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UniProtKB - Q9NWV8 (BABA1_HUMAN)

Protein

BRISC and BRCA1-A complex member 1

Gene

BABAM1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

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 Publications

GO - Biological processi

View the complete GO annotation on QuickGO ...

Keywordsi

Molecular functionChromatin regulator
Biological processCell cycle, Cell division, DNA damage, DNA repair, Mitosis, Ubl conjugation pathway

Enzyme and pathway databases

ReactomeiR-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

Names & Taxonomyi

Protein namesi
Recommended name:
BRISC and BRCA1-A complex member 1
Alternative 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
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
Proteomesi
  • UP000005640 Componenti: Chromosome 19

Organism-specific databases

EuPathDBiHostDB:ENSG00000105393.15
HGNCiHGNC:25008 BABAM1
MIMi612766 gene
neXtProtiNX_Q9NWV8

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Cytoplasm, Nucleus

Pathology & Biotechi

Organism-specific databases

DisGeNETi29086
OpenTargetsiENSG00000105393
PharmGKBiPA162378767

Polymorphism and mutation databases

DMDMi74734678

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00002884581 – 329BRISC and BRCA1-A complex member 1Add BLAST329

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei1N-acetylmethionineCombined sources1
Modified residuei8PhosphoserineBy similarity1
Modified residuei29PhosphoserineCombined sources1
Modified residuei49PhosphoserineCombined sources1
Modified residuei57PhosphoserineCombined sources1
Modified residuei62PhosphoserineCombined sources1
Modified residuei65PhosphothreonineCombined sources1
Modified residuei66PhosphoserineCombined sources1

Keywords - PTMi

Acetylation, Phosphoprotein

Proteomic databases

EPDiQ9NWV8
MaxQBiQ9NWV8
PaxDbiQ9NWV8
PeptideAtlasiQ9NWV8
PRIDEiQ9NWV8
ProteomicsDBi82986
82987 [Q9NWV8-2]
82988 [Q9NWV8-3]

PTM databases

iPTMnetiQ9NWV8
PhosphoSitePlusiQ9NWV8

Expressioni

Gene expression databases

BgeeiENSG00000105393 Expressed in 223 organ(s), highest expression level in anterior cingulate cortex
CleanExiHS_C19orf62
ExpressionAtlasiQ9NWV8 baseline and differential
GenevisibleiQ9NWV8 HS

Organism-specific databases

HPAiHPA054386
HPA068786

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 Publications

Binary interactionsi

Protein-protein interaction databases

BioGridi118855, 71 interactors
ELMiQ9NWV8
IntActiQ9NWV8, 56 interactors
MINTiQ9NWV8
STRINGi9606.ENSP00000352408

Chemistry databases

BindingDBiQ9NWV8

Structurei

3D structure databases

ProteinModelPortaliQ9NWV8
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni95 – 298VWFA-likeAdd BLAST204

Domaini

The VWFA-like region is similar to the VWFA domain. Its presence reveals similarities between the structure of the 19S proteasome and the BRCA1-A complexes.1 Publication

Sequence similaritiesi

Belongs to the BABAM1 family.Curated

Phylogenomic databases

eggNOGiENOG410IF7E Eukaryota
ENOG4111NFW LUCA
GeneTreeiENSGT00390000016934
InParanoidiQ9NWV8
KOiK20776
OMAiRPFQSHA
OrthoDBiEOG091G0SJH
PhylomeDBiQ9NWV8
TreeFamiTF329070

Family and domain databases

InterProiView protein in InterPro
IPR026126 BABAM1
IPR036465 vWFA_dom_sf
PANTHERiPTHR15660 PTHR15660, 1 hit
SUPFAMiSSF53300 SSF53300, 1 hit

Sequences (3+)i

Sequence statusi: Complete.

This entry describes 3 isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 3 described isoforms and 11 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: Q9NWV8-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide
        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
Length:329
Mass (Da):36,560
Last modified:October 1, 2000 - v1
Checksum:i7A84D8EE6D03C1DB
GO
Isoform 2 (identifier: Q9NWV8-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-115: MEVAEPSSPT...SLPKLESFNG → MMGASTLQEP...HHGSTVQRKC
     263-329: Missing.

Note: No experimental confirmation available.
Show »
Length:184
Mass (Da):21,028
Checksum:iFC1769F1757DAC76
GO
Isoform 3 (identifier: Q9NWV8-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     116-190: Missing.
     234-329: KMFQCPYFFF...DEAIEVEATV → VGEAWEREGCLQP

Note: No experimental confirmation available.
Show »
Length:171
Mass (Da):18,621
Checksum:i1848B7FE13066DF1
GO

Computationally mapped potential isoform sequencesi

There are 11 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
J3KQS6J3KQS6_HUMAN
BRISC and BRCA1-A complex member 1
BABAM1
254Annotation score:
M0R0I0M0R0I0_HUMAN
BRISC and BRCA1-A complex member 1
BABAM1
225Annotation score:
M0R3F4M0R3F4_HUMAN
BRISC and BRCA1-A complex member 1
BABAM1
181Annotation score:
M0R2I2M0R2I2_HUMAN
BRISC and BRCA1-A complex member 1
BABAM1
237Annotation score:
M0R2A4M0R2A4_HUMAN
BRISC and BRCA1-A complex member 1
BABAM1
193Annotation score:
M0R193M0R193_HUMAN
BRISC and BRCA1-A complex member 1
BABAM1
218Annotation score:
M0R2K3M0R2K3_HUMAN
BRISC and BRCA1-A complex member 1
BABAM1
200Annotation score:
M0QYV1M0QYV1_HUMAN
BRISC and BRCA1-A complex member 1
BABAM1
97Annotation score:
M0R3H9M0R3H9_HUMAN
BRISC and BRCA1-A complex member 1
BABAM1
60Annotation score:
M0QXG9M0QXG9_HUMAN
BRISC and BRCA1-A complex member 1
BABAM1
108Annotation score:
There is more potential isoformShow all

Sequence cautioni

The sequence AAF29106 differs from that shown. Reason: Frameshift at position 263.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti76P → S in CAG38557 (Ref. 4) Curated1
Sequence conflicti288A → V in CAG38557 (Ref. 4) Curated1
Sequence conflicti302P → S in CAG38557 (Ref. 4) Curated1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0372461 – 115MEVAE…ESFNG → MMGASTLQEPALSPGRCPRQ PLRSKFGHHGSTVQRKC in isoform 2. 1 PublicationAdd BLAST115
Alternative sequenceiVSP_037247116 – 190Missing in isoform 3. 1 PublicationAdd BLAST75
Alternative sequenceiVSP_037248234 – 329KMFQC…VEATV → VGEAWEREGCLQP in isoform 3. 1 PublicationAdd BLAST96
Alternative sequenceiVSP_037249263 – 329Missing in isoform 2. 1 PublicationAdd BLAST67

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
CCDSiCCDS46012.1 [Q9NWV8-1]
RefSeqiNP_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]
UniGeneiHs.190722

Genome annotation databases

EnsembliENST00000359435; ENSP00000352408; ENSG00000105393 [Q9NWV8-1]
ENST00000598188; ENSP00000471605; ENSG00000105393 [Q9NWV8-1]
ENST00000601043; ENSP00000470920; ENSG00000105393 [Q9NWV8-1]
GeneIDi29086
KEGGihsa:29086
UCSCiuc002nfu.5 human [Q9NWV8-1]

Keywords - Coding sequence diversityi

Alternative splicing

Similar 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
CCDSiCCDS46012.1 [Q9NWV8-1]
RefSeqiNP_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]
UniGeneiHs.190722

3D structure databases

ProteinModelPortaliQ9NWV8
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi118855, 71 interactors
ELMiQ9NWV8
IntActiQ9NWV8, 56 interactors
MINTiQ9NWV8
STRINGi9606.ENSP00000352408

Chemistry databases

BindingDBiQ9NWV8

PTM databases

iPTMnetiQ9NWV8
PhosphoSitePlusiQ9NWV8

Polymorphism and mutation databases

DMDMi74734678

Proteomic databases

EPDiQ9NWV8
MaxQBiQ9NWV8
PaxDbiQ9NWV8
PeptideAtlasiQ9NWV8
PRIDEiQ9NWV8
ProteomicsDBi82986
82987 [Q9NWV8-2]
82988 [Q9NWV8-3]

Protocols and materials databases

DNASUi29086
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000359435; ENSP00000352408; ENSG00000105393 [Q9NWV8-1]
ENST00000598188; ENSP00000471605; ENSG00000105393 [Q9NWV8-1]
ENST00000601043; ENSP00000470920; ENSG00000105393 [Q9NWV8-1]
GeneIDi29086
KEGGihsa:29086
UCSCiuc002nfu.5 human [Q9NWV8-1]

Organism-specific databases

CTDi29086
DisGeNETi29086
EuPathDBiHostDB:ENSG00000105393.15
GeneCardsiBABAM1
H-InvDBiHIX0014885
HGNCiHGNC:25008 BABAM1
HPAiHPA054386
HPA068786
MIMi612766 gene
neXtProtiNX_Q9NWV8
OpenTargetsiENSG00000105393
PharmGKBiPA162378767
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410IF7E Eukaryota
ENOG4111NFW LUCA
GeneTreeiENSGT00390000016934
InParanoidiQ9NWV8
KOiK20776
OMAiRPFQSHA
OrthoDBiEOG091G0SJH
PhylomeDBiQ9NWV8
TreeFamiTF329070

Enzyme and pathway databases

ReactomeiR-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

Miscellaneous databases

ChiTaRSiBABAM1 human
GeneWikiiC19orf62
GenomeRNAii29086
PROiPR:Q9NWV8
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000105393 Expressed in 223 organ(s), highest expression level in anterior cingulate cortex
CleanExiHS_C19orf62
ExpressionAtlasiQ9NWV8 baseline and differential
GenevisibleiQ9NWV8 HS

Family and domain databases

InterProiView protein in InterPro
IPR026126 BABAM1
IPR036465 vWFA_dom_sf
PANTHERiPTHR15660 PTHR15660, 1 hit
SUPFAMiSSF53300 SSF53300, 1 hit
ProtoNetiSearch...

Entry informationi

Entry nameiBABA1_HUMAN
AccessioniPrimary (citable) accession number: Q9NWV8
Secondary accession number(s): A8MQT0
, B4DRY9, B4DVR1, Q6FIA0, Q9P018
Entry historyiIntegrated into UniProtKB/Swiss-Prot: May 29, 2007
Last sequence update: October 1, 2000
Last modified: September 12, 2018
This is version 137 of the entry and version 1 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny 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

Complete proteome, Reference proteome

Documents

  1. SIMILARITY comments
    Index of protein domains and families
  2. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  3. Human chromosome 19
    Human chromosome 19: entries, gene names and cross-references to MIM
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