Q9H6E4 · CC134_HUMAN
- ProteinCoiled-coil domain-containing protein 134
- GeneCCDC134
- StatusUniProtKB reviewed (Swiss-Prot)
- Organism
- Amino acids229 (go to sequence)
- Protein existenceEvidence at protein level
- Annotation score5/5
Function
function
In extracellular secreted form, promotes proliferation and activation of CD8+ T cells, suggesting a cytokine-like function (PubMed:25125657).
Enhances cytotoxic anti-tumor activity of CD8+ T cells (PubMed:25125657).
May inhibit ERK and JNK signaling activity (PubMed:18087676, PubMed:23070808).
May suppress cell migration and invasion activity, via its effects on ERK and JNK signaling (PubMed:23070808).
Has a critical role in the regulation of osteogenesis and bone development (PubMed:32181939).
Enhances cytotoxic anti-tumor activity of CD8+ T cells (PubMed:25125657).
May inhibit ERK and JNK signaling activity (PubMed:18087676, PubMed:23070808).
May suppress cell migration and invasion activity, via its effects on ERK and JNK signaling (PubMed:23070808).
Has a critical role in the regulation of osteogenesis and bone development (PubMed:32181939).
In the nucleus, enhances stability of the PCAF histone acetyltransferase (HAT) complex member TADA2A and thus promotes PCAF-mediated H3K14 and H4K8 HAT activity. May inhibit TADA2A-mediated TP53/p53 'Lys-321' acetylation, leading to reduced TP53 stability and transcriptional activity. May also promote TADA2A-mediated XRCC6 acetylation thus facilitating cell apoptosis in response to DNA damage.
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 | cytosol | |
Cellular Component | endoplasmic reticulum | |
Cellular Component | extracellular region | |
Cellular Component | intracellular membrane-bounded organelle | |
Cellular Component | membrane | |
Cellular Component | nucleus | |
Biological Process | angiogenesis | |
Biological Process | embryonic hemopoiesis | |
Biological Process | embryonic liver development | |
Biological Process | placenta development | |
Biological Process | regulation of ossification | |
Biological Process | ventricular system development |
Enzyme and pathway databases
Names & Taxonomy
Protein names
- Recommended nameCoiled-coil domain-containing protein 134
Gene names
Organism names
- Organism
- Taxonomic lineageEukaryota > Metazoa > Chordata > Craniata > Vertebrata > Euteleostomi > Mammalia > Eutheria > Euarchontoglires > Primates > Haplorrhini > Catarrhini > Hominidae > Homo
Accessions
- Primary accessionQ9H6E4
Proteomes
Organism-specific databases
Subcellular Location
UniProt Annotation
GO Annotation
Note: Accumulates in the nucleus in response to UV irradiation (PubMed:22644376).
Keywords
- Cellular component
Disease & Variants
Involvement in disease
Osteogenesis imperfecta 22 (OI22)
- Note
- DescriptionAn autosomal recessive form of osteogenesis imperfecta, a disorder of bone formation characterized by low bone mass, bone fragility and susceptibility to fractures after minimal trauma. Disease severity ranges from very mild forms without fractures to intrauterine fractures and perinatal lethality. Extraskeletal manifestations, which affect a variable number of patients, are dentinogenesis imperfecta, hearing loss, and blue sclerae. OI22 is a severe form of the disease.
- See alsoMIM:619795
Variants
We now provide the "Disease & Variants" viewer in its own tab.
The viewer provides 258 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 signal, chain.
Type | ID | Position(s) | Description | |||
---|---|---|---|---|---|---|
Signal | 1-22 | |||||
Sequence: MDLLQFLAFLFVLLLSGMGATG | ||||||
Chain | PRO_0000254109 | 23-229 | Coiled-coil domain-containing protein 134 | |||
Sequence: TLRTSLDPSLEIYKKMFEVKRREQLLALKNLAQLNDIHQQYKILDVMLKGLFKVLEDSRTVLTAADVLPDGPFPQDEKLKDAFSHVVENTAFFGDVVLRFPRIVHYYFDHNSNWNLLIRWGISFCNQTGVFNQGPHSPILSLMAQELGISEKDSNFQNPFKIDRTEFIPSTDPFQKALREEEKRRKKEEKRKEIRKGPRISRSQSEL |
Post-translational modification
O-glycosylated, with additional sialic acid modifications.
Proteomic databases
PTM databases
Expression
Tissue specificity
Expressed in cervical gland, cervical squamous epithelium, endometrium, stomach, kidney distal convoluted tubule, spermatogenic cells in testis, mammary gland, liver and striated muscle (at protein level) (PubMed:18087676, PubMed:23070808).
Also detected in placenta (PubMed:18087676).
Highest expression in testis relative to other tissues (PubMed:18087676).
Detected in T cells and dendritic cells; highly expressed in activated CD8+ T cells, and also expressed at lower levels in CD4+ T cells (PubMed:25125657).
Also detected in placenta (PubMed:18087676).
Highest expression in testis relative to other tissues (PubMed:18087676).
Detected in T cells and dendritic cells; highly expressed in activated CD8+ T cells, and also expressed at lower levels in CD4+ T cells (PubMed:25125657).
Gene expression databases
Organism-specific databases
Interaction
Subunit
Interacts with TADA2A. Associates with the PCAF complex via TADA2A binding.
Binary interactions
Type | Entry 1 | Entry 2 | Number of experiments | Intact | |
---|---|---|---|---|---|
BINARY | Q9H6E4 | PGRMC1 O00264 | 3 | EBI-953766, EBI-1045534 | |
BINARY | Q9H6E4 | PTPRN Q16849-3 | 3 | EBI-953766, EBI-10200782 | |
BINARY | Q9H6E4 | TADA2A O75478 | 6 | EBI-953766, EBI-742268 |
Protein-protein interaction databases
Miscellaneous
Structure
Family & Domains
Features
Showing features for region, coiled coil, compositional bias, motif.
Type | ID | Position(s) | Description | |||
---|---|---|---|---|---|---|
Region | 193-229 | Disordered | ||||
Sequence: TDPFQKALREEEKRRKKEEKRKEIRKGPRISRSQSEL | ||||||
Coiled coil | 196-218 | |||||
Sequence: FQKALREEEKRRKKEEKRKEIRK | ||||||
Compositional bias | 197-229 | Basic and acidic residues | ||||
Sequence: QKALREEEKRRKKEEKRKEIRKGPRISRSQSEL | ||||||
Motif | 206-213 | Nuclear localization signal | ||||
Sequence: RRKKEEKR |
Sequence similarities
Belongs to the CCDC134 family.
Keywords
- Domain
Phylogenomic databases
Family and domain databases
Sequence
- Sequence statusComplete
- Sequence processingThe displayed sequence is further processed into a mature form.
- Length229
- Mass (Da)26,561
- Last updated2001-03-01 v1
- ChecksumF14C6797854B0598
Computationally mapped potential isoform sequences
There is 1 potential isoform mapped to this entry
Entry | Entry name | Gene name | Length | ||
---|---|---|---|---|---|
B0QY51 | B0QY51_HUMAN | CCDC134 | 116 |
Features
Showing features for compositional bias.
Type | ID | Position(s) | Description | |||
---|---|---|---|---|---|---|
Compositional bias | 197-229 | Basic and acidic residues | ||||
Sequence: QKALREEEKRRKKEEKRKEIRKGPRISRSQSEL |
Keywords
- Technical term
Sequence databases
Nucleotide Sequence | Protein Sequence | Molecule Type | Status | |
---|---|---|---|---|
CR456484 EMBL· GenBank· DDBJ | CAG30370.1 EMBL· GenBank· DDBJ | mRNA | ||
AK026002 EMBL· GenBank· DDBJ | BAB15315.1 EMBL· GenBank· DDBJ | mRNA | ||
AL021453 EMBL· GenBank· DDBJ | - | Genomic DNA | No translation available. | |
BC017693 EMBL· GenBank· DDBJ | AAH17693.1 EMBL· GenBank· DDBJ | mRNA |