UIMC1
BRCA1-A complex subunit RAP80
Also known as: RAP80, UIMC1_HUMAN
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- Q96RL1
- Gene
- UIMC1
- Ensembl
- ENSG00000087206
- Chromosome
- 5
- Canonical length
- 719 aa
- Protein class
- Predicted intracellular proteins
- Subcellular location
- Nucleoplasm,Nuclear bodies
OverviewNCBI 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]
Canonical amino-acid sequenceUniProt
719 residues, UniProt reviewed canonical sequence.
>Q96RL1|UIMC1
1 MPRRKKKVKE VSESRNLEKK DVETTSSVSV KRKRRLEDAF IVISDSDGEE PKEENGLQKT
61 KTKQSNRAKC LAKRKIAQMT EEEQFALALK MSEQEAREVN SQEEEEEELL RKAIAESLNS
121 CRPSDASATR SRPLATGPSS QSHQEKTTDS GLTEGIWQLV PPSLFKGSHI SQGNEAEERE
181 EPWDHTEKTE EEPVSGSSGS WDQSSQPVFE NVNVKSFDRC TGHSAEHTQC GKPQESTGRG
241 SAFLKAVQGS GDTSRHCLPT LADAKGLQDT GGTVNYFWGI PFCPDGVDPN QYTKVILCQL
301 EVYQKSLKMA QRQLLNKKGF GEPVLPRPPS LIQNECGQGE QASEKNECIS EDMGDEDKEE
361 RQESRASDWH SKTKDFQESS IKSLKEKLLL EEEPTTSHGQ SSQGIVEETS EEGNSVPASQ
421 SVAALTSKRS LVLMPESSAE EITVCPETQL SSSETFDLER EVSPGSRDIL DGVRIIMADK
481 EVGNKEDAEK EVAISTFSSS NQVSCPLCDQ CFPPTKIERH AMYCNGLMEE DTVLTRRQKE
541 AKTKSDSGTA AQTSLDIDKN EKCYLCKSLV PFREYQCHVD SCLQLAKADQ GDGPEGSGRA
601 CSTVEGKWQQ RLKNPKEKGH SEGRLLSFLE QSEHKTSDAD IKSSETGAFR VPSPGMEEAG
661 CSREMQSSFT RRDLNESPVK SFVSISEATD CLVDFKKQVT VQPGSRTRTK AGRGRRRKFLocalizationUniProt · AlphaFold · HPA
Whether an antibody against UIMC1 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.
- Antibody reachability
- Intracellular
- Secreted
- No
- Transmembrane segments
- 0
- Mean surface accessibility (rSASA)
- 0.67
- Highest tissue expression
- 59 nTPM
Expression across tissuesHPA
Tissue
- testis: 59 nTPM
- bone marrow: 57 nTPM
- blood vessel: 35 nTPM
- ovary: 33 nTPM
- colon: 31 nTPM
- spleen: 30 nTPM
Single-cell type
- neutrophils: 411 nCPM
- platelets: 312 nCPM
- early primary spermatocytes: 200 nCPM
- cardiomyocytes: 184 nCPM
- myonuclei: 171 nCPM
- neutrophil progenitors: 164 nCPM
Immune cell
- neutrophil: 65 nTPM
- eosinophil: 33 nTPM
- basophil: 16 nTPM
- T-reg: 15 nTPM
- NK-cell: 15 nTPM
- naive B-cell: 14 nTPM
Brain region
- cerebellum: 42 nTPM
- choroid plexus: 35 nTPM
- cerebral cortex: 33 nTPM
- white matter: 32 nTPM
- basal ganglia: 29 nTPM
- amygdala: 28 nTPM
Genetic constraint and essentialitygnomAD · DepMap
Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.
- gnomAD LOEUF (loss-of-function intolerance)
- 0.65
- gnomAD pLI
- 0
- gnomAD missense Z
- 0.71
- DepMap mean gene effect
- 0.01
- DepMap dependency class
- selective
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 6% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
- DNA repair-dependent chromatin remodeling
- double-strand break repair
- mitotic G2 DNA damage checkpoint signaling
- mitotic G2/M transition checkpoint
- negative regulation of DNA-templated transcription
- positive regulation of DNA repair
- regulation of DNA repair
- response to ionizing radiation
Molecular functions
- DNA binding
- histone binding
- K63-linked polyubiquitin modification-dependent protein binding
- ubiquitin-modified histone reader activity
- zinc ion binding
Cellular components
Protein domainsUniProt · Pfam · InterPro
- Ubiquitin interacting motif
- Rad18, zinc finger UBZ4-type
- BRCA1-A complex subunit RAP80
- RAP80, N-terminal
- RAP80 N-terminal ubiquitin interaction motif
KeywordsUniProt
InteractionsUniProt · HPA
Protein binding partners of UIMC1 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads UIMC1 as an antibody target. Whether an autoantibody or antibody against UIMC1 could matter depends on whether native UIMC1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
UIMC1 is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.
Annotation status
The present source text does not explicitly label UIMC1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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