BBS4

BBS4 est un gène situé sur le chromosome 15 humain.

BBS4
Identifiants
Alias	BBS4
IDs externes	OMIM: 600374 MGI: 2143311 HomoloGene: 13197 GeneCards: BBS4
Position du gène (humain) Chr. Chromosome 15 humain Locus 15q24.1 Début 72,686,179 bp Fin 72,738,475 bp
Position du gène (souris) Chr. Chromosome 9 (souris) Locus 9 B|9 32.01 cM Début 59,229,273 bp Fin 59,260,791 bp
Expression génique Bgee Humain Souris (orthologue) Fortement exprimé dans right uterine tube ovocyte secondary oocyte anté-hypophyse right lobe of thyroid gland ventricular zone left ovary left lobe of thyroid gland right testis left testis Fortement exprimé dans primary oocyte spermatocyte zygote secondary oocyte spermatide épithélium olfactif neural layer of retina dorsomedial hypothalamic nucleus facial motor nucleus epithelium of lens Plus de données d'expression de référence BioGPS Plus de données d'expression de référence
Gene Ontology Fonction moléculaire microtubule motor activity dynactin binding alpha-tubulin binding liaison protéique beta-tubulin binding Composant cellulaire cytoplasme ciliary basal body centrosome prolongement cellulaire BBSome matériel péricentriolaire membrane photoreceptor inner segment membrane plasmique photoreceptor outer segment cil cellulaire centriolar satellite ciliary transition zone photoreceptor connecting cilium centre organisateur des microtubules ciliary membrane centriole motile cilium cytosquelette noyau cytosol non-motile cilium Processus biologique protein localization to organelle fat pad development cilium assembly regulation of cilium beat frequency involved in ciliary motility protein localization regulation of cytokinesis negative regulation of actin filament polymerization negative regulation of appetite by leptin-mediated signaling pathway réponse à un stimulus leptin-mediated signaling pathway synthèse des dentrites mitotic cytokinesis intégration sensorielle intracellular transport migration d'un neurone organisation du segment externe d'une cellule photoréceptrice negative regulation of gene expression ventricular system development regulation of stress fiber assembly protein localization to photoreceptor outer segment heart looping sensory perception of smell regulation of lipid metabolic process face development neural tube closure retina homeostasis adult behavior negative regulation of GTPase activity organisation de la projection de cellules protein localization to cilium melanosome transport retinal rod cell development spermatid development positive regulation of multicellular organism growth développement du cortex cérébral protein transport comportement social protein localization to centrosome positive regulation of cilium assembly photoreceptor cell maintenance regulation of non-motile cilium assembly response to leptin negative regulation of systemic arterial blood pressure hippocampus development fat cell differentiation microtubule cytoskeleton organization maintenance of protein location in nucleus striatum development microtubule anchoring at centrosome vue brain morphogenesis non-motile cilium assembly centrosome cycle Sources:Amigo / QuickGO
Orthologues Espèces Homme Souris Entrez 585 102774 Ensembl ENSG00000140463 ENSMUSG00000025235 UniProt Q96RK4 Q8C1Z7 RefSeq (mRNA) NM_001252678 NM_033028 NM_001320665 NM_175325 NM_001359558 RefSeq (protéine) NP_001239607 NP_001307594 NP_149017 NP_780534 NP_001346487 Localisation (UCSC) Chr 15: 72.69 – 72.74 Mb Chr 9: 59.23 – 59.26 Mb Publication PubMed
Wikidata
Voir/Editer Humain Voir/Editer Souris

Maladies liées

• Syndrome de Bardet-Biedl