UniProtKB - Q9NWV8 (BABA1_HUMAN)
BRISC and BRCA1-A complex member 1
BABAM1
Functioni
Component of the BRCA1-A complex, a complex that specifically recognizes 'Lys-63'-linked ubiquitinated histones H2A and H2AX at DNA lesions sites, leading to target the BRCA1-BARD1 heterodimer to sites of DNA damage at double-strand breaks (DSBs). The BRCA1-A complex also possesses deubiquitinase activity that specifically removes 'Lys-63'-linked ubiquitin on histones H2A and H2AX. In the BRCA1-A complex, it is required for the complex integrity and its localization at DSBs. Component of the BRISC complex, a multiprotein complex that specifically cleaves 'Lys-63'-linked ubiquitin in various substrates (PubMed:24075985, PubMed:26195665).
In these 2 complexes, it is probably required to maintain the stability of BABAM2 and help the 'Lys-63'-linked deubiquitinase activity mediated by BRCC3/BRCC36 component. The BRISC complex is required for normal mitotic spindle assembly and microtubule attachment to kinetochores via its role in deubiquitinating NUMA1 (PubMed:26195665).
Plays a role in interferon signaling via its role in the deubiquitination of the interferon receptor IFNAR1; deubiquitination increases IFNAR1 activity by enhancing its stability and cell surface expression (PubMed:24075985).
Down-regulates the response to bacterial lipopolysaccharide (LPS) via its role in IFNAR1 deubiquitination (PubMed:24075985).
3 PublicationsGO - Biological processi
- cell division Source: UniProtKB-KW
- chromatin organization Source: UniProtKB-KW
- double-strand break repair Source: UniProtKB
- histone H2A K63-linked deubiquitination Source: ComplexPortal
- mitotic G2/M transition checkpoint Source: ComplexPortal
- mitotic G2 DNA damage checkpoint signaling Source: UniProtKB
- positive regulation of DNA repair Source: UniProtKB
- protein K63-linked deubiquitination Source: UniProtKB
- regulation of DNA repair Source: ComplexPortal
- response to ionizing radiation Source: UniProtKB
Keywordsi
Molecular function | Chromatin regulator |
Biological process | Cell cycle, Cell division, DNA damage, DNA repair, Mitosis, Ubl conjugation pathway |
Enzyme and pathway databases
PathwayCommonsi | Q9NWV8 |
Reactomei | R-HSA-5689901, Metalloprotease DUBs R-HSA-5693565, Recruitment and ATM-mediated phosphorylation of repair and signaling proteins at DNA double strand breaks R-HSA-5693571, Nonhomologous End-Joining (NHEJ) R-HSA-5693607, Processing of DNA double-strand break ends R-HSA-69473, G2/M DNA damage checkpoint |
SignaLinki | Q9NWV8 |
SIGNORi | Q9NWV8 |
Names & Taxonomyi
Protein namesi | Recommended name: BRISC and BRCA1-A complex member 1Alternative name(s): Mediator of RAP80 interactions and targeting subunit of 40 kDa1 Publication New component of the BRCA1-A complex1 Publication |
Gene namesi | Name:BABAM1 Synonyms:C19orf62, MERIT401 Publication, NBA11 Publication ORF Names:HSPC142 |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
HGNCi | HGNC:25008, BABAM1 |
MIMi | 612766, gene |
neXtProti | NX_Q9NWV8 |
VEuPathDBi | HostDB:ENSG00000105393 |
Subcellular locationi
Cytosol
- cytosol Source: HPA
Nucleus
- BRCA1-A complex Source: UniProtKB
- BRISC complex Source: UniProtKB
- nuclear body Source: HPA
- nucleoplasm Source: HPA
- nucleus Source: UniProtKB
Other locations
- cytoplasm Source: UniProtKB
Keywords - Cellular componenti
Cytoplasm, NucleusPathology & Biotechi
Organism-specific databases
DisGeNETi | 29086 |
OpenTargetsi | ENSG00000105393 |
PharmGKBi | PA162378767 |
Miscellaneous databases
Pharosi | Q9NWV8, Tbio |
Genetic variation databases
BioMutai | BABAM1 |
DMDMi | 74734678 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
ChainiPRO_0000288458 | 1 – 329 | BRISC and BRCA1-A complex member 1Add BLAST | 329 |
Amino acid modifications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Modified residuei | 1 | N-acetylmethionineCombined sources | 1 | |
Modified residuei | 8 | PhosphoserineBy similarity | 1 | |
Modified residuei | 29 | PhosphoserineCombined sources | 1 | |
Modified residuei | 49 | PhosphoserineCombined sources | 1 | |
Modified residuei | 57 | PhosphoserineCombined sources | 1 | |
Modified residuei | 62 | PhosphoserineCombined sources | 1 | |
Modified residuei | 65 | PhosphothreonineCombined sources | 1 | |
Modified residuei | 66 | PhosphoserineCombined sources | 1 |
Keywords - PTMi
Acetylation, PhosphoproteinProteomic databases
EPDi | Q9NWV8 |
jPOSTi | Q9NWV8 |
MassIVEi | Q9NWV8 |
MaxQBi | Q9NWV8 |
PaxDbi | Q9NWV8 |
PeptideAtlasi | Q9NWV8 |
PRIDEi | Q9NWV8 |
ProteomicsDBi | 82986 [Q9NWV8-1] 82987 [Q9NWV8-2] 82988 [Q9NWV8-3] |
PTM databases
GlyGeni | Q9NWV8, 1 site, 1 O-linked glycan (1 site) |
iPTMneti | Q9NWV8 |
PhosphoSitePlusi | Q9NWV8 |
Expressioni
Gene expression databases
Bgeei | ENSG00000105393, Expressed in anterior cingulate cortex and 235 other tissues |
ExpressionAtlasi | Q9NWV8, baseline and differential |
Genevisiblei | Q9NWV8, HS |
Organism-specific databases
HPAi | ENSG00000105393, Low tissue specificity |
Interactioni
Subunit structurei
Component of the ARISC complex, at least composed of UIMC1/RAP80, ABRAXAS1, BRCC3/BRCC36, BABAM2 and BABAM1/NBA1 (PubMed:24075985).
Component of the BRCA1-A complex, at least composed of BRCA1, BARD1, UIMC1/RAP80, ABRAXAS1, BRCC3/BRCC36, BABAM2 and BABAM1/NBA1 (PubMed:19261746, PubMed:19261749, PubMed:19261748, PubMed:21282113). In the BRCA1-A complex, interacts directly with ABRAXAS1 and BABAM2 (PubMed:19261749, PubMed:19261748).
Component of the BRISC complex, at least composed of ABRAXAS2, BRCC3/BRCC36, BABAM2 and BABAM1/NBA1 (PubMed:19214193, PubMed:21282113, PubMed:24075985, PubMed:25283148).
Identified in a complex with SHMT2 and the other subunits of the BRISC complex (PubMed:24075985).
7 PublicationsBinary interactionsi
Q9NWV8
With | #Exp. | IntAct |
---|---|---|
BABAM2 [Q9NXR7] | 6 | EBI-745725,EBI-949389 |
TERF2IP [Q9NYB0] | 2 | EBI-745725,EBI-750109 |
TNKS2 [Q9H2K2] | 5 | EBI-745725,EBI-4398527 |
TRIM27 [P14373] | 7 | EBI-745725,EBI-719493 |
Protein-protein interaction databases
BioGRIDi | 118855, 90 interactors |
ComplexPortali | CPX-4425, BRCA1-A complex |
ELMi | Q9NWV8 |
IntActi | Q9NWV8, 62 interactors |
MINTi | Q9NWV8 |
STRINGi | 9606.ENSP00000352408 |
Chemistry databases
BindingDBi | Q9NWV8 |
Miscellaneous databases
RNActi | Q9NWV8, protein |
Family & Domainsi
Region
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Regioni | 1 – 84 | DisorderedSequence analysisAdd BLAST | 84 | |
Regioni | 95 – 298 | VWFA-likeAdd BLAST | 204 |
Compositional bias
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Compositional biasi | 1 – 18 | Acidic residuesSequence analysisAdd BLAST | 18 | |
Compositional biasi | 19 – 33 | Basic and acidic residuesSequence analysisAdd BLAST | 15 |
Domaini
Sequence similaritiesi
Phylogenomic databases
eggNOGi | ENOG502QPZP, Eukaryota |
GeneTreei | ENSGT00390000016934 |
InParanoidi | Q9NWV8 |
OMAi | QCTPFKL |
PhylomeDBi | Q9NWV8 |
TreeFami | TF329070 |
Family and domain databases
Gene3Di | 3.40.50.410, 1 hit |
InterProi | View protein in InterPro IPR026126, BABAM1 IPR036465, vWFA_dom_sf |
PANTHERi | PTHR15660, PTHR15660, 1 hit |
SUPFAMi | SSF53300, SSF53300, 1 hit |
s (3+)i Sequence
Sequence statusi: Complete.
This entry describes 3 produced by isoformsialternative splicing. AlignAdd to basketThis entry has 3 described isoforms and 11 potential isoforms that are computationally mapped.Show allAlign All
This isoform has been chosen as the sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry. canonicali
10 20 30 40 50
MEVAEPSSPT EEEEEEEEHS AEPRPRTRSN PEGAEDRAVG AQASVGSRSE
60 70 80 90 100
GEGEAASADD GSLNTSGAGP KSWQVPPPAP EVQIRTPRVN CPEKVIICLD
110 120 130 140 150
LSEEMSLPKL ESFNGSKTNA LNVSQKMIEM FVRTKHKIDK SHEFALVVVN
160 170 180 190 200
DDTAWLSGLT SDPRELCSCL YDLETASCST FNLEGLFSLI QQKTELPVTE
210 220 230 240 250
NVQTIPPPYV VRTILVYSRP PCQPQFSLTE PMKKMFQCPY FFFDVVYIHN
260 270 280 290 300
GTEEKEEEMS WKDMFAFMGS LDTKGTSYKY EVALAGPALE LHNCMAKLLA
310 320
HPLQRPCQSH ASYSLLEEED EAIEVEATV
Computationally mapped potential isoform sequencesi
There are 11 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basketM0R0I0 | M0R0I0_HUMAN | BRISC and BRCA1-A complex member 1 | BABAM1 | 225 | Annotation score: | ||
M0R193 | M0R193_HUMAN | BRISC and BRCA1-A complex member 1 | BABAM1 | 218 | Annotation score: | ||
M0R2I2 | M0R2I2_HUMAN | BRISC and BRCA1-A complex member 1 | BABAM1 | 237 | Annotation score: | ||
M0R2K3 | M0R2K3_HUMAN | BRISC and BRCA1-A complex member 1 | BABAM1 | 200 | Annotation score: | ||
M0R3F4 | M0R3F4_HUMAN | BRISC and BRCA1-A complex member 1 | BABAM1 | 181 | Annotation score: | ||
M0R2A4 | M0R2A4_HUMAN | BRISC and BRCA1-A complex member 1 | BABAM1 | 193 | Annotation score: | ||
J3KQS6 | J3KQS6_HUMAN | BRISC and BRCA1-A complex member 1 | BABAM1 | 254 | Annotation score: | ||
M0QYV1 | M0QYV1_HUMAN | BRISC and BRCA1-A complex member 1 | BABAM1 | 97 | Annotation score: | ||
M0R3H9 | M0R3H9_HUMAN | BRISC and BRCA1-A complex member 1 | BABAM1 | 60 | Annotation score: | ||
M0QXG9 | M0QXG9_HUMAN | BRISC and BRCA1-A complex member 1 | BABAM1 | 108 | Annotation score: | ||
There is more potential isoformShow all |
Sequence cautioni
Experimental Info
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Sequence conflicti | 76 | P → S in CAG38557 (Ref. 4) Curated | 1 | |
Sequence conflicti | 288 | A → V in CAG38557 (Ref. 4) Curated | 1 | |
Sequence conflicti | 302 | P → S in CAG38557 (Ref. 4) Curated | 1 |
Alternative sequence
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Alternative sequenceiVSP_037246 | 1 – 115 | MEVAE…ESFNG → MMGASTLQEPALSPGRCPRQ PLRSKFGHHGSTVQRKC in isoform 2. 1 PublicationAdd BLAST | 115 | |
Alternative sequenceiVSP_037247 | 116 – 190 | Missing in isoform 3. 1 PublicationAdd BLAST | 75 | |
Alternative sequenceiVSP_037248 | 234 – 329 | KMFQC…VEATV → VGEAWEREGCLQP in isoform 3. 1 PublicationAdd BLAST | 96 | |
Alternative sequenceiVSP_037249 | 263 – 329 | Missing in isoform 2. 1 PublicationAdd BLAST | 67 |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AF161491 mRNA Translation: AAF29106.1 Frameshift. AL136692 mRNA Translation: CAB66627.1 AK000578 mRNA Translation: BAA91268.1 AK299493 mRNA Translation: BAG61451.1 AK301193 mRNA Translation: BAG62773.1 CR533526 mRNA Translation: CAG38557.1 AC104522 Genomic DNA No translation available. BC000788 mRNA Translation: AAH00788.1 BC006244 mRNA Translation: AAH06244.1 BC091491 mRNA Translation: AAH91491.1 |
CCDSi | CCDS46012.1 [Q9NWV8-1] |
RefSeqi | NP_001028721.1, NM_001033549.2 [Q9NWV8-1] NP_001275685.1, NM_001288756.1 [Q9NWV8-1] NP_001275686.1, NM_001288757.1 NP_054892.2, NM_014173.3 [Q9NWV8-1] |
Genome annotation databases
Ensembli | ENST00000359435.8; ENSP00000352408.3; ENSG00000105393.16 ENST00000598188.6; ENSP00000471605.1; ENSG00000105393.16 ENST00000601043.5; ENSP00000470920.1; ENSG00000105393.16 |
GeneIDi | 29086 |
KEGGi | hsa:29086 |
MANE-Selecti | ENST00000598188.6; ENSP00000471605.1; NM_014173.4; NP_054892.2 |
UCSCi | uc002nfu.5, human [Q9NWV8-1] |
Keywords - Coding sequence diversityi
Alternative splicingSimilar proteinsi
Cross-referencesi
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AF161491 mRNA Translation: AAF29106.1 Frameshift. AL136692 mRNA Translation: CAB66627.1 AK000578 mRNA Translation: BAA91268.1 AK299493 mRNA Translation: BAG61451.1 AK301193 mRNA Translation: BAG62773.1 CR533526 mRNA Translation: CAG38557.1 AC104522 Genomic DNA No translation available. BC000788 mRNA Translation: AAH00788.1 BC006244 mRNA Translation: AAH06244.1 BC091491 mRNA Translation: AAH91491.1 |
CCDSi | CCDS46012.1 [Q9NWV8-1] |
RefSeqi | NP_001028721.1, NM_001033549.2 [Q9NWV8-1] NP_001275685.1, NM_001288756.1 [Q9NWV8-1] NP_001275686.1, NM_001288757.1 NP_054892.2, NM_014173.3 [Q9NWV8-1] |
3D structure databases
Select the link destinations: PDBei RCSB PDBi PDBji Links Updated | PDB entry | Method | Resolution (Å) | Chain | Positions | PDBsum |
6H3C | electron microscopy | 3.90 | D/I | 1-329 | [»] | |
AlphaFoldDBi | Q9NWV8 | |||||
SMRi | Q9NWV8 | |||||
ModBasei | Search... | |||||
PDBe-KBi | Search... |
Protein-protein interaction databases
BioGRIDi | 118855, 90 interactors |
ComplexPortali | CPX-4425, BRCA1-A complex |
ELMi | Q9NWV8 |
IntActi | Q9NWV8, 62 interactors |
MINTi | Q9NWV8 |
STRINGi | 9606.ENSP00000352408 |
Chemistry databases
BindingDBi | Q9NWV8 |
PTM databases
GlyGeni | Q9NWV8, 1 site, 1 O-linked glycan (1 site) |
iPTMneti | Q9NWV8 |
PhosphoSitePlusi | Q9NWV8 |
Genetic variation databases
BioMutai | BABAM1 |
DMDMi | 74734678 |
Proteomic databases
EPDi | Q9NWV8 |
jPOSTi | Q9NWV8 |
MassIVEi | Q9NWV8 |
MaxQBi | Q9NWV8 |
PaxDbi | Q9NWV8 |
PeptideAtlasi | Q9NWV8 |
PRIDEi | Q9NWV8 |
ProteomicsDBi | 82986 [Q9NWV8-1] 82987 [Q9NWV8-2] 82988 [Q9NWV8-3] |
Protocols and materials databases
Antibodypediai | 27571, 233 antibodies from 25 providers |
DNASUi | 29086 |
Genome annotation databases
Ensembli | ENST00000359435.8; ENSP00000352408.3; ENSG00000105393.16 ENST00000598188.6; ENSP00000471605.1; ENSG00000105393.16 ENST00000601043.5; ENSP00000470920.1; ENSG00000105393.16 |
GeneIDi | 29086 |
KEGGi | hsa:29086 |
MANE-Selecti | ENST00000598188.6; ENSP00000471605.1; NM_014173.4; NP_054892.2 |
UCSCi | uc002nfu.5, human [Q9NWV8-1] |
Organism-specific databases
CTDi | 29086 |
DisGeNETi | 29086 |
GeneCardsi | BABAM1 |
HGNCi | HGNC:25008, BABAM1 |
HPAi | ENSG00000105393, Low tissue specificity |
MIMi | 612766, gene |
neXtProti | NX_Q9NWV8 |
OpenTargetsi | ENSG00000105393 |
PharmGKBi | PA162378767 |
VEuPathDBi | HostDB:ENSG00000105393 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | ENOG502QPZP, Eukaryota |
GeneTreei | ENSGT00390000016934 |
InParanoidi | Q9NWV8 |
OMAi | QCTPFKL |
PhylomeDBi | Q9NWV8 |
TreeFami | TF329070 |
Enzyme and pathway databases
PathwayCommonsi | Q9NWV8 |
Reactomei | R-HSA-5689901, Metalloprotease DUBs R-HSA-5693565, Recruitment and ATM-mediated phosphorylation of repair and signaling proteins at DNA double strand breaks R-HSA-5693571, Nonhomologous End-Joining (NHEJ) R-HSA-5693607, Processing of DNA double-strand break ends R-HSA-69473, G2/M DNA damage checkpoint |
SignaLinki | Q9NWV8 |
SIGNORi | Q9NWV8 |
Miscellaneous databases
BioGRID-ORCSi | 29086, 26 hits in 1094 CRISPR screens |
ChiTaRSi | BABAM1, human |
GeneWikii | C19orf62 |
GenomeRNAii | 29086 |
Pharosi | Q9NWV8, Tbio |
PROi | PR:Q9NWV8 |
RNActi | Q9NWV8, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000105393, Expressed in anterior cingulate cortex and 235 other tissues |
ExpressionAtlasi | Q9NWV8, baseline and differential |
Genevisiblei | Q9NWV8, HS |
Family and domain databases
Gene3Di | 3.40.50.410, 1 hit |
InterProi | View protein in InterPro IPR026126, BABAM1 IPR036465, vWFA_dom_sf |
PANTHERi | PTHR15660, PTHR15660, 1 hit |
SUPFAMi | SSF53300, SSF53300, 1 hit |
MobiDBi | Search... |
Entry informationi
Entry namei | BABA1_HUMAN | |
Accessioni | Q9NWV8Primary (citable) accession number: Q9NWV8 Secondary accession number(s): A8MQT0 Q9P018 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | May 29, 2007 |
Last sequence update: | October 1, 2000 | |
Last modified: | May 25, 2022 | |
This is version 157 of the entry and version 1 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. |
Miscellaneousi
Keywords - Technical termi
3D-structure, Reference proteomeDocuments
- Human chromosome 19
Human chromosome 19: entries, gene names and cross-references to MIM - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot - PDB cross-references
Index of Protein Data Bank (PDB) cross-references - SIMILARITY comments
Index of protein domains and families