ABRAXAS1
entrez
84142
canonical
uniprot
Q6UWZ7
canonical
ensembl
ENSG00000163322
resolver
ensp
ENSP00000369857
resolver
genesymbol
ABRAXAS1
resolver
genesymbol_syn
ABRA1
resolver
genesymbol_syn
CCDC98
resolver
genesymbol_syn
FAM175A
resolver
hgnc
HGNC:25829
resolver
uniprot
A5JJ07
resolver
uniprot
Q9H8I1
resolver
uniprot
Q9H9N4
resolver
uniprot_entry
ABRX1_HUMAN
resolver
uniprot_sec
A5JJ07
resolver
uniprot_sec
Q9H8I1
resolver
uniprot_sec
Q9H9N4
resolver
amino_acid_sequence
MEGESTSAVLSGFVLGALAFQHLNTDSDTEGFLLGEVKGEAKNSITDSQMDDVEVVYTIDIQKYIPCYQLFSFYNSSGEVNEQALKKILSNVKKNVVGWYKFRRHSDQIMTFRERLLHKNLQEHFSNQDLVFLLLTPSIITESCSTHRLEHSLYKPQKGLFHRVPLVVANLGMSEQLGYKTVSGSCMSTGFSRAVQTHSSKFFEEDGSLKEVHKINEMYASLQEELKSICKKVEDSEQAVDKLVKDVNRLKREIEKRRGAQIQAAREKNIQKDPQENIFLCQALRTFFPNSEFLHSCVMSLKNRHVSKSSCNYNHHLDVVDNLTLMVEHTDIPEASPASTPQIIKHKALDLDDRWQFKRSRLLDTQDKRSKADTGSSNQDKASKMSSPETDEEIEKMKGFGEYSRSPTF
uniprot
proteins
disease_involvement
DISEASE: Breast cancer (BC) [MIM:114480]: A 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. {ECO:0000269|PubMed:22357538, ECO:0000269|PubMed:25105795}. Note=Disease susceptibility is associated with variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: 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. {ECO:0000269|PubMed:17525340, ECO:0000269|PubMed:17643121, ECO:0000269|PubMed:17643122, ECO:0000269|PubMed:18077395, ECO:0000269|PubMed:19261748, ECO:0000269|PubMed:22357538, ECO:0000269|PubMed:26778126}.
uniprot
proteins
mass_dalton
46663
uniprot
proteins
mutagenesis
MUTAGEN 400; /note="F->D: No effect on formation of a heterotetramer with BRCA1."; /evidence="ECO:0000269|PubMed:26778126"; MUTAGEN 402; /note="E->R: Decreases formation of a heterotetramer with BRCA1."; /evidence="ECO:0000269|PubMed:26778126"; MUTAGEN 403; /note="Y->A: No effect on formation of a heterotetramer with BRCA1."; /evidence="ECO:0000269|PubMed:26778126"; MUTAGEN 404; /note="S->A: No effect on homodimerization. Mildly decreased recruitment of BRCA1 to sites of DNA damage."; /evidence="ECO:0000269|PubMed:26778126"; MUTAGEN 404; /note="S->D: Permits formation of a heterotetramer with BRCA1."; /evidence="ECO:0000269|PubMed:26778126"; MUTAGEN 404; /note="S->P: Abolishes formation of a heterotetramer with BRCA1. Does not affect interaction with a first BRCA1 chain."; /evidence="ECO:0000269|PubMed:26778126"; MUTAGEN 406; /note="S->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."; /evidence="ECO:0000269|PubMed:17525340, ECO:0000269|PubMed:17643121, ECO:0000269|PubMed:17643122, ECO:0000269|PubMed:26778126
uniprot
proteins
post_translational_modification
PTM: Phosphorylation of Ser-406 of the pSXXF motif by ATM or ATR constitutes a specific recognition motif for the BRCT domain of BRCA1 (PubMed:17525340, PubMed:17643121, 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). {ECO:0000269|PubMed:17525340, ECO:0000269|PubMed:17643121, ECO:0000269|PubMed:17643122, ECO:0000269|PubMed:26778126}.
uniprot
proteins
protein_family
Abraxas subfamily
uniprot
proteins
protein_family
FAM175 family
uniprot
proteins
pubmed
12975309
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
17525340
uniprot
proteins
pubmed
17643121
uniprot
proteins
pubmed
17643122
uniprot
proteins
pubmed
18077395
uniprot
proteins
pubmed
18669648
uniprot
proteins
pubmed
18695986
uniprot
proteins
pubmed
19261746
uniprot
proteins
pubmed
19261748
uniprot
proteins
pubmed
19261749
uniprot
proteins
pubmed
19413330
uniprot
proteins
pubmed
19690332
uniprot
proteins
pubmed
20068231
uniprot
proteins
pubmed
21406692
uniprot
proteins
pubmed
22357538
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
24075985
uniprot
proteins
pubmed
24316840
uniprot
proteins
pubmed
25105795
uniprot
proteins
pubmed
26778126
uniprot
proteins
sequence_length
409
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:17525340, ECO:0000269|PubMed:17643121, ECO:0000269|PubMed:17643122}. Note=Localizes at sites of DNA damage at double-strand breaks (DSBs). {ECO:0000305}.
uniprot
proteins