BBOF1 (basal body orientation factor 1)

Gene
Gene Gene ontology Other IDs Protein Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
80127
Gene name Gene Name - the full gene name approved by the HGNC.
Basal body orientation factor 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
BBOF1
Synonyms (NCBI Gene) Gene synonyms aliases
C14orf45, CCDC176, FBB10
Chromosome Chromosome number
14
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
14q24.3
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene Gene ontology Other IDs Protein Associated diseases
Show/Hide all(3)
GO ID Ontology Definition Evidence Reference
GO:0005737 Component Cytoplasm IEA
GO:0036064 Component Ciliary basal body ISS
GO:0044458 Process Motile cilium assembly ISS
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
620496 19855 ENSG00000119636
Protein
Gene Gene ontology Other IDs Protein Associated diseases
UniProt ID Q8ND07
Protein name Basal body-orientation factor 1 (Coiled-coil domain-containing protein 176)
Protein function Plays an essential role in sperm motility and male fertility by stabilizing the sperm flagellar axonemal structure. May be required for the stability of ODF2 and MANS1 proteins. Dispensable for the assembly and function of motile cilia. {ECO:000
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF14988 DUF4515 77 → 270 Domain of unknown function (DUF4515) Family
Sequence 
MPSKGKDKKKGKSKGKDTKKLIKTDESVVDRAKANASLWEARLEVTELSRIKYRDTSRIL
AKSNEDLKKKQCKMEKDIMSVLSYLKKQDQEKDNMIEKLKQQLNETKEKAQEEKDKLEQK
YTRQINELEGQFHQKAKEIGMIHTELKAVRQFQKRKIQVERELDDLKENLRNTERIHQET
LRRLESRFFEEKHRLEQEAEKKIIMLAERAHHEAIVQLNDAGRNVFKENDYLQKALAYHL
KETDALQKNSQKLQESHTLLLHQKEINDLLVKEKIMQLVQQRSQIQTLQKKVVNLETALS
YMTKEFESEVLKLQQHAMIENQAGQVEIDKLQHLLQMKDREMNRVKKLAKNILDERTEVE
RFFLDALHQVKQQILISRKHYKQIAQAAFNLKMRAACTGRTEYPKIRTFDGREHSTNSVN
QDLLEAEKWTHIEGNVDIGDLTWEQKEKVLRLLFAKMNGCPSRKYNQSSRPPVPDYVVSD
SGETKEFGDESKLQDKIFITQQIAISDSSGEVVLPTIPKEPQESDTGTF
Sequence length 529
Interactions View interactions
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Gene Gene ontology Other IDs Protein Associated diseases
Show/Hide Causal Diseases (1)
Causal
Disease term Disease name dbSNP ID References
Methylmalonate semialdehyde dehydrogenase deficiency Methylmalonate Semialdehyde Dehydrogenase Deficiency rs72552258, rs879255579, rs796065046, rs367863044, rs869320672