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A8MTZ0

- BBIP1_HUMAN

UniProt

A8MTZ0 - BBIP1_HUMAN

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Protein

BBSome-interacting protein 1

Gene

BBIP1

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- 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. Required for primary cilia assembly and BBSome stability. Regulates cytoplasmic microtubule stability and acetylation.1 Publication

GO - Biological processi

  1. cilium assembly Source: UniProtKB
  2. protein transport Source: UniProtKB-KW
Complete GO annotation...

Keywords - Biological processi

Cilium biogenesis/degradation, Protein transport, Transport

Names & Taxonomyi

Protein namesi
Recommended name:
BBSome-interacting protein 1
Alternative name(s):
BBSome-interacting protein of 10 kDa
Gene namesi
Name:BBIP1
Synonyms:BBIP10, NCRNA00081
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 10

Organism-specific databases

HGNCiHGNC:28093. BBIP1.

Subcellular locationi

Cell projectioncilium 1 Publication. Cytoplasm 1 Publication
Note: Localizes inside the primary cilium but not at centriolar satellites.

GO - Cellular componenti

  1. BBSome Source: UniProtKB
  2. cilium Source: UniProtKB-KW
  3. cytoplasm Source: UniProtKB
Complete GO annotation...

Keywords - Cellular componenti

Cell projection, Cilium, Cytoplasm

Pathology & Biotechi

Involvement in diseasei

Bardet-Biedl syndrome 18 (BBS18) [MIM:209900]: A 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.1 Publication
Note: The disease is caused by mutations affecting the gene represented in this entry.

Keywords - Diseasei

Bardet-Biedl syndrome, Ciliopathy, Obesity

Organism-specific databases

MIMi209900. phenotype.
Orphaneti110. Bardet-Biedl syndrome.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 9292BBSome-interacting protein 1PRO_0000342378Add
BLAST

Proteomic databases

PRIDEiA8MTZ0.

Expressioni

Gene expression databases

BgeeiA8MTZ0.
ExpressionAtlasiA8MTZ0. baseline and differential.
GenevestigatoriA8MTZ0.

Organism-specific databases

HPAiHPA055206.

Interactioni

Subunit structurei

Part of BBSome complex, that contains BBS1, BBS2, BBS4, BBS5, BBS7, BBS8, BBS9 and BBIP10. Interacts with HDAC6.1 Publication

Binary interactionsi

WithEntry#Exp.IntActNotes
BBS4Q96RK43EBI-2892417,EBI-1805814

Protein-protein interaction databases

IntActiA8MTZ0. 6 interactions.

Structurei

3D structure databases

ProteinModelPortaliA8MTZ0.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Belongs to the BBIP10 family.Curated

Phylogenomic databases

GeneTreeiENSGT00690000103902.
HOVERGENiHBG083245.
InParanoidiA8MTZ0.
OMAiPKQGQLS.
OrthoDBiEOG7P02MX.
PhylomeDBiA8MTZ0.

Family and domain databases

InterProiIPR028233. BBIP10.
[Graphical view]
PfamiPF14777. BBIP10. 1 hit.
[Graphical view]

Sequences (4)i

Sequence statusi: Complete.

This entry describes 4 isoformsi produced by alternative splicing. Align

Isoform 1 (identifier: A8MTZ0-1) [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
MLKAAAKRPE LSGKNTISNN SDMAEVKSMF REVLPKQGPL FVEDIMTMVL
60 70 80 90
CKPKLLPLKS LTLEKLEKMH QAAQNTIRQQ EMAEKDQRQI TH
Length:92
Mass (Da):10,506
Last modified:July 1, 2008 - v2
Checksum:i25F2EE32DF0B948D
GO
Isoform 2 (identifier: A8MTZ0-2) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-22: Missing.

Note: No experimental confirmation available.

Show »
Length:70
Mass (Da):8,179
Checksum:iC6E5B03044F1EAA5
GO
Isoform 3 (identifier: A8MTZ0-3) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     14-38: Missing.

Note: No experimental confirmation available.

Show »
Length:67
Mass (Da):7,700
Checksum:iA4ABCD5FA8AEFF71
GO
Isoform 4 (identifier: A8MTZ0-4) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     14-92: KNTISNNSDM...AEKDQRQITH → LLKFNNYGIL...CGRYNDNGAV

Note: No experimental confirmation available.

Show »
Length:103
Mass (Da):11,459
Checksum:i94A2A9987479A937
GO

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei1 – 2222Missing in isoform 2. 1 PublicationVSP_045981Add
BLAST
Alternative sequencei14 – 9279KNTIS…RQITH → LLKFNNYGILSESPLTSQRT TWLLYQSPSFIPGFAYPSRC LKTIGGVYKQARKKHYIQQL RYGRSEVNVPGSSSKARATV CGRYNDNGAV in isoform 4. 1 PublicationVSP_046433Add
BLAST
Alternative sequencei14 – 3825Missing in isoform 3. 1 PublicationVSP_046434Add
BLAST

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
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.
CCDSiCCDS55726.1. [A8MTZ0-3]
CCDS55727.1. [A8MTZ0-1]
CCDS55728.1. [A8MTZ0-4]
CCDS58094.1. [A8MTZ0-2]
RefSeqiNP_001182233.1. NM_001195304.1. [A8MTZ0-4]
NP_001182234.1. NM_001195305.1. [A8MTZ0-1]
NP_001182235.1. NM_001195306.1. [A8MTZ0-1]
NP_001182236.1. NM_001195307.1. [A8MTZ0-3]
NP_001230712.1. NM_001243783.1. [A8MTZ0-2]
UniGeneiHs.232543.
Hs.651480.

Genome annotation databases

EnsembliENST00000423273; 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]
GeneIDi92482.
KEGGihsa:92482.
UCSCiuc001kzj.3. human. [A8MTZ0-1]

Keywords - Coding sequence diversityi

Alternative splicing

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
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.
CCDSi CCDS55726.1. [A8MTZ0-3 ]
CCDS55727.1. [A8MTZ0-1 ]
CCDS55728.1. [A8MTZ0-4 ]
CCDS58094.1. [A8MTZ0-2 ]
RefSeqi NP_001182233.1. NM_001195304.1. [A8MTZ0-4 ]
NP_001182234.1. NM_001195305.1. [A8MTZ0-1 ]
NP_001182235.1. NM_001195306.1. [A8MTZ0-1 ]
NP_001182236.1. NM_001195307.1. [A8MTZ0-3 ]
NP_001230712.1. NM_001243783.1. [A8MTZ0-2 ]
UniGenei Hs.232543.
Hs.651480.

3D structure databases

ProteinModelPortali A8MTZ0.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

IntActi A8MTZ0. 6 interactions.

Proteomic databases

PRIDEi A8MTZ0.

Protocols and materials databases

Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000423273 ; 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 ]
GeneIDi 92482.
KEGGi hsa:92482.
UCSCi uc001kzj.3. human. [A8MTZ0-1 ]

Organism-specific databases

CTDi 92482.
GeneCardsi GC10M112658.
HGNCi HGNC:28093. BBIP1.
HPAi HPA055206.
MIMi 209900. phenotype.
613605. gene.
neXtProti NX_A8MTZ0.
Orphaneti 110. Bardet-Biedl syndrome.
GenAtlasi Search...

Phylogenomic databases

GeneTreei ENSGT00690000103902.
HOVERGENi HBG083245.
InParanoidi A8MTZ0.
OMAi PKQGQLS.
OrthoDBi EOG7P02MX.
PhylomeDBi A8MTZ0.

Miscellaneous databases

GenomeRNAii 92482.
NextBioi 77766.
PROi A8MTZ0.
SOURCEi Search...

Gene expression databases

Bgeei A8MTZ0.
ExpressionAtlasi A8MTZ0. baseline and differential.
Genevestigatori A8MTZ0.

Family and domain databases

InterProi IPR028233. BBIP10.
[Graphical view ]
Pfami PF14777. BBIP10. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  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.
    , 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.
    , 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.
  5. "Exome sequencing of Bardet-Biedl syndrome patient identifies a null mutation in the BBSome subunit BBIP1 (BBS18)."
    Scheidecker S., Etard C., Pierce N.W., Geoffroy V., Schaefer E., Muller J., Chennen K., Flori E., Pelletier V., Poch O., Marion V., Stoetzel C., Straehle U., Nachury M.V., Dollfus H.
    J. Med. Genet. 51:132-136(2014) [PubMed] [Europe PMC] [Abstract]
    Cited for: INVOLVEMENT IN BBS18.

Entry informationi

Entry nameiBBIP1_HUMAN
AccessioniPrimary (citable) accession number: A8MTZ0
Secondary accession number(s): E9PIY9, E9PM41, E9PRI7
Entry historyi
Integrated into UniProtKB/Swiss-Prot: July 1, 2008
Last sequence update: July 1, 2008
Last modified: October 29, 2014
This is version 48 of the entry and version 2 of the sequence. [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. Human chromosome 10
    Human chromosome 10: entries, gene names and cross-references to MIM
  2. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  3. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3