
more info
 
response to ionizing radiation IMP
Inferred from Mutant Phenotype
more info
PubMed 
signal transduction involved in G2 DNA damage checkpoint IMP
Inferred from Mutant Phenotype
more info
PubMed 
Component Evidence Code Pubs
BRCA1-A complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
BRCA1-A complex IDA
Inferred from Direct Assay
more info
PubMed 
nuclear body IDA
Inferred from Direct Assay
more info
 
nucleoplasm IDA
Inferred from Direct Assay
more info
 
nucleoplasm TAS
Traceable Author Statement
more info
 
nucleus IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
BRCA1-A complex subunit RAP80
Names
receptor-associated protein 80
retinoid X receptor-interacting protein 110

NCBI Reference Sequences (RefSeq)

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)

  1. NM_001199297.2NP_001186226.1  BRCA1-A complex subunit RAP80 isoform 1

    See identical proteins and their annotated locations for NP_001186226.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longest transcript. Variants 1, 2, and 3 encode the same protein (isoform 1).
    Source sequence(s)
    AK023044, BC006078, BP270983, BX537376, CF994701
    Consensus CDS
    CCDS4408.1
    UniProtKB/Swiss-Prot
    Q96RL1
    UniProtKB/TrEMBL
    A0A024R7R0
  2. NM_001199298.2NP_001186227.1  BRCA1-A complex subunit RAP80 isoform 1

    See identical proteins and their annotated locations for NP_001186227.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) differs in the 5' UTR compared to variant 1. Variants 1, 2, and 3 encode the same protein (isoform 1).
    Source sequence(s)
    AC027318, AF349313, BP270983, BX537376
    Consensus CDS
    CCDS4408.1
    UniProtKB/Swiss-Prot
    Q96RL1
    UniProtKB/TrEMBL
    A0A024R7R0
    Related
    ENSP00000421926.1, ENST00000511320.6
  3. NM_001317961.1NP_001304890.1  BRCA1-A complex subunit RAP80 isoform 2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) lacks an exon in the 5' UTR and uses an alternate in-frame splice site compared to variant 1. The encoded isoform (2) is shorter than isoform 1.
    Source sequence(s)
    AC027318, BC032561, BP270983, BX537376, CF994701
    Consensus CDS
    CCDS83050.1
    UniProtKB/Swiss-Prot
    Q96RL1
    Related
    ENSP00000427480.1, ENST00000506128.5
  4. NM_016290.4NP_057374.3  BRCA1-A complex subunit RAP80 isoform 1

    See identical proteins and their annotated locations for NP_057374.3

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Variants 1, 2, and 3 encode the same protein (isoform 1).
    Source sequence(s)
    AC027318, BX537376
    Consensus CDS
    CCDS4408.1
    UniProtKB/Swiss-Prot
    Q96RL1
    UniProtKB/TrEMBL
    A0A024R7R0
    Related
    ENSP00000366434.4, ENST00000377227.8

RNA

  1. NR_146149.1 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (5) uses an alternate splice site in its 5' exon, lacks an alternate internal exon and contains 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)
    AC027318, AF113538, AF349313, BP270983, BX537376, EF077643
  2. NR_146150.1 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (6) uses an alternate splice site in its 5' exon and at an 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)
    AC027318, AK023044, BC006078, BP270983, BX537376, CF994701
    Related
    ENST00000512031.5

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000005.10 Reference GRCh38.p13 Primary Assembly

    Range
    176905005..177022640 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017009577.1XP_016865066.1  BRCA1-A complex subunit RAP80 isoform X6

  2. XM_006714874.2XP_006714937.1  BRCA1-A complex subunit RAP80 isoform X7

    See identical proteins and their annotated locations for XP_006714937.1

  3. XM_006714871.2XP_006714934.1  BRCA1-A complex subunit RAP80 isoform X1

    See identical proteins and their annotated locations for XP_006714934.1

    UniProtKB/Swiss-Prot
    Q96RL1
    UniProtKB/TrEMBL
    A0A024R7R0
  4. XM_005265932.3XP_005265989.1  BRCA1-A complex subunit RAP80 isoform X6

    See identical proteins and their annotated locations for XP_005265989.1

  5. XM_005265936.2XP_005265993.1  BRCA1-A complex subunit RAP80 isoform X8

    See identical proteins and their annotated locations for XP_005265993.1

    UniProtKB/Swiss-Prot
    Q96RL1
  6. XM_005265934.2XP_005265991.1  BRCA1-A complex subunit RAP80 isoform X7

    See identical proteins and their annotated locations for XP_005265991.1

  7. XM_005265933.2XP_005265990.1  BRCA1-A complex subunit RAP80 isoform X6

    See identical proteins and their annotated locations for XP_005265990.1

  8. XM_017009578.1XP_016865067.1  BRCA1-A complex subunit RAP80 isoform X8

    UniProtKB/Swiss-Prot
    Q96RL1
  9. XM_005265935.2XP_005265992.1  BRCA1-A complex subunit RAP80 isoform X7

    See identical proteins and their annotated locations for XP_005265992.1

  10. XM_017009575.1XP_016865064.1  BRCA1-A complex subunit RAP80 isoform X3

  11. XM_005265930.2XP_005265987.1  BRCA1-A complex subunit RAP80 isoform X1

    See identical proteins and their annotated locations for XP_005265987.1

    UniProtKB/Swiss-Prot
    Q96RL1
    UniProtKB/TrEMBL
    A0A024R7R0
  12. XM_017009576.1XP_016865065.1  BRCA1-A complex subunit RAP80 isoform X6

  13. XM_017009579.1XP_016865068.1  BRCA1-A complex subunit RAP80 isoform X8

    UniProtKB/Swiss-Prot
    Q96RL1
    Related
    ENSP00000423717.2, ENST00000510698.2
  14. XM_017009574.2XP_016865063.1  BRCA1-A complex subunit RAP80 isoform X2

    UniProtKB/Swiss-Prot
    Q96RL1
  15. XM_011534568.2XP_011532870.1  BRCA1-A complex subunit RAP80 isoform X4

  16. XM_011534570.1XP_011532872.1  BRCA1-A complex subunit RAP80 isoform X5

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