Gene

KWMTBOMO05953

Pre Gene Modal

BGIBMGA002904

Annotation

PREDICTED:_Bardet-Biedl_syndrome_1_protein_[Bombyx_mori]

Location

Bomo_Chr10(-):15334867-15339140      View in EpiBrowser

Full name

Bardet-Biedl syndrome 1 protein       + More
Bardet-Biedl syndrome 1 protein homolog      

Alternative Name

BBS2-like protein 2

Location in the cell

Cytoplasmic   Reliability : 2.016 Mitochondrial   Reliability : 1.965

CDS

ATGCACGAGGCTTTTCAATTAGAATTGAACAGATTGAGGTTGCTGGCCACAAGAACGCTCCTGGATGCTCACGCCAAATCCGAGAATTTCATGGGAGTCGGGGCCATGGAGCCCATAGGACTGACGGCTGAGGTTGAAGGTCTGGGCCCCGTGTTCCGGGTGACGCTCTTCGTGGAGAACAAGTCAAAGGAGCGAGCGGTAGCGGGGCTCGCGGTACTATTCCACGCGCACACCGCCCACTACAGAGTAACGAATCCATACATTAAGGTACCGTTAATATCTCCGGGAGGGAAATTAAAATTTCCAACGAAGATCGAAGAGGTATTCGAGGAGAACATAAATCCTGATGTGTTCTTTCGTCCTGTGACCGGACAGGCCGGGGACCGCGCGCTGGTCAAAGTGTTACTGCTGAAAGAGGACAGGAAGAGGCCCGTACTGGCGGCCACAGTTCAGATGCCTCCGACCGATCCGATGATGTTGCCATTCGAGAAAATACAATCCGGTTACCAGAATAACGCTGTCGATTGGGAAATAGAACGAAAAAATTGA

Protein

MHEAFQLELNRLRLLATRTLLDAHAKSENFMGVGAMEPIGLTAEVEGLGPVFRVTLFVENKSKERAVAGLAVLFHAHTAHYRVTNPYIKVPLISPGGKLKFPTKIEEVFEENINPDVFFRPVTGQAGDRALVKVLLLKEDRKRPVLAATVQMPPTDPMMLPFEKIQSGYQNNAVDWEIERKN

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. 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 (PubMed:17574030, PubMed:22072986). Plays a role in olfactory cilium biogenesis/maintenance and trafficking (By similarity).
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 (By similarity). Plays a role in olfactory cilium biogenesis/maintenance and trafficking and is essential for the localization of the BBSome complex in the olfactory sensory neurons cilia (PubMed:15322545, PubMed:28237838).

Subunit

Part of BBSome complex, that contains BBS1, BBS2, BBS4, BBS5, BBS7, BBS8/TTC8, BBS9 and BBIP10. Interacts with the C-terminus of RAB3IP. Interacts with CCDC28B and ALDOB. Interacts with PKD1 (PubMed:24939912).
Part of BBSome complex, that contains BBS1, BBS2, BBS4, BBS5, BBS7, BBS8/TTC8, BBS9 and BBIP10. Interacts with the C-terminus of RAB3IP. Interacts with CCDC28B and ALDOB. Interacts with PKD1.

Keywords

Acetylation   Alternative splicing   Bardet-Biedl syndrome   Cell membrane   Cell projection   Ciliopathy   Cilium   Complete proteome   Cytoplasm   Cytoskeleton   Disease mutation   Membrane   Mental retardation   Obesity   Olfaction   Polymorphism   Protein transport   Reference proteome   Sensory transduction   Transport   Vision  

Feature

chain  Bardet-Biedl syndrome 1 protein
splice variant  In isoform 3.
sequence variant  In BBS1; dbSNP:rs775990952.

Uniprot

H9J069   A0A2A4JB20   A0A2A4JCJ0   A0A2H1W376   A0A3S2MAU0   A0A194QWL4   + More
A0A194Q555   A0A0L7LQI9   A0A087UPH7   A0A182GWW1   A0A1S4FLT6   Q16WI6   A0A3Q3GPE1   A0A182RSM4   A0A3B4ZU67   A0A3Q3JEC1   A0A3Q2XF18   A0A3Q1BHR1   A0A3P8Q4B4   A0A3P9CLH6   A0A3B4GJB6   A0A3Q2WC54   A0A2R9B2R4   A0A2I3TBN5   I3KSH0   A0A2R9B6N6   A0A2I3S237   A0A2R9B2Q9   A0A2R9B6M3   A0A2I3TCH5   K7BAJ5   A0A3Q0SEI3   B0WXE2   A0A3P9MWJ2   A0A3P9MWM1   A0A3B4XX21   A0A0S7GGZ7   A0A3P9DLC4   A0A067RAV1   A0A3B3YNA7   A0A3B3U063   A0A1S3W5U1   A0A182WJ93   Q3TQ82   A0A087YHA2   A0A315VHN2   A0A3B3XAF0   A0A3P8SPG8   A0A182M5X6   A0A2J7R229   A0A3Q1GLI0   A0A1S3W5V4   A0A2K6GLW7   A0A3B4UMK2   A0A2K6ST18   A0A2K6GLV5   M3ZCM3   B4DJZ7   A0A1B0CX97   E7EQH1   A0A2I3GZH0   A0A061IBV1   A0A2K6ST31   A0A3Q7VLS0   H2N1F5   A0A3P9HFF4   Q8NFJ9   A0A384DJN2   A0A3Q7URU4   Q8NFJ9-2   A0A3Q3WIM6   A0A0S7GM05   U6D4R9   A0A2I2Y4U0   A0A2Y9JQ64   M3XVF5   L8Y3M0   A0A1U7T5Q7   A0A1A6HVM5   T1JYJ2   A0A091DBB5   G3RBR0   D4A4U2   Q3V3N7   A0A2J8U023   A0A2K5E441   H2NCR2   M3ZLB9   A0A084WN87   A0A2K5E437  

Pubmed

19121390    26354079    26227816    26483478    17510324    25186727    + More
22722832    16136131    24845553    10349636    11042159    11076861    11217851    12466851    16141073    29703783    16554811    19413330    23929341    29704459    17554307    12118255    14702039    15489334    16327777    17574030    18000879    22072986    24939912    12524598    12567324    12677556    12920096    15770229    21052717    21258341    21344540    23385571    15057822    15632090    16141072    19468303    15322545    18032602    21183079    28237838    23542700    24438588   

EMBL

BABH01019008    NWSH01002062    PCG69275.1    PCG69274.1    ODYU01006043    SOQ47539.1    + More
RSAL01000002    RVE54988.1    KQ461175    KPJ07961.1    KQ459472    KPJ00135.1    JTDY01000324    KOB77695.1    KK120879    KFM79266.1    JXUM01094165    KQ564108    KXJ72777.1    CH477565    EAT38940.1    AJFE02101452    AJFE02101453    AJFE02101454    AJFE02101455    AJFE02101456    AACZ04016225    AERX01022087    GABC01007681    GABF01010255    GABD01010512    JAA03657.1    JAA11890.1    JAA22588.1    DS232163    EDS36472.1    GBYX01453114    JAO28401.1    KK852575    KDR20997.1    AK163815    BAE37502.1    AYCK01026358    AYCK01026359    AYCK01026360    NHOQ01001897    PWA21793.1    AXCM01000778    NEVH01008201    PNF34883.1    ADFV01079751    ADFV01079752    ADFV01079753    ADFV01079754    AK296311    BAG59009.1    AJWK01033465    AJWK01033466    AP002748    KE673007    RAZU01000139    ERE78739.1    RLQ70148.1    AF503941    AK027645    BC109064    BC109065    GBYX01453113    GBYX01453108    JAO28402.1    HAAF01005033    CCP76858.1    CABD030079807    CABD030079808    AEYP01049266    KB370292    ELV09530.1    LZPO01008032    OBS82508.1    CAEY01001108    KN122776    KFO28367.1    AABR07072015    CH473953    EDM12435.1    AK037753    AC141437    NDHI03003478    PNJ38616.1    ABGA01355429    ABGA01355430    ABGA01355431    ATLV01024577    KE525352    KFB51681.1   

Proteomes

UP000005204    UP000218220    UP000283053    UP000053240    UP000053268    UP000037510    + More
UP000054359    UP000069940    UP000249989    UP000008820    UP000261660    UP000075900    UP000261400    UP000261600    UP000264840    UP000257160    UP000265100    UP000265160    UP000261460    UP000240080    UP000002277    UP000005207    UP000261340    UP000002320    UP000242638    UP000261360    UP000027135    UP000261480    UP000261500    UP000079721    UP000075920    UP000028760    UP000265080    UP000075883    UP000235965    UP000257200    UP000233160    UP000261420    UP000233220    UP000001073    UP000092461    UP000005640    UP000030759    UP000273346    UP000286642    UP000001038    UP000265200    UP000261680    UP000261620    UP000001519    UP000248482    UP000000715    UP000011518    UP000189704    UP000092124    UP000015104    UP000028990    UP000002494    UP000000589    UP000233020    UP000001595    UP000002852    UP000030765   

PRIDE

H9J069    B4DJZ7    E7EQH1    Q8NFJ9    D4A4U2    Q3V3N7    + More

Pfam

PF14779   BBS1        + More
PF00887   ACBP

Interpro

IPR028784   BBS1        + More
IPR015943   WD40/YVTN_repeat-like_dom_sf       
IPR011047   Quinoprotein_ADH-like_supfam       
IPR032728   BBS1_N       
IPR036322   WD40_repeat_dom_sf       
IPR011044   Quino_amine_DH_bsu       
IPR035984   Acyl-CoA-binding_sf       
IPR014352   FERM/acyl-CoA-bd_prot_sf       
IPR000582   Acyl-CoA-binding_protein       

SUPFAM

SSF50998   SSF50998        + More
SSF50978   SSF50978       
SSF50969   SSF50969       
SSF47027   SSF47027       

Gene 3D

2.130.10.10     1.20.80.10    

CDD

cd00435  ACBP

ProteinModelPortal

H9J069   A0A2A4JB20   A0A2A4JCJ0   A0A2H1W376   A0A3S2MAU0   A0A194QWL4   + More
A0A194Q555   A0A0L7LQI9   A0A087UPH7   A0A182GWW1   A0A1S4FLT6   Q16WI6   A0A3Q3GPE1   A0A182RSM4   A0A3B4ZU67   A0A3Q3JEC1   A0A3Q2XF18   A0A3Q1BHR1   A0A3P8Q4B4   A0A3P9CLH6   A0A3B4GJB6   A0A3Q2WC54   A0A2R9B2R4   A0A2I3TBN5   I3KSH0   A0A2R9B6N6   A0A2I3S237   A0A2R9B2Q9   A0A2R9B6M3   A0A2I3TCH5   K7BAJ5   A0A3Q0SEI3   B0WXE2   A0A3P9MWJ2   A0A3P9MWM1   A0A3B4XX21   A0A0S7GGZ7   A0A3P9DLC4   A0A067RAV1   A0A3B3YNA7   A0A3B3U063   A0A1S3W5U1   A0A182WJ93   Q3TQ82   A0A087YHA2   A0A315VHN2   A0A3B3XAF0   A0A3P8SPG8   A0A182M5X6   A0A2J7R229   A0A3Q1GLI0   A0A1S3W5V4   A0A2K6GLW7   A0A3B4UMK2   A0A2K6ST18   A0A2K6GLV5   M3ZCM3   B4DJZ7   A0A1B0CX97   E7EQH1   A0A2I3GZH0   A0A061IBV1   A0A2K6ST31   A0A3Q7VLS0   H2N1F5   A0A3P9HFF4   Q8NFJ9   A0A384DJN2   A0A3Q7URU4   Q8NFJ9-2   A0A3Q3WIM6   A0A0S7GM05   U6D4R9   A0A2I2Y4U0   A0A2Y9JQ64   M3XVF5   L8Y3M0   A0A1U7T5Q7   A0A1A6HVM5   T1JYJ2   A0A091DBB5   G3RBR0   D4A4U2   Q3V3N7   A0A2J8U023   A0A2K5E441   H2NCR2   M3ZLB9   A0A084WN87   A0A2K5E437  

KEGG

101739624    K16746 Bardet-Biedl syndrome 1 protein | (RefSeq) Bardet-Biedl syndrome 1 protein

GO

GO:0034464   GO:1905515   GO:0016021   GO:0000062   GO:0060028   GO:0060972   GO:0001947   GO:0070121   GO:0008593   GO:0061469   GO:0033339   GO:0032402   GO:0060027   GO:0003341   GO:0001895   GO:0016358   GO:0021766   GO:0042445   GO:0051219   GO:0060296   GO:0001764   GO:0030534   GO:0008104   GO:0045444   GO:0042048   GO:0021756   GO:0021987   GO:0031514   GO:0005102   GO:0044255   GO:0051216   GO:0034451   GO:0009566   GO:0008594   GO:0000226   GO:0021591   GO:0061351   GO:0048854   GO:0007608   GO:0005113   GO:0005813   GO:0005119   GO:0005930   GO:0061512   GO:0036064   GO:0060170   GO:0043001   GO:0005829   GO:0060271   GO:0045494   GO:0001103   GO:0007601   GO:0050896   GO:0035721   GO:0005929  

PANTHER

PTHR20870  

Subcellular location

Cell projection  
Cilium membrane  
Cytoplasm  
Cytoskeleton  
Microtubule organizing center  
Centrosome  
Centriolar satellite  

Length:

182

Number of predicted TMHs:

0

Exp number of AAs in TMHs:

0.03167

Exp number, first 60 AAs:

0.02334

Total prob of N-in:

0.04082

outside

1  -  182

 

 

Pi

15.345473

Theta

142.92085

Tajima's D

-0.391542

CLR

39.100294

CSRT

0.269136543172841

Interpretation

Possibly Positive selection