Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.
Protein

BRISC and BRCA1-A complex member 1

Gene

BABAM1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-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 BRE/BRCC45 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

  • cell division Source: UniProtKB-KW
  • chromatin modification Source: UniProtKB-KW
  • double-strand break repair Source: UniProtKB
  • double-strand break repair via nonhomologous end joining Source: Reactome
  • G2 DNA damage checkpoint Source: UniProtKB
  • mitotic nuclear division Source: UniProtKB-KW
  • positive regulation of DNA repair Source: UniProtKB
  • protein K63-linked deubiquitination Source: UniProtKB
  • response to ionizing radiation Source: UniProtKB
Complete GO annotation...

Keywords - Molecular functioni

Chromatin regulator

Keywords - Biological processi

Cell 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 lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 19

Organism-specific databases

HGNCiHGNC:25008. BABAM1.

Subcellular locationi

GO - Cellular componenti

  • BRCA1-A complex Source: UniProtKB
  • BRISC complex Source: UniProtKB
  • cytoplasm Source: UniProtKB
  • nucleoplasm Source: Reactome
  • nucleus Source: UniProtKB
Complete GO annotation...

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.

PTM databases

iPTMnetiQ9NWV8.
PhosphoSitePlusiQ9NWV8.

Expressioni

Gene expression databases

BgeeiENSG00000105393.
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, FAM175A/Abraxas, BRCC3/BRCC36, BRE/BRCC45 and BABAM1/NBA1 (PubMed:24075985). Component of the BRCA1-A complex, at least composed of BRCA1, BARD1, UIMC1/RAP80, FAM175A/Abraxas, BRCC3/BRCC36, BRE/BRCC45 and BABAM1/NBA1 (PubMed:19261746, PubMed:19261749, PubMed:19261748, PubMed:21282113). In the BRCA1-A complex, interacts directly with FAM175A/Abraxas and BRE/BRCC45 (PubMed:19261749, PubMed:19261748). Component of the BRISC complex, at least composed of FAM175B/ABRO1, BRCC3/BRCC36, BRE/BRCC45 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

WithEntry#Exp.IntActNotes
BREQ9NXR73EBI-745725,EBI-949389
TERF2IPQ9NYB02EBI-745725,EBI-750109
TNKS2Q9H2K24EBI-745725,EBI-4398527
TRIM27P143735EBI-745725,EBI-719493

Protein-protein interaction databases

BioGridi118855. 63 interactors.
IntActiQ9NWV8. 80 interactors.
MINTiMINT-4712566.
STRINGi9606.ENSP00000352408.

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

InterProiIPR026126. BABAM1.
IPR002035. VWF_A.
[Graphical view]
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

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

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

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. 63 interactors.
IntActiQ9NWV8. 80 interactors.
MINTiMINT-4712566.
STRINGi9606.ENSP00000352408.

PTM databases

iPTMnetiQ9NWV8.
PhosphoSitePlusiQ9NWV8.

Polymorphism and mutation databases

DMDMi74734678.

Proteomic databases

EPDiQ9NWV8.
MaxQBiQ9NWV8.
PaxDbiQ9NWV8.
PeptideAtlasiQ9NWV8.
PRIDEiQ9NWV8.

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.
GeneCardsiBABAM1.
H-InvDBHIX0014885.
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.
PROiQ9NWV8.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000105393.
CleanExiHS_C19orf62.
ExpressionAtlasiQ9NWV8. baseline and differential.
GenevisibleiQ9NWV8. HS.

Family and domain databases

InterProiIPR026126. BABAM1.
IPR002035. VWF_A.
[Graphical view]
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 historyi
Integrated into UniProtKB/Swiss-Prot: May 29, 2007
Last sequence update: October 1, 2000
Last modified: November 30, 2016
This is version 120 of the entry and version 1 of the sequence. [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. Human chromosome 19
    Human chromosome 19: entries, gene names and cross-references to MIM
  2. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  3. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.