Basic Information | |||
Gene ID | 55212 ; Check Expression Profles ; Check TFs & Targets Binding | ||
Gene Name | BBS7; BBS2L1 | ||
Full Name | Bardet-Biedl syndrome 7 protein | ||
Organism | Homo sapiens [9606] |
Cross Reference | |||
UniProt | Q8IWZ6 | UniGene | Hs.591694 |
PDB | NULL | OMIM | 607590 |
KEGG | hsa:55212 | UCSC | uc003ied.3 |
Protein Interactions | |
DIP | DIP-46566N |
IntAct | Q8IWZ6 |
MINT | NULL |
STRING | 9606.ENSP00000264499 |
Ensembl/RefSeq | Transcript ID | Protein ID | Gene ID |
ENSEMBL | |||
ENSEMBL | |||
REFSEQ | |||
REFSEQ |
InterPro Annotation | |||||||
Protein | Program | Term | IPRS | Start | End | Score | Description |
NP_789794 | Gene3D | G3DSA:2.130.10.10 | IPR015943 | 207 | 292 | 2.40e-06 | WD40/YVTN repeat-like-containing domain |
NP_789794 | Gene3D | G3DSA:2.130.10.10 | IPR015943 | 32 | 158 | 2.40e-06 | WD40/YVTN repeat-like-containing domain |
NP_789794 | PANTHER | PTHR16074:SF3 | IPR016575 | 1 | 715 | 0.00e-00 | Bardet-Biedl syndrome 7 protein |
NP_789794 | PIRSF | PIRSF011091 | IPR016575 | 1 | 715 | 0.00e-00 | Bardet-Biedl syndrome 7 protein |
NP_789794 | SUPERFAMILY | SSF50978 | IPR017986 | 105 | 316 | 0.00e-00 | WD40-repeat-containing domain |
NP_789794 | SUPERFAMILY | SSF50978 | IPR017986 | 33 | 59 | 0.00e-00 | WD40-repeat-containing domain |
Pfam Annotation | ||||
Protein | Pfam ID | E.value | Name | Description |
NP_789794 | PF14783 | 0.0006 | BBS2_Mid | Ciliary BBSome complex subunit 2, middle region |
Gene Ontology Annotation | |||
Protein | Entry | Name Space | Description |
NP_789794 | GO:0001654 | biological_process | eye development |
NP_789794 | GO:0001947 | biological_process | heart looping |
NP_789794 | GO:0006357 | biological_process | regulation of transcription from RNA polymerase II promoter |
NP_789794 | GO:0007224 | biological_process | smoothened signaling pathway |
NP_789794 | GO:0007368 | biological_process | determination of left/right symmetry |
NP_789794 | GO:0007420 | biological_process | brain development |
NP_789794 | GO:0007601 | biological_process | visual perception |
NP_789794 | GO:0015031 | biological_process | protein transport |
NP_789794 | GO:0032402 | biological_process | melanosome transport |
NP_789794 | GO:0032436 | biological_process | positive regulation of proteasomal ubiquitin-dependent protein catabolic process |
NP_789794 | GO:0035058 | biological_process | nonmotile primary cilium assembly |
NP_789794 | GO:0045444 | biological_process | fat cell differentiation |
NP_789794 | GO:0048546 | biological_process | digestive tract morphogenesis |
NP_789794 | GO:0051877 | biological_process | pigment granule aggregation in cell center |
NP_789794 | GO:0060021 | biological_process | palate development |
NP_789794 | GO:0060173 | biological_process | limb development |
NP_789794 | GO:0060271 | biological_process | cilium morphogenesis |
NP_789794 | GO:0005737 | cellular_component | cytoplasm |
NP_789794 | GO:0005813 | cellular_component | centrosome |
NP_789794 | GO:0034464 | cellular_component | BBSome |
NP_789794 | GO:0060170 | cellular_component | ciliary membrane |
NP_789794 | GO:0001103 | molecular_function | RNA polymerase II repressing transcription factor binding |
NP_789794 | GO:0005515 | molecular_function | protein binding |