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Protein

Cilia- and flagella-associated protein 53

Gene

CFAP53

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 4 out of 5-Experimental evidence at protein leveli

Functioni

GO - Biological processi

Complete GO annotation...

Enzyme and pathway databases

BioCyciZFISH:ENSG00000172361-MONOMER.

Names & Taxonomyi

Protein namesi
Recommended name:
Cilia- and flagella-associated protein 53Imported
Alternative name(s):
Coiled-coil domain-containing protein 11Imported
Gene namesi
Name:CFAP53Imported
Synonyms:CCDC11Imported
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 18

Organism-specific databases

HGNCiHGNC:26530. CFAP53.

Subcellular locationi

GO - Cellular componenti

  • cilium Source: UniProtKB-SubCell
Complete GO annotation...

Keywords - Cellular componenti

Cell projection

Pathology & Biotechi

Involvement in diseasei

Heterotaxy, visceral, 6, autosomal (HTX6)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA form of visceral heterotaxy, a complex disorder due to disruption of the normal left-right asymmetry of the thoracoabdominal organs. Visceral heterotaxy or situs ambiguus results in randomization of the placement of visceral organs, including the heart, lungs, liver, spleen, and stomach. The organs are oriented randomly with respect to the left-right axis and with respect to one another. It can been associated with variety of congenital defects including cardiac malformations. HTX6 clinical features are situs inversus totalis and severe complex cardiac malformations including unbalanced atrioventricular canal defects, transposition of the great arteries with severe pulmonary stenosis, right aortic arch, abnormal systemic venous return and total anomalous pulmonary venous drainage.
See also OMIM:614779

Keywords - Diseasei

Heterotaxy

Organism-specific databases

DisGeNETi220136.
MIMi614779. phenotype.
OpenTargetsiENSG00000172361.
Orphaneti157769. Situs ambiguus.
101063. Situs inversus totalis.
PharmGKBiPA134960690.

Polymorphism and mutation databases

BioMutaiCCDC11.
DMDMi118572626.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000894071 – 514Cilia- and flagella-associated protein 53Add BLAST514

Proteomic databases

EPDiQ96M91.
PaxDbiQ96M91.
PeptideAtlasiQ96M91.
PRIDEiQ96M91.

PTM databases

iPTMnetiQ96M91.
PhosphoSitePlusiQ96M91.

Expressioni

Tissue specificityi

Expressed in skin fibroblasts (at protein level).1 Publication

Gene expression databases

BgeeiENSG00000172361.
CleanExiHS_CCDC11.
GenevisibleiQ96M91. HS.

Organism-specific databases

HPAiHPA040595.
HPA041069.

Interactioni

Binary interactionsi

WithEntry#Exp.IntActNotes
CBY1Q9Y3M23EBI-742422,EBI-947308
CEP70Q8NHQ13EBI-742422,EBI-739624
HMG20AQ9NP663EBI-742422,EBI-740641
PNMA1Q8ND903EBI-742422,EBI-302345
TNIP1Q150253EBI-742422,EBI-357849
TRIM23P364063EBI-742422,EBI-740098

Protein-protein interaction databases

BioGridi128633. 9 interactors.
IntActiQ96M91. 18 interactors.
MINTiMINT-1484230.
STRINGi9606.ENSP00000381553.

Structurei

3D structure databases

ProteinModelPortaliQ96M91.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Coiled coil

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Coiled coili91 – 148Sequence analysisAdd BLAST58
Coiled coili203 – 474Sequence analysisAdd BLAST272

Sequence similaritiesi

Belongs to the CFAP53 family.Curated

Keywords - Domaini

Coiled coil

Phylogenomic databases

eggNOGiENOG410IFT8. Eukaryota.
ENOG410Y53F. LUCA.
GeneTreeiENSGT00730000111221.
HOGENOMiHOG000111401.
HOVERGENiHBG081036.
InParanoidiQ96M91.
OMAiKQKREDM.
OrthoDBiEOG091G0BHQ.
PhylomeDBiQ96M91.
TreeFamiTF329393.

Family and domain databases

InterProiIPR033365. CFAP53.
[Graphical view]
PANTHERiPTHR31183:SF1. PTHR31183:SF1. 1 hit.

Sequencei

Sequence statusi: Complete.

Q96M91-1 [UniParc]FASTAAdd to basket

« Hide

        10         20         30         40         50
MYSQRFGTVQ REVKGPTPKV VIVRSKPPKG QGAEHHLERI RRSHQKHNAI
60 70 80 90 100
LASIKSSERD RLKAEWDQHN DCKILDSLVR ARIKDAVQGF IINIEERRNK
110 120 130 140 150
LRELLALEEN EYFTEMQLKK ETIEEKKDRM REKTKLLKEK NEKERQDFVA
160 170 180 190 200
EKLDQQFRER CEELRVELLS IHQKKVCEER KAQIAFNEEL SRQKLVEEQM
210 220 230 240 250
FSKLWEEDRL AKEKREAQEA RRQKELMENT RLGLNAQITS IKAQRQATQL
260 270 280 290 300
LKEEEARLVE SNNAQIKHEN EQDMLKKQKA KQETRTILQK ALQERIEHIQ
310 320 330 340 350
QEYRDEQDLN MKLVQRALQD LQEEADKKKQ KREDMIREQK IYHKYLAQRR
360 370 380 390 400
EEEKAQEKEF DRILEEDKAK KLAEKDKELR LEKEARRQLV DEVMCTRKLQ
410 420 430 440 450
VQEKLQREAK EQEERAMEQK HINESLKELN CEEKENFARR QRLAQEYRKQ
460 470 480 490 500
LQMQIAYQQQ SQEAEKEEKR REFEAGVAAN KMCLDKVQEV LSTHQVLPQN
510
IHPMRKACPS KLPP
Length:514
Mass (Da):61,835
Last modified:November 28, 2006 - v2
Checksum:i50D8D72F26D227E3
GO

Sequence cautioni

The sequence BAB71418 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_050746231R → C.Corresponds to variant rs12607385dbSNPEnsembl.1
Natural variantiVAR_050747294E → K.1 PublicationCorresponds to variant rs35193847dbSNPEnsembl.1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK057305 mRNA. Translation: BAB71418.1. Different initiation.
AK302114 mRNA. Translation: BAG63493.1.
BC030606 mRNA. Translation: AAH30606.2.
CCDSiCCDS11940.2.
RefSeqiNP_659457.2. NM_145020.4.
UniGeneiHs.658630.

Genome annotation databases

EnsembliENST00000398545; ENSP00000381553; ENSG00000172361.
GeneIDi220136.
KEGGihsa:220136.
UCSCiuc002lee.4. human.

Keywords - Coding sequence diversityi

Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK057305 mRNA. Translation: BAB71418.1. Different initiation.
AK302114 mRNA. Translation: BAG63493.1.
BC030606 mRNA. Translation: AAH30606.2.
CCDSiCCDS11940.2.
RefSeqiNP_659457.2. NM_145020.4.
UniGeneiHs.658630.

3D structure databases

ProteinModelPortaliQ96M91.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi128633. 9 interactors.
IntActiQ96M91. 18 interactors.
MINTiMINT-1484230.
STRINGi9606.ENSP00000381553.

PTM databases

iPTMnetiQ96M91.
PhosphoSitePlusiQ96M91.

Polymorphism and mutation databases

BioMutaiCCDC11.
DMDMi118572626.

Proteomic databases

EPDiQ96M91.
PaxDbiQ96M91.
PeptideAtlasiQ96M91.
PRIDEiQ96M91.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000398545; ENSP00000381553; ENSG00000172361.
GeneIDi220136.
KEGGihsa:220136.
UCSCiuc002lee.4. human.

Organism-specific databases

CTDi220136.
DisGeNETi220136.
GeneCardsiCFAP53.
HGNCiHGNC:26530. CFAP53.
HPAiHPA040595.
HPA041069.
MIMi614759. gene.
614779. phenotype.
neXtProtiNX_Q96M91.
OpenTargetsiENSG00000172361.
Orphaneti157769. Situs ambiguus.
101063. Situs inversus totalis.
PharmGKBiPA134960690.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410IFT8. Eukaryota.
ENOG410Y53F. LUCA.
GeneTreeiENSGT00730000111221.
HOGENOMiHOG000111401.
HOVERGENiHBG081036.
InParanoidiQ96M91.
OMAiKQKREDM.
OrthoDBiEOG091G0BHQ.
PhylomeDBiQ96M91.
TreeFamiTF329393.

Enzyme and pathway databases

BioCyciZFISH:ENSG00000172361-MONOMER.

Miscellaneous databases

ChiTaRSiCCDC11. human.
GenomeRNAii220136.
PROiQ96M91.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000172361.
CleanExiHS_CCDC11.
GenevisibleiQ96M91. HS.

Family and domain databases

InterProiIPR033365. CFAP53.
[Graphical view]
PANTHERiPTHR31183:SF1. PTHR31183:SF1. 1 hit.
ProtoNetiSearch...

Entry informationi

Entry nameiCFA53_HUMAN
AccessioniPrimary (citable) accession number: Q96M91
Secondary accession number(s): B4DXT1
Entry historyi
Integrated into UniProtKB/Swiss-Prot: March 15, 2005
Last sequence update: November 28, 2006
Last modified: November 30, 2016
This is version 107 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 18
    Human chromosome 18: 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. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. 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.