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UniProtKB - Q96RK4 (BBS4_HUMAN)

Protein

Bardet-Biedl syndrome 4 protein

Gene

BBS4

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

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. The BBSome complex, together with the LTZL1, controls SMO ciliary trafficking and contributes to the sonic hedgehog (SHH) pathway regulation. Required for proper BBSome complex assembly and its ciliary localization. Required for microtubule anchoring at the centrosome but not for microtubule nucleation. May be required for the dynein-mediated transport of pericentriolar proteins to the centrosome.3 Publications

GO - Molecular functioni

  • alpha-tubulin binding Source: BHF-UCL
  • beta-tubulin binding Source: BHF-UCL
  • dynactin binding Source: BHF-UCL
  • microtubule motor activity Source: UniProtKB
  • RNA polymerase II repressing transcription factor binding Source: MGI
View the complete GO annotation on QuickGO ...

GO - Biological processi

View the complete GO annotation on QuickGO ...

Keywordsi

Biological processCilium biogenesis/degradation, Protein transport, Sensory transduction, Transport, Vision

Enzyme and pathway databases

ReactomeiR-HSA-5620922 BBSome-mediated cargo-targeting to cilium

Names & Taxonomyi

Protein namesi
Recommended name:
Bardet-Biedl syndrome 4 protein
Gene namesi
Name:BBS4
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
Proteomesi
  • UP000005640 Componenti: Chromosome 15

Organism-specific databases

EuPathDBiHostDB:ENSG00000140463.13
HGNCiHGNC:969 BBS4
MIMi600374 gene
neXtProtiNX_Q96RK4

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Cell membrane, Cell projection, Cilium, Cytoplasm, Cytoskeleton, Flagellum, Membrane

Pathology & Biotechi

Involvement in diseasei

Bardet-Biedl syndrome 4 (BBS4)6 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA syndrome characterized by usually severe pigmentary retinopathy, early-onset obesity, polydactyly, hypogenitalism, renal malformation and mental retardation. Secondary features include diabetes mellitus, hypertension and congenital heart disease. Bardet-Biedl syndrome inheritance is autosomal recessive, but three mutated alleles (two at one locus, and a third at a second locus) may be required for clinical manifestation of some forms of the disease.
See also OMIM:615982
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_017049165N → H in BBS4. 1 Publication1
Natural variantiVAR_013170295R → P in BBS4. 1 PublicationCorresponds to variant dbSNP:rs121434632EnsemblClinVar.1
Natural variantiVAR_017050327L → P in BBS4. 1 Publication1
Natural variantiVAR_038895351L → R in BBS4. 1 Publication1
Natural variantiVAR_017051364A → E in BBS4. 1 PublicationCorresponds to variant dbSNP:rs28938468EnsemblClinVar.1
Natural variantiVAR_038896368D → G in BBS4. 1 PublicationCorresponds to variant dbSNP:rs772548770Ensembl.1
Natural variantiVAR_017052457S → I in BBS4. 1 Publication1
Natural variantiVAR_017053472M → V in BBS4. 2 PublicationsCorresponds to variant dbSNP:rs2277596EnsemblClinVar.1
Natural variantiVAR_038897503P → L in BBS4. Corresponds to variant dbSNP:rs756419611Ensembl.1

Keywords - Diseasei

Bardet-Biedl syndrome, Ciliopathy, Disease mutation, Mental retardation, Obesity

Organism-specific databases

DisGeNETi585
GeneReviewsiBBS4
MalaCardsiBBS4
MIMi615982 phenotype
OpenTargetsiENSG00000140463
Orphaneti110 Bardet-Biedl syndrome
PharmGKBiPA25278

Polymorphism and mutation databases

BioMutaiBBS4
DMDMi160359000

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00001062631 – 519Bardet-Biedl syndrome 4 proteinAdd BLAST519

Proteomic databases

EPDiQ96RK4
MaxQBiQ96RK4
PaxDbiQ96RK4
PeptideAtlasiQ96RK4
PRIDEiQ96RK4
ProteomicsDBi77975
77976 [Q96RK4-2]

PTM databases

iPTMnetiQ96RK4
PhosphoSitePlusiQ96RK4

Expressioni

Tissue specificityi

Ubiquitously expressed. The highest level of expression is found in the kidney.

Gene expression databases

BgeeiENSG00000140463 Expressed in 205 organ(s), highest expression level in right uterine tube
CleanExiHS_BBS4
ExpressionAtlasiQ96RK4 baseline and differential
GenevisibleiQ96RK4 HS

Organism-specific databases

HPAiHPA039418

Interactioni

Subunit structurei

Part of BBSome complex, that contains BBS1, BBS2, BBS4, BBS5, BBS7, BBS8/TTC8, BBS9 and BBIP10. Interacts with PCM1 and DCTN1. Interacts with DC28B. Interacts with ALDOB and C2CD3. Interacts with PKD1 (PubMed:24939912). Interacts with CEP290 (PubMed:23943788).7 Publications

Binary interactionsi

GO - Molecular functioni

View the complete GO annotation on QuickGO ...

Protein-protein interaction databases

BioGridi107060, 38 interactors
ComplexPortaliCPX-1908 BBSome complex
CORUMiQ96RK4
DIPiDIP-46540N
IntActiQ96RK4, 59 interactors
STRINGi9606.ENSP00000268057

Structurei

3D structure databases

ProteinModelPortaliQ96RK4
SMRiQ96RK4
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Repeati67 – 100TPR 1Add BLAST34
Repeati101 – 134TPR 2Add BLAST34
Repeati135 – 168TPR 3Add BLAST34
Repeati169 – 201TPR 4Add BLAST33
Repeati203 – 235TPR 5Add BLAST33
Repeati237 – 269TPR 6Add BLAST33
Repeati270 – 303TPR 7Add BLAST34
Repeati304 – 337TPR 8Add BLAST34
Repeati339 – 371TPR 9Add BLAST33
Repeati373 – 408TPR 10Add BLAST36

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni1 – 66Required for localization to centrosomesAdd BLAST66
Regioni101 – 337Interaction with PCM11 PublicationAdd BLAST237
Regioni338 – 519Required for localization to centrosomesAdd BLAST182

Sequence similaritiesi

Belongs to the BBS4 family.Curated

Keywords - Domaini

Repeat, TPR repeat

Phylogenomic databases

eggNOGiKOG1124 Eukaryota
COG0457 LUCA
GeneTreeiENSGT00530000063455
HOGENOMiHOG000261391
HOVERGENiHBG024456
InParanoidiQ96RK4
KOiK16531
OMAiLHLNRHD
OrthoDBiEOG091G09T3
PhylomeDBiQ96RK4
TreeFamiTF324966

Family and domain databases

Gene3Di1.25.40.10, 3 hits
InterProiView protein in InterPro
IPR013026 TPR-contain_dom
IPR011990 TPR-like_helical_dom_sf
IPR019734 TPR_repeat
PfamiView protein in Pfam
PF13181 TPR_8, 3 hits
SMARTiView protein in SMART
SM00028 TPR, 8 hits
SUPFAMiSSF48452 SSF48452, 2 hits
PROSITEiView protein in PROSITE
PS50005 TPR, 8 hits
PS50293 TPR_REGION, 1 hit

Sequences (3+)i

Sequence statusi: Complete.

This entry describes 3 isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 3 described isoforms and 10 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: Q96RK4-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide
        10         20         30         40         50
MAEERVATRT QFPVSTESQK PRQKKAPEFP ILEKQNWLIH LHYIRKDYEA 
        60         70         80         90        100
CKAVIKEQLQ ETQGLCEYAI YVQALIFRLE GNIQESLELF QTCAVLSPQS 
       110        120        130        140        150
ADNLKQVARS LFLLGKHKAA IEVYNEAAKL NQKDWEISHN LGVCYIYLKQ 
       160        170        180        190        200
FNKAQDQLHN ALNLNRHDLT YIMLGKIHLL EGDLDKAIEV YKKAVEFSPE 
       210        220        230        240        250
NTELLTTLGL LYLQLGIYQK AFEHLGNALT YDPTNYKAIL AAGSMMQTHG 
       260        270        280        290        300
DFDVALTKYR VVACAVPESP PLWNNIGMCF FGKKKYVAAI SCLKRANYLA 
       310        320        330        340        350
PFDWKILYNL GLVHLTMQQY ASAFHFLSAA INFQPKMGEL YMLLAVALTN 
       360        370        380        390        400
LEDIENAKRA YAEAVHLDKC NPLVNLNYAV LLYNQGEKKN ALAQYQEMEK 
       410        420        430        440        450
KVSLLKDNSS LEFDSEMVEM AQKLGAALQV GEALVWTKPV KDPKSKHQTT 
       460        470        480        490        500
STSKPASFQQ PLGSNQALGQ AMSSAAAYRT LPSGAGGTSQ FTKPPSLPLE 
       510 
PEPAVESSPT ETSEQIREK
Length:519
Mass (Da):58,282
Last modified:October 23, 2007 - v2
Checksum:i59BC9B29355C8E3C
GO
Isoform 2 (identifier: Q96RK4-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-8: MAEERVAT → MALTVVPSFSVSGVWK

Note: No experimental confirmation available.
Show »
Length:527
Mass (Da):59,084
Checksum:i09A45FF715582D14
GO
Isoform 3 (identifier: Q96RK4-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-172: Missing.

Note: No experimental confirmation available.
Show »
Length:347
Mass (Da):38,282
Checksum:i22AAB3D93C36F0E9
GO

Computationally mapped potential isoform sequencesi

There are 10 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
H3BQV7H3BQV7_HUMAN
Bardet-Biedl syndrome 4 protein
BBS4
141Annotation score:
H3BSL2H3BSL2_HUMAN
Bardet-Biedl syndrome 4 protein
BBS4
281Annotation score:
H3BU58H3BU58_HUMAN
Bardet-Biedl syndrome 4 protein
BBS4
180Annotation score:
H3BPP7H3BPP7_HUMAN
Bardet-Biedl syndrome 4 protein
BBS4
142Annotation score:
H3BSE2H3BSE2_HUMAN
Bardet-Biedl syndrome 4 protein
BBS4
67Annotation score:
H3BUU1H3BUU1_HUMAN
Bardet-Biedl syndrome 4 protein
BBS4
103Annotation score:
H3BV56H3BV56_HUMAN
Bardet-Biedl syndrome 4 protein
BBS4
33Annotation score:
H3BN76H3BN76_HUMAN
Bardet-Biedl syndrome 4 protein
BBS4
77Annotation score:
H3BRY9H3BRY9_HUMAN
Bardet-Biedl syndrome 4 protein
BBS4
20Annotation score:
H3BUQ7H3BUQ7_HUMAN
Bardet-Biedl syndrome 4 protein
BBS4
50Annotation score:

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_03889446K → R2 PublicationsCorresponds to variant dbSNP:rs75295839EnsemblClinVar.1
Natural variantiVAR_06628761E → K Found in patients with Bardet-Biedl syndrome carrying mutations in other BBS genes; uncertain pathological role. 1 PublicationCorresponds to variant dbSNP:rs1251827333Ensembl.1
Natural variantiVAR_017049165N → H in BBS4. 1 Publication1
Natural variantiVAR_028722268E → K. Corresponds to variant dbSNP:rs11638283Ensembl.1
Natural variantiVAR_013170295R → P in BBS4. 1 PublicationCorresponds to variant dbSNP:rs121434632EnsemblClinVar.1
Natural variantiVAR_017050327L → P in BBS4. 1 Publication1
Natural variantiVAR_038895351L → R in BBS4. 1 Publication1
Natural variantiVAR_017054354I → T3 PublicationsCorresponds to variant dbSNP:rs2277598EnsemblClinVar.1
Natural variantiVAR_017051364A → E in BBS4. 1 PublicationCorresponds to variant dbSNP:rs28938468EnsemblClinVar.1
Natural variantiVAR_038896368D → G in BBS4. 1 PublicationCorresponds to variant dbSNP:rs772548770Ensembl.1
Natural variantiVAR_028723393A → V1 PublicationCorresponds to variant dbSNP:rs17852452Ensembl.1
Natural variantiVAR_066288412E → D in a patient with Bardet-Biedl syndrome compound heterozygote for mutations in BBS1; uncertain pathological role. 1 PublicationCorresponds to variant dbSNP:rs147202164EnsemblClinVar.1
Natural variantiVAR_017052457S → I in BBS4. 1 Publication1
Natural variantiVAR_017053472M → V in BBS4. 2 PublicationsCorresponds to variant dbSNP:rs2277596EnsemblClinVar.1
Natural variantiVAR_066289488T → K in a patient with Bardet-Biedl syndrome homozygous for a mutation in BBS12; uncertain pathological role. 1 PublicationCorresponds to variant dbSNP:rs561284402EnsemblClinVar.1
Natural variantiVAR_038897503P → L in BBS4. Corresponds to variant dbSNP:rs756419611Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0475071 – 172Missing in isoform 3. 1 PublicationAdd BLAST172
Alternative sequenceiVSP_0244101 – 8MAEERVAT → MALTVVPSFSVSGVWK in isoform 2. 1 Publication8

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF359281 mRNA Translation: AAK58868.1
AY457143 mRNA Translation: AAS13441.1
AK075321 mRNA Translation: BAC11547.1
AK303706 mRNA Translation: BAG64690.1
AC009712 Genomic DNA No translation available.
BC008923 mRNA Translation: AAH08923.2
BC027624 mRNA Translation: AAH27624.1
CCDSiCCDS10246.1 [Q96RK4-1]
CCDS58377.1 [Q96RK4-3]
RefSeqiNP_001239607.1, NM_001252678.1 [Q96RK4-3]
NP_001307594.1, NM_001320665.1
NP_149017.2, NM_033028.4 [Q96RK4-1]
XP_011520150.1, XM_011521848.1 [Q96RK4-3]
XP_011520151.1, XM_011521849.1 [Q96RK4-3]
XP_016877940.1, XM_017022451.1
XP_016877941.1, XM_017022452.1 [Q96RK4-3]
XP_016877942.1, XM_017022453.1 [Q96RK4-3]
XP_016877943.1, XM_017022454.1 [Q96RK4-3]
UniGeneiHs.208681

Genome annotation databases

EnsembliENST00000268057; ENSP00000268057; ENSG00000140463 [Q96RK4-1]
ENST00000395205; ENSP00000378631; ENSG00000140463 [Q96RK4-3]
GeneIDi585
KEGGihsa:585
UCSCiuc002avb.4 human [Q96RK4-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Cross-referencesi

Web resourcesi

Mutations of the BBS4 gene

Retina International's Scientific Newsletter

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF359281 mRNA Translation: AAK58868.1
AY457143 mRNA Translation: AAS13441.1
AK075321 mRNA Translation: BAC11547.1
AK303706 mRNA Translation: BAG64690.1
AC009712 Genomic DNA No translation available.
BC008923 mRNA Translation: AAH08923.2
BC027624 mRNA Translation: AAH27624.1
CCDSiCCDS10246.1 [Q96RK4-1]
CCDS58377.1 [Q96RK4-3]
RefSeqiNP_001239607.1, NM_001252678.1 [Q96RK4-3]
NP_001307594.1, NM_001320665.1
NP_149017.2, NM_033028.4 [Q96RK4-1]
XP_011520150.1, XM_011521848.1 [Q96RK4-3]
XP_011520151.1, XM_011521849.1 [Q96RK4-3]
XP_016877940.1, XM_017022451.1
XP_016877941.1, XM_017022452.1 [Q96RK4-3]
XP_016877942.1, XM_017022453.1 [Q96RK4-3]
XP_016877943.1, XM_017022454.1 [Q96RK4-3]
UniGeneiHs.208681

3D structure databases

ProteinModelPortaliQ96RK4
SMRiQ96RK4
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi107060, 38 interactors
ComplexPortaliCPX-1908 BBSome complex
CORUMiQ96RK4
DIPiDIP-46540N
IntActiQ96RK4, 59 interactors
STRINGi9606.ENSP00000268057

PTM databases

iPTMnetiQ96RK4
PhosphoSitePlusiQ96RK4

Polymorphism and mutation databases

BioMutaiBBS4
DMDMi160359000

Proteomic databases

EPDiQ96RK4
MaxQBiQ96RK4
PaxDbiQ96RK4
PeptideAtlasiQ96RK4
PRIDEiQ96RK4
ProteomicsDBi77975
77976 [Q96RK4-2]

Protocols and materials databases

DNASUi585
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000268057; ENSP00000268057; ENSG00000140463 [Q96RK4-1]
ENST00000395205; ENSP00000378631; ENSG00000140463 [Q96RK4-3]
GeneIDi585
KEGGihsa:585
UCSCiuc002avb.4 human [Q96RK4-1]

Organism-specific databases

CTDi585
DisGeNETi585
EuPathDBiHostDB:ENSG00000140463.13
GeneCardsiBBS4
GeneReviewsiBBS4
H-InvDBiHIX0012411
HGNCiHGNC:969 BBS4
HPAiHPA039418
MalaCardsiBBS4
MIMi600374 gene
615982 phenotype
neXtProtiNX_Q96RK4
OpenTargetsiENSG00000140463
Orphaneti110 Bardet-Biedl syndrome
PharmGKBiPA25278
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG1124 Eukaryota
COG0457 LUCA
GeneTreeiENSGT00530000063455
HOGENOMiHOG000261391
HOVERGENiHBG024456
InParanoidiQ96RK4
KOiK16531
OMAiLHLNRHD
OrthoDBiEOG091G09T3
PhylomeDBiQ96RK4
TreeFamiTF324966

Enzyme and pathway databases

ReactomeiR-HSA-5620922 BBSome-mediated cargo-targeting to cilium

Miscellaneous databases

GeneWikiiBBS4
GenomeRNAii585
PROiPR:Q96RK4
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000140463 Expressed in 205 organ(s), highest expression level in right uterine tube
CleanExiHS_BBS4
ExpressionAtlasiQ96RK4 baseline and differential
GenevisibleiQ96RK4 HS

Family and domain databases

Gene3Di1.25.40.10, 3 hits
InterProiView protein in InterPro
IPR013026 TPR-contain_dom
IPR011990 TPR-like_helical_dom_sf
IPR019734 TPR_repeat
PfamiView protein in Pfam
PF13181 TPR_8, 3 hits
SMARTiView protein in SMART
SM00028 TPR, 8 hits
SUPFAMiSSF48452 SSF48452, 2 hits
PROSITEiView protein in PROSITE
PS50005 TPR, 8 hits
PS50293 TPR_REGION, 1 hit
ProtoNetiSearch...

Entry informationi

Entry nameiBBS4_HUMAN
AccessioniPrimary (citable) accession number: Q96RK4
Secondary accession number(s): B4E178
, Q53DZ5, Q8NHU9, Q96H45
Entry historyiIntegrated into UniProtKB/Swiss-Prot: May 2, 2002
Last sequence update: October 23, 2007
Last modified: November 7, 2018
This is version 175 of the entry and version 2 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. SIMILARITY comments
    Index of protein domains and families
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. Human chromosome 15
    Human chromosome 15: entries, gene names and cross-references to MIM
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