Q6P9F0 · CCD62_HUMAN
- ProteinCoiled-coil domain-containing protein 62
- GeneCCDC62
- StatusUniProtKB reviewed (Swiss-Prot)
- Organism
- Amino acids684 (go to sequence)
- Protein existenceEvidence at protein level
- Annotation score5/5
Function
function
Nuclear receptor coactivator that can enhance preferentially estrogen receptors ESR1 and ESR2 transactivation. Modulates also 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).
GO annotations
all annotations | all molecular function | virus receptor activity | dna binding | rna binding | cytoskeletal motor activity | catalytic activity | gtpase activity | structural molecule activity | transporter activity | cytoskeletal protein binding | lipid binding | cyclase activity | antioxidant activity | oxidoreductase activity | transferase activity | hydrolase activity | lyase activity | isomerase activity | ligase activity | protein tag activity | cargo receptor activity | histone binding | protein folding chaperone | translation regulator activity | nutrient reservoir activity | receptor ligand activity | molecular transducer activity | molecular adaptor activity | toxin activity | cell adhesion mediator activity | molecular function regulator activity | virus coreceptor activity | catalytic activity, acting on a protein | catalytic activity, acting on dna | catalytic activity, acting on rna | molecular carrier activity | transcription regulator activity | general transcription initiation factor activity | molecular sensor activity | molecular sequestering activity | atp-dependent activity | other molecular function | all biological process | mitotic cell cycle | cytokinesis | cytoplasmic translation | immune system process | muscle system process | circulatory system process | renal system process | respiratory system process | carbohydrate metabolic process | generation of precursor metabolites and energy | dna replication | dna repair | dna recombination | chromatin organization | dna-templated transcription | regulation of dna-templated transcription | trna metabolic process | protein folding | protein glycosylation | amino acid metabolic process | modified amino acid metabolic process | lipid metabolic process | vitamin metabolic process | sulfur compound metabolic process | intracellular protein transport | nucleocytoplasmic transport | autophagy | inflammatory response | mitochondrion organization | cytoskeleton organization | microtubule-based movement | peroxisome organization | lysosome organization | chromosome segregation | cell adhesion | establishment or maintenance of cell polarity | programmed cell death | photosynthesis | mrna metabolic process | snrna metabolic process | vesicle-mediated transport | reproductive process | digestive system process | signaling | cell differentiation | protein catabolic process | extracellular matrix organization | regulatory ncrna-mediated gene silencing | telomere organization | cell junction organization | wound healing | ribosome biogenesis | cilium organization | anatomical structure development | cell motility | nervous system process | endocrine process | protein maturation | transmembrane transport | nucleobase-containing small molecule metabolic process | hepaticobiliary system process | membrane organization | protein-containing complex assembly | cell wall organization or biogenesis | nitrogen cycle metabolic process | protein localization to plasma membrane | defense response to other organism | detoxification | meiotic nuclear division | mitotic nuclear division | mitochondrial gene expression | carbohydrate derivative metabolic process | other biological process | all cellular component | nuclear chromosome | extracellular region | extracellular space | cell wall | nucleus | nuclear envelope | nucleoplasm | chromosome | nucleolus | mitochondrion | lysosome | endosome | vacuole | peroxisome | endoplasmic reticulum | golgi apparatus | lipid droplet | microtubule organizing center | cytosol | ribosome | cytoskeleton | plasma membrane | cilium | plastid | thylakoid | external encapsulating structure | extracellular matrix | cytoplasmic vesicle | organelle | other cellular component | |||
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Aspect | Term | |
---|---|---|
Cellular Component | acrosomal vesicle | |
Cellular Component | nucleus | |
Molecular Function | nuclear estrogen receptor binding | |
Molecular Function | nuclear receptor coactivator activity | |
Biological Process | blastocyst hatching | |
Biological Process | cellular response to estradiol stimulus | |
Biological Process | positive regulation of transcription by RNA polymerase II | |
Biological Process | spermatid development |
Enzyme and pathway databases
Names & Taxonomy
Protein names
- Recommended nameCoiled-coil domain-containing protein 62
- Alternative names
Gene names
Organism names
- Organism
- Taxonomic lineageEukaryota > Metazoa > Chordata > Craniata > Vertebrata > Euteleostomi > Mammalia > Eutheria > Euarchontoglires > Primates > Haplorrhini > Catarrhini > Hominidae > Homo
Accessions
- Primary accessionQ6P9F0
- Secondary accessions
Proteomes
Organism-specific databases
Subcellular Location
UniProt Annotation
GO Annotation
Note: Mainly nuclear.
Keywords
- Cellular component
Disease & Variants
Involvement in disease
Spermatogenic failure 67 (SPGF67)
- Note
- DescriptionAn 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.
- See alsoMIM:619803
Natural variants in SPGF67
Variant ID | Position(s) | Change | Description | |
---|---|---|---|---|
VAR_086975 | 148-684 | missing | in SPGF67 | |
VAR_086976 | 283 | H>Y | in SPGF67; uncertain significance; dbSNP:rs139198472 |
Features
Showing features for natural variant, mutagenesis.
Type | ID | Position(s) | Description | |||
---|---|---|---|---|---|---|
Natural variant | VAR_035498 | 31 | in a colorectal cancer sample; somatic mutation | |||
Sequence: Q → E | ||||||
Natural variant | VAR_061585 | 141 | in dbSNP:rs58131754 | |||
Sequence: T → M | ||||||
Natural variant | VAR_086975 | 148-684 | in SPGF67 | |||
Sequence: Missing | ||||||
Natural variant | VAR_086976 | 283 | in SPGF67; uncertain significance; dbSNP:rs139198472 | |||
Sequence: H → Y | ||||||
Natural variant | VAR_026715 | 394 | in dbSNP:rs17855031 | |||
Sequence: T → K | ||||||
Mutagenesis | 637-638 | Abrogates interaction with ESR1 and ESR2. | ||||
Sequence: LL → AA | ||||||
Mutagenesis | 653-654 | No effect on interaction with ESR1 or ESR2. | ||||
Sequence: LL → AA |
Variants
We now provide the "Disease & Variants" viewer in its own tab.
The viewer provides 697 variants from UniProt as well as other sources including ClinVar and dbSNP.
Keywords
- Disease
Organism-specific databases
Miscellaneous
Genetic variation databases
PTM/Processing
Features
Showing features for chain.
Type | ID | Position(s) | Description | |||
---|---|---|---|---|---|---|
Chain | PRO_0000240247 | 1-684 | Coiled-coil domain-containing protein 62 | |||
Sequence: MNPPAAFLAGRQNIGSEVEISTIEKQRKELQLLIGELKDRDKELNDMVAVHQQQLLSWEEDRQKVLTLEERCSKLEGELHKRTEIIRSLTKKVKALESNQMECQTALQKTQLQLQEMAQKATHSSLLSEDLEARNETLSNTLVELSAQVGQLQAREQALTTMIKLKDKDIIEAVNHIADCSGKFKMLEHALRDAKMAETCIVKEKQDYKQKLKALKIEVNKLKEDLNEKTTENNEQREEIIRLKQEKSCLHDELLFTVEREKRKDELLNIAKSKQERTNSELHNLRQIYVKQQSDLQFLNFNVENSQELIQMYDSKMEESKALDSSRDMCLSDLENNHPKVDIKREKNQKSLFKDQKFEAMLVQQNRSDKSSCDECKEKKQQIDTVFGEKSVITLSSIFTKDLVEKHNLPWSLGGKTQIEPENKITLCKIHTKSPKCHGTGVQNEGKQPSETPTLSDEKQWHDVSVYLGLTNCPSSKHPEKLDVECQDQMERSEISCCQKNEACLGESGMCDSKCCHPSNFIIEAPGHMSDVEWMSIFKPSKMQRIVRLKSGCTCSESICGTQHDSPASELIAIQDSHSLGSSKSALREDETESSSNKKNSPTSLLIYKDAPAFNEKASIVLPSQDDFSPTSKLQRLLAESRQMVTDLELSTLLPISHENLTGSATNKSEVPEESAQKNTFVSY |
Proteomic databases
PTM databases
Expression
Tissue specificity
Highly expressed in adult testis. Expressed in both prostate epithelial and stromal cells, with predominant expression in epithelial cells (at protein level) (PubMed:19126643).
Not detected in prostate by RT-PCR (PubMed:19165854).
Overexpressed in various cancers
Not detected in prostate by RT-PCR (PubMed:19165854).
Overexpressed in various cancers
Gene expression databases
Organism-specific databases
Interaction
Subunit
Interacts with ESR1 and ESR2 in the presence of estradiol/E2. The interaction with ESR2 recruits CCDC62 to ER target genes, including cyclin-D1/CCND1 AP-1 promoter. Interacts with GOPC (By similarity).
Binary interactions
Type | Entry 1 | Entry 2 | Number of experiments | Intact | |
---|---|---|---|---|---|
BINARY | Q6P9F0 | ESR2 Q92731-1 | 6 | EBI-11176612, EBI-11176604 |
Protein-protein interaction databases
Miscellaneous
Structure
Family & Domains
Features
Showing features for coiled coil, region, motif.
Type | ID | Position(s) | Description | |||
---|---|---|---|---|---|---|
Coiled coil | 11-160 | |||||
Sequence: RQNIGSEVEISTIEKQRKELQLLIGELKDRDKELNDMVAVHQQQLLSWEEDRQKVLTLEERCSKLEGELHKRTEIIRSLTKKVKALESNQMECQTALQKTQLQLQEMAQKATHSSLLSEDLEARNETLSNTLVELSAQVGQLQAREQALT | ||||||
Coiled coil | 199-322 | |||||
Sequence: TCIVKEKQDYKQKLKALKIEVNKLKEDLNEKTTENNEQREEIIRLKQEKSCLHDELLFTVEREKRKDELLNIAKSKQERTNSELHNLRQIYVKQQSDLQFLNFNVENSQELIQMYDSKMEESKA | ||||||
Region | 579-603 | Disordered | ||||
Sequence: SLGSSKSALREDETESSSNKKNSPT | ||||||
Motif | 634-638 | LXXLL motif 1 | ||||
Sequence: LQRLL | ||||||
Motif | 650-654 | LXXLL motif 2 | ||||
Sequence: LSTLL | ||||||
Region | 657-684 | Disordered | ||||
Sequence: SHENLTGSATNKSEVPEESAQKNTFVSY |
Domain
Contains 2 Leu-Xaa-Xaa-Leu-Leu (LXXLL) motifs. The first one is essential for the association with ESR1 and ESR2.
Keywords
- Domain
Phylogenomic databases
Family and domain databases
Sequence & Isoforms
- Sequence statusComplete
This entry describes 3 isoforms produced by Alternative splicing.
Q6P9F0-1
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.
- Name1
- Length684
- Mass (Da)77,748
- Last updated2006-06-13 v2
- Checksum071DCEC789E4DF60
Q6P9F0-2
- Name2
- Differences from canonical
- 668-684: KSEVPEESAQKNTFVSY → ISHLCGRQKADTNTE
Q6P9F0-3
- Name3
Computationally mapped potential isoform sequences
There are 2 potential isoforms mapped to this entry
Entry | Entry name | Gene name | Length | ||
---|---|---|---|---|---|
A0A024RBT8 | A0A024RBT8_HUMAN | CCDC62 | 497 | ||
F5H0F1 | F5H0F1_HUMAN | CCDC62 | 64 |
Sequence caution
Features
Showing features for alternative sequence, sequence conflict.
Type | ID | Position(s) | Description | |||
---|---|---|---|---|---|---|
Alternative sequence | VSP_019327 | 1-239 | in isoform 3 | |||
Sequence: Missing | ||||||
Alternative sequence | VSP_019328 | 240-257 | in isoform 3 | |||
Sequence: IIRLKQEKSCLHDELLFT → MPNSSPKDPTTASGNGSK | ||||||
Sequence conflict | 486 | in Ref. 2; BAF85155 | ||||
Sequence: C → R | ||||||
Sequence conflict | 651 | in Ref. 4; AAG49396 | ||||
Sequence: S → N | ||||||
Alternative sequence | VSP_019329 | 668-684 | in isoform 2 | |||
Sequence: KSEVPEESAQKNTFVSY → ISHLCGRQKADTNTE |
Keywords
- Coding sequence diversity
- Technical term
Sequence databases
Nucleotide Sequence | Protein Sequence | Molecule Type | Status | |
---|---|---|---|---|
AY254201 EMBL· GenBank· DDBJ | AAP13075.1 EMBL· GenBank· DDBJ | mRNA | ||
AK097663 EMBL· GenBank· DDBJ | BAG53505.1 EMBL· GenBank· DDBJ | mRNA | ||
AK124633 EMBL· GenBank· DDBJ | BAC85909.1 EMBL· GenBank· DDBJ | mRNA | ||
AK292466 EMBL· GenBank· DDBJ | BAF85155.1 EMBL· GenBank· DDBJ | mRNA | ||
BC060796 EMBL· GenBank· DDBJ | AAH60796.1 EMBL· GenBank· DDBJ | mRNA | ||
AY009105 EMBL· GenBank· DDBJ | AAG49396.1 EMBL· GenBank· DDBJ | mRNA | Different initiation |