GCNA
entrez
93953
canonical
uniprot
Q96QF7
canonical
ensembl
ENSG00000147174
resolver
ensp
ENSP00000362799
resolver
ensp
ENSP00000362800
resolver
ensp
ENSP00000587989
resolver
enst
ENST00000373695
resolver
enst
ENST00000373696
resolver
enst
ENST00000917930
resolver
genesymbol
GCNA
resolver
genesymbol_syn
ACRC
resolver
hgnc
HGNC:15805
resolver
uniprot
B9EG62
resolver
uniprot_entry
GCNA_HUMAN
resolver
uniprot_sec
B9EG62
resolver
amino_acid_sequence
MDGCKKELPRLQEPEEDEDCYILNVQSSSDDTSGSSVARRAPKRQASCILNVQSRSGDTSGSSVARRAPKRQASSVVVIDSDSDEECHTHEEKKAKLLEINSDDESPECCHVKPAIQEPPIVISDDDNDDDNGNDLEVPDDNSDDSEAPDDNSDDSEAPDDNSDDSEAPDDNSDDSEAPDDNSDDSDVPDDNSDDSSDDNSDDSSDDNSDDSDVPDDKSDDSDVPDDSSDDSDVPDDSSDDSEAPDDSSDDSEAPDDSSDDSEAPDDSSDDSEAPDDSSDDSEASDDSSDDSEASDDSSDDSEAPDDKSDDSDVPEDKSDDSDVPDDNSDDLEVPVPAEDLCNEGQIASDEEELVEAAAAVSQHDSSDDAGEQDLGENLSKPPSDPEANPEVSERKLPTEEEPAPVVEQSGKRKSKTKTIVEPPRKRQTKTKNIVEPPRKRQTKTKNIVEPLRKRKAKTKNVSVTPGHKKRGPSKKKPGAAKVEKRKTRTPKCKVPGCFLQDLEKSKKYSGKNLKRNKDELVQRIYDLFNRSVCDKKLPEKLRIGWNNKMVKTAGLCSTGEMWYPKWRRFAKIQIGLKVCDSADRIRDTLIHEMCHAASWLIDGIHDSHGDAWKYYARKSNRIHPELPRVTRCHNYKINYKVHYECTGCKTRIGCYTKSLDTSRFICAKCKGSLVMVPLTQKDGTRIVPHV
uniprot
proteins
disease_involvement
DISEASE: Spermatogenic failure, X-linked, 4 (SPGFX4) [MIM:301077]: A male infertility disorder characterized by non-obstructive azoospermia or oligoasthenoteratozoospermia. Some patients present spermatogenic maturation arrest with an almost complete absence of early and late primary spermatocytes. {ECO:0000269|PubMed:33963445, ECO:0000269|PubMed:34413498}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: May play a role in DNA-protein cross-links (DPCs) clearance through a SUMO-dependent recruitment to sites of DPCs, ensuring the genomic stability by protecting germ cells and early embryos from various sources of damage (PubMed:30914427). Can resolve the topoisomerase II (TOP2A) DPCs (By similarity). {ECO:0000250|UniProtKB:A0A1D9BZF0, ECO:0000269|PubMed:30914427}.
uniprot
proteins
mass_dalton
76112
uniprot
proteins
mutagenesis
MUTAGEN 22..25; /note="ILNV->AAAA: Impairs SUMO2 interaction. Loss of SUMO2 interaction; when associated with 76-A--A-79, 97-A--A-100 and 121-A--A-124. Loss of SUMO2-dependent recruitment to DNA-protein cross-links (DPCs); when associated with 76-A--A-79; 97-A--A-100 and 121-A--A-124."; /evidence="ECO:0000269|PubMed:30914427"; MUTAGEN 76..79; /note="VVVI->AAAA: Impairs SUMO2 interaction. Loss of SUMO2 interaction; when associated with 22-A--A-25, 97-A--A-100 and 121-A--A-124. Loss of SUMO2-dependent recruitment to DNA-protein cross-links (DPCs); when associated with 22-A--A-25; 97-A--A-100 and 121-A--A-124."; /evidence="ECO:0000269|PubMed:30914427"; MUTAGEN 97..100; /note="LLEI->AAAA: Impairs SUMO2 interaction. Loss of SUMO2 interaction; when associated with 22-A--A-25, 76-A--A-79 and 121-A--A-124. Loss of SUMO2-dependent recruitment to DNA-protein cross-links (DPCs); when associated with 22-A--A-25; 76-A--A-79 and 121-A--A-124."; /evidence="ECO:0000269|PubMed:30914427"; MUTAGEN 121..124; /note="IVIS->AAAA: Impairs SUMO2 interaction. Loss of SUMO2 interaction; when associated with 22-A--A-25, 76-A--A-79 and 97-A--A-100. Loss of SUMO2-dependent recruitment to DNA-protein cross-links (DPCs); when associated with 22-A--A-25; 76-A--A-79 and 97-A--A-100."; /evidence="ECO:0000269|PubMed:30914427
uniprot
proteins
protein_family
Serine-aspartate repeat-containing protein (SDr) family
uniprot
proteins
pubmed
11714101
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
27718356
uniprot
proteins
pubmed
30914427
uniprot
proteins
pubmed
33963445
uniprot
proteins
pubmed
34413498
uniprot
proteins
sequence_length
691
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:27718356, ECO:0000305|PubMed:11714101}. Nucleus, PML body {ECO:0000269|PubMed:30914427}. Chromosome {ECO:0000250|UniProtKB:A0A1D9BZF0}. Note=Co-localizes with SUMO2 at PML bodies in all interphase cells (PubMed:30914427). Localizes on condensed chromosomes in spermatocytes in G2 and M during meiotic prophase (By similarity). {ECO:0000250|UniProtKB:A0A1D9BZF0, ECO:0000269|PubMed:30914427}.
uniprot
proteins