Gene: bbs7

Basic information

Tag Content
Uniprot ID F1Q6W8
Entrez ID
Genbank protein ID
Genbank nucleotide ID
Ensembl protein ID ENSDARP00000078268
Ensembl nucleotide ID ENSDARG00000059911
Gene name Bardet-Biedl syndrome 7 protein homolog
Gene symbol bbs7
Organism Danio rerio
NCBI taxa ID 7955
Cleft type
Developmental stage
Data sources Homology search
Reference
Functional description The BBSome complex is thought to function as a coat complex required for sorting of specific membrane proteins to the primary cilia. The BBSome complex is required for ciliogenesis but is dispensable for centriolar satellite function.
Sequence
MELNLNHVDY IQVGVTSQKT MKLLPSAGRK STQKVAVADH DGVVSCFGMK KGEAVPVFKS 60
LPGQKISRLE LGGALGTPQE KIFVSSGSEV RGYTKKGKQF LTFEANLTES INAMHVSGAD 120
LFVCASYIYN HYCDCKDQDY YLSGDKINDV LCLPVETVGR IVPILACQDR VLRVLQGSEL 180
QYDVEVPGPP TVLERHDRDG GKGGEEVLYG TADGKLGLVR IAKSGPVTSW ELDNEKKKGG 240
VLCIDTFDIV ADGVKDILVG RDDGTVEVYG LDGSNEPTLR FENVLSESVT SIQGGCVGKE 300
MYDEVLTTTY TGWVSGLTTE PQQMVAGPGE EIKMSQETQG KVAALRAELE QLQLKVLQGR 360
EKYQQSSQSS TAVSAVPVFS INDKFTLCQD DASYSLTLEV QTAIDNLLLQ SDVPIDLLDV 420
DKNSAVVSFS ECDSESNGNF LLATYRCQAN TTRLELKVRS IEGQYGTLQA YVTPRLQPKT 480
CQVRQYQIKP LSLHQRTHTI EQERPMNTLR LTGQFSFAEI HSWVVFCLPE VPEKTPAGEN 540
ITFCFQNTFL GTQLEATYCK GEANFKSDNI STISILKDVL SKEATKRKIN LNISYEVNED 600
SVSHTLRMIH PKLEYQLILA KKVQLIDALK ELQVHEGNAD FLIPEYRSIL DESAQLLEEY 660
KKQPAHLERL YGMITDLFID KFKFKGQNVK TKVSQLLAIL NNYELDSLME FFSEA 715

Abbreviation :
CLO : cleft lip only. CPO : cleft palate only. CLP : cleft lip and palate. CL/P : cleft lip with/without cleft palate.
For humans: CL/P, CLO, CPO, and CLP. For mice: CLO, CLP, and CPO.

Protein disorder information

Orthologous information

Relation Gene symbol Entrez ID UniProt ID Cleft type Developmental stage Species Evidence Details
1:1 orthologBBS7476092E2RQA6Canis lupus familiarisPredictionMore>>
1:1 orthologBBS7102188122A0A452FKE4Capra hircusPredictionMore>>
1:1 orthologBBS7100063923A0A3Q2H7W6Equus caballusPredictionMore>>
1:1 orthologBBS755212Q8IWZ6Homo sapiensPredictionMore>>
1:1 orthologBbs771492Q8K2G4CPO,CLP,CLOMus musculusPublicationMore>>
1:1 orthologBBS7K7BD37Pan troglodytesPredictionMore>>
1:1 orthologBBS7A0A288CFV9Sus scrofaPredictionMore>>
1:1 orthologBbs7361930Q66H90Rattus norvegicusPredictionMore>>
1:1 orthologbbs7F1Q6W8Danio rerioPredictionMore>>

Gene ontology

GO ID GO Term
GO:0005930 axoneme
GO:0034464 BBSome
GO:0036064 ciliary basal body
GO:0016020 membrane
GO:0043005 neuron projection
GO:0060271 cilium assembly
GO:0007368 determination of left/right symmetry
GO:0007369 gastrulation
GO:0001947 heart looping
GO:0046907 intracellular transport
GO:0070121 Kupffer's vesicle development
GO:0032402 melanosome transport
GO:1905515 non-motile cilium assembly
GO:0033339 pectoral fin development
GO:0051877 pigment granule aggregation in cell center
GO:0008104 protein localization
GO:0015031 protein transport

Functional annotations

Keywords

Keyword ID Keyword Term
KW-0966 Cell projection
KW-0969 Cilium
KW-0970 Cilium biogenesis/degradation
KW-0175 Coiled coil
KW-0963 Cytoplasm
KW-0206 Cytoskeleton
KW-0653 Protein transport
KW-1185 Reference proteome
KW-0813 Transport

Interpro

InterPro ID InterPro Term
IPR016575 Bardet-Biedl_syndrome_7_prot
IPR036322 WD40_repeat_dom_sf

PROSITE

PROSITE ID PROSITE Term

Pfam

Pfam ID Pfam Term