Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.
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

Keywordsi

Biological processCilium biogenesis/degradation

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

EuPathDBiHostDB:ENSG00000188931.3.
HGNCiHGNC:32325. CFAP126.

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 membrane, Cell projection, Cytoplasm, Cytoskeleton, Membrane

Pathology & Biotechi

Organism-specific databases

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. No translation available.
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.

Similar proteinsi

Entry informationi

Entry nameiFLTOP_HUMAN
AccessioniPrimary (citable) accession number: Q5VTH2
Entry historyiIntegrated into UniProtKB/Swiss-Prot: February 5, 2008
Last sequence update: December 7, 2004
Last modified: September 27, 2017
This is version 83 of the entry and version 1 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 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