BTBD8 (BTB domain containing 8)

Gene Gene information from NCBI Gene database.
Gene Gene ontology Other IDs Protein
Entrez ID 284697
Gene name BTB domain containing 8
Gene symbol BTBD8
Synonyms (NCBI Gene)
KIAA1107
Chromosome 1
Chromosome location 1p22.1
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
15
Gene Gene ontology Other IDs Protein
Show/Hide all (15)
GO ID Ontology Definition Evidence Reference
GO:0005634 Component Nucleus IDA 14654994
GO:0005634 Component Nucleus IEA
GO:0005654 Component Nucleoplasm IDA
GO:0008021 Component Synaptic vesicle IEA
GO:0016182 Process Synaptic vesicle budding from endosome IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene Gene ontology Other IDs Protein
MIM HGNC e!Ensembl
617945 21019 ENSG00000189195
Protein Protein information from UniProt database.
Gene Gene ontology Other IDs Protein
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q5XKL5
Protein name BTB/POZ domain-containing protein 8 (AP2-interacting clathrin-endocytosis) (APache)
Protein function Involved in clathrin-mediated endocytosis at the synapse. Plays a role in neuronal development and in synaptic vesicle recycling in mature neurons, a process required for normal synaptic transmission.
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00651 BTB 48 → 141 BTB/POZ domain Domain
PF00651 BTB 197 → 304 BTB/POZ domain Domain
Tissue specificity TISSUE SPECIFICITY: Highly expressed in fetal brain. Weakly expressed in adult brain and prostate. {ECO:0000269|PubMed:14654994}.
Sequence 
MARCGEGSAAPMVLLGSAGVCSKGLQRKGPCERRRLKATVSEQLSQDLLRLLREEFHTDV
TFSVGCTLFKAHKAVLLARVPDFYFHTIGQTSNSLTNQEPIAVENVEALEFRTFLQIIYS
SNRNIKNYEEEILRKKIMEIGISQKQLDISFPKCENSSDCSLQKHEIPEDISDRDDDFIS
NDNYDLEPASELGEDLLKLYVKPCCPDIDIFVDGKRFKAHRAILSARSSYFAAMLSGCWA
ESSQEYVTLQGISHVELNVMMHFIYGGTLDIPDKTNVGQILNMADMYGLEGLKEVAIYIL
RRDYCNFFQKPVPRTLTSILECLIIAHSVGVESLFADCMKWIVKHFARFWSERSFANIPP
EIQKSCLNMLIQSLVSIT
Sequence length 378
Interactions View interactions