Q9BV29 · CCD32_HUMAN
- ProteinCoiled-coil domain-containing protein 32
- GeneCCDC32
- StatusUniProtKB reviewed (Swiss-Prot)
- Organism
- Amino acids185 (go to sequence)
- Protein existenceEvidence at protein level
- Annotation score5/5
Function
function
Regulates clathrin-mediated endocytsois of cargos such as transferrin probably through the association and modulation of adaptor protein complex 2 (AP-2) (PubMed:33859415).
Has a role in ciliogenesis (By similarity).
Required for proper cephalic and left/right axis development (PubMed:32307552).
Has a role in ciliogenesis (By similarity).
Required for proper cephalic and left/right axis development (PubMed:32307552).
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 | clathrin-coated pit | |
Biological Process | cilium organization | |
Biological Process | head development | |
Biological Process | regulation of clathrin-dependent endocytosis |
Keywords
- Biological process
Enzyme and pathway databases
Names & Taxonomy
Protein names
- Recommended nameCoiled-coil domain-containing protein 32
Gene names
Organism names
- Organism
- Taxonomic lineageEukaryota > Metazoa > Chordata > Craniata > Vertebrata > Euteleostomi > Mammalia > Eutheria > Euarchontoglires > Primates > Haplorrhini > Catarrhini > Hominidae > Homo
Accessions
- Primary accessionQ9BV29
- Secondary accessions
Proteomes
Organism-specific databases
Subcellular Location
UniProt Annotation
GO Annotation
Membrane, coated pit ; Peripheral membrane protein
Keywords
- Cellular component
Disease & Variants
Involvement in disease
Cardiofacioneurodevelopmental syndrome (CFNDS)
- Note
- DescriptionAn autosomal recessive disorder characterized by global developmental delay, feeding difficulties, microcephaly and dysmorphic features. Additional features include cleft lip, cleft palate, variable cardiac defects, and abdominal situs inversus with asplenia. Brain imaging reveals cerebellar hypoplasia.
- See alsoMIM:619123
Features
Showing features for natural variant.
Type | ID | Position(s) | Description | |||
---|---|---|---|---|---|---|
Natural variant | VAR_034743 | 2 | in dbSNP:rs10152546 | |||
Sequence: K → I |
Variants
We now provide the "Disease & Variants" viewer in its own tab.
The viewer provides 210 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, modified residue (large scale data).
Type | ID | Position(s) | Source | Description | |||
---|---|---|---|---|---|---|---|
Chain | PRO_0000298937 | 1-185 | UniProt | Coiled-coil domain-containing protein 32 | |||
Sequence: MKMFESADSTATRSGQDLWAEICSCLPNPEQEDGANNAFSDSFVDSCPEGEGQREVADFAVQPAVKPWAPLQDSEVYLASLEKKLRRIKGLNQEVTSKDMLRTLAQAKKECWDRFLQEKLASEFFVDGLDSDESTLEHFKRWLQPDKVAVSTEEVQYLIPPESQVEKPVAEDEPAAGDKPAAAEQ | |||||||
Modified residue (large scale data) | 131 | PRIDE | Phosphoserine | ||||
Sequence: S |
Proteomic databases
PTM databases
Expression
Interaction
Subunit
Interacts with AP2S1; the interaction is direct and mediates association with adaptor protein complex 2 (AP-2).
Binary interactions
Type | Entry 1 | Entry 2 | Number of experiments | Intact | |
---|---|---|---|---|---|
BINARY | Q9BV29 | BDNF P23560-2 | 3 | EBI-2874058, EBI-12275524 | |
BINARY | Q9BV29 | GTPBP3 Q969Y2 | 3 | EBI-2874058, EBI-740290 | |
BINARY | Q9BV29 | HSP90AA1 P07900 | 3 | EBI-2874058, EBI-296047 | |
BINARY | Q9BV29 | POT1 Q9NUX5 | 2 | EBI-2874058, EBI-752420 |
Protein-protein interaction databases
Miscellaneous
Structure
Family & Domains
Features
Showing features for coiled coil, region, compositional bias.
Type | ID | Position(s) | Description | |||
---|---|---|---|---|---|---|
Coiled coil | 78-98 | |||||
Sequence: LASLEKKLRRIKGLNQEVTSK | ||||||
Region | 159-185 | Disordered | ||||
Sequence: IPPESQVEKPVAEDEPAAGDKPAAAEQ | ||||||
Compositional bias | 166-185 | Basic and acidic residues | ||||
Sequence: EKPVAEDEPAAGDKPAAAEQ |
Keywords
- Domain
Phylogenomic databases
Family and domain databases
Sequence & Isoforms
- Sequence statusComplete
This entry describes 3 isoforms produced by Alternative splicing.
Q9BV29-1
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
- Length185
- Mass (Da)20,656
- Last updated2004-03-01 v2
- Checksum3965B8A4FBC06651
Q9BV29-2
- Name2
- Differences from canonical
- 1-1: M → MRGSGLRFQM
Q9BV29-3
- Name3
Computationally mapped potential isoform sequences
There are 6 potential isoforms mapped to this entry
Sequence caution
Features
Showing features for alternative sequence, compositional bias.
Type | ID | Position(s) | Description | |||
---|---|---|---|---|---|---|
Alternative sequence | VSP_027485 | 1 | in isoform 2 | |||
Sequence: M → MRGSGLRFQM | ||||||
Alternative sequence | VSP_027486 | 134 | in isoform 3 | |||
Sequence: S → R | ||||||
Alternative sequence | VSP_027487 | 135-185 | in isoform 3 | |||
Sequence: Missing | ||||||
Compositional bias | 166-185 | Basic and acidic residues | ||||
Sequence: EKPVAEDEPAAGDKPAAAEQ |
Keywords
- Coding sequence diversity
- Technical term
Sequence databases
Nucleotide Sequence | Protein Sequence | Molecule Type | Status | |
---|---|---|---|---|
AK092214 EMBL· GenBank· DDBJ | BAC03831.1 EMBL· GenBank· DDBJ | mRNA | ||
AK098781 EMBL· GenBank· DDBJ | BAC05411.1 EMBL· GenBank· DDBJ | mRNA | ||
AK293079 EMBL· GenBank· DDBJ | BAF85768.1 EMBL· GenBank· DDBJ | mRNA | ||
AL832032 EMBL· GenBank· DDBJ | CAD89911.1 EMBL· GenBank· DDBJ | mRNA | Different initiation | |
CH471125 EMBL· GenBank· DDBJ | EAW92421.1 EMBL· GenBank· DDBJ | Genomic DNA | ||
BC001673 EMBL· GenBank· DDBJ | AAH01673.2 EMBL· GenBank· DDBJ | mRNA |