Reactome | UniProt:Q3SYG4 BBS9

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UniProt:Q3SYG4 BBS9 Show undefined attributes

chain	chain:1-887
checksum	8E333B7680243B7A
comment	FUNCTION 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. This ciliogenic function is mediated in part by the Rab8 GDP/GTP exchange factor, which localizes to the basal body and contacts the BBSome. Rab8(GTP) enters the primary cilium and promotes extension of the ciliary membrane. Firstly the BBSome associates with the ciliary membrane and binds to RAB3IP/Rabin8, the guanosyl exchange factor (GEF) for Rab8 and then the Rab8-GTP localizes to the cilium and promotes docking and fusion of carrier vesicles to the base of the ciliary membrane. Required for proper BBSome complex assembly and its ciliary localization.SUBUNIT Part of BBSome complex, that contains BBS1, BBS2, BBS4, BBS5, BBS7, BBS8/TTC8, BBS9 and BBIP10. Interacts with LZTL1; the interaction mediates the association of LZTL1 with the BBsome complex and regulates BBSome ciliary trafficking.INTERACTION Widely expressed. Expressed in adult heart, skeletal muscle, lung, liver, kidney, placenta and brain, and in fetal kidney, lung, liver and brain.INDUCTION Down-regulated by parathyroid hormone.DISEASE A chromosomal aberration involving PTHB1 has been found in Wilms tumor. Translocation t(1;7)(q42;p15) with OBSCN.DISEASE The disease is caused by variants affecting the gene represented in this entry.SEQUENCE CAUTION Chimera.SEQUENCE CAUTION Truncated N-terminus.
created	[InstanceEdit:217385] Schmidt, EE, 2008-03-27 06:23:53
crossReference	[DatabaseIdentifier:10978845] Pharos - Targets:Q3SYG4 [DatabaseIdentifier:11076907] OpenTargets:ENSG00000122507 [DatabaseIdentifier:11614735] RefSeq:NP_001028776.1 [DatabaseIdentifier:11614742] RefSeq:NP_001028777.1 [DatabaseIdentifier:11614746] RefSeq:NP_001334965.1 [DatabaseIdentifier:11614752] RefSeq:NP_055266.2 [DatabaseIdentifier:11614758] RefSeq:NP_940820.1 [DatabaseIdentifier:11739778] PDB:4YD8 [DatabaseIdentifier:11739791] PDB:6XT9 [DatabaseIdentifier:11828455] PRO:Q3SYG4 [DatabaseIdentifier:11849949] GeneCards:Q3SYG4 [DatabaseIdentifier:11884633] Orphanet:15358 [DatabaseIdentifier:11900362] HPA:ENSG00000122507-BBS9 [DatabaseIdentifier:12129465] Ensembl:ENSP00000313122 [DatabaseIdentifier:12129466] Ensembl:ENST00000673462 [DatabaseIdentifier:12129467] Ensembl:ENST00000242067 [DatabaseIdentifier:12129468] Ensembl:ENST00000350941 [DatabaseIdentifier:12129469] Ensembl:ENSP00000347182 [DatabaseIdentifier:12129470] Ensembl:ENST00000672717 [DatabaseIdentifier:12129471] Ensembl:ENSP00000242067 [DatabaseIdentifier:12129472] Ensembl:ENSP00000405151 [DatabaseIdentifier:12129473] Ensembl:ENST00000396127 [DatabaseIdentifier:12129474] Ensembl:ENSP00000379433 [DatabaseIdentifier:12129475] Ensembl:ENSG00000122507 [DatabaseIdentifier:12129476] Ensembl:ENST00000355070 [DatabaseIdentifier:12129477] Ensembl:ENST00000425508 [DatabaseIdentifier:12129478] Ensembl:ENSP00000499848 [DatabaseIdentifier:12129479] Ensembl:ENSP00000499835
databaseName	UniProt
dbId	244232
description	recommendedName: Protein PTHB1 alternativeName: Bardet-Biedl syndrome 9 protein alternativeName: Parathyroid hormone-responsive B1 gene protein
displayName	UniProt:Q3SYG4 BBS9
geneName	BBS9 PTHB1
identifier	Q3SYG4
isSequenceChanged	false
keyword	3D-structure Alternative splicing Bardet-Biedl syndrome Cell membrane Cell projection Chromosomal rearrangement Ciliopathy Cilium Cilium biogenesis/degradation Cytoplasm Cytoskeleton Disease variant Intellectual disability Membrane Obesity Protein transport Reference proteome Sensory transduction Transport Vision
modified	[InstanceEdit:12187927] Wright, Adam, 2024-03-12
name	BBS9
otherIdentifier	11742738_a_at 11750619_a_at 11753038_a_at 1555555_PM_at 1555555_at 17045032 209958_PM_s_at 209958_s_at 27241 2996323 2996324 2996325 2996327 2996329 2996330 2996331 2996335 2996336 2996337 2996338 2996339 2996341 2996342 2996346 2996347 2996348 2996350 2996351 2996353 2996355 2996357 2996358 2996361 2996372 2996373 2996387 2996388 2996398 2996410 2996411 2996413 2996414 2996415 2996416 37547_PM_at 37547_at 37549_PM_g_at 37549_g_at 4875753C_3p_at 8132218 A_14_P106710 A_14_P126605 A_14_P127730 A_14_P132514 A_14_P132729 A_14_P136500 A_23_P82351 A_24_P366555 A_33_P3360087 GE59515 GO:0000242 GO:0003674 GO:0005515 GO:0005737 GO:0005813 GO:0005815 GO:0005829 GO:0005856 GO:0005886 GO:0005929 GO:0007601 GO:0015031 GO:0016020 GO:0030030 GO:0030154 GO:0034451 GO:0034464 GO:0035869 GO:0042995 GO:0043226 GO:0044782 GO:0045444 GO:0050877 GO:0050896 GO:0060170 GO:0060271 GO:0061512 HMNXSV003008860 HMNXSV003018927 Hs2.79340.2.S1_3p_at ILMN_1794956 ILMN_2352159 PH_hs_0004590 TC07000215.hg TC07000216.hg U87408_at g4588086_3p_s_at
physicalEntity	[EntityWithAccessionedSequence:R-HSA-5617630] BBS9 [cytosol] - Homo sapiens
referenceDatabase	[ReferenceDatabase:2] UniProt
referenceGene	[ReferenceDNASequence:9000265] ENSEMBL:ENSG00000122507 BBS9 [ReferenceDNASequence:11027180] KEGG Gene (Homo sapiens):27241 BBS9 [ReferenceDNASequence:11254569] NCBI Gene:27241 BBS9 [ReferenceDNASequence:11254570] BioGPS Gene:27241 BBS9 [ReferenceDNASequence:11254571] CTD Gene:27241 BBS9 [ReferenceDNASequence:11254572] dbSNP Gene:27241 BBS9 [ReferenceDNASequence:11254573] Monarch:27241 BBS9 [ReferenceDNASequence:11355953] ENSEMBL_homo_sapiens_GENE:ENSG00000122507.21 BBS9 [ReferenceDNASequence:11515167] UCSC:Q3SYG4 BBS9 [ReferenceDNASequence:11797639] OMIM:607968 BBS9 [ReferenceDNASequence:11877301] HGNC:30000 BBS9 [ReferenceDNASequence:12193798] COSMIC (genes):BBS9 BBS9
referenceTranscript	[ReferenceRNASequence:11468504] RefSeq:NM_001033604.1 BBS9 [ReferenceRNASequence:11468505] RefSeq:NM_001033605.1 BBS9 [ReferenceRNASequence:11468513] RefSeq:NM_001348036.1 BBS9 [ReferenceRNASequence:11468514] RefSeq:NM_014451.3 BBS9 [ReferenceRNASequence:11468523] RefSeq:NM_198428.2 BBS9
schemaClass	ReferenceGeneProduct
secondaryIdentifier	PTHB1_HUMAN E9PDC9 P78514 Q7KYS6 Q7KYS7 Q8N570 Q99844 Q99854 Q9Y699 Q9Y6A0
sequenceLength	887
species	[Species:48887] Homo sapiens
url	https://purl.uniprot.org/uniprot/Q3SYG4

Referrals

(referenceEntity)

[EntityWithAccessionedSequence:R-HSA-5617630] BBS9 [cytosol]

(interactor)