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Protein

BRCA1-A complex subunit Abraxas 1

Gene

ABRAXAS1

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

Functioni

Involved in DNA damage response and double-strand break (DSB) repair. Component of the BRCA1-A complex, acting as a central scaffold protein that assembles the various components of the complex and mediates the recruitment of BRCA1. The BRCA1-A complex specifically recognizes 'Lys-63'-linked ubiquitinated histones H2A and H2AX at DNA lesion sites, leading to target the BRCA1-BARD1 heterodimer to sites of DNA damage at DSBs. This complex also possesses deubiquitinase activity that specifically removes 'Lys-63'-linked ubiquitin on histones H2A and H2AX.7 Publications

GO - Molecular functioni

  • polyubiquitin modification-dependent protein binding Source: UniProtKB

GO - Biological processi

Keywordsi

Molecular functionChromatin regulator
Biological processDNA damage, DNA repair

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
SIGNORiQ6UWZ7

Names & Taxonomyi

Protein namesi
Recommended name:
BRCA1-A complex subunit Abraxas 1Imported
Alternative name(s):
Coiled-coil domain-containing protein 98
Protein FAM175A
Gene namesi
Name:ABRAXAS1Imported
Synonyms:ABRA1Imported, CCDC98, FAM175AImported
ORF Names:UNQ496/PRO1013
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 4

Organism-specific databases

EuPathDBiHostDB:ENSG00000163322.13
HGNCiHGNC:25829 ABRAXAS1
MIMi611143 gene
neXtProtiNX_Q6UWZ7

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

Nucleus

Pathology & Biotechi

Involvement in diseasei

Breast cancer (BC)2 Publications
Disease susceptibility is associated with variations affecting the gene represented in this entry.
Disease descriptionA common malignancy originating from breast epithelial tissue. Breast neoplasms can be distinguished by their histologic pattern. Invasive ductal carcinoma is by far the most common type. Breast cancer is etiologically and genetically heterogeneous. Important genetic factors have been indicated by familial occurrence and bilateral involvement. Mutations at more than one locus can be involved in different families or even in the same case.
See also OMIM:114480
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_071865361R → Q in BC; results in reduced DSB repair efficiency; primarily localizes to the cytoplasm and has reduced nuclear localization; does not affect interaction with BRCA1; results in highly reduced interaction with UIMC1/RAP80. 2 PublicationsCorresponds to variant dbSNP:rs201627097Ensembl.1

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Mutagenesisi400F → D: No effect on formation of a heterotetramer with BRCA1. 1 Publication1
Mutagenesisi402E → R: Decreases formation of a heterotetramer with BRCA1. 1 Publication1
Mutagenesisi403Y → A: No effect on formation of a heterotetramer with BRCA1. 1 Publication1
Mutagenesisi404S → A: No effect on homodimerization. Mildly decreased recruitment of BRCA1 to sites of DNA damage. 1 Publication1
Mutagenesisi404S → D: Permits formation of a heterotetramer with BRCA1. 1 Publication1
Mutagenesisi404S → P: Abolishes formation of a heterotetramer with BRCA1. Does not affect interaction with a first BRCA1 chain. 1 Publication1
Mutagenesisi406S → A: Abolishes phosphorylation of the pSXXF motif and the interaction with BRCA1 but does not affect the interaction with UIMC1/RAP80. Strongly decreases recruitment of BRCA1 to sites of DNA damage. No effect on homodimerization. 4 Publications1

Keywords - Diseasei

Disease mutation

Organism-specific databases

DisGeNETi84142
MalaCardsiABRAXAS1
MIMi114480 phenotype
OpenTargetsiENSG00000163322
PharmGKBiPA162387308

Polymorphism and mutation databases

BioMutaiFAM175A
DMDMi126215684

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00002785751 – 409BRCA1-A complex subunit Abraxas 1Add BLAST409

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei48PhosphoserineBy similarity1
Modified residuei386PhosphoserineCombined sources1
Modified residuei387PhosphoserineCombined sources1
Modified residuei390PhosphothreonineCombined sources1
Modified residuei404Phosphoserine1 Publication1
Modified residuei406PhosphoserineCombined sources4 Publications1

Post-translational modificationi

Phosphorylation of Ser-406 of the pSXXF motif by ATM or ATR constitutes a specific recognition motif for the BRCT domain of BRCA1 (PubMed:17643121, PubMed:17525340, PubMed:17643122). Ionizing radiation promotes rapid phosphorylation at Ser-404 and Ser-406 by ATM; this promotes recruitment of BRCA1 to sites of DNA damage (PubMed:26778126).4 Publications

Keywords - PTMi

Phosphoprotein

Proteomic databases

EPDiQ6UWZ7
MaxQBiQ6UWZ7
PaxDbiQ6UWZ7
PeptideAtlasiQ6UWZ7
PRIDEiQ6UWZ7
ProteomicsDBi67539

PTM databases

iPTMnetiQ6UWZ7
PhosphoSitePlusiQ6UWZ7

Expressioni

Gene expression databases

BgeeiENSG00000163322 Expressed in 197 organ(s), highest expression level in amniotic fluid
CleanExiHS_FAM175A
ExpressionAtlasiQ6UWZ7 baseline and differential
GenevisibleiQ6UWZ7 HS

Organism-specific databases

HPAiHPA037654

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. In the complex, interacts directly with UIMC1/RAP80, BRCC3/BRCC36 and BABAM2. Interacts directly (when phosphorylated at Ser-406) with BRCA1. Homodimer. The homodimer interacts directly (when phosphorylated at Ser-404 and Ser-406) with two BRCA1 chains, giving rise to a heterotetramer. Binds polyubiquitin.9 Publications

Binary interactionsi

GO - Molecular functioni

Protein-protein interaction databases

BioGridi123911, 20 interactors
CORUMiQ6UWZ7
DIPiDIP-29615N
ELMiQ6UWZ7
IntActiQ6UWZ7, 9 interactors
STRINGi9606.ENSP00000369857

Structurei

3D structure databases

ProteinModelPortaliQ6UWZ7
SMRiQ6UWZ7
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini7 – 160MPNPROSITE-ProRule annotationAdd BLAST154

Coiled coil

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Coiled coili206 – 260Sequence analysisAdd BLAST55

Motif

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Motifi406 – 409pSXXF motifCurated4

Sequence similaritiesi

Belongs to the FAM175 family. Abraxas subfamily.Curated

Keywords - Domaini

Coiled coil

Phylogenomic databases

eggNOGiENOG410IG59 Eukaryota
ENOG4110D5E LUCA
GeneTreeiENSGT00530000063424
HOGENOMiHOG000112448
HOVERGENiHBG095943
InParanoidiQ6UWZ7
KOiK20774
OrthoDBiEOG091G07ID
PhylomeDBiQ6UWZ7
TreeFamiTF331751

Family and domain databases

InterProiView protein in InterPro
IPR023238 FAM175
IPR023239 FAM175_Abraxas1
IPR037518 MPN
PANTHERiPTHR31728 PTHR31728, 1 hit
PRINTSiPR02052 ABRAXAS
PR02051 PROTEINF175
PROSITEiView protein in PROSITE
PS50249 MPN, 1 hit

Sequences (2+)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 2 described isoforms and 7 potential isoforms that are computationally mapped.iShow all

Isoform 1 (identifier: Q6UWZ7-1) [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
MEGESTSAVL SGFVLGALAF QHLNTDSDTE GFLLGEVKGE AKNSITDSQM
60 70 80 90 100
DDVEVVYTID IQKYIPCYQL FSFYNSSGEV NEQALKKILS NVKKNVVGWY
110 120 130 140 150
KFRRHSDQIM TFRERLLHKN LQEHFSNQDL VFLLLTPSII TESCSTHRLE
160 170 180 190 200
HSLYKPQKGL FHRVPLVVAN LGMSEQLGYK TVSGSCMSTG FSRAVQTHSS
210 220 230 240 250
KFFEEDGSLK EVHKINEMYA SLQEELKSIC KKVEDSEQAV DKLVKDVNRL
260 270 280 290 300
KREIEKRRGA QIQAAREKNI QKDPQENIFL CQALRTFFPN SEFLHSCVMS
310 320 330 340 350
LKNRHVSKSS CNYNHHLDVV DNLTLMVEHT DIPEASPAST PQIIKHKALD
360 370 380 390 400
LDDRWQFKRS RLLDTQDKRS KADTGSSNQD KASKMSSPET DEEIEKMKGF

GEYSRSPTF
Length:409
Mass (Da):46,663
Last modified:February 20, 2007 - v2
Checksum:iA1ACA4F759BD1AEE
GO
Isoform 2 (identifier: Q6UWZ7-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-109: Missing.

Show »
Length:300
Mass (Da):34,447
Checksum:iA22EF29B4B0FCAFF
GO

Computationally mapped potential isoform sequencesi

There are 7 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
D6REL5D6REL5_HUMAN
BRCA1-A complex subunit Abraxas 1
ABRAXAS1
360Annotation score:
A0A087WWJ9A0A087WWJ9_HUMAN
BRCA1-A complex subunit Abraxas 1
ABRAXAS1
220Annotation score:
D6RHI5D6RHI5_HUMAN
BRCA1-A complex subunit Abraxas 1
ABRAXAS1
74Annotation score:
A0A087WZ78A0A087WZ78_HUMAN
BRCA1-A complex subunit Abraxas 1
ABRAXAS1
198Annotation score:
A0A087WXK1A0A087WXK1_HUMAN
BRCA1-A complex subunit Abraxas 1
ABRAXAS1
189Annotation score:
D6RAN3D6RAN3_HUMAN
BRCA1-A complex subunit Abraxas 1
ABRAXAS1
37Annotation score:
E9PHB9E9PHB9_HUMAN
BRCA1-A complex subunit Abraxas 1
ABRAXAS1
82Annotation score:

Sequence cautioni

The sequence AAH39573 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_030790239A → T. Corresponds to variant dbSNP:rs12642536Ensembl.1
Natural variantiVAR_054054348A → T Common polymorphism not associated with susceptibility to breast cancer. 3 PublicationsCorresponds to variant dbSNP:rs12642536Ensembl.1
Natural variantiVAR_071865361R → Q in BC; results in reduced DSB repair efficiency; primarily localizes to the cytoplasm and has reduced nuclear localization; does not affect interaction with BRCA1; results in highly reduced interaction with UIMC1/RAP80. 2 PublicationsCorresponds to variant dbSNP:rs201627097Ensembl.1
Natural variantiVAR_054055373D → N Common polymorphism not associated with susceptibility to breast cancer. 3 PublicationsCorresponds to variant dbSNP:rs13125836EnsemblClinVar.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0581961 – 109Missing in isoform 2. Add BLAST109

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AY358576 mRNA Translation: AAQ88939.1
EF531340 mRNA Translation: ABP87396.1
CH471057 Genomic DNA Translation: EAX05942.1
BC039573 mRNA Translation: AAH39573.1 Different initiation.
AK022704 mRNA Translation: BAB14189.1
AK023676 mRNA Translation: BAB14635.1
CCDSiCCDS3605.2 [Q6UWZ7-1]
RefSeqiNP_001332891.1, NM_001345962.1 [Q6UWZ7-2]
NP_620775.2, NM_139076.2 [Q6UWZ7-1]
UniGeneiHs.334772

Genome annotation databases

EnsembliENST00000321945; ENSP00000369857; ENSG00000163322 [Q6UWZ7-1]
GeneIDi84142
KEGGihsa:84142
UCSCiuc003hou.3 human [Q6UWZ7-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Entry informationi

Entry nameiABRX1_HUMAN
AccessioniPrimary (citable) accession number: Q6UWZ7
Secondary accession number(s): A5JJ07, Q9H8I1, Q9H9N4
Entry historyiIntegrated into UniProtKB/Swiss-Prot: February 20, 2007
Last sequence update: February 20, 2007
Last modified: September 12, 2018
This is version 120 of the entry and version 2 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

3D-structure, Complete proteome, Reference proteome
UniProt is an ELIXIR core data resource
Main funding by: National Institutes of Health

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