SPIDR
entrez
23514
canonical
uniprot
Q14159
canonical
ensembl
ENSG00000164808
resolver
ensp
ENSP00000297423
resolver
ensp
ENSP00000427889
resolver
ensp
ENSP00000429193
resolver
ensp
ENSP00000429487
resolver
ensp
ENSP00000444061
resolver
ensp
ENSP00000549736
resolver
ensp
ENSP00000677652
resolver
ensp
ENSP00000677653
resolver
ensp
ENSP00000677654
resolver
ensp
ENSP00000696595
resolver
ensp
ENSP00000696597
resolver
ensp
ENSP00000696610
resolver
ensp
ENSP00000786750
resolver
enst
ENST00000517693
resolver
genesymbol
SPIDR
resolver
genesymbol_syn
KIAA0146
resolver
hgnc
HGNC:28971
resolver
uniprot
B3KP42
resolver
uniprot
B4DFV2
resolver
uniprot
B4DWT8
resolver
uniprot
B4E0Y6
resolver
uniprot
F6TK88
resolver
uniprot
Q96BI5
resolver
uniprot_entry
B3KP42_HUMAN
resolver
uniprot_entry
B4DWT8_HUMAN
resolver
uniprot_entry
F6TK88_HUMAN
resolver
uniprot_entry
SPIDR_HUMAN
resolver
uniprot_sec
B4DFV2
resolver
uniprot_sec
B4E0Y6
resolver
uniprot_sec
Q96BI5
resolver
amino_acid_sequence
MPRGSRARGSKRKRSWNTECPSFPGERPLQVRRAGLRTAGAAASLSEAWLRCGEGFQNTSGNPSLTAEEKTITEKHLELCPRPKQETTTSKSTSGLTDITWSSSGSDLSDEDKTLSQLQRDELQFIDWEIDSDRAEASDCDEFEDDEGAVEISDCASCASNQSLTSDEKLSELPKPSSIEILEYSSDSEKEDDLENVLLIDSESPHKYHVQFASDARQIMERLIDPRTKSTETILHTPQKPTAKFPRTPENSAKKKLLRGGLAERLNGLQNRERSAISLWRHQCISYQKTLSGRKSGVLTVKILELHEECAMQVAMCEQLLGSPATSSSQSVAPRPGAGLKVLFTKETAGYLRGRPQDTVRIFPPWQKLIIPSGSCPVILNTYFCEKVVAKEDSEKTCEVYCPDIPLPRRSISLAQMFVIKGLTNNSPEIQVVCSGVATTGTAWTHGHKEAKQRIPTSTPLRDSLLDVVESQGAASWPGAGVRVVVQRVYSLPSRDSTRGQQGASSGHTDPAGTRACLLVQDACGMFGEVHLEFTMSKARQLEGKSCSLVGMKVLQKVTRGRTAGIFSLIDTLWPPAIPLKTPGRDQPCEEIKTHLPPPALCYILTAHPNLGQIDIIDEDPIYKLYQPPVTRCLRDILQMNDLGTRCSFYATVIYQKPQLKSLLLLEQREIWLLVTDVTLQTKEERDPRLPKTLLVYVAPLCVLGSEVLEALAGAAPHSLFFKDALRDQGRIVCAERTVLLLQKPLLSVVSGASSCELPGPVMLDSLDSATPVNSICSVQGTVVGVDESTAFSWPVCDMCGNGRLEQRPEDRGAFSCGDCSRVVTSPVLKRHLQVFLDCRSRPQCRVKVKLLQRSISSLLRFAAGEDGSYEVKSVLGKEVGLLNCFVQSVTAHPTSCIGLEEIELLSAGGASAEH
uniprot
proteins
disease_involvement
DISEASE: Ovarian dysgenesis 9 (ODG9) [MIM:619665]: An autosomal recessive form of ovarian dysgenesis, a disorder characterized by lack of spontaneous pubertal development, primary amenorrhea, uterine hypoplasia, and hypergonadotropic hypogonadism as a result of streak gonads. {ECO:0000269|PubMed:27967308, ECO:0000269|PubMed:34697795}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Involved in early stages DNA double-strand break (DSB) repair via homologous recombination (HR) (PubMed:23509288, PubMed:23754376, PubMed:34253720, PubMed:39169038). As part of the Shu complex, promotes HR by regulating replication protein-A (RPA) dynamics on single-stranded DNA, thereby stabilizing RAD51 and DMC1 filaments on DNA (PubMed:34253720, PubMed:39169038). The Shu complex is essential during meiosis by stabilizing DMC1 filaments (PubMed:27967308, PubMed:34697795). In contrast, it is critical for only certain types of homologous-directed DNA repair, such as inter-homolog homologous recombination (IR-HR) (PubMed:34253720). IR-HR is a DNA repair mechanism where a cell repairs a DSB on one chromosome using the matching homologous chromosome as a template, rather than the sister chromatid (PubMed:34253720). {ECO:0000269|PubMed:23509288, ECO:0000269|PubMed:23754376, ECO:0000269|PubMed:27967308, ECO:0000269|PubMed:34253720, ECO:0000269|PubMed:34697795, ECO:0000269|PubMed:39169038}.
uniprot
proteins
mass_dalton
100316
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15502879
uniprot
proteins
pubmed
15858003
uniprot
proteins
pubmed
16421571
uniprot
proteins
pubmed
23509288
uniprot
proteins
pubmed
23754376
uniprot
proteins
pubmed
27967308
uniprot
proteins
pubmed
34253720
uniprot
proteins
pubmed
34697795
uniprot
proteins
pubmed
39169038
uniprot
proteins
pubmed
8590280
uniprot
proteins
sequence_length
915
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Chromosome {ECO:0000269|PubMed:23509288}. Nucleus {ECO:0000269|PubMed:23509288}. Note=Together with BLM, is redistributed in discrete nuclear DNA damage-induced foci following hydroxyurea (HU) or camptothecin (CPT) treatment. {ECO:0000269|PubMed:23509288}.
uniprot
proteins