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Protein

Intraflagellar transport protein 52 homolog

Gene

IFT52

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

Functioni

Involved in ciliogenesis as part of a complex involved in intraflagellar transport (IFT), the bi-directional movement of particles required for the assembly, maintenance and functioning of primary cilia (PubMed:27466190). Required for the anterograde transport of IFT88 (PubMed:27466190).1 Publication

GO - Molecular functioni

GO - Biological processi

Keywordsi

Biological processCilium biogenesis/degradation

Enzyme and pathway databases

ReactomeiR-HSA-5610787 Hedgehog 'off' state
R-HSA-5620924 Intraflagellar transport

Names & Taxonomyi

Protein namesi
Recommended name:
Intraflagellar transport protein 52 homolog
Alternative name(s):
Protein NGD5 homolog
Gene namesi
Name:IFT52
Synonyms:C20orf9, NGD5
ORF Names:CGI-53
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 20

Organism-specific databases

EuPathDBiHostDB:ENSG00000101052.12
HGNCiHGNC:15901 IFT52
MIMi617094 gene
neXtProtiNX_Q9Y366

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

Pathology & Biotechi

Involvement in diseasei

Short-rib thoracic dysplasia 16 with or without polydactyly (SRTD16)2 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA form of short-rib thoracic dysplasia, a group of autosomal recessive ciliopathies that are characterized by a constricted thoracic cage, short ribs, shortened tubular bones, and a 'trident' appearance of the acetabular roof. Polydactyly is variably present. Non-skeletal involvement can include cleft lip/palate as well as anomalies of major organs such as the brain, eye, heart, kidneys, liver, pancreas, intestines, and genitalia. Some forms of the disease are lethal in the neonatal period due to respiratory insufficiency secondary to a severely restricted thoracic cage, whereas others are compatible with life. Disease spectrum encompasses Ellis-van Creveld syndrome, asphyxiating thoracic dystrophy (Jeune syndrome), Mainzer-Saldino syndrome, and short rib-polydactyly syndrome.
See also OMIM:617102
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_077805199A → T in SRTD16. 1 PublicationCorresponds to variant dbSNP:rs886037869EnsemblClinVar.1

Keywords - Diseasei

Ciliopathy, Disease mutation

Organism-specific databases

DisGeNETi51098
MalaCardsiIFT52
MIMi617102 phenotype
OpenTargetsiENSG00000101052
Orphaneti1515 Cranioectodermal dysplasia
PharmGKBiPA25796

Polymorphism and mutation databases

BioMutaiIFT52
DMDMi116242524

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000841671 – 437Intraflagellar transport protein 52 homologAdd BLAST437

Proteomic databases

EPDiQ9Y366
MaxQBiQ9Y366
PaxDbiQ9Y366
PeptideAtlasiQ9Y366
PRIDEiQ9Y366
ProteomicsDBi85977

PTM databases

iPTMnetiQ9Y366
PhosphoSitePlusiQ9Y366

Expressioni

Gene expression databases

BgeeiENSG00000101052 Expressed in 203 organ(s), highest expression level in testis
CleanExiHS_IFT52
GenevisibleiQ9Y366 HS

Organism-specific databases

HPAiHPA063367
HPA067423

Interactioni

Subunit structurei

Component of the IFT complex B, at least composed of IFT20, IFT22, HSPB11/IFT25, IFT27, IFT46, IFT52, TRAF3IP1/IFT54, IFT57, IFT74, IFT80, IFT81, and IFT88. Interacts with IFT88 (By similarity). Interacts with TTC25 (PubMed:25860617).By similarity1 Publication

GO - Molecular functioni

Protein-protein interaction databases

BioGridi119287, 27 interactors
CORUMiQ9Y366
IntActiQ9Y366, 16 interactors
STRINGi9606.ENSP00000362121

Structurei

3D structure databases

ProteinModelPortaliQ9Y366
SMRiQ9Y366
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi348 – 351Poly-Pro4

Phylogenomic databases

eggNOGiKOG3861 Eukaryota
ENOG410XPGR LUCA
GeneTreeiENSGT00390000011581
HOVERGENiHBG023562
InParanoidiQ9Y366
KOiK19681
OMAiLGSGYIW
OrthoDBiEOG091G074U
PhylomeDBiQ9Y366
TreeFamiTF105916

Family and domain databases

InterProiView protein in InterPro
IPR019196 ABC_transp_unknown
IPR039975 IFT52
PANTHERiPTHR12969 PTHR12969, 1 hit
PfamiView protein in Pfam
PF09822 ABC_transp_aux, 1 hit

Sequencei

Sequence statusi: Complete.

Q9Y366-1 [UniParc]FASTAAdd to basket
« Hide
        10         20         30         40         50
MEKELRSTIL FNAYKKEIFT TNNGYKSMQK KLRSNWKIQS LKDEITSEKL
60 70 80 90 100
NGVKLWITAG PREKFTAAEF EILKKYLDTG GDVFVMLGEG GESRFDTNIN
110 120 130 140 150
FLLEEYGIMV NNDAVVRNVY HKYFHPKEAL VSSGVLNREI SRAAGKAVPG
160 170 180 190 200
IIDEESSGNN AQALTFVYPF GATLSVMKPA VAVLSTGSVC FPLNRPILAF
210 220 230 240 250
YHSKNQGGKL AVLGSCHMFS DQYLDKEENS KIMDVVFQWL TTGDIHLNQI
260 270 280 290 300
DAEDPEISDY MMLPYTATLS KRNRECLQES DEIPRDFTTL FDLSIFQLDT
310 320 330 340 350
TSFHSVIEAH EQLNVKHEPL QLIQPQFETP LPTLQPAVFP PSFRELPPPP
360 370 380 390 400
LELFDLDETF SSEKARLAQI TNKCTEEDLE FYVRKCGDIL GVTSKLPKDQ
410 420 430
QDAKHILEHV FFQVVEFKKL NQEHDIDTSE TAFQNNF
Length:437
Mass (Da):49,706
Last modified:October 17, 2006 - v3
Checksum:iA388E242BDA238A0
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti84F → L in AAD34048 (PubMed:10810093).Curated1
Sequence conflicti149 – 150PG → LA in AAD34048 (PubMed:10810093).Curated2
Sequence conflicti235V → VV in AAD34048 (PubMed:10810093).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_077805199A → T in SRTD16. 1 PublicationCorresponds to variant dbSNP:rs886037869EnsemblClinVar.1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF151811 mRNA Translation: AAD34048.1
AK001436 mRNA Translation: BAG50913.1
AL121886 Genomic DNA No translation available.
Z98752 Genomic DNA No translation available.
CH471077 Genomic DNA Translation: EAW75953.1
CH471077 Genomic DNA Translation: EAW75954.1
BC039831 mRNA Translation: AAH39831.1
CCDSiCCDS33470.1
RefSeqiNP_001290387.1, NM_001303458.2
NP_057088.2, NM_016004.4
UniGeneiHs.444332

Genome annotation databases

EnsembliENST00000373030; ENSP00000362121; ENSG00000101052
ENST00000373039; ENSP00000362130; ENSG00000101052
GeneIDi51098
KEGGihsa:51098
UCSCiuc002xkw.4 human

Similar proteinsi

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF151811 mRNA Translation: AAD34048.1
AK001436 mRNA Translation: BAG50913.1
AL121886 Genomic DNA No translation available.
Z98752 Genomic DNA No translation available.
CH471077 Genomic DNA Translation: EAW75953.1
CH471077 Genomic DNA Translation: EAW75954.1
BC039831 mRNA Translation: AAH39831.1
CCDSiCCDS33470.1
RefSeqiNP_001290387.1, NM_001303458.2
NP_057088.2, NM_016004.4
UniGeneiHs.444332

3D structure databases

ProteinModelPortaliQ9Y366
SMRiQ9Y366
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi119287, 27 interactors
CORUMiQ9Y366
IntActiQ9Y366, 16 interactors
STRINGi9606.ENSP00000362121

PTM databases

iPTMnetiQ9Y366
PhosphoSitePlusiQ9Y366

Polymorphism and mutation databases

BioMutaiIFT52
DMDMi116242524

Proteomic databases

EPDiQ9Y366
MaxQBiQ9Y366
PaxDbiQ9Y366
PeptideAtlasiQ9Y366
PRIDEiQ9Y366
ProteomicsDBi85977

Protocols and materials databases

DNASUi51098
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000373030; ENSP00000362121; ENSG00000101052
ENST00000373039; ENSP00000362130; ENSG00000101052
GeneIDi51098
KEGGihsa:51098
UCSCiuc002xkw.4 human

Organism-specific databases

CTDi51098
DisGeNETi51098
EuPathDBiHostDB:ENSG00000101052.12
GeneCardsiIFT52
HGNCiHGNC:15901 IFT52
HPAiHPA063367
HPA067423
MalaCardsiIFT52
MIMi617094 gene
617102 phenotype
neXtProtiNX_Q9Y366
OpenTargetsiENSG00000101052
Orphaneti1515 Cranioectodermal dysplasia
PharmGKBiPA25796
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG3861 Eukaryota
ENOG410XPGR LUCA
GeneTreeiENSGT00390000011581
HOVERGENiHBG023562
InParanoidiQ9Y366
KOiK19681
OMAiLGSGYIW
OrthoDBiEOG091G074U
PhylomeDBiQ9Y366
TreeFamiTF105916

Enzyme and pathway databases

ReactomeiR-HSA-5610787 Hedgehog 'off' state
R-HSA-5620924 Intraflagellar transport

Miscellaneous databases

ChiTaRSiIFT52 human
GenomeRNAii51098
PROiPR:Q9Y366
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000101052 Expressed in 203 organ(s), highest expression level in testis
CleanExiHS_IFT52
GenevisibleiQ9Y366 HS

Family and domain databases

InterProiView protein in InterPro
IPR019196 ABC_transp_unknown
IPR039975 IFT52
PANTHERiPTHR12969 PTHR12969, 1 hit
PfamiView protein in Pfam
PF09822 ABC_transp_aux, 1 hit
ProtoNetiSearch...

Entry informationi

Entry nameiIFT52_HUMAN
AccessioniPrimary (citable) accession number: Q9Y366
Secondary accession number(s): B3KMA1
, E1P5W9, Q5H8Z0, Q9H1G3, Q9H1G4, Q9H1H2
Entry historyiIntegrated into UniProtKB/Swiss-Prot: October 19, 2002
Last sequence update: October 17, 2006
Last modified: November 7, 2018
This is version 138 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 entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  2. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  3. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  4. Human chromosome 20
    Human chromosome 20: entries, gene names and cross-references to MIM
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Main funding by: National Institutes of Health

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