• Gene id: 51720

Gene Summary

• Gene Symbol: UIMC1   Gene   UCSC   Ensembl
• Aliases: RAP80, X2HRIP110
• Gene name: ubiquitin interaction motif containing 1
• Alternate names: BRCA1-A complex subunit RAP80, receptor-associated protein 80, retinoid X receptor-interacting protein 110,
• Gene location: 5q35.2 (1801406: 1816047)     Exons: 4     NC_000005.10
• Gene summary(Entrez): 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
• OMIM: 609433

Protein Summary

• Protein general information: Q96RL1  
  • Name: BRCA1 A complex subunit RAP80 (Receptor associated protein 80) (Retinoid X receptor interacting protein 110) (Ubiquitin interaction motif containing protein 1)
  • Length: 719  
  • Mass: 79727
  • Tissue specificity: Expressed in testis, ovary, thymus and heart. Expressed in germ cells of the testis. {ECO
• Sequence:

  MPRRKKKVKEVSESRNLEKKDVETTSSVSVKRKRRLEDAFIVISDSDGEEPKEENGLQKTKTKQSNRAKCLAKRK
  IAQMTEEEQFALALKMSEQEAREVNSQEEEEEELLRKAIAESLNSCRPSDASATRSRPLATGPSSQSHQEKTTDS
  GLTEGIWQLVPPSLFKGSHISQGNEAEEREEPWDHTEKTEEEPVSGSSGSWDQSSQPVFENVNVKSFDRCTGHSA
  EHTQCGKPQESTGRGSAFLKAVQGSGDTSRHCLPTLADAKGLQDTGGTVNYFWGIPFCPDGVDPNQYTKVILCQL
  EVYQKSLKMAQRQLLNKKGFGEPVLPRPPSLIQNECGQGEQASEKNECISEDMGDEDKEERQESRASDWHSKTKD
  FQESSIKSLKEKLLLEEEPTTSHGQSSQGIVEETSEEGNSVPASQSVAALTSKRSLVLMPESSAEEITVCPETQL
  SSSETFDLEREVSPGSRDILDGVRIIMADKEVGNKEDAEKEVAISTFSSSNQVSCPLCDQCFPPTKIERHAMYCN
  GLMEEDTVLTRRQKEAKTKSDSGTAAQTSLDIDKNEKCYLCKSLVPFREYQCHVDSCLQLAKADQGDGPEGSGRA
  CSTVEGKWQQRLKNPKEKGHSEGRLLSFLEQSEHKTSDADIKSSETGAFRVPSPGMEEAGCSREMQSSFTRRDLN
  ESPVKSFVSISEATDCLVDFKKQVTVQPGSRTRTKAGRGRRRKF

• Structural information:
  • Protein Domains: (80..9-)
    (/note="UIM-1)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00213-)
    (105..12-)
    (/note="UIM-2)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00213"-)
  • Interpro: IPR038868  IPR040714  IPR003903  
  • Prosite: PS50330 PS51908
  • PDB: 2MKF 2MKG 2N9E 2RR9
  • PDBsum: 2MKF 2MKG 2N9E 2RR9
  • DIP: 29936
  • STRING: ENSP00000366434
• Other Databases: GeneCards:  UIMC1  Malacards:  UIMC1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0045892	negative regulation of transcription, DNA-templated	IDA	biological process
GO:0005634	nucleus	IDA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0070531	BRCA1-A complex	IBA	cellular component
GO:0042393	histone binding	IBA	molecular function
GO:0070537	histone H2A K63-linked deubiquitination	IBA	biological process
GO:0070530	K63-linked polyubiquitin modification-dependent protein binding	IBA	molecular function
GO:0045739	positive regulation of DNA repair	IBA	biological process
GO:0006302	double-strand break repair	IBA	biological process
GO:0070531	BRCA1-A complex	IDA	cellular component
GO:0070531	BRCA1-A complex	IDA	cellular component
GO:0070531	BRCA1-A complex	IDA	cellular component
GO:0070531	BRCA1-A complex	IDA	cellular component
GO:0070531	BRCA1-A complex	IDA	cellular component
GO:0070531	BRCA1-A complex	IDA	cellular component
GO:0042393	histone binding	IDA	molecular function
GO:0042393	histone binding	IDA	molecular function
GO:0070530	K63-linked polyubiquitin modification-dependent protein binding	IDA	molecular function
GO:0070530	K63-linked polyubiquitin modification-dependent protein binding	IDA	molecular function
GO:0070530	K63-linked polyubiquitin modification-dependent protein binding	IDA	molecular function
GO:0070530	K63-linked polyubiquitin modification-dependent protein binding	IDA	molecular function
GO:0005634	nucleus	IDA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0072425	signal transduction involved in G2 DNA damage checkpoint	IMP	biological process
GO:0072425	signal transduction involved in G2 DNA damage checkpoint	IMP	biological process
GO:0072425	signal transduction involved in G2 DNA damage checkpoint	IMP	biological process
GO:0072425	signal transduction involved in G2 DNA damage checkpoint	IMP	biological process
GO:0072425	signal transduction involved in G2 DNA damage checkpoint	IMP	biological process
GO:0070537	histone H2A K63-linked deubiquitination	IMP	biological process
GO:0045739	positive regulation of DNA repair	IMP	biological process
GO:0045739	positive regulation of DNA repair	IMP	biological process
GO:0045739	positive regulation of DNA repair	IMP	biological process
GO:0045739	positive regulation of DNA repair	IMP	biological process
GO:0045739	positive regulation of DNA repair	IMP	biological process
GO:0010212	response to ionizing radiation	IMP	biological process
GO:0010212	response to ionizing radiation	IMP	biological process
GO:0010212	response to ionizing radiation	IMP	biological process
GO:0010212	response to ionizing radiation	IMP	biological process
GO:0010212	response to ionizing radiation	IMP	biological process
GO:0006302	double-strand break repair	IMP	biological process
GO:0006302	double-strand break repair	IMP	biological process
GO:0006302	double-strand break repair	IMP	biological process
GO:0006302	double-strand break repair	IMP	biological process
GO:0006302	double-strand break repair	IMP	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0070531	BRCA1-A complex	IEA	cellular component
GO:0006302	double-strand break repair	IEA	biological process
GO:0070530	K63-linked polyubiquitin modification-dependent protein binding	IEA	molecular function
GO:0006325	chromatin organization	IEA	biological process
GO:0046872	metal ion binding	IEA	molecular function
GO:0006281	DNA repair	IEA	biological process
GO:0006974	cellular response to DNA damage stimulus	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0016579	protein deubiquitination	TAS	biological process
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0006303	double-strand break repair via nonhomologous end joining	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0016604	nuclear body	IDA	cellular component
GO:0005515	protein binding	IPI	molecular function

KEGG pathways

Pathway id	Pathway name
hsa03440	Homologous recombination

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
Spermatogenic defects	MIK: 31037746
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
31037746	Spermatogenic defects			28 men with azoospermia	Male infertility	Microarray