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MGP006284

Record overview

MGPD IDMGP006284
Gene ID92482
SpeciesHomo sapiens (Human)
Gene NameBBSome interacting protein 1
Gene Symbol BBIP1
SynonymsBBS18; BBIP10; bA348N5.3; NCRNA00081;
Alternate namesBBSome-interacting protein 1; BBSome-interacting protein of 10 kDa; UPF0604 protein;
Chromosome10
Map Location10q25.2
SummaryThis gene encodes one of eight proteins that form the BBSome complex and is essential for its assembly. The BBSome complex is involved in trafficking signal receptors to and from the cilia. Mutations in this gene result in Bardet-Biedl syndrome 18. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2014]
OrthologsView orthologs and multiple alignments for BBIP1

Proteins

BBSome-interacting protein 1 isoform 1
Refseq ID:NP_001182233
Protein GI:305855070
UniProt ID:A8MTZ0
mRNA ID:NM_001195304
Length:103
RefSeq Status:
MLKAAAKRPELSGLLKFNNYGILSESPLTSQRTTWLLYQSPSFIPGFAYPSRCLKTIGGVYKQARKKHYIQQLRYGRSEVNVPGSSSKARATVCGRYNDN
GAV
 
BBSome-interacting protein 1 isoform 2
Refseq ID:NP_001182234
Protein GI:305855072
UniProt ID:A8MTZ0
mRNA ID:NM_001195305
Length:92
RefSeq Status:
MLKAAAKRPELSGKNTISNNSDMAEVKSMFREVLPKQGPLFVEDIMTMVLCKPKLLPLKSLTLEKLEKMHQAAQNTIRQQEMAEKDQRQITH
 
BBSome-interacting protein 1 isoform 2
Refseq ID:NP_001182235
Protein GI:305855074
UniProt ID:A8MTZ0
mRNA ID:NM_001195306
Length:92
RefSeq Status:
Protein sequence is identical to GI:305855072 (mRNA isoform)
 
BBSome-interacting protein 1 isoform 3
Refseq ID:NP_001182236
Protein GI:305855076
UniProt ID:A8MTZ0
mRNA ID:NM_001195307
Length:67
RefSeq Status:
MLKAAAKRPELSGPLFVEDIMTMVLCKPKLLPLKSLTLEKLEKMHQAAQNTIRQQEMAEKDQRQITH
 
BBSome-interacting protein 1 isoform 4
Refseq ID:NP_001230712
Protein GI:344925840
UniProt ID:A8MTZ0
mRNA ID:NM_001243783
Length:70
RefSeq Status:
MAEVKSMFREVLPKQGPLFVEDIMTMVLCKPKLLPLKSLTLEKLEKMHQAAQNTIRQQEMAEKDQRQITH
 
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