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A8MTZ0 (BBIP1_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified April 16, 2014. Version 42. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (3) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Interactions·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
BBSome-interacting protein 1
Alternative name(s):
BBSome-interacting protein of 10 kDa
Gene names
Name:BBIP1
Synonyms:BBIP10, NCRNA00081
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length92 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

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 primary cilia assembly and BBSome stability. Regulates cytoplasmic microtubule stability and acetylation. Ref.4

Subunit structure

Part of BBSome complex, that contains BBS1, BBS2, BBS4, BBS5, BBS7, BBS8, BBS9 and BBIP10. Interacts with HDAC6. Ref.4

Subcellular location

Cell projectioncilium. Cytoplasm. Note: Localizes inside the primary cilium but not at centriolar satellites. Ref.4

Sequence similarities

Belongs to the BBIP10 family.

Caution

Was previously thought to be non-coding and described as "non-protein coding RNA 81", abbreviated NCRNA00081.

Ontologies

Keywords
   Biological processCilium biogenesis/degradation
Protein transport
Transport
   Cellular componentCell projection
Cilium
Cytoplasm
   Coding sequence diversityAlternative splicing
   Technical termComplete proteome
Reference proteome
Gene Ontology (GO)
   Biological_processcilium assembly

Inferred from mutant phenotype PubMed 19081074. Source: UniProtKB

protein transport

Inferred from electronic annotation. Source: UniProtKB-KW

   Cellular_componentBBSome

Inferred from direct assay PubMed 19081074. Source: UniProtKB

cilium

Inferred from electronic annotation. Source: UniProtKB-SubCell

cytoplasm

Inferred from direct assay PubMed 19081074. Source: UniProtKB

Complete GO annotation...

Binary interactions

With

Entry

#Exp.

IntAct

Notes

BBS4Q96RK43EBI-2892417,EBI-1805814

Alternative products

This entry describes 4 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: A8MTZ0-1)

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.
Isoform 2 (identifier: A8MTZ0-2)

The sequence of this isoform differs from the canonical sequence as follows:
     1-22: Missing.
Note: No experimental confirmation available.
Isoform 3 (identifier: A8MTZ0-3)

The sequence of this isoform differs from the canonical sequence as follows:
     14-38: Missing.
Note: No experimental confirmation available.
Isoform 4 (identifier: A8MTZ0-4)

The sequence of this isoform differs from the canonical sequence as follows:
     14-92: KNTISNNSDM...AEKDQRQITH → LLKFNNYGIL...CGRYNDNGAV
Note: No experimental confirmation available.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 9292BBSome-interacting protein 1
PRO_0000342378

Natural variations

Alternative sequence1 – 2222Missing in isoform 2.
VSP_045981
Alternative sequence14 – 9279KNTIS…RQITH → LLKFNNYGILSESPLTSQRT TWLLYQSPSFIPGFAYPSRC LKTIGGVYKQARKKHYIQQL RYGRSEVNVPGSSSKARATV CGRYNDNGAV in isoform 4.
VSP_046433
Alternative sequence14 – 3825Missing in isoform 3.
VSP_046434

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 [UniParc].

Last modified July 1, 2008. Version 2.
Checksum: 25F2EE32DF0B948D

FASTA9210,506
        10         20         30         40         50         60 
MLKAAAKRPE LSGKNTISNN SDMAEVKSMF REVLPKQGPL FVEDIMTMVL CKPKLLPLKS 

        70         80         90 
LTLEKLEKMH QAAQNTIRQQ EMAEKDQRQI TH 

« Hide

Isoform 2 [UniParc].

Checksum: C6E5B03044F1EAA5
Show »

FASTA708,179
Isoform 3 [UniParc].

Checksum: A4ABCD5FA8AEFF71
Show »

FASTA677,700
Isoform 4 [UniParc].

Checksum: 94A2A9987479A937
Show »

FASTA10311,459

References

« Hide 'large scale' references
[1]"Complete sequencing and characterization of 21,243 full-length human cDNAs."
Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S. expand/collapse author list , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1; 3 AND 4).
Tissue: Fetal brain and Testis.
[2]"The DNA sequence and comparative analysis of human chromosome 10."
Deloukas P., Earthrowl M.E., Grafham D.V., Rubenfield M., French L., Steward C.A., Sims S.K., Jones M.C., Searle S., Scott C., Howe K., Hunt S.E., Andrews T.D., Gilbert J.G.R., Swarbreck D., Ashurst J.L., Taylor A., Battles J. expand/collapse author list , Bird C.P., Ainscough R., Almeida J.P., Ashwell R.I.S., Ambrose K.D., Babbage A.K., Bagguley C.L., Bailey J., Banerjee R., Bates K., Beasley H., Bray-Allen S., Brown A.J., Brown J.Y., Burford D.C., Burrill W., Burton J., Cahill P., Camire D., Carter N.P., Chapman J.C., Clark S.Y., Clarke G., Clee C.M., Clegg S., Corby N., Coulson A., Dhami P., Dutta I., Dunn M., Faulkner L., Frankish A., Frankland J.A., Garner P., Garnett J., Gribble S., Griffiths C., Grocock R., Gustafson E., Hammond S., Harley J.L., Hart E., Heath P.D., Ho T.P., Hopkins B., Horne J., Howden P.J., Huckle E., Hynds C., Johnson C., Johnson D., Kana A., Kay M., Kimberley A.M., Kershaw J.K., Kokkinaki M., Laird G.K., Lawlor S., Lee H.M., Leongamornlert D.A., Laird G., Lloyd C., Lloyd D.M., Loveland J., Lovell J., McLaren S., McLay K.E., McMurray A., Mashreghi-Mohammadi M., Matthews L., Milne S., Nickerson T., Nguyen M., Overton-Larty E., Palmer S.A., Pearce A.V., Peck A.I., Pelan S., Phillimore B., Porter K., Rice C.M., Rogosin A., Ross M.T., Sarafidou T., Sehra H.K., Shownkeen R., Skuce C.D., Smith M., Standring L., Sycamore N., Tester J., Thorpe A., Torcasso W., Tracey A., Tromans A., Tsolas J., Wall M., Walsh J., Wang H., Weinstock K., West A.P., Willey D.L., Whitehead S.L., Wilming L., Wray P.W., Young L., Chen Y., Lovering R.C., Moschonas N.K., Siebert R., Fechtel K., Bentley D., Durbin R.M., Hubbard T., Doucette-Stamm L., Beck S., Smith D.R., Rogers J.
Nature 429:375-381(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[3]"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
The MGC Project Team
Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 2).
Tissue: Bone marrow.
[4]"A BBSome subunit links ciliogenesis, microtubule stability and acetylation."
Loktev A.V., Zhang Q., Beck J.S., Searby C.C., Scheetz T.E., Bazan F., Slusarski D.C., Sheffield V.C., Jackson P.K., Nachury M.V.
Dev. Cell 15:854-865(2008)
Cited for: IDENTIFICATION BY MASS SPECTROMETRY, FUNCTION, SUBCELLULAR LOCATION, SUBUNIT, INTERACTION WITH HDAC6.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
AK307126 mRNA. No translation available.
AK307314 mRNA. No translation available.
DA520878 mRNA. No translation available.
AL158163 Genomic DNA. No translation available.
BC015550 mRNA. No translation available.
BU189144 mRNA. No translation available.
RefSeqNP_001182233.1. NM_001195304.1.
NP_001182234.1. NM_001195305.1.
NP_001182235.1. NM_001195306.1.
NP_001182236.1. NM_001195307.1.
NP_001230712.1. NM_001243783.1.
UniGeneHs.232543.
Hs.651480.

3D structure databases

ProteinModelPortalA8MTZ0.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

IntActA8MTZ0. 6 interactions.

Proteomic databases

PRIDEA8MTZ0.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000423273; ENSP00000432274; ENSG00000214413. [A8MTZ0-3]
ENST00000436562; ENSP00000431936; ENSG00000214413. [A8MTZ0-2]
ENST00000447005; ENSP00000432849; ENSG00000214413. [A8MTZ0-2]
ENST00000448814; ENSP00000436622; ENSG00000214413. [A8MTZ0-1]
ENST00000454061; ENSP00000433157; ENSG00000214413. [A8MTZ0-4]
ENST00000605742; ENSP00000474675; ENSG00000214413. [A8MTZ0-1]
GeneID92482.
KEGGhsa:92482.
UCSCuc001kzj.3. human. [A8MTZ0-1]

Organism-specific databases

CTD92482.
GeneCardsGC10M112658.
HGNCHGNC:28093. BBIP1.
HPAHPA055206.
MIM613605. gene.
neXtProtNX_A8MTZ0.
GenAtlasSearch...

Phylogenomic databases

HOVERGENHBG083245.
InParanoidA8MTZ0.
OMAPKQGQLS.
OrthoDBEOG7P02MX.
PhylomeDBA8MTZ0.

Gene expression databases

ArrayExpressA8MTZ0.
BgeeA8MTZ0.
GenevestigatorA8MTZ0.

Family and domain databases

InterProIPR028233. BBIP10.
[Graphical view]
PfamPF14777. BBIP10. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

GenomeRNAi92482.
NextBio77766.
PROA8MTZ0.
SOURCESearch...

Entry information

Entry nameBBIP1_HUMAN
AccessionPrimary (citable) accession number: A8MTZ0
Secondary accession number(s): E9PIY9, E9PM41, E9PRI7
Entry history
Integrated into UniProtKB/Swiss-Prot: July 1, 2008
Last sequence update: July 1, 2008
Last modified: April 16, 2014
This is version 42 of the entry and version 2 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human chromosome 10

Human chromosome 10: entries, gene names and cross-references to MIM