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Protein

Protein Flattop

Gene

CFAP126

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 3 out of 5-Experimental evidence at transcript leveli

Functioni

Acts as a regulator of cilium basal body docking and positioning in mono- and multiciliated cells. Regulates basal body docking and cilia formation in multiciliated lung cells. Regulates kinocilium positioning and stereocilia bundle morphogenesis in the inner ear.By similarity

GO - Biological processi

Complete GO annotation...

Keywords - Biological processi

Cilium biogenesis/degradation

Enzyme and pathway databases

BioCyciZFISH:G66-31963-MONOMER.

Names & Taxonomyi

Protein namesi
Recommended name:
Protein FlattopCurated
Alternative name(s):
Cilia- and flagella-associated protein 126Imported
Gene namesi
Name:CFAP126Imported
Synonyms:C1orf192Imported, FLTPBy similarity
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 1

Organism-specific databases

HGNCiHGNC:32325. CFAP126.

Subcellular locationi

  • Cytoplasmcytoskeletoncilium basal body By similarity
  • Cell projectioncilium By similarity
  • Apical cell membrane By similarity

  • Note: Localizes to the apical cell membrane, the basal body and the primary cilium in monociliated node cells.By similarity

GO - Cellular componenti

Complete GO annotation...

Keywords - Cellular componenti

Cell membrane, Cell projection, Cytoplasm, Cytoskeleton, Membrane

Pathology & Biotechi

Organism-specific databases

DisGeNETi257177.
OpenTargetsiENSG00000188931.
PharmGKBiPA142672403.

Polymorphism and mutation databases

DMDMi74746942.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00003169721 – 177Protein FlattopAdd BLAST177

Proteomic databases

PaxDbiQ5VTH2.
PeptideAtlasiQ5VTH2.
PRIDEiQ5VTH2.

PTM databases

iPTMnetiQ5VTH2.
PhosphoSitePlusiQ5VTH2.

Expressioni

Gene expression databases

BgeeiENSG00000188931.
CleanExiHS_C1orf192.
GenevisibleiQ5VTH2. HS.

Organism-specific databases

HPAiHPA045904.

Interactioni

Subunit structurei

Interacts with DLG3.By similarity

Protein-protein interaction databases

STRINGi9606.ENSP00000356951.

Structurei

3D structure databases

ProteinModelPortaliQ5VTH2.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Belongs to the Flattop family.Curated

Phylogenomic databases

eggNOGiENOG410J0RM. Eukaryota.
ENOG41129F8. LUCA.
GeneTreeiENSGT00390000001092.
HOGENOMiHOG000111270.
HOVERGENiHBG059083.
InParanoidiQ5VTH2.
OMAiQARSPTI.
OrthoDBiEOG091G0SJX.
PhylomeDBiQ5VTH2.
TreeFamiTF329474.

Sequencei

Sequence statusi: Complete.

Q5VTH2-1 [UniParc]FASTAAdd to basket

« Hide

        10         20         30         40         50
MATNYSANQY EKAFSSKYLQ NWSPTKPTKE SISSHEGYTQ IIANDRGHLL
60 70 80 90 100
PSVPRSKANP WGSFMGTWQM PLKIPPARVT LTSRTTAGAA SLTKWIQKNP
110 120 130 140 150
DLLKASNGLC PEILGKPHDP DSQKKLRKKS ITKTVQQARS PTIIPSSPAA
160 170
NLNSPDELQS SHPSAGHTPG PQRPAKS
Length:177
Mass (Da):19,293
Last modified:December 7, 2004 - v1
Checksum:i3D50FC792F5A8AF9
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti37G → A in BU688150 (PubMed:8889548).Curated1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AL592295 Genomic DNA. Translation: CAH70272.1.
BU688150 mRNA. No translation available.
CCDSiCCDS30921.1.
RefSeqiNP_001013647.2. NM_001013625.3.
UniGeneiHs.534593.

Genome annotation databases

EnsembliENST00000367974; ENSP00000356951; ENSG00000188931.
GeneIDi257177.
KEGGihsa:257177.
UCSCiuc001gal.5. human.

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AL592295 Genomic DNA. Translation: CAH70272.1.
BU688150 mRNA. No translation available.
CCDSiCCDS30921.1.
RefSeqiNP_001013647.2. NM_001013625.3.
UniGeneiHs.534593.

3D structure databases

ProteinModelPortaliQ5VTH2.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

STRINGi9606.ENSP00000356951.

PTM databases

iPTMnetiQ5VTH2.
PhosphoSitePlusiQ5VTH2.

Polymorphism and mutation databases

DMDMi74746942.

Proteomic databases

PaxDbiQ5VTH2.
PeptideAtlasiQ5VTH2.
PRIDEiQ5VTH2.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000367974; ENSP00000356951; ENSG00000188931.
GeneIDi257177.
KEGGihsa:257177.
UCSCiuc001gal.5. human.

Organism-specific databases

CTDi257177.
DisGeNETi257177.
GeneCardsiCFAP126.
HGNCiHGNC:32325. CFAP126.
HPAiHPA045904.
MIMi616119. gene.
neXtProtiNX_Q5VTH2.
OpenTargetsiENSG00000188931.
PharmGKBiPA142672403.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410J0RM. Eukaryota.
ENOG41129F8. LUCA.
GeneTreeiENSGT00390000001092.
HOGENOMiHOG000111270.
HOVERGENiHBG059083.
InParanoidiQ5VTH2.
OMAiQARSPTI.
OrthoDBiEOG091G0SJX.
PhylomeDBiQ5VTH2.
TreeFamiTF329474.

Enzyme and pathway databases

BioCyciZFISH:G66-31963-MONOMER.

Miscellaneous databases

ChiTaRSiC1orf192. human.
GenomeRNAii257177.
PROiQ5VTH2.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000188931.
CleanExiHS_C1orf192.
GenevisibleiQ5VTH2. HS.

Family and domain databases

ProtoNetiSearch...

Entry informationi

Entry nameiFLTOP_HUMAN
AccessioniPrimary (citable) accession number: Q5VTH2
Entry historyi
Integrated into UniProtKB/Swiss-Prot: February 5, 2008
Last sequence update: December 7, 2004
Last modified: November 30, 2016
This is version 78 of the entry and version 1 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 1
    Human chromosome 1: 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

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.