CCDC62
entrez
84660
canonical
uniprot
Q6P9F0
canonical
ensembl
ENSG00000130783
resolver
ensp
ENSP00000253079
resolver
ensp
ENSP00000376236
resolver
genesymbol
CCDC62
resolver
hgnc
HGNC:30723
resolver
uniprot
A8K8V1
resolver
uniprot
B3KUP3
resolver
uniprot
Q6ZVF2
resolver
uniprot
Q86VJ0
resolver
uniprot
Q9BYZ5
resolver
uniprot_entry
CCD62_HUMAN
resolver
uniprot_sec
A8K8V1
resolver
uniprot_sec
B3KUP3
resolver
uniprot_sec
Q6ZVF2
resolver
uniprot_sec
Q86VJ0
resolver
uniprot_sec
Q9BYZ5
resolver
amino_acid_sequence
MNPPAAFLAGRQNIGSEVEISTIEKQRKELQLLIGELKDRDKELNDMVAVHQQQLLSWEEDRQKVLTLEERCSKLEGELHKRTEIIRSLTKKVKALESNQMECQTALQKTQLQLQEMAQKATHSSLLSEDLEARNETLSNTLVELSAQVGQLQAREQALTTMIKLKDKDIIEAVNHIADCSGKFKMLEHALRDAKMAETCIVKEKQDYKQKLKALKIEVNKLKEDLNEKTTENNEQREEIIRLKQEKSCLHDELLFTVEREKRKDELLNIAKSKQERTNSELHNLRQIYVKQQSDLQFLNFNVENSQELIQMYDSKMEESKALDSSRDMCLSDLENNHPKVDIKREKNQKSLFKDQKFEAMLVQQNRSDKSSCDECKEKKQQIDTVFGEKSVITLSSIFTKDLVEKHNLPWSLGGKTQIEPENKITLCKIHTKSPKCHGTGVQNEGKQPSETPTLSDEKQWHDVSVYLGLTNCPSSKHPEKLDVECQDQMERSEISCCQKNEACLGESGMCDSKCCHPSNFIIEAPGHMSDVEWMSIFKPSKMQRIVRLKSGCTCSESICGTQHDSPASELIAIQDSHSLGSSKSALREDETESSSNKKNSPTSLLIYKDAPAFNEKASIVLPSQDDFSPTSKLQRLLAESRQMVTDLELSTLLPISHENLTGSATNKSEVPEESAQKNTFVSY
uniprot
proteins
disease_involvement
DISEASE: Spermatogenic failure 67 (SPGF67) [MIM:619803]: An autosomal recessive male infertility disorder characterized by globozoospermia. Affected individuals have a normal sperm count, but spermatozoa are round-headed and lack the acrosome. In addition to pure globozoospermia, some patients have a mixture of acrosomeless spermatozoa and spermatozoa with small or detached acrosomes, which is defined as acrosomal hypoplasia. {ECO:0000269|PubMed:31985809}. Note=The disease may be caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Nuclear receptor coactivator that can enhance preferentially estrogen receptors ESR1 and ESR2 transactivation. Also modulates progesterone/PGR, glucocorticoid/NR3C1 and androgen/AR receptors transactivation, although at lower level; little effect on vitamin D receptor/VDR. Required for normal spermiogenesis. It probably plays a role in acrosome formation (By similarity). {ECO:0000250|UniProtKB:E9PVD1, ECO:0000269|PubMed:19126643}.
uniprot
proteins
mass_dalton
77748
uniprot
proteins
mutagenesis
MUTAGEN 637..638; /note="LL->AA: Abrogates interaction with ESR1 and ESR2."; /evidence="ECO:0000269|PubMed:18563714, ECO:0000269|PubMed:19126643"; MUTAGEN 653..654; /note="LL->AA: No effect on interaction with ESR1 or ESR2."; /evidence="ECO:0000269|PubMed:18563714, ECO:0000269|PubMed:19126643
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16959974
uniprot
proteins
pubmed
18563714
uniprot
proteins
pubmed
19126643
uniprot
proteins
pubmed
19165854
uniprot
proteins
pubmed
28339613
uniprot
proteins
pubmed
31985809
uniprot
proteins
sequence_length
684
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:19126643}. Nucleus {ECO:0000269|PubMed:19126643}. Cytoplasmic vesicle, secretory vesicle, acrosome {ECO:0000269|PubMed:28339613}. Note=Mainly nuclear.
uniprot
proteins