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Protein

Basal body-orientation factor 1

Gene

BBOF1

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

Functioni

Basal body protein required in multiciliate cells to align and maintain cilia orientation in response to flow. May act by mediating a maturation step that stabilizes and aligns cilia orientation. Not required to respond to planar cell polarity (PCP) or flow-based orientation cues (By similarity).By similarity

GO - Biological processi

Names & Taxonomyi

Protein namesi
Recommended name:
Basal body-orientation factor 1Imported
Alternative name(s):
Coiled-coil domain-containing protein 176
Gene namesi
Name:BBOF1Imported
Synonyms:C14orf45, CCDC176
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 14

Organism-specific databases

EuPathDBiHostDB:ENSG00000119636.15
HGNCiHGNC:19855 BBOF1
neXtProtiNX_Q8ND07

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 projection, Cilium, Cytoplasm, Cytoskeleton

Pathology & Biotechi

Organism-specific databases

DisGeNETi80127
OpenTargetsiENSG00000119636
PharmGKBiPA134886442

Polymorphism and mutation databases

BioMutaiCCDC176
DMDMi134047726

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00002522931 – 529Basal body-orientation factor 1Add BLAST529

Proteomic databases

PaxDbiQ8ND07
PeptideAtlasiQ8ND07
PRIDEiQ8ND07
ProteomicsDBi72971

PTM databases

iPTMnetiQ8ND07
PhosphoSitePlusiQ8ND07

Expressioni

Gene expression databases

BgeeiENSG00000119636
CleanExiHS_C14orf45
ExpressionAtlasiQ8ND07 baseline and differential
GenevisibleiQ8ND07 HS

Organism-specific databases

HPAiHPA003090
HPA003136

Interactioni

Protein-protein interaction databases

BioGridi123128, 1 interactor
STRINGi9606.ENSP00000377577

Structurei

3D structure databases

ProteinModelPortaliQ8ND07
SMRiQ8ND07
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Coiled coil

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Coiled coili85 – 201Sequence analysisAdd BLAST117
Coiled coili271 – 361Sequence analysisAdd BLAST91

Sequence similaritiesi

Belongs to the BBOF1 family.Curated

Keywords - Domaini

Coiled coil

Phylogenomic databases

eggNOGiENOG410IGPZ Eukaryota
ENOG410XQEP LUCA
GeneTreeiENSGT00730000111175
HOGENOMiHOG000082670
HOVERGENiHBG081264
InParanoidiQ8ND07
OMAiKANASLW
OrthoDBiEOG091G0CEE
PhylomeDBiQ8ND07
TreeFamiTF329828

Family and domain databases

InterProiView protein in InterPro
IPR029582 Bbof1
IPR032777 DUF4515
PANTHERiPTHR14845:SF5 PTHR14845:SF5, 1 hit
PfamiView protein in Pfam
PF14988 DUF4515, 1 hit

Sequencei

Sequence statusi: Complete.

Q8ND07-1 [UniParc]FASTAAdd to basket

« Hide

        10         20         30         40         50
MPSKGKDKKK GKSKGKDTKK LIKTDESVVD RAKANASLWE ARLEVTELSR
60 70 80 90 100
IKYRDTSRIL AKSNEDLKKK QCKMEKDIMS VLSYLKKQDQ EKDNMIEKLK
110 120 130 140 150
QQLNETKEKA QEEKDKLEQK YTRQINELEG QFHQKAKEIG MIHTELKAVR
160 170 180 190 200
QFQKRKIQVE RELDDLKENL RNTERIHQET LRRLESRFFE EKHRLEQEAE
210 220 230 240 250
KKIIMLAERA HHEAIVQLND AGRNVFKEND YLQKALAYHL KETDALQKNS
260 270 280 290 300
QKLQESHTLL LHQKEINDLL VKEKIMQLVQ QRSQIQTLQK KVVNLETALS
310 320 330 340 350
YMTKEFESEV LKLQQHAMIE NQAGQVEIDK LQHLLQMKDR EMNRVKKLAK
360 370 380 390 400
NILDERTEVE RFFLDALHQV KQQILISRKH YKQIAQAAFN LKMRAACTGR
410 420 430 440 450
TEYPKIRTFD GREHSTNSVN QDLLEAEKWT HIEGNVDIGD LTWEQKEKVL
460 470 480 490 500
RLLFAKMNGC PSRKYNQSSR PPVPDYVVSD SGETKEFGDE SKLQDKIFIT
510 520
QQIAISDSSG EVVLPTIPKE PQESDTGTF
Length:529
Mass (Da):61,987
Last modified:March 20, 2007 - v3
Checksum:iD08C2C240C52537F
GO

Sequence cautioni

The sequence AAI04980 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated
The sequence AAI04982 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated
The sequence BAB15572 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated
The sequence BC044808 differs from that shown. Reason: Frameshift at positions 428 and 448.Curated

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_05961858R → Q. Corresponds to variant dbSNP:rs3784039Ensembl.1
Natural variantiVAR_059619183R → K. Corresponds to variant dbSNP:rs17182762Ensembl.1
Natural variantiVAR_059620230D → V1 PublicationCorresponds to variant dbSNP:rs3784038Ensembl.1
Natural variantiVAR_027815496K → E. Corresponds to variant dbSNP:rs3742809Ensembl.1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AC005484 Genomic DNA No translation available.
BC044808 mRNA No translation available.
BC104979 mRNA Translation: AAI04980.1 Different initiation.
BC104981 mRNA Translation: AAI04982.1 Different initiation.
AL834487 mRNA Translation: CAD39145.1
AK026842 mRNA Translation: BAB15572.1 Different initiation.
CCDSiCCDS32119.2
RefSeqiNP_079333.2, NM_025057.2
UniGeneiHs.644621

Genome annotation databases

EnsembliENST00000394009; ENSP00000377577; ENSG00000119636
GeneIDi80127
KEGGihsa:80127
UCSCiuc010tup.3 human

Keywords - Coding sequence diversityi

Polymorphism

Similar proteinsi

Entry informationi

Entry nameiBBOF1_HUMAN
AccessioniPrimary (citable) accession number: Q8ND07
Secondary accession number(s): Q0P604, Q9H5P8
Entry historyiIntegrated into UniProtKB/Swiss-Prot: October 3, 2006
Last sequence update: March 20, 2007
Last modified: June 20, 2018
This is version 107 of the entry and version 3 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. Human chromosome 14
    Human chromosome 14: entries, gene names and cross-references to MIM
  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. SIMILARITY comments
    Index of protein domains and families

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