Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	51720
Gene name	Ubiquitin interaction motif containing 1
Gene symbol	UIMC1
Synonyms (NCBI Gene)	RAP80X2HRIP110
Chromosome	5
Chromosome location	5q35.2
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 transcri

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SNP ID	Visualize variation	Clinical significance	Consequence
rs766633588	C>T	Likely-pathogenic	Splice acceptor variant, genic downstream transcript variant

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miRTarBase ID	miRNA	Experiments
MIRT2363179	hsa-miR-138	CLIP-seq
MIRT2363180	hsa-miR-3132	CLIP-seq
MIRT2363181	hsa-miR-323-5p	CLIP-seq
MIRT2363182	hsa-miR-4456	CLIP-seq
MIRT2363183	hsa-miR-4731-5p	CLIP-seq
MIRT2363184	hsa-miR-876-3p	CLIP-seq
MIRT2462892	hsa-miR-1231	CLIP-seq
MIRT2462893	hsa-miR-153	CLIP-seq
MIRT2462894	hsa-miR-346	CLIP-seq
MIRT2462895	hsa-miR-4288	CLIP-seq
MIRT2462896	hsa-miR-4672	CLIP-seq
MIRT2462897	hsa-miR-632	CLIP-seq
MIRT2462892	hsa-miR-1231	CLIP-seq
MIRT2462893	hsa-miR-153	CLIP-seq
MIRT2462894	hsa-miR-346	CLIP-seq
MIRT2462895	hsa-miR-4288	CLIP-seq
MIRT2462896	hsa-miR-4672	CLIP-seq
MIRT2462897	hsa-miR-632	CLIP-seq
MIRT2462892	hsa-miR-1231	CLIP-seq
MIRT2462893	hsa-miR-153	CLIP-seq
MIRT2462894	hsa-miR-346	CLIP-seq
MIRT2462895	hsa-miR-4288	CLIP-seq
MIRT2462896	hsa-miR-4672	CLIP-seq
MIRT2462897	hsa-miR-632	CLIP-seq

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GO ID	Ontology	Definition	Evidence	Reference
GO:0003677	Function	DNA binding	IEA
GO:0005515	Function	Protein binding	IPI	12080054, 12954732, 17525340, 17643121, 18077395, 19202061, 19261748, 19261749, 19615732, 21516116, 23708797, 29656893, 29892012, 31515488, 32296183, 32814053, 34591612
GO:0005634	Component	Nucleus	IDA	12080054, 17525340, 17525341, 17525342, 17643121
GO:0005634	Component	Nucleus	IEA
GO:0005634	Component	Nucleus	NAS	20656689
GO:0005654	Component	Nucleoplasm	IDA
GO:0005654	Component	Nucleoplasm	TAS
GO:0006281	Process	DNA repair	IEA
GO:0006282	Process	Regulation of DNA repair	NAS	20656689
GO:0006302	Process	Double-strand break repair	IBA
GO:0006302	Process	Double-strand break repair	IEA
GO:0006302	Process	Double-strand break repair	IMP	17525340, 17525341, 17525342, 17643121, 19261748
GO:0006325	Process	Chromatin organization	IEA
GO:0006974	Process	DNA damage response	IEA
GO:0007095	Process	Mitotic G2 DNA damage checkpoint signaling	IMP	17525340, 17525341, 17525342, 17643121, 19261748
GO:0008270	Function	Zinc ion binding	IEA
GO:0010212	Process	Response to ionizing radiation	IMP	17525340, 17525341, 17525342, 17643121, 19261748
GO:0016604	Component	Nuclear body	IDA
GO:0035861	Component	Site of double-strand break	IDA	22492721
GO:0042393	Function	Histone binding	IBA
GO:0042393	Function	Histone binding	IDA	17525341, 17525342
GO:0044818	Process	Mitotic G2/M transition checkpoint	NAS	22369660
GO:0045739	Process	Positive regulation of DNA repair	IBA
GO:0045739	Process	Positive regulation of DNA repair	IMP	17525340, 17525341, 17525342, 19261748
GO:0045892	Process	Negative regulation of DNA-templated transcription	IDA	12080054
GO:0046872	Function	Metal ion binding	IEA
GO:0061649	Function	Ubiquitin-modified histone reader activity	IDA	22492721
GO:0070530	Function	K63-linked polyubiquitin modification-dependent protein binding	IBA
GO:0070530	Function	K63-linked polyubiquitin modification-dependent protein binding	IDA	17525341, 17525342, 19261749, 22742833
GO:0070530	Function	K63-linked polyubiquitin modification-dependent protein binding	IEA
GO:0070531	Component	BRCA1-A complex	IBA
GO:0070531	Component	BRCA1-A complex	IDA	17525340, 17525341, 17525342, 19261746, 19261748, 19261749
GO:0070531	Component	BRCA1-A complex	IEA
GO:0070531	Component	BRCA1-A complex	NAS	20656689
GO:0140861	Process	DNA repair-dependent chromatin remodeling	IMP	19202061

MIM	HGNC	e!Ensembl
609433	30298	ENSG00000087206

Q96RL1

Protein name

BRCA1-A complex subunit RAP80 (Receptor-associated protein 80) (Retinoid X receptor-interacting protein 110) (Ubiquitin interaction motif-containing protein 1)

Protein function

Ubiquitin-binding protein (PubMed:24627472). Specifically recognizes and binds 'Lys-63'-linked ubiquitin (PubMed:19328070, Ref.38). Plays a central role in the BRCA1-A complex by specifically binding 'Lys-63'-linked ubiquitinated histones H2A an

PDB

2MKF , 2MKG , 2N9E , 2RR9

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF18282	RAP80_UIM	72 → 128	RAP80 N-terminal ubiquitin interaction motif	Domain

Tissue specificity

TISSUE SPECIFICITY: Expressed in testis, ovary, thymus and heart. Expressed in germ cells of the testis. {ECO:0000269|PubMed:12080054}.

Sequence

MPRRKKKVKEVSESRNLEKKDVETTSSVSVKRKRRLEDAFIVISDSDGEEPKEENGLQKT
KTKQSNRAKCLAKRKIAQMTEEEQFALALKMSEQEAREVNSQEEEEEELLRKAIAESLNS
CRPSDASATRSRPLATGPSSQSHQEKTTDSGLTEGIWQLVPPSLFKGSHISQGNEAEERE
EPWDHTEKTEEEPVSGSSGSWDQSSQPVFENVNVKSFDRCTGHSAEHTQCGKPQESTGRG
SAFLKAVQGSGDTSRHCLPTLADAKGLQDTGGTVNYFWGIPFCPDGVDPNQYTKVILCQL
EVYQKSLKMAQRQLLNKKGFGEPVLPRPPSLIQNECGQGEQASEKNECISEDMGDEDKEE
RQESRASDWHSKTKDFQESSIKSLKEKLLLEEEPTTSHGQSSQGIVEETSEEGNSVPASQ
SVAALTSKRSLVLMPESSAEEITVCPETQLSSSETFDLEREVSPGSRDILDGVRIIMADK
EVGNKEDAEKEVAISTFSSSNQVSCPLCDQCFPPTKIERHAMYCNGLMEEDTVLTRRQKE
AKTKSDSGTAAQTSLDIDKNEKCYLCKSLVPFREYQCHVDSCLQLAKADQGDGPEGSGRA
CSTVEGKWQQRLKNPKEKGHSEGRLLSFLEQSEHKTSDADIKSSETGAFRVPSPGMEEAG
CSREMQSSFTRRDLNESPVKSFVSISEATDCLVDFKKQVTVQPGSRTRTKAGRGRRRKF

Sequence length

719

Interactions

View interactions

	KEGG		Reactome
	Homologous recombination		Metalloprotease DUBs Recruitment and ATM-mediated phosphorylation of repair and signaling proteins at DNA double strand breaks Nonhomologous End-Joining (NHEJ) Processing of DNA double-strand break ends G2/M DNA damage checkpoint

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Show/Hide Unknown Diseases (7)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
CONNECTIVE TISSUE DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INSOMNIA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Intellectual disability	Uncertain significance	ClinVar Disgenet	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Malignant lymphoma, large B-cell, diffuse	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MIXED CONNECTIVE TISSUE DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
UTERINE FIBROID	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (29)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Breast Cancer, Familial	Breast Cancer	BEFREE	18270812, 18306035		★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	18270812, 18306035, 18695986, 19572197, 30008919, 30705591		★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	17621610, 18519686, 19261746, 19305427, 23211528, 25252691	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma, Ovarian Epithelial	Ovarian Epithelial carcinoma	BEFREE	27443420		★★★★★ ★☆☆☆☆ Found in Text Mining only
Chromosomal Instability	Chromosomal instability	Pubtator	32797166	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Colonic Neoplasms	Colonic Neoplasms	BEFREE	17562356		★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital chromosomal disease	Congenital Chromosomal Disease	BEFREE	19305427		★★★★★ ★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Developmental disability	Pubtator	33004838	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Esophageal Neoplasms	Esophageal neoplasm	Pubtator	29396516	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Esophageal Squamous Cell Carcinoma	Esophageal squamous cell carcinoma	Pubtator	29396516	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Fanconi Anemia	Fanconi Anemia	BEFREE	26338419		★★★★★ ★☆☆☆☆ Found in Text Mining only
Fanconi Anemia	Fanconi anemia	Pubtator	26446986	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder)	Anemia	BEFREE	26338419		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hereditary Breast and Ovarian Cancer Syndrome	Hereditary breast and ovarian cancer syndrome	Pubtator	27399284	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	18270812, 18306035, 18695986, 19572197, 30008919, 30705591		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of ovary	Ovarian cancer	BEFREE	27443420		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	17562356, 19305427		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	LHGDN	18306035		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	17562356, 21529986, 22792303, 25252691, 27443420, 30705591, 31253574		★★★★★ ★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	21529986, 25164908, 30008919		★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteoarthritis	Osteoarthritis	Pubtator	32788627	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Ovarian Carcinoma	Ovarian Carcinoma	BEFREE	27443420		★★★★★ ★☆☆☆☆ Found in Text Mining only
ovarian neoplasm	Ovarian neoplasm	LHGDN	18270812		★★★★★ ★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	21799032, 22792303, 27443420	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Sporadic Breast Carcinoma	Breast Carcinoma	BEFREE	25252691		★★★★★ ★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of esophagus	Esophagus Neoplasm	BEFREE	29396516		★★★★★ ★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	35715770	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple Negative Breast Neoplasms	BEFREE	26848770		★★★★★ ★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple negative breast cancer	Pubtator	26848770	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only

UIMC1 (ubiquitin interaction motif containing 1)